id sid tid token lemma pos cord-014712-5u4e00q6 1 1 key key JJ cord-014712-5u4e00q6 1 2 : : : cord-014712-5u4e00q6 1 3 cord-014712 cord-014712 VB cord-014712-5u4e00q6 1 4 - - HYPH cord-014712-5u4e00q6 1 5 5u4e00q6 5u4e00q6 CD cord-014712-5u4e00q6 1 6 authors author NNS cord-014712-5u4e00q6 1 7 : : : cord-014712-5u4e00q6 2 1 nan nan NNP cord-014712-5u4e00q6 2 2 title title NN cord-014712-5u4e00q6 2 3 : : : cord-014712-5u4e00q6 2 4 Selected Selected NNP cord-014712-5u4e00q6 2 5 Abstracts abstract NNS cord-014712-5u4e00q6 2 6 from from IN cord-014712-5u4e00q6 2 7 the the DT cord-014712-5u4e00q6 2 8 100th 100th JJ cord-014712-5u4e00q6 2 9 J J NNP cord-014712-5u4e00q6 2 10 Project Project NNP cord-014712-5u4e00q6 2 11 Meeting Meeting NNP cord-014712-5u4e00q6 2 12 , , , cord-014712-5u4e00q6 2 13 Antalya Antalya NNP cord-014712-5u4e00q6 2 14 , , , cord-014712-5u4e00q6 2 15 Turkey Turkey NNP cord-014712-5u4e00q6 2 16 , , , cord-014712-5u4e00q6 2 17 March March NNP cord-014712-5u4e00q6 2 18 12 12 CD cord-014712-5u4e00q6 2 19 - - SYM cord-014712-5u4e00q6 2 20 14 14 CD cord-014712-5u4e00q6 2 21 , , , cord-014712-5u4e00q6 2 22 2014 2014 CD cord-014712-5u4e00q6 2 23 date date NN cord-014712-5u4e00q6 2 24 : : : cord-014712-5u4e00q6 2 25 2014 2014 CD cord-014712-5u4e00q6 2 26 - - HYPH cord-014712-5u4e00q6 2 27 08 08 CD cord-014712-5u4e00q6 2 28 - - HYPH cord-014712-5u4e00q6 2 29 02 02 CD cord-014712-5u4e00q6 2 30 journal journal NN cord-014712-5u4e00q6 2 31 : : : cord-014712-5u4e00q6 2 32 J J NNP cord-014712-5u4e00q6 2 33 Clin Clin NNP cord-014712-5u4e00q6 2 34 Immunol Immunol NNP cord-014712-5u4e00q6 2 35 DOI DOI NNP cord-014712-5u4e00q6 2 36 : : : cord-014712-5u4e00q6 2 37 10.1007 10.1007 CD cord-014712-5u4e00q6 2 38 / / SYM cord-014712-5u4e00q6 2 39 s10875 s10875 NN cord-014712-5u4e00q6 2 40 - - HYPH cord-014712-5u4e00q6 2 41 014 014 CD cord-014712-5u4e00q6 2 42 - - HYPH cord-014712-5u4e00q6 2 43 0065 0065 CD cord-014712-5u4e00q6 2 44 - - SYM cord-014712-5u4e00q6 2 45 9 9 CD cord-014712-5u4e00q6 2 46 sha sha NN cord-014712-5u4e00q6 2 47 : : : cord-014712-5u4e00q6 3 1 250b55f6f9a3363dbbf85025450f6196249655a2 250b55f6f9a3363dbbf85025450f6196249655a2 LS cord-014712-5u4e00q6 3 2 doc_id doc_id CD cord-014712-5u4e00q6 3 3 : : : cord-014712-5u4e00q6 3 4 14712 14712 CD cord-014712-5u4e00q6 3 5 cord_uid cord_uid NNS cord-014712-5u4e00q6 3 6 : : : cord-014712-5u4e00q6 4 1 5u4e00q6 5u4e00q6 NFP cord-014712-5u4e00q6 4 2 nan nan NNP cord-014712-5u4e00q6 4 3 Hans Hans NNP cord-014712-5u4e00q6 4 4 D. D. NNP cord-014712-5u4e00q6 4 5 Ochs Ochs NNP cord-014712-5u4e00q6 5 1 The the DT cord-014712-5u4e00q6 5 2 identification identification NN cord-014712-5u4e00q6 5 3 of of IN cord-014712-5u4e00q6 5 4 single single JJ cord-014712-5u4e00q6 5 5 gene gene NN cord-014712-5u4e00q6 5 6 defects defect NNS cord-014712-5u4e00q6 5 7 involving involve VBG cord-014712-5u4e00q6 5 8 genes gene NNS cord-014712-5u4e00q6 5 9 that that WDT cord-014712-5u4e00q6 5 10 play play VBP cord-014712-5u4e00q6 5 11 crucial crucial JJ cord-014712-5u4e00q6 5 12 roles role NNS cord-014712-5u4e00q6 5 13 in in IN cord-014712-5u4e00q6 5 14 adaptive adaptive JJ cord-014712-5u4e00q6 5 15 or or CC cord-014712-5u4e00q6 5 16 innate innate JJ cord-014712-5u4e00q6 5 17 immunity immunity NN cord-014712-5u4e00q6 5 18 is be VBZ cord-014712-5u4e00q6 5 19 not not RB cord-014712-5u4e00q6 5 20 only only RB cord-014712-5u4e00q6 5 21 important important JJ cord-014712-5u4e00q6 5 22 for for IN cord-014712-5u4e00q6 5 23 confirming confirm VBG cord-014712-5u4e00q6 5 24 a a DT cord-014712-5u4e00q6 5 25 PID pid NN cord-014712-5u4e00q6 5 26 diagnosis diagnosis NN cord-014712-5u4e00q6 5 27 , , , cord-014712-5u4e00q6 5 28 but but CC cord-014712-5u4e00q6 5 29 may may MD cord-014712-5u4e00q6 5 30 contribute contribute VB cord-014712-5u4e00q6 5 31 to to IN cord-014712-5u4e00q6 5 32 optimal optimal JJ cord-014712-5u4e00q6 5 33 therapy therapy NN cord-014712-5u4e00q6 5 34 , , , cord-014712-5u4e00q6 5 35 and and CC cord-014712-5u4e00q6 5 36 contribute contribute VB cord-014712-5u4e00q6 5 37 to to IN cord-014712-5u4e00q6 5 38 genetic genetic JJ cord-014712-5u4e00q6 5 39 counseling counseling NN cord-014712-5u4e00q6 5 40 , , , cord-014712-5u4e00q6 5 41 carrier carrier NN cord-014712-5u4e00q6 5 42 identification identification NN cord-014712-5u4e00q6 5 43 and and CC cord-014712-5u4e00q6 5 44 pre pre JJ cord-014712-5u4e00q6 5 45 - - JJ cord-014712-5u4e00q6 5 46 natal natal JJ cord-014712-5u4e00q6 5 47 diagnosis diagnosis NN cord-014712-5u4e00q6 5 48 . . . cord-014712-5u4e00q6 6 1 To to TO cord-014712-5u4e00q6 6 2 accomplish accomplish VB cord-014712-5u4e00q6 6 3 this this DT cord-014712-5u4e00q6 6 4 , , , cord-014712-5u4e00q6 6 5 the the DT cord-014712-5u4e00q6 6 6 diagnostician diagnostician NN cord-014712-5u4e00q6 6 7 has have VBZ cord-014712-5u4e00q6 6 8 to to TO cord-014712-5u4e00q6 6 9 consider consider VB cord-014712-5u4e00q6 6 10 the the DT cord-014712-5u4e00q6 6 11 inheritance inheritance NN cord-014712-5u4e00q6 6 12 of of IN cord-014712-5u4e00q6 6 13 these these DT cord-014712-5u4e00q6 6 14 disorders disorder NNS cord-014712-5u4e00q6 6 15 : : : cord-014712-5u4e00q6 6 16 X x NN cord-014712-5u4e00q6 6 17 - - HYPH cord-014712-5u4e00q6 6 18 linked link VBN cord-014712-5u4e00q6 6 19 , , , cord-014712-5u4e00q6 6 20 autosomal autosomal JJ cord-014712-5u4e00q6 6 21 recessive recessive JJ cord-014712-5u4e00q6 6 22 , , , cord-014712-5u4e00q6 6 23 autosomal autosomal JJ cord-014712-5u4e00q6 6 24 dominant dominant JJ cord-014712-5u4e00q6 6 25 and and CC cord-014712-5u4e00q6 6 26 the the DT cord-014712-5u4e00q6 6 27 type type NN cord-014712-5u4e00q6 6 28 of of IN cord-014712-5u4e00q6 6 29 mutation mutation NN cord-014712-5u4e00q6 6 30 : : : cord-014712-5u4e00q6 7 1 loss loss NN cord-014712-5u4e00q6 7 2 of of IN cord-014712-5u4e00q6 7 3 function function NN cord-014712-5u4e00q6 7 4 , , , cord-014712-5u4e00q6 7 5 hypomorphic hypomorphic JJ cord-014712-5u4e00q6 7 6 , , , cord-014712-5u4e00q6 7 7 dominant dominant JJ cord-014712-5u4e00q6 7 8 negative negative JJ cord-014712-5u4e00q6 7 9 or or CC cord-014712-5u4e00q6 7 10 gain gain NN cord-014712-5u4e00q6 7 11 of of IN cord-014712-5u4e00q6 7 12 function function NN cord-014712-5u4e00q6 7 13 . . . cord-014712-5u4e00q6 8 1 Conventional conventional JJ cord-014712-5u4e00q6 8 2 techniques technique NNS cord-014712-5u4e00q6 8 3 to to TO cord-014712-5u4e00q6 8 4 screen screen VB cord-014712-5u4e00q6 8 5 for for IN cord-014712-5u4e00q6 8 6 single single JJ cord-014712-5u4e00q6 8 7 gene gene NN cord-014712-5u4e00q6 8 8 mutations mutation NNS cord-014712-5u4e00q6 8 9 include include VBP cord-014712-5u4e00q6 8 10 flow flow NN cord-014712-5u4e00q6 8 11 cytometry cytometry NN cord-014712-5u4e00q6 8 12 to to TO cord-014712-5u4e00q6 8 13 measure measure VB cord-014712-5u4e00q6 8 14 disease disease NN cord-014712-5u4e00q6 8 15 - - HYPH cord-014712-5u4e00q6 8 16 specific specific JJ cord-014712-5u4e00q6 8 17 expression expression NN cord-014712-5u4e00q6 8 18 of of IN cord-014712-5u4e00q6 8 19 proteins protein NNS cord-014712-5u4e00q6 8 20 ( ( -LRB- cord-014712-5u4e00q6 8 21 cell cell NN cord-014712-5u4e00q6 8 22 surface surface NN cord-014712-5u4e00q6 8 23 , , , cord-014712-5u4e00q6 8 24 cytoplasmic cytoplasmic JJ cord-014712-5u4e00q6 8 25 or or CC cord-014712-5u4e00q6 8 26 nuclear nuclear JJ cord-014712-5u4e00q6 8 27 ) ) -RRB- cord-014712-5u4e00q6 8 28 or or CC cord-014712-5u4e00q6 8 29 to to TO cord-014712-5u4e00q6 8 30 analyze analyze VB cord-014712-5u4e00q6 8 31 relevant relevant JJ cord-014712-5u4e00q6 8 32 signaling signal VBG cord-014712-5u4e00q6 8 33 pathways pathway NNS cord-014712-5u4e00q6 8 34 ( ( -LRB- cord-014712-5u4e00q6 8 35 e.g. e.g. IN cord-014712-5u4e00q6 8 36 STAT5B stat5b NN cord-014712-5u4e00q6 8 37 phosphorylation phosphorylation NN cord-014712-5u4e00q6 8 38 via via IN cord-014712-5u4e00q6 8 39 the the DT cord-014712-5u4e00q6 8 40 IL-2R IL-2R NNP cord-014712-5u4e00q6 8 41 ; ; : cord-014712-5u4e00q6 8 42 pSTAT3 pstat3 NN cord-014712-5u4e00q6 8 43 via via IN cord-014712-5u4e00q6 8 44 the the DT cord-014712-5u4e00q6 8 45 IL-10 IL-10 NNP cord-014712-5u4e00q6 8 46 receptor receptor NN cord-014712-5u4e00q6 8 47 ) ) -RRB- cord-014712-5u4e00q6 8 48 ; ; : cord-014712-5u4e00q6 8 49 and and CC cord-014712-5u4e00q6 8 50 Sanger Sanger NNP cord-014712-5u4e00q6 8 51 sequencing sequencing NN cord-014712-5u4e00q6 8 52 of of IN cord-014712-5u4e00q6 8 53 mRNA mrna NN cord-014712-5u4e00q6 8 54 or or CC cord-014712-5u4e00q6 8 55 genomic genomic JJ cord-014712-5u4e00q6 8 56 DNA dna NN cord-014712-5u4e00q6 8 57 using use VBG cord-014712-5u4e00q6 8 58 Dye Dye NNP cord-014712-5u4e00q6 8 59 - - HYPH cord-014712-5u4e00q6 8 60 Terminator Terminator NNP cord-014712-5u4e00q6 8 61 sequencing sequencing NN cord-014712-5u4e00q6 8 62 . . . cord-014712-5u4e00q6 9 1 Next next JJ cord-014712-5u4e00q6 9 2 generation generation NN cord-014712-5u4e00q6 9 3 sequencing sequencing NN cord-014712-5u4e00q6 9 4 ( ( -LRB- cord-014712-5u4e00q6 9 5 " " `` cord-014712-5u4e00q6 9 6 by by IN cord-014712-5u4e00q6 9 7 synthesis synthesis NN cord-014712-5u4e00q6 9 8 " " '' cord-014712-5u4e00q6 9 9 ) ) -RRB- cord-014712-5u4e00q6 9 10 has have VBZ cord-014712-5u4e00q6 9 11 been be VBN cord-014712-5u4e00q6 9 12 refined refine VBN cord-014712-5u4e00q6 9 13 , , , cord-014712-5u4e00q6 9 14 and and CC cord-014712-5u4e00q6 9 15 is be VBZ cord-014712-5u4e00q6 9 16 being be VBG cord-014712-5u4e00q6 9 17 used use VBN cord-014712-5u4e00q6 9 18 increasingly increasingly RB cord-014712-5u4e00q6 9 19 to to TO cord-014712-5u4e00q6 9 20 study study VB cord-014712-5u4e00q6 9 21 families family NNS cord-014712-5u4e00q6 9 22 with with IN cord-014712-5u4e00q6 9 23 multiple multiple JJ cord-014712-5u4e00q6 9 24 affected affect VBN cord-014712-5u4e00q6 9 25 members member NNS cord-014712-5u4e00q6 9 26 with with IN cord-014712-5u4e00q6 9 27 an an DT cord-014712-5u4e00q6 9 28 atypical atypical JJ cord-014712-5u4e00q6 9 29 PID pid NN cord-014712-5u4e00q6 9 30 phenotype phenotype NN cord-014712-5u4e00q6 9 31 , , , cord-014712-5u4e00q6 9 32 or or CC cord-014712-5u4e00q6 9 33 to to TO cord-014712-5u4e00q6 9 34 explore explore VB cord-014712-5u4e00q6 9 35 consanguineous consanguineous JJ cord-014712-5u4e00q6 9 36 families family NNS cord-014712-5u4e00q6 9 37 with with IN cord-014712-5u4e00q6 9 38 one one CD cord-014712-5u4e00q6 9 39 member member NN cord-014712-5u4e00q6 9 40 affected affect VBD cord-014712-5u4e00q6 9 41 . . . cord-014712-5u4e00q6 10 1 Whole whole JJ cord-014712-5u4e00q6 10 2 exome exome NN cord-014712-5u4e00q6 10 3 sequencing sequencing NN cord-014712-5u4e00q6 10 4 requires require VBZ cord-014712-5u4e00q6 10 5 less less JJR cord-014712-5u4e00q6 10 6 data data NN cord-014712-5u4e00q6 10 7 analysis analysis NN cord-014712-5u4e00q6 10 8 , , , cord-014712-5u4e00q6 10 9 compared compare VBN cord-014712-5u4e00q6 10 10 with with IN cord-014712-5u4e00q6 10 11 whole whole JJ cord-014712-5u4e00q6 10 12 genome genome NN cord-014712-5u4e00q6 10 13 sequencing sequencing NN cord-014712-5u4e00q6 10 14 , , , cord-014712-5u4e00q6 10 15 but but CC cord-014712-5u4e00q6 10 16 may may MD cord-014712-5u4e00q6 10 17 miss miss VB cord-014712-5u4e00q6 10 18 intronic intronic JJ cord-014712-5u4e00q6 10 19 or or CC cord-014712-5u4e00q6 10 20 regulatory regulatory JJ cord-014712-5u4e00q6 10 21 elements element NNS cord-014712-5u4e00q6 10 22 . . . cord-014712-5u4e00q6 11 1 The the DT cord-014712-5u4e00q6 11 2 challenge challenge NN cord-014712-5u4e00q6 11 3 of of IN cord-014712-5u4e00q6 11 4 whole whole JJ cord-014712-5u4e00q6 11 5 exome exome NN cord-014712-5u4e00q6 11 6 / / SYM cord-014712-5u4e00q6 11 7 genome genome NN cord-014712-5u4e00q6 11 8 sequencing sequencing NN cord-014712-5u4e00q6 11 9 is be VBZ cord-014712-5u4e00q6 11 10 to to TO cord-014712-5u4e00q6 11 11 confirm confirm VB cord-014712-5u4e00q6 11 12 that that IN cord-014712-5u4e00q6 11 13 the the DT cord-014712-5u4e00q6 11 14 multiple multiple JJ cord-014712-5u4e00q6 11 15 variants variant NNS cord-014712-5u4e00q6 11 16 identified identify VBN cord-014712-5u4e00q6 11 17 by by IN cord-014712-5u4e00q6 11 18 these these DT cord-014712-5u4e00q6 11 19 techniques technique NNS cord-014712-5u4e00q6 11 20 are be VBP cord-014712-5u4e00q6 11 21 causative causative JJ cord-014712-5u4e00q6 11 22 for for IN cord-014712-5u4e00q6 11 23 the the DT cord-014712-5u4e00q6 11 24 clinical clinical JJ cord-014712-5u4e00q6 11 25 phenotype phenotype NN cord-014712-5u4e00q6 11 26 of of IN cord-014712-5u4e00q6 11 27 the the DT cord-014712-5u4e00q6 11 28 study study NN cord-014712-5u4e00q6 11 29 patient patient NN cord-014712-5u4e00q6 11 30 . . . cord-014712-5u4e00q6 12 1 However however RB cord-014712-5u4e00q6 12 2 , , , cord-014712-5u4e00q6 12 3 with with IN cord-014712-5u4e00q6 12 4 increasing increase VBG cord-014712-5u4e00q6 12 5 experience experience NN cord-014712-5u4e00q6 12 6 , , , cord-014712-5u4e00q6 12 7 next next JJ cord-014712-5u4e00q6 12 8 generation generation NN cord-014712-5u4e00q6 12 9 sequencing sequencing NN cord-014712-5u4e00q6 12 10 will will MD cord-014712-5u4e00q6 12 11 become become VB cord-014712-5u4e00q6 12 12 a a DT cord-014712-5u4e00q6 12 13 standard standard JJ cord-014712-5u4e00q6 12 14 procedure procedure NN cord-014712-5u4e00q6 12 15 for for IN cord-014712-5u4e00q6 12 16 the the DT cord-014712-5u4e00q6 12 17 identification identification NN cord-014712-5u4e00q6 12 18 of of IN cord-014712-5u4e00q6 12 19 genetic genetic JJ cord-014712-5u4e00q6 12 20 defects defect NNS cord-014712-5u4e00q6 12 21 responsible responsible JJ cord-014712-5u4e00q6 12 22 for for IN cord-014712-5u4e00q6 12 23 inherited inherit VBN cord-014712-5u4e00q6 12 24 diseases disease NNS cord-014712-5u4e00q6 12 25 , , , cord-014712-5u4e00q6 12 26 including include VBG cord-014712-5u4e00q6 12 27 PID PID NNP cord-014712-5u4e00q6 12 28 . . . cord-014712-5u4e00q6 13 1 Stephen Stephen NNP cord-014712-5u4e00q6 13 2 Jolles Jolles NNP cord-014712-5u4e00q6 13 3 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 13 4 Centre Centre NNP cord-014712-5u4e00q6 13 5 for for IN cord-014712-5u4e00q6 13 6 Wales Wales NNP cord-014712-5u4e00q6 13 7 , , , cord-014712-5u4e00q6 13 8 University University NNP cord-014712-5u4e00q6 13 9 Hospital Hospital NNP cord-014712-5u4e00q6 13 10 of of IN cord-014712-5u4e00q6 13 11 Wales Wales NNP cord-014712-5u4e00q6 13 12 , , , cord-014712-5u4e00q6 13 13 Cardiff Cardiff NNP cord-014712-5u4e00q6 13 14 , , , cord-014712-5u4e00q6 13 15 UK UK NNP cord-014712-5u4e00q6 13 16 . . . cord-014712-5u4e00q6 14 1 Immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 14 2 ( ( -LRB- cord-014712-5u4e00q6 14 3 Ig)-replacement ig)-replacement CD cord-014712-5u4e00q6 14 4 therapy therapy NN cord-014712-5u4e00q6 14 5 represents represent VBZ cord-014712-5u4e00q6 14 6 the the DT cord-014712-5u4e00q6 14 7 mainstay mainstay NN cord-014712-5u4e00q6 14 8 of of IN cord-014712-5u4e00q6 14 9 treatment treatment NN cord-014712-5u4e00q6 14 10 for for IN cord-014712-5u4e00q6 14 11 patients patient NNS cord-014712-5u4e00q6 14 12 with with IN cord-014712-5u4e00q6 14 13 primary primary JJ cord-014712-5u4e00q6 14 14 antibody antibody NN cord-014712-5u4e00q6 14 15 deficiency deficiency NN cord-014712-5u4e00q6 14 16 and and CC cord-014712-5u4e00q6 14 17 is be VBZ cord-014712-5u4e00q6 14 18 administered administer VBN cord-014712-5u4e00q6 14 19 either either CC cord-014712-5u4e00q6 14 20 intravenously intravenously RB cord-014712-5u4e00q6 14 21 ( ( -LRB- cord-014712-5u4e00q6 14 22 IVIg ivig ADD cord-014712-5u4e00q6 14 23 ) ) -RRB- cord-014712-5u4e00q6 14 24 or or CC cord-014712-5u4e00q6 14 25 subcutaneously subcutaneously RB cord-014712-5u4e00q6 14 26 ( ( -LRB- cord-014712-5u4e00q6 14 27 SCIg SCIg NNS cord-014712-5u4e00q6 14 28 ) ) -RRB- cord-014712-5u4e00q6 14 29 . . . cord-014712-5u4e00q6 15 1 Recent recent JJ cord-014712-5u4e00q6 15 2 developments development NNS cord-014712-5u4e00q6 15 3 using use VBG cord-014712-5u4e00q6 15 4 a a DT cord-014712-5u4e00q6 15 5 high high JJ cord-014712-5u4e00q6 15 6 - - HYPH cord-014712-5u4e00q6 15 7 purity purity NN cord-014712-5u4e00q6 15 8 recombinant recombinant JJ cord-014712-5u4e00q6 15 9 human human JJ cord-014712-5u4e00q6 15 10 hyaluronidase hyaluronidase NNP cord-014712-5u4e00q6 15 11 have have VBP cord-014712-5u4e00q6 15 12 allowed allow VBN cord-014712-5u4e00q6 15 13 the the DT cord-014712-5u4e00q6 15 14 longer long JJR cord-014712-5u4e00q6 15 15 term term NN cord-014712-5u4e00q6 15 16 repeated repeat VBN cord-014712-5u4e00q6 15 17 use use NN cord-014712-5u4e00q6 15 18 of of IN cord-014712-5u4e00q6 15 19 this this DT cord-014712-5u4e00q6 15 20 enzyme enzyme NN cord-014712-5u4e00q6 15 21 to to TO cord-014712-5u4e00q6 15 22 facilitate facilitate VB cord-014712-5u4e00q6 15 23 the the DT cord-014712-5u4e00q6 15 24 delivery delivery NN cord-014712-5u4e00q6 15 25 of of IN cord-014712-5u4e00q6 15 26 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 15 27 and and CC cord-014712-5u4e00q6 15 28 other other JJ cord-014712-5u4e00q6 15 29 molecules molecule NNS cord-014712-5u4e00q6 15 30 including include VBG cord-014712-5u4e00q6 15 31 antibiotics antibiotic NNS cord-014712-5u4e00q6 15 32 , , , cord-014712-5u4e00q6 15 33 local local JJ cord-014712-5u4e00q6 15 34 anesthetics anesthetic NNS cord-014712-5u4e00q6 15 35 , , , cord-014712-5u4e00q6 15 36 insulin insulin NN cord-014712-5u4e00q6 15 37 , , , cord-014712-5u4e00q6 15 38 morphine morphine NN cord-014712-5u4e00q6 15 39 and and CC cord-014712-5u4e00q6 15 40 fluid fluid JJ cord-014712-5u4e00q6 15 41 replacement replacement NN cord-014712-5u4e00q6 15 42 into into IN cord-014712-5u4e00q6 15 43 the the DT cord-014712-5u4e00q6 15 44 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 15 45 space space NN cord-014712-5u4e00q6 15 46 . . . cord-014712-5u4e00q6 16 1 Hyaluronidase Hyaluronidase NNP cord-014712-5u4e00q6 16 2 facilitated facilitate VBN cord-014712-5u4e00q6 16 3 SCIg SCIg NNS cord-014712-5u4e00q6 16 4 ( ( -LRB- cord-014712-5u4e00q6 16 5 fSCIg fSCIg NNS cord-014712-5u4e00q6 16 6 ) ) -RRB- cord-014712-5u4e00q6 17 1 has have VBZ cord-014712-5u4e00q6 17 2 helped help VBN cord-014712-5u4e00q6 17 3 overcome overcome VB cord-014712-5u4e00q6 17 4 the the DT cord-014712-5u4e00q6 17 5 limitations limitation NNS cord-014712-5u4e00q6 17 6 on on IN cord-014712-5u4e00q6 17 7 the the DT cord-014712-5u4e00q6 17 8 volume volume NN cord-014712-5u4e00q6 17 9 which which WDT cord-014712-5u4e00q6 17 10 can can MD cord-014712-5u4e00q6 17 11 be be VB cord-014712-5u4e00q6 17 12 delivered deliver VBN cord-014712-5u4e00q6 17 13 into into IN cord-014712-5u4e00q6 17 14 the the DT cord-014712-5u4e00q6 17 15 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 17 16 tissues tissue NNS cord-014712-5u4e00q6 17 17 by by IN cord-014712-5u4e00q6 17 18 enabling enable VBG cord-014712-5u4e00q6 17 19 dispersion dispersion NN cord-014712-5u4e00q6 17 20 of of IN cord-014712-5u4e00q6 17 21 SCIg SCIg NNS cord-014712-5u4e00q6 17 22 and and CC cord-014712-5u4e00q6 17 23 its -PRON- PRP$ cord-014712-5u4e00q6 17 24 absorption absorption NN cord-014712-5u4e00q6 17 25 into into IN cord-014712-5u4e00q6 17 26 lymphatics lymphatic NNS cord-014712-5u4e00q6 17 27 . . . cord-014712-5u4e00q6 18 1 The the DT cord-014712-5u4e00q6 18 2 rate rate NN cord-014712-5u4e00q6 18 3 of of IN cord-014712-5u4e00q6 18 4 facilitated facilitate VBN cord-014712-5u4e00q6 18 5 SCIg SCIg NNS cord-014712-5u4e00q6 18 6 infusion infusion NN cord-014712-5u4e00q6 18 7 is be VBZ cord-014712-5u4e00q6 18 8 equivalent equivalent JJ cord-014712-5u4e00q6 18 9 to to IN cord-014712-5u4e00q6 18 10 that that DT cord-014712-5u4e00q6 18 11 of of IN cord-014712-5u4e00q6 18 12 IVIg ivig NN cord-014712-5u4e00q6 18 13 , , , cord-014712-5u4e00q6 18 14 and and CC cord-014712-5u4e00q6 18 15 the the DT cord-014712-5u4e00q6 18 16 volume volume NN cord-014712-5u4e00q6 18 17 administered administer VBN cord-014712-5u4e00q6 18 18 at at IN cord-014712-5u4e00q6 18 19 a a DT cord-014712-5u4e00q6 18 20 single single JJ cord-014712-5u4e00q6 18 21 site site NN cord-014712-5u4e00q6 18 22 can can MD cord-014712-5u4e00q6 18 23 be be VB cord-014712-5u4e00q6 18 24 greater great JJR cord-014712-5u4e00q6 18 25 than than IN cord-014712-5u4e00q6 18 26 700 700 CD cord-014712-5u4e00q6 18 27 mL ml NN cord-014712-5u4e00q6 18 28 , , , cord-014712-5u4e00q6 18 29 an an DT cord-014712-5u4e00q6 18 30 enormous enormous JJ cord-014712-5u4e00q6 18 31 increase increase NN cord-014712-5u4e00q6 18 32 over over IN cord-014712-5u4e00q6 18 33 conventional conventional JJ cord-014712-5u4e00q6 18 34 SCIg SCIg NNS cord-014712-5u4e00q6 18 35 , , , cord-014712-5u4e00q6 18 36 at at IN cord-014712-5u4e00q6 19 1 20 20 CD cord-014712-5u4e00q6 19 2 - - SYM cord-014712-5u4e00q6 19 3 40 40 CD cord-014712-5u4e00q6 19 4 mL. mL. NNS cord-014712-5u4e00q6 19 5 The the DT cord-014712-5u4e00q6 19 6 use use NN cord-014712-5u4e00q6 19 7 of of IN cord-014712-5u4e00q6 19 8 fSCIg fSCIg NNS cord-014712-5u4e00q6 19 9 avoids avoid VBZ cord-014712-5u4e00q6 19 10 many many JJ cord-014712-5u4e00q6 19 11 of of IN cord-014712-5u4e00q6 19 12 the the DT cord-014712-5u4e00q6 19 13 systemic systemic JJ cord-014712-5u4e00q6 19 14 side side NN cord-014712-5u4e00q6 19 15 effects effect NNS cord-014712-5u4e00q6 19 16 of of IN cord-014712-5u4e00q6 19 17 IVIg ivig NN cord-014712-5u4e00q6 19 18 , , , cord-014712-5u4e00q6 19 19 and and CC cord-014712-5u4e00q6 19 20 has have VBZ cord-014712-5u4e00q6 19 21 higher high JJR cord-014712-5u4e00q6 19 22 bioavailability bioavailability NN cord-014712-5u4e00q6 19 23 than than IN cord-014712-5u4e00q6 19 24 SCIg SCIg NNS cord-014712-5u4e00q6 19 25 . . . cord-014712-5u4e00q6 20 1 Over over IN cord-014712-5u4e00q6 20 2 three three CD cord-014712-5u4e00q6 20 3 years year NNS cord-014712-5u4e00q6 20 4 of of IN cord-014712-5u4e00q6 20 5 safety safety NN cord-014712-5u4e00q6 20 6 data datum NNS cord-014712-5u4e00q6 20 7 are be VBP cord-014712-5u4e00q6 20 8 now now RB cord-014712-5u4e00q6 20 9 available available JJ cord-014712-5u4e00q6 20 10 for for IN cord-014712-5u4e00q6 20 11 this this DT cord-014712-5u4e00q6 20 12 approach approach NN cord-014712-5u4e00q6 20 13 though though IN cord-014712-5u4e00q6 20 14 longer long JJR cord-014712-5u4e00q6 20 15 term term NN cord-014712-5u4e00q6 20 16 safety safety NN cord-014712-5u4e00q6 20 17 data datum NNS cord-014712-5u4e00q6 20 18 and and CC cord-014712-5u4e00q6 20 19 information information NN cord-014712-5u4e00q6 20 20 on on IN cord-014712-5u4e00q6 20 21 anti anti JJ cord-014712-5u4e00q6 20 22 - - JJ cord-014712-5u4e00q6 20 23 hylauronidase hylauronidase JJ cord-014712-5u4e00q6 20 24 antibodies antibody NNS cord-014712-5u4e00q6 20 25 and and CC cord-014712-5u4e00q6 20 26 their -PRON- PRP$ cord-014712-5u4e00q6 20 27 relevance relevance NN cord-014712-5u4e00q6 20 28 will will MD cord-014712-5u4e00q6 20 29 be be VB cord-014712-5u4e00q6 20 30 required require VBN cord-014712-5u4e00q6 20 31 . . . cord-014712-5u4e00q6 21 1 fSCIg fSCIg NNS cord-014712-5u4e00q6 21 2 could could MD cord-014712-5u4e00q6 21 3 aid aid VB cord-014712-5u4e00q6 21 4 several several JJ cord-014712-5u4e00q6 21 5 areas area NNS cord-014712-5u4e00q6 21 6 of of IN cord-014712-5u4e00q6 21 7 patient patient JJ cord-014712-5u4e00q6 21 8 management management NN cord-014712-5u4e00q6 21 9 in in IN cord-014712-5u4e00q6 21 10 both both DT cord-014712-5u4e00q6 21 11 primary primary JJ cord-014712-5u4e00q6 21 12 antibody antibody NN cord-014712-5u4e00q6 21 13 deficiency deficiency NN cord-014712-5u4e00q6 21 14 and and CC cord-014712-5u4e00q6 21 15 immunomodulatory immunomodulatory JJ cord-014712-5u4e00q6 21 16 indications indication NNS cord-014712-5u4e00q6 21 17 . . . cord-014712-5u4e00q6 22 1 Key key JJ cord-014712-5u4e00q6 22 2 factors factor NNS cord-014712-5u4e00q6 22 3 influencing influence VBG cord-014712-5u4e00q6 22 4 how how WRB cord-014712-5u4e00q6 22 5 it -PRON- PRP cord-014712-5u4e00q6 22 6 will will MD cord-014712-5u4e00q6 22 7 be be VB cord-014712-5u4e00q6 22 8 used use VBN cord-014712-5u4e00q6 22 9 in in IN cord-014712-5u4e00q6 22 10 future future NN cord-014712-5u4e00q6 22 11 are be VBP cord-014712-5u4e00q6 22 12 long long JJ cord-014712-5u4e00q6 22 13 - - HYPH cord-014712-5u4e00q6 22 14 term term NN cord-014712-5u4e00q6 22 15 safety safety NN cord-014712-5u4e00q6 22 16 data datum NNS cord-014712-5u4e00q6 22 17 and and CC cord-014712-5u4e00q6 22 18 cost cost NN cord-014712-5u4e00q6 22 19 - - HYPH cord-014712-5u4e00q6 22 20 benefit benefit NN cord-014712-5u4e00q6 22 21 analysis analysis NN cord-014712-5u4e00q6 22 22 . . . cord-014712-5u4e00q6 23 1 date date NN cord-014712-5u4e00q6 23 2 after after IN cord-014712-5u4e00q6 23 3 the the DT cord-014712-5u4e00q6 23 4 CD19 CD19 NNP cord-014712-5u4e00q6 23 5 deficiency deficiency NN cord-014712-5u4e00q6 23 6 was be VBD cord-014712-5u4e00q6 23 7 firstly firstly RB cord-014712-5u4e00q6 23 8 described describe VBN cord-014712-5u4e00q6 23 9 in in IN cord-014712-5u4e00q6 23 10 a a DT cord-014712-5u4e00q6 23 11 Turkish turkish JJ cord-014712-5u4e00q6 23 12 girl girl NN cord-014712-5u4e00q6 23 13 in in IN cord-014712-5u4e00q6 23 14 2006 2006 CD cord-014712-5u4e00q6 23 15 . . . cord-014712-5u4e00q6 24 1 The the DT cord-014712-5u4e00q6 24 2 patients patient NNS cord-014712-5u4e00q6 24 3 with with IN cord-014712-5u4e00q6 24 4 CD19 CD19 NNP cord-014712-5u4e00q6 24 5 deficiency deficiency NN cord-014712-5u4e00q6 24 6 had have VBD cord-014712-5u4e00q6 24 7 normal normal JJ cord-014712-5u4e00q6 24 8 B b NN cord-014712-5u4e00q6 24 9 - - HYPH cord-014712-5u4e00q6 24 10 cell cell NN cord-014712-5u4e00q6 24 11 differentiation differentiation NN cord-014712-5u4e00q6 24 12 in in IN cord-014712-5u4e00q6 24 13 bone bone NN cord-014712-5u4e00q6 24 14 marrow marrow NN cord-014712-5u4e00q6 24 15 , , , cord-014712-5u4e00q6 24 16 normal normal JJ cord-014712-5u4e00q6 24 17 absolute absolute JJ cord-014712-5u4e00q6 24 18 number number NN cord-014712-5u4e00q6 24 19 of of IN cord-014712-5u4e00q6 24 20 B b NN cord-014712-5u4e00q6 24 21 cells cell NNS cord-014712-5u4e00q6 24 22 in in IN cord-014712-5u4e00q6 24 23 peripheral peripheral JJ cord-014712-5u4e00q6 24 24 blood blood NN cord-014712-5u4e00q6 24 25 and and CC cord-014712-5u4e00q6 24 26 normal normal JJ cord-014712-5u4e00q6 24 27 BCR BCR NNP cord-014712-5u4e00q6 24 28 repertoire repertoire NN cord-014712-5u4e00q6 24 29 . . . cord-014712-5u4e00q6 25 1 Also also RB cord-014712-5u4e00q6 25 2 , , , cord-014712-5u4e00q6 25 3 the the DT cord-014712-5u4e00q6 25 4 patients patient NNS cord-014712-5u4e00q6 25 5 had have VBD cord-014712-5u4e00q6 25 6 normal normal JJ cord-014712-5u4e00q6 25 7 stimulation stimulation NN cord-014712-5u4e00q6 25 8 via via IN cord-014712-5u4e00q6 25 9 the the DT cord-014712-5u4e00q6 25 10 BCR BCR NNP cord-014712-5u4e00q6 25 11 , , , cord-014712-5u4e00q6 25 12 normal normal JJ cord-014712-5u4e00q6 25 13 proliferation proliferation NN cord-014712-5u4e00q6 25 14 response response NN cord-014712-5u4e00q6 25 15 upon upon IN cord-014712-5u4e00q6 25 16 antigen antigen NN cord-014712-5u4e00q6 25 17 stimulation stimulation NN cord-014712-5u4e00q6 25 18 but but CC cord-014712-5u4e00q6 25 19 reduced reduce VBN cord-014712-5u4e00q6 25 20 memory memory NN cord-014712-5u4e00q6 25 21 - - HYPH cord-014712-5u4e00q6 25 22 B b NN cord-014712-5u4e00q6 25 23 - - HYPH cord-014712-5u4e00q6 25 24 cell cell NN cord-014712-5u4e00q6 25 25 compartment compartment NN cord-014712-5u4e00q6 25 26 in in IN cord-014712-5u4e00q6 25 27 peripheral peripheral JJ cord-014712-5u4e00q6 25 28 blood blood NN cord-014712-5u4e00q6 25 29 . . . cord-014712-5u4e00q6 26 1 The the DT cord-014712-5u4e00q6 26 2 CD19 CD19 NNP cord-014712-5u4e00q6 26 3 deficiency deficiency NN cord-014712-5u4e00q6 26 4 leads lead VBZ cord-014712-5u4e00q6 26 5 to to IN cord-014712-5u4e00q6 26 6 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 26 7 and and CC cord-014712-5u4e00q6 26 8 impaired impaired JJ cord-014712-5u4e00q6 26 9 antigen antigen NN cord-014712-5u4e00q6 26 10 - - HYPH cord-014712-5u4e00q6 26 11 specific specific JJ cord-014712-5u4e00q6 26 12 humoral humoral JJ cord-014712-5u4e00q6 26 13 immune immune JJ cord-014712-5u4e00q6 26 14 responses response NNS cord-014712-5u4e00q6 26 15 after after IN cord-014712-5u4e00q6 26 16 vaccination vaccination NN cord-014712-5u4e00q6 26 17 . . . cord-014712-5u4e00q6 27 1 We -PRON- PRP cord-014712-5u4e00q6 27 2 had have VBD cord-014712-5u4e00q6 27 3 described describe VBN cord-014712-5u4e00q6 27 4 thirty thirty CD cord-014712-5u4e00q6 27 5 carriers carrier NNS cord-014712-5u4e00q6 27 6 in in IN cord-014712-5u4e00q6 27 7 relatives relative NNS cord-014712-5u4e00q6 27 8 of of IN cord-014712-5u4e00q6 27 9 our -PRON- PRP$ cord-014712-5u4e00q6 27 10 two two CD cord-014712-5u4e00q6 27 11 patients patient NNS cord-014712-5u4e00q6 27 12 with with IN cord-014712-5u4e00q6 27 13 CD19 CD19 NNP cord-014712-5u4e00q6 27 14 deficieny deficieny NN cord-014712-5u4e00q6 27 15 and and CC cord-014712-5u4e00q6 27 16 also also RB cord-014712-5u4e00q6 27 17 showed show VBD cord-014712-5u4e00q6 27 18 that that IN cord-014712-5u4e00q6 27 19 the the DT cord-014712-5u4e00q6 27 20 MFI MFI NNP cord-014712-5u4e00q6 27 21 value value NN cord-014712-5u4e00q6 27 22 of of IN cord-014712-5u4e00q6 27 23 CD19 CD19 NNP cord-014712-5u4e00q6 27 24 and and CC cord-014712-5u4e00q6 27 25 CD21 CD21 NNP cord-014712-5u4e00q6 27 26 expressions expression NNS cord-014712-5u4e00q6 27 27 were be VBD cord-014712-5u4e00q6 27 28 lower low JJR cord-014712-5u4e00q6 27 29 in in IN cord-014712-5u4e00q6 27 30 the the DT cord-014712-5u4e00q6 27 31 carriers carrier NNS cord-014712-5u4e00q6 27 32 than than IN cord-014712-5u4e00q6 27 33 in in IN cord-014712-5u4e00q6 27 34 controls control NNS cord-014712-5u4e00q6 27 35 . . . cord-014712-5u4e00q6 28 1 During during IN cord-014712-5u4e00q6 28 2 the the DT cord-014712-5u4e00q6 28 3 last last JJ cord-014712-5u4e00q6 28 4 five five CD cord-014712-5u4e00q6 28 5 years year NNS cord-014712-5u4e00q6 28 6 , , , cord-014712-5u4e00q6 28 7 it -PRON- PRP cord-014712-5u4e00q6 28 8 was be VBD cord-014712-5u4e00q6 28 9 also also RB cord-014712-5u4e00q6 28 10 showed show VBN cord-014712-5u4e00q6 28 11 that that IN cord-014712-5u4e00q6 28 12 the the DT cord-014712-5u4e00q6 28 13 mutations mutation NNS cord-014712-5u4e00q6 28 14 of of IN cord-014712-5u4e00q6 28 15 the the DT cord-014712-5u4e00q6 28 16 other other JJ cord-014712-5u4e00q6 28 17 coreceptors coreceptor NNS cord-014712-5u4e00q6 28 18 of of IN cord-014712-5u4e00q6 28 19 B b NN cord-014712-5u4e00q6 28 20 cells cell NNS cord-014712-5u4e00q6 28 21 such such JJ cord-014712-5u4e00q6 28 22 as as IN cord-014712-5u4e00q6 28 23 CD81 CD81 NNP cord-014712-5u4e00q6 28 24 and and CC cord-014712-5u4e00q6 28 25 CD21 CD21 NNP cord-014712-5u4e00q6 28 26 caused cause VBD cord-014712-5u4e00q6 28 27 antibody antibody NN cord-014712-5u4e00q6 28 28 deficiency deficiency NN cord-014712-5u4e00q6 28 29 . . . cord-014712-5u4e00q6 29 1 In in IN cord-014712-5u4e00q6 29 2 conclusion conclusion NN cord-014712-5u4e00q6 29 3 , , , cord-014712-5u4e00q6 29 4 the the DT cord-014712-5u4e00q6 29 5 description description NN cord-014712-5u4e00q6 29 6 of of IN cord-014712-5u4e00q6 29 7 CD19 CD19 NNP cord-014712-5u4e00q6 29 8 deficiency deficiency NN cord-014712-5u4e00q6 29 9 reminds remind VBZ cord-014712-5u4e00q6 29 10 the the DT cord-014712-5u4e00q6 29 11 importance importance NN cord-014712-5u4e00q6 29 12 of of IN cord-014712-5u4e00q6 29 13 the the DT cord-014712-5u4e00q6 29 14 molecules molecule NNS cord-014712-5u4e00q6 29 15 on on IN cord-014712-5u4e00q6 29 16 B b NN cord-014712-5u4e00q6 29 17 cells cell NNS cord-014712-5u4e00q6 29 18 and and CC cord-014712-5u4e00q6 29 19 contribute contribute VBP cord-014712-5u4e00q6 29 20 to to TO cord-014712-5u4e00q6 29 21 identify identify VB cord-014712-5u4e00q6 29 22 new new JJ cord-014712-5u4e00q6 29 23 genetic genetic JJ cord-014712-5u4e00q6 29 24 defects defect NNS cord-014712-5u4e00q6 29 25 ( ( -LRB- cord-014712-5u4e00q6 29 26 CD81 CD81 NNP cord-014712-5u4e00q6 29 27 , , , cord-014712-5u4e00q6 29 28 CD21 CD21 NNP cord-014712-5u4e00q6 29 29 ) ) -RRB- cord-014712-5u4e00q6 29 30 , , , cord-014712-5u4e00q6 29 31 and and CC cord-014712-5u4e00q6 29 32 it -PRON- PRP cord-014712-5u4e00q6 29 33 was be VBD cord-014712-5u4e00q6 29 34 showed show VBN cord-014712-5u4e00q6 29 35 that that IN cord-014712-5u4e00q6 29 36 coreceptors coreceptor NNS cord-014712-5u4e00q6 29 37 could could MD cord-014712-5u4e00q6 29 38 affect affect VB cord-014712-5u4e00q6 29 39 the the DT cord-014712-5u4e00q6 29 40 expressions expression NNS cord-014712-5u4e00q6 29 41 and and CC cord-014712-5u4e00q6 29 42 the the DT cord-014712-5u4e00q6 29 43 functions function NNS cord-014712-5u4e00q6 29 44 of of IN cord-014712-5u4e00q6 29 45 each each DT cord-014712-5u4e00q6 29 46 other other JJ cord-014712-5u4e00q6 29 47 . . . cord-014712-5u4e00q6 30 1 Ege Ege NNP cord-014712-5u4e00q6 30 2 University University NNP cord-014712-5u4e00q6 30 3 Faculty Faculty NNP cord-014712-5u4e00q6 30 4 of of IN cord-014712-5u4e00q6 30 5 Medicine Medicine NNP cord-014712-5u4e00q6 30 6 , , , cord-014712-5u4e00q6 30 7 Dept Dept NNP cord-014712-5u4e00q6 30 8 of of IN cord-014712-5u4e00q6 30 9 Pediatric Pediatric NNP cord-014712-5u4e00q6 30 10 Immunology Immunology NNP cord-014712-5u4e00q6 30 11 , , , cord-014712-5u4e00q6 30 12 Izmir Izmir NNP cord-014712-5u4e00q6 30 13 , , , cord-014712-5u4e00q6 30 14 Turkey Turkey NNP cord-014712-5u4e00q6 30 15 Ig Ig NNP cord-014712-5u4e00q6 30 16 class class NN cord-014712-5u4e00q6 30 17 switch switch NN cord-014712-5u4e00q6 30 18 recombination recombination NN cord-014712-5u4e00q6 30 19 deficiencies deficiency NNS cord-014712-5u4e00q6 30 20 are be VBP cord-014712-5u4e00q6 30 21 rare rare JJ cord-014712-5u4e00q6 30 22 PIDs pid NNS cord-014712-5u4e00q6 30 23 ( ( -LRB- cord-014712-5u4e00q6 30 24 1:500,000 1:500,000 CD cord-014712-5u4e00q6 30 25 births birth NNS cord-014712-5u4e00q6 30 26 ) ) -RRB- cord-014712-5u4e00q6 30 27 with with IN cord-014712-5u4e00q6 30 28 normal normal JJ cord-014712-5u4e00q6 30 29 or or CC cord-014712-5u4e00q6 30 30 elevated elevated JJ cord-014712-5u4e00q6 30 31 serum serum NN cord-014712-5u4e00q6 30 32 IgM igm NN cord-014712-5u4e00q6 30 33 and and CC cord-014712-5u4e00q6 30 34 low low NNP cord-014712-5u4e00q6 30 35 IgG IgG NNP cord-014712-5u4e00q6 30 36 , , , cord-014712-5u4e00q6 30 37 IgA IgA NNP cord-014712-5u4e00q6 30 38 and and CC cord-014712-5u4e00q6 30 39 IgE IgE NNP cord-014712-5u4e00q6 30 40 levels level NNS cord-014712-5u4e00q6 30 41 , , , cord-014712-5u4e00q6 30 42 defective defective JJ cord-014712-5u4e00q6 30 43 or or CC cord-014712-5u4e00q6 30 44 normal normal JJ cord-014712-5u4e00q6 30 45 somatic somatic JJ cord-014712-5u4e00q6 30 46 hypermutation hypermutation NN cord-014712-5u4e00q6 30 47 , , , cord-014712-5u4e00q6 30 48 defective defective JJ cord-014712-5u4e00q6 30 49 T T NNP cord-014712-5u4e00q6 30 50 / / SYM cord-014712-5u4e00q6 30 51 B b NN cord-014712-5u4e00q6 30 52 cooperation cooperation NN cord-014712-5u4e00q6 30 53 ( ( -LRB- cord-014712-5u4e00q6 30 54 50 50 CD cord-014712-5u4e00q6 30 55 % % NN cord-014712-5u4e00q6 30 56 ) ) -RRB- cord-014712-5u4e00q6 30 57 , , , cord-014712-5u4e00q6 30 58 intrinsic intrinsic JJ cord-014712-5u4e00q6 30 59 B B NNP cord-014712-5u4e00q6 30 60 cell cell NN cord-014712-5u4e00q6 30 61 defect defect NN cord-014712-5u4e00q6 30 62 ( ( -LRB- cord-014712-5u4e00q6 30 63 50 50 CD cord-014712-5u4e00q6 30 64 % % NN cord-014712-5u4e00q6 30 65 ) ) -RRB- cord-014712-5u4e00q6 30 66 , , , cord-014712-5u4e00q6 30 67 susceptibility susceptibility NN cord-014712-5u4e00q6 30 68 to to IN cord-014712-5u4e00q6 30 69 bacterial bacterial JJ cord-014712-5u4e00q6 30 70 infections infection NNS cord-014712-5u4e00q6 30 71 begining begin VBG cord-014712-5u4e00q6 30 72 from from IN cord-014712-5u4e00q6 30 73 the the DT cord-014712-5u4e00q6 30 74 first first JJ cord-014712-5u4e00q6 30 75 year year NN cord-014712-5u4e00q6 30 76 of of IN cord-014712-5u4e00q6 30 77 age age NN cord-014712-5u4e00q6 30 78 ( ( -LRB- cord-014712-5u4e00q6 30 79 impaired impair VBN cord-014712-5u4e00q6 30 80 B b NN cord-014712-5u4e00q6 30 81 cell cell NN cord-014712-5u4e00q6 30 82 immunity immunity NN cord-014712-5u4e00q6 30 83 ) ) -RRB- cord-014712-5u4e00q6 30 84 and and CC cord-014712-5u4e00q6 30 85 lack lack NN cord-014712-5u4e00q6 30 86 of of IN cord-014712-5u4e00q6 30 87 germinal germinal JJ cord-014712-5u4e00q6 30 88 centres centre NNS cord-014712-5u4e00q6 30 89 in in IN cord-014712-5u4e00q6 30 90 secondary secondary JJ cord-014712-5u4e00q6 30 91 lymphoid lymphoid JJ cord-014712-5u4e00q6 30 92 organs organ NNS cord-014712-5u4e00q6 30 93 . . . cord-014712-5u4e00q6 31 1 We -PRON- PRP cord-014712-5u4e00q6 31 2 present present VBP cord-014712-5u4e00q6 31 3 a a DT cord-014712-5u4e00q6 31 4 CD40L cd40l NN cord-014712-5u4e00q6 31 5 defective defective JJ cord-014712-5u4e00q6 31 6 case case NN cord-014712-5u4e00q6 31 7 with with IN cord-014712-5u4e00q6 31 8 clinical clinical JJ cord-014712-5u4e00q6 31 9 findings finding NNS cord-014712-5u4e00q6 31 10 such such JJ cord-014712-5u4e00q6 31 11 as as IN cord-014712-5u4e00q6 31 12 recurrent recurrent JJ cord-014712-5u4e00q6 31 13 otitis otitis NN cord-014712-5u4e00q6 31 14 media medium NNS cord-014712-5u4e00q6 31 15 , , , cord-014712-5u4e00q6 31 16 recurrent recurrent JJ cord-014712-5u4e00q6 31 17 upper upper JJ cord-014712-5u4e00q6 31 18 and and CC cord-014712-5u4e00q6 31 19 lower low JJR cord-014712-5u4e00q6 31 20 respiratory respiratory JJ cord-014712-5u4e00q6 31 21 tract tract NN cord-014712-5u4e00q6 31 22 infections infection NNS cord-014712-5u4e00q6 31 23 , , , cord-014712-5u4e00q6 31 24 sinusitis sinusitis NN cord-014712-5u4e00q6 31 25 , , , cord-014712-5u4e00q6 31 26 arthritis arthritis NN cord-014712-5u4e00q6 31 27 , , , cord-014712-5u4e00q6 31 28 relapsing relapse VBG cord-014712-5u4e00q6 31 29 polychondritis polychondritis NN cord-014712-5u4e00q6 31 30 , , , cord-014712-5u4e00q6 31 31 EBV EBV NNP cord-014712-5u4e00q6 31 32 - - HYPH cord-014712-5u4e00q6 31 33 associated associate VBN cord-014712-5u4e00q6 31 34 cervical cervical JJ cord-014712-5u4e00q6 31 35 lymphoproliferation lymphoproliferation NN cord-014712-5u4e00q6 31 36 , , , cord-014712-5u4e00q6 31 37 CMV CMV NNP cord-014712-5u4e00q6 31 38 infection infection NN cord-014712-5u4e00q6 31 39 , , , cord-014712-5u4e00q6 31 40 bronchiectasis bronchiectasis NN cord-014712-5u4e00q6 31 41 , , , cord-014712-5u4e00q6 31 42 liver liver NN cord-014712-5u4e00q6 31 43 and and CC cord-014712-5u4e00q6 31 44 spleen spleen NN cord-014712-5u4e00q6 31 45 enlargement enlargement NN cord-014712-5u4e00q6 31 46 , , , cord-014712-5u4e00q6 31 47 multiple multiple JJ cord-014712-5u4e00q6 31 48 nodules nodule NNS cord-014712-5u4e00q6 31 49 in in IN cord-014712-5u4e00q6 31 50 the the DT cord-014712-5u4e00q6 31 51 liver liver NN cord-014712-5u4e00q6 31 52 , , , cord-014712-5u4e00q6 31 53 chronic chronic JJ cord-014712-5u4e00q6 31 54 diarrhea diarrhea NN cord-014712-5u4e00q6 31 55 due due IN cord-014712-5u4e00q6 31 56 to to IN cord-014712-5u4e00q6 31 57 persistent persistent JJ cord-014712-5u4e00q6 31 58 Cryptosporidium cryptosporidium NN cord-014712-5u4e00q6 31 59 parvum parvum NN cord-014712-5u4e00q6 31 60 , , , cord-014712-5u4e00q6 31 61 fungal fungal JJ cord-014712-5u4e00q6 31 62 pneumoniae pneumoniae NN cord-014712-5u4e00q6 31 63 , , , cord-014712-5u4e00q6 31 64 osteoporosis osteoporosis NN cord-014712-5u4e00q6 31 65 , , , cord-014712-5u4e00q6 31 66 and and CC cord-014712-5u4e00q6 31 67 schwannoma schwannoma NNP cord-014712-5u4e00q6 31 68 . . . cord-014712-5u4e00q6 32 1 This this DT cord-014712-5u4e00q6 32 2 case case NN cord-014712-5u4e00q6 32 3 is be VBZ cord-014712-5u4e00q6 32 4 remarkable remarkable JJ cord-014712-5u4e00q6 32 5 with with IN cord-014712-5u4e00q6 32 6 low low JJ cord-014712-5u4e00q6 32 7 IgM IgM NNP cord-014712-5u4e00q6 32 8 levels level NNS cord-014712-5u4e00q6 32 9 and and CC cord-014712-5u4e00q6 32 10 normal normal JJ cord-014712-5u4e00q6 32 11 CD40L cd40l NN cord-014712-5u4e00q6 32 12 ezpression ezpression NN cord-014712-5u4e00q6 32 13 on on IN cord-014712-5u4e00q6 32 14 activated activate VBN cord-014712-5u4e00q6 32 15 T T NNP cord-014712-5u4e00q6 32 16 cells cell NNS cord-014712-5u4e00q6 32 17 although although IN cord-014712-5u4e00q6 32 18 he -PRON- PRP cord-014712-5u4e00q6 32 19 had have VBD cord-014712-5u4e00q6 32 20 a a DT cord-014712-5u4e00q6 32 21 novel novel JJ cord-014712-5u4e00q6 32 22 mutation mutation NN cord-014712-5u4e00q6 32 23 in in IN cord-014712-5u4e00q6 32 24 CD40L cd40l NN cord-014712-5u4e00q6 32 25 gene gene NN cord-014712-5u4e00q6 32 26 ( ( -LRB- cord-014712-5u4e00q6 32 27 a a DT cord-014712-5u4e00q6 32 28 novel novel JJ cord-014712-5u4e00q6 32 29 missense missense NN cord-014712-5u4e00q6 32 30 mutation mutation NN cord-014712-5u4e00q6 32 31 in in IN cord-014712-5u4e00q6 32 32 CD40LG CD40LG NNP cord-014712-5u4e00q6 33 1 ( ( -LRB- cord-014712-5u4e00q6 33 2 c. c. NNP cord-014712-5u4e00q6 33 3 C139 C139 NNP cord-014712-5u4e00q6 33 4 T T NNP cord-014712-5u4e00q6 33 5 ) ) -RRB- cord-014712-5u4e00q6 33 6 , , , cord-014712-5u4e00q6 33 7 leading lead VBG cord-014712-5u4e00q6 33 8 to to IN cord-014712-5u4e00q6 33 9 an an DT cord-014712-5u4e00q6 33 10 a. a. NN cord-014712-5u4e00q6 33 11 a. a. NN cord-014712-5u4e00q6 33 12 change change NN cord-014712-5u4e00q6 33 13 from from IN cord-014712-5u4e00q6 33 14 histidine histidine NN cord-014712-5u4e00q6 33 15 to to IN cord-014712-5u4e00q6 33 16 tyrosine tyrosine NN cord-014712-5u4e00q6 33 17 at at IN cord-014712-5u4e00q6 33 18 position position NN cord-014712-5u4e00q6 33 19 47 47 CD cord-014712-5u4e00q6 33 20 ( ( -LRB- cord-014712-5u4e00q6 33 21 H47Y H47Y NNP cord-014712-5u4e00q6 33 22 ) ) -RRB- cord-014712-5u4e00q6 33 23 at at IN cord-014712-5u4e00q6 33 24 the the DT cord-014712-5u4e00q6 33 25 start start NN cord-014712-5u4e00q6 33 26 of of IN cord-014712-5u4e00q6 33 27 the the DT cord-014712-5u4e00q6 33 28 extracellular extracellular JJ cord-014712-5u4e00q6 33 29 domain domain NN cord-014712-5u4e00q6 33 30 ) ) -RRB- cord-014712-5u4e00q6 33 31 . . . cord-014712-5u4e00q6 34 1 In in IN cord-014712-5u4e00q6 34 2 addition addition NN cord-014712-5u4e00q6 34 3 , , , cord-014712-5u4e00q6 34 4 we -PRON- PRP cord-014712-5u4e00q6 34 5 present present VBP cord-014712-5u4e00q6 34 6 two two CD cord-014712-5u4e00q6 34 7 cases case NNS cord-014712-5u4e00q6 34 8 with with IN cord-014712-5u4e00q6 34 9 CD40 CD40 NNP cord-014712-5u4e00q6 34 10 deficiency deficiency NN cord-014712-5u4e00q6 34 11 with with IN cord-014712-5u4e00q6 34 12 normal normal JJ cord-014712-5u4e00q6 34 13 CD40 CD40 NNP cord-014712-5u4e00q6 34 14 expression expression NN cord-014712-5u4e00q6 34 15 on on IN cord-014712-5u4e00q6 34 16 B b NN cord-014712-5u4e00q6 34 17 cells cell NNS cord-014712-5u4e00q6 34 18 . . . cord-014712-5u4e00q6 35 1 Both both DT cord-014712-5u4e00q6 35 2 of of IN cord-014712-5u4e00q6 35 3 these these DT cord-014712-5u4e00q6 35 4 cases case NNS cord-014712-5u4e00q6 35 5 had have VBD cord-014712-5u4e00q6 35 6 homozygous homozygous JJ cord-014712-5u4e00q6 35 7 - - HYPH cord-014712-5u4e00q6 35 8 CD40-mutation CD40-mutation NNP cord-014712-5u4e00q6 35 9 leading lead VBG cord-014712-5u4e00q6 35 10 to to IN cord-014712-5u4e00q6 35 11 a a DT cord-014712-5u4e00q6 35 12 longer long RBR cord-014712-5u4e00q6 35 13 protein protein NN cord-014712-5u4e00q6 35 14 due due IN cord-014712-5u4e00q6 35 15 to to IN cord-014712-5u4e00q6 35 16 deletion deletion NN cord-014712-5u4e00q6 35 17 of of IN cord-014712-5u4e00q6 35 18 stop stop NN cord-014712-5u4e00q6 35 19 - - HYPH cord-014712-5u4e00q6 35 20 codon codon NN cord-014712-5u4e00q6 35 21 . . . cord-014712-5u4e00q6 36 1 In in IN cord-014712-5u4e00q6 36 2 conclusion conclusion NN cord-014712-5u4e00q6 36 3 ; ; : cord-014712-5u4e00q6 36 4 CD40 CD40 NNP cord-014712-5u4e00q6 36 5 molecules molecule NNS cord-014712-5u4e00q6 36 6 although although IN cord-014712-5u4e00q6 36 7 non non JJ cord-014712-5u4e00q6 36 8 - - JJ cord-014712-5u4e00q6 36 9 functional functional JJ cord-014712-5u4e00q6 36 10 in in IN cord-014712-5u4e00q6 36 11 B b NN cord-014712-5u4e00q6 36 12 cells cell NNS cord-014712-5u4e00q6 36 13 , , , cord-014712-5u4e00q6 36 14 may may MD cord-014712-5u4e00q6 36 15 be be VB cord-014712-5u4e00q6 36 16 normally normally RB cord-014712-5u4e00q6 36 17 expressed express VBN cord-014712-5u4e00q6 36 18 on on IN cord-014712-5u4e00q6 36 19 cell cell NN cord-014712-5u4e00q6 36 20 surface surface NN cord-014712-5u4e00q6 36 21 . . . cord-014712-5u4e00q6 37 1 These these DT cord-014712-5u4e00q6 37 2 CD40 CD40 NNP cord-014712-5u4e00q6 37 3 molecules molecule NNS cord-014712-5u4e00q6 37 4 are be VBP cord-014712-5u4e00q6 37 5 unable unable JJ cord-014712-5u4e00q6 37 6 to to TO cord-014712-5u4e00q6 37 7 trigger trigger VB cord-014712-5u4e00q6 37 8 signal signal NN cord-014712-5u4e00q6 37 9 , , , cord-014712-5u4e00q6 37 10 because because IN cord-014712-5u4e00q6 37 11 CD40L cd40l NN cord-014712-5u4e00q6 37 12 + + CC cord-014712-5u4e00q6 37 13 IL4 il4 NN cord-014712-5u4e00q6 37 14 activation activation NN cord-014712-5u4e00q6 37 15 leads lead VBZ cord-014712-5u4e00q6 37 16 to to TO cord-014712-5u4e00q6 37 17 complete complete JJ cord-014712-5u4e00q6 37 18 lack lack NN cord-014712-5u4e00q6 37 19 of of IN cord-014712-5u4e00q6 37 20 proliferation proliferation NN cord-014712-5u4e00q6 37 21 . . . cord-014712-5u4e00q6 38 1 Evaluation Evaluation NNP cord-014712-5u4e00q6 38 2 of of IN cord-014712-5u4e00q6 38 3 CD40 CD40 NNP cord-014712-5u4e00q6 38 4 or or CC cord-014712-5u4e00q6 38 5 CD40L cd40l NN cord-014712-5u4e00q6 38 6 expression expression NN cord-014712-5u4e00q6 38 7 by by IN cord-014712-5u4e00q6 38 8 flow flow NN cord-014712-5u4e00q6 38 9 cytometry cytometry NN cord-014712-5u4e00q6 38 10 may may MD cord-014712-5u4e00q6 38 11 lead lead VB cord-014712-5u4e00q6 38 12 false false JJ cord-014712-5u4e00q6 38 13 results result NNS cord-014712-5u4e00q6 38 14 . . . cord-014712-5u4e00q6 39 1 Study study NN cord-014712-5u4e00q6 39 2 of of IN cord-014712-5u4e00q6 39 3 CD40L cd40l NN cord-014712-5u4e00q6 39 4 + + CC cord-014712-5u4e00q6 39 5 cytokine cytokine NN cord-014712-5u4e00q6 39 6 ( ( -LRB- cord-014712-5u4e00q6 39 7 or or CC cord-014712-5u4e00q6 40 1 CD40 CD40 NNP cord-014712-5u4e00q6 40 2 + + CC cord-014712-5u4e00q6 40 3 cytokine)induced cytokine)induced NNP cord-014712-5u4e00q6 40 4 B b NN cord-014712-5u4e00q6 40 5 cell cell NN cord-014712-5u4e00q6 40 6 proliferation proliferation NN cord-014712-5u4e00q6 40 7 appears appear VBZ cord-014712-5u4e00q6 40 8 as as IN cord-014712-5u4e00q6 40 9 a a DT cord-014712-5u4e00q6 40 10 useful useful JJ cord-014712-5u4e00q6 40 11 tool tool NN cord-014712-5u4e00q6 40 12 for for IN cord-014712-5u4e00q6 40 13 these these DT cord-014712-5u4e00q6 40 14 diagnosis diagnosis NN cord-014712-5u4e00q6 40 15 . . . cord-014712-5u4e00q6 41 1 Institute Institute NNP cord-014712-5u4e00q6 41 2 for for IN cord-014712-5u4e00q6 41 3 Immunology Immunology NNP cord-014712-5u4e00q6 41 4 and and CC cord-014712-5u4e00q6 41 5 physiology physiology NN cord-014712-5u4e00q6 41 6 ( ( -LRB- cord-014712-5u4e00q6 41 7 UB UB NNP cord-014712-5u4e00q6 41 8 RAS RAS NNP cord-014712-5u4e00q6 41 9 ) ) -RRB- cord-014712-5u4e00q6 41 10 . . . cord-014712-5u4e00q6 42 1 Yekaterinburg Yekaterinburg NNP cord-014712-5u4e00q6 42 2 , , , cord-014712-5u4e00q6 42 3 Russia Russia NNP cord-014712-5u4e00q6 42 4 2 2 CD cord-014712-5u4e00q6 42 5 Regional regional JJ cord-014712-5u4e00q6 42 6 children child NNS cord-014712-5u4e00q6 42 7 clinical clinical JJ cord-014712-5u4e00q6 42 8 hospital hospital NN cord-014712-5u4e00q6 42 9 № № NNP cord-014712-5u4e00q6 42 10 1 1 CD cord-014712-5u4e00q6 42 11 , , , cord-014712-5u4e00q6 42 12 Yekaterinburg Yekaterinburg NNP cord-014712-5u4e00q6 42 13 , , , cord-014712-5u4e00q6 42 14 Russia Russia NNP cord-014712-5u4e00q6 42 15 The the DT cord-014712-5u4e00q6 42 16 Ural Ural NNP cord-014712-5u4e00q6 42 17 Regional Regional NNP cord-014712-5u4e00q6 42 18 center center NN cord-014712-5u4e00q6 42 19 of of IN cord-014712-5u4e00q6 42 20 clinical clinical JJ cord-014712-5u4e00q6 42 21 immunology immunology NN cord-014712-5u4e00q6 42 22 , , , cord-014712-5u4e00q6 42 23 which which WDT cord-014712-5u4e00q6 42 24 based base VBN cord-014712-5u4e00q6 42 25 on on IN cord-014712-5u4e00q6 42 26 Children Children NNP cord-014712-5u4e00q6 42 27 clinical clinical JJ cord-014712-5u4e00q6 42 28 hospital hospital NN cord-014712-5u4e00q6 42 29 number number NN cord-014712-5u4e00q6 42 30 one one CD cord-014712-5u4e00q6 42 31 ( ( -LRB- cord-014712-5u4e00q6 42 32 № № NNP cord-014712-5u4e00q6 42 33 1 1 CD cord-014712-5u4e00q6 42 34 ) ) -RRB- cord-014712-5u4e00q6 42 35 in in IN cord-014712-5u4e00q6 42 36 Yekaterinburg Yekaterinburg NNP cord-014712-5u4e00q6 42 37 , , , cord-014712-5u4e00q6 42 38 observe observe VBP cord-014712-5u4e00q6 42 39 patients patient NNS cord-014712-5u4e00q6 42 40 from from IN cord-014712-5u4e00q6 42 41 different different JJ cord-014712-5u4e00q6 42 42 territories territory NNS cord-014712-5u4e00q6 42 43 of of IN cord-014712-5u4e00q6 42 44 Ural Ural NNP cord-014712-5u4e00q6 42 45 region region NN cord-014712-5u4e00q6 42 46 and and CC cord-014712-5u4e00q6 42 47 neighboring neighboring NN cord-014712-5u4e00q6 42 48 areas area NNS cord-014712-5u4e00q6 42 49 . . . cord-014712-5u4e00q6 43 1 It -PRON- PRP cord-014712-5u4e00q6 43 2 consists consist VBZ cord-014712-5u4e00q6 43 3 of of IN cord-014712-5u4e00q6 43 4 laboratory laboratory NN cord-014712-5u4e00q6 43 5 department department NN cord-014712-5u4e00q6 43 6 , , , cord-014712-5u4e00q6 43 7 consultative consultative NNP cord-014712-5u4e00q6 43 8 department department NN cord-014712-5u4e00q6 43 9 , , , cord-014712-5u4e00q6 43 10 vaccination vaccination NN cord-014712-5u4e00q6 43 11 and and CC cord-014712-5u4e00q6 43 12 treatment treatment NN cord-014712-5u4e00q6 43 13 rooms room NNS cord-014712-5u4e00q6 43 14 , , , cord-014712-5u4e00q6 43 15 beds bed NNS cord-014712-5u4e00q6 43 16 and and CC cord-014712-5u4e00q6 43 17 boxes box NNS cord-014712-5u4e00q6 43 18 in in IN cord-014712-5u4e00q6 43 19 special special JJ cord-014712-5u4e00q6 43 20 departments department NNS cord-014712-5u4e00q6 43 21 in in IN cord-014712-5u4e00q6 43 22 the the DT cord-014712-5u4e00q6 43 23 Regional regional JJ cord-014712-5u4e00q6 43 24 children child NNS cord-014712-5u4e00q6 43 25 hospital hospital NN cord-014712-5u4e00q6 43 26 . . . cord-014712-5u4e00q6 44 1 The the DT cord-014712-5u4e00q6 44 2 close close JJ cord-014712-5u4e00q6 44 3 collaboration collaboration NN cord-014712-5u4e00q6 44 4 with with IN cord-014712-5u4e00q6 44 5 J J NNP cord-014712-5u4e00q6 44 6 - - HYPH cord-014712-5u4e00q6 44 7 Project Project NNP cord-014712-5u4e00q6 44 8 started start VBD cord-014712-5u4e00q6 44 9 in in IN cord-014712-5u4e00q6 44 10 2009 2009 CD cord-014712-5u4e00q6 44 11 . . . cord-014712-5u4e00q6 45 1 This this DT cord-014712-5u4e00q6 45 2 is be VBZ cord-014712-5u4e00q6 45 3 an an DT cord-014712-5u4e00q6 45 4 example example NN cord-014712-5u4e00q6 45 5 of of IN cord-014712-5u4e00q6 45 6 such such JJ cord-014712-5u4e00q6 45 7 collaboration collaboration NN cord-014712-5u4e00q6 45 8 . . . cord-014712-5u4e00q6 46 1 In in IN cord-014712-5u4e00q6 46 2 Patient Patient NNP cord-014712-5u4e00q6 46 3 A. A. NNP cord-014712-5u4e00q6 46 4 an an DT cord-014712-5u4e00q6 46 5 international international JJ cord-014712-5u4e00q6 46 6 consilium consilium NN cord-014712-5u4e00q6 46 7 was be VBD cord-014712-5u4e00q6 46 8 diagnosed diagnose VBN cord-014712-5u4e00q6 46 9 a a DT cord-014712-5u4e00q6 46 10 progressive progressive JJ cord-014712-5u4e00q6 46 11 neurodegenerative neurodegenerative JJ cord-014712-5u4e00q6 46 12 disease disease NN cord-014712-5u4e00q6 46 13 as as IN cord-014712-5u4e00q6 46 14 a a DT cord-014712-5u4e00q6 46 15 manifestation manifestation NN cord-014712-5u4e00q6 46 16 of of IN cord-014712-5u4e00q6 46 17 Primary Primary NNP cord-014712-5u4e00q6 46 18 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 46 19 : : : cord-014712-5u4e00q6 47 1 X X NNS cord-014712-5u4e00q6 47 2 - - HYPH cord-014712-5u4e00q6 47 3 linked link VBN cord-014712-5u4e00q6 47 4 agammaglobulinemia agammaglobulinemia NN cord-014712-5u4e00q6 47 5 with with IN cord-014712-5u4e00q6 47 6 B b NN cord-014712-5u4e00q6 47 7 - - HYPH cord-014712-5u4e00q6 47 8 cell cell NN cord-014712-5u4e00q6 47 9 deficiency deficiency NN cord-014712-5u4e00q6 47 10 . . . cord-014712-5u4e00q6 48 1 MRI MRI NNP cord-014712-5u4e00q6 48 2 results result NNS cord-014712-5u4e00q6 48 3 : : : cord-014712-5u4e00q6 48 4 unspecified unspecified JJ cord-014712-5u4e00q6 48 5 leukodystrophya leukodystrophya NN cord-014712-5u4e00q6 48 6 rapidly rapidly RB cord-014712-5u4e00q6 48 7 progressive progressive JJ cord-014712-5u4e00q6 48 8 multifocal multifocal JJ cord-014712-5u4e00q6 48 9 brain brain NN cord-014712-5u4e00q6 48 10 lesions lesion NNS cord-014712-5u4e00q6 48 11 with with IN cord-014712-5u4e00q6 48 12 demyelinating demyelinating NN cord-014712-5u4e00q6 48 13 , , , cord-014712-5u4e00q6 48 14 generalized generalized JJ cord-014712-5u4e00q6 48 15 cerebral cerebral JJ cord-014712-5u4e00q6 48 16 atrophy atrophy NN cord-014712-5u4e00q6 48 17 , , , cord-014712-5u4e00q6 48 18 III iii CD cord-014712-5u4e00q6 48 19 degree degree NN cord-014712-5u4e00q6 48 20 , , , cord-014712-5u4e00q6 48 21 signs sign NNS cord-014712-5u4e00q6 48 22 of of IN cord-014712-5u4e00q6 48 23 periventricular periventricular NNP cord-014712-5u4e00q6 48 24 leukomalacia leukomalacia NNP cord-014712-5u4e00q6 48 25 in in IN cord-014712-5u4e00q6 48 26 the the DT cord-014712-5u4e00q6 48 27 anterior anterior JJ cord-014712-5u4e00q6 48 28 horns horn NNS cord-014712-5u4e00q6 48 29 of of IN cord-014712-5u4e00q6 48 30 the the DT cord-014712-5u4e00q6 48 31 lateral lateral JJ cord-014712-5u4e00q6 48 32 ventricles ventricle NNS cord-014712-5u4e00q6 48 33 . . . cord-014712-5u4e00q6 49 1 The the DT cord-014712-5u4e00q6 49 2 brain brain NN cord-014712-5u4e00q6 49 3 biopsy biopsy NN cord-014712-5u4e00q6 49 4 was be VBD cord-014712-5u4e00q6 49 5 recommended recommend VBN cord-014712-5u4e00q6 49 6 in in IN cord-014712-5u4e00q6 49 7 order order NN cord-014712-5u4e00q6 49 8 to to TO cord-014712-5u4e00q6 49 9 clarify clarify VB cord-014712-5u4e00q6 49 10 the the DT cord-014712-5u4e00q6 49 11 nature nature NN cord-014712-5u4e00q6 49 12 of of IN cord-014712-5u4e00q6 49 13 the the DT cord-014712-5u4e00q6 49 14 defeat defeat NN cord-014712-5u4e00q6 49 15 of of IN cord-014712-5u4e00q6 49 16 the the DT cord-014712-5u4e00q6 49 17 pathological pathological JJ cord-014712-5u4e00q6 49 18 process process NN cord-014712-5u4e00q6 49 19 and and CC cord-014712-5u4e00q6 49 20 define define VB cord-014712-5u4e00q6 49 21 the the DT cord-014712-5u4e00q6 49 22 role role NN cord-014712-5u4e00q6 49 23 of of IN cord-014712-5u4e00q6 49 24 the the DT cord-014712-5u4e00q6 49 25 immune immune JJ cord-014712-5u4e00q6 49 26 mechanisms mechanism NNS cord-014712-5u4e00q6 49 27 of of IN cord-014712-5u4e00q6 49 28 its -PRON- PRP$ cord-014712-5u4e00q6 49 29 development development NN cord-014712-5u4e00q6 49 30 ( ( -LRB- cord-014712-5u4e00q6 49 31 held hold VBN cord-014712-5u4e00q6 49 32 in in IN cord-014712-5u4e00q6 49 33 the the DT cord-014712-5u4e00q6 49 34 neurosurgical neurosurgical JJ cord-014712-5u4e00q6 49 35 department department NN cord-014712-5u4e00q6 49 36 with with IN cord-014712-5u4e00q6 49 37 subsequent subsequent JJ cord-014712-5u4e00q6 49 38 histological histological JJ cord-014712-5u4e00q6 49 39 and and CC cord-014712-5u4e00q6 49 40 immunohistochemical immunohistochemical JJ cord-014712-5u4e00q6 49 41 studies study NNS cord-014712-5u4e00q6 49 42 ) ) -RRB- cord-014712-5u4e00q6 49 43 . . . cord-014712-5u4e00q6 50 1 Histological histological JJ cord-014712-5u4e00q6 50 2 and and CC cord-014712-5u4e00q6 50 3 immunohistochemical immunohistochemical JJ cord-014712-5u4e00q6 50 4 study study NN cord-014712-5u4e00q6 50 5 of of IN cord-014712-5u4e00q6 50 6 the the DT cord-014712-5u4e00q6 50 7 brain brain NN cord-014712-5u4e00q6 50 8 tissue tissue NN cord-014712-5u4e00q6 50 9 of of IN cord-014712-5u4e00q6 50 10 the the DT cord-014712-5u4e00q6 50 11 right right JJ cord-014712-5u4e00q6 50 12 frontal frontal JJ cord-014712-5u4e00q6 50 13 lobe lobe NN cord-014712-5u4e00q6 50 14 : : : cord-014712-5u4e00q6 50 15 a a DT cord-014712-5u4e00q6 50 16 signs sign NNS cord-014712-5u4e00q6 50 17 of of IN cord-014712-5u4e00q6 50 18 productive productive JJ cord-014712-5u4e00q6 50 19 meningoencephalitis meningoencephalitis NN cord-014712-5u4e00q6 50 20 in in IN cord-014712-5u4e00q6 50 21 brain brain NN cord-014712-5u4e00q6 50 22 tissue tissue NN cord-014712-5u4e00q6 50 23 with with IN cord-014712-5u4e00q6 50 24 vasculitis vasculitis NN cord-014712-5u4e00q6 50 25 , , , cord-014712-5u4e00q6 50 26 perivascular perivascular NNP cord-014712-5u4e00q6 50 27 and and CC cord-014712-5u4e00q6 50 28 focally focally RB cord-014712-5u4e00q6 50 29 moderate moderate JJ cord-014712-5u4e00q6 50 30 diffuse diffuse JJ cord-014712-5u4e00q6 50 31 infiltration infiltration NN cord-014712-5u4e00q6 50 32 of of IN cord-014712-5u4e00q6 50 33 mononuclear mononuclear JJ cord-014712-5u4e00q6 50 34 ( ( -LRB- cord-014712-5u4e00q6 50 35 accumulation accumulation NN cord-014712-5u4e00q6 50 36 of of IN cord-014712-5u4e00q6 50 37 mononuclear mononuclear FW cord-014712-5u4e00q6 50 38 CD45RB+ CD45RB+ NNP cord-014712-5u4e00q6 50 39 , , , cord-014712-5u4e00q6 50 40 vimentin+ vimentin+ NNP cord-014712-5u4e00q6 50 41 ) ) -RRB- cord-014712-5u4e00q6 50 42 , , , cord-014712-5u4e00q6 50 43 most most JJS cord-014712-5u4e00q6 50 44 of of IN cord-014712-5u4e00q6 50 45 which which WDT cord-014712-5u4e00q6 50 46 are be VBP cord-014712-5u4e00q6 50 47 CD8 CD8 NNS cord-014712-5u4e00q6 50 48 + + CC cord-014712-5u4e00q6 50 49 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 50 50 with with IN cord-014712-5u4e00q6 50 51 granules granule NNS cord-014712-5u4e00q6 50 52 of of IN cord-014712-5u4e00q6 50 53 granzymeB. granzymeb. NN cord-014712-5u4e00q6 50 54 Around around RB cord-014712-5u4e00q6 50 55 -dystrophy -dystrophy : cord-014712-5u4e00q6 50 56 and and CC cord-014712-5u4e00q6 50 57 necrobiosis necrobiosis NN cord-014712-5u4e00q6 50 58 neurons neuron NNS cord-014712-5u4e00q6 50 59 , , , cord-014712-5u4e00q6 50 60 intracellular intracellular JJ cord-014712-5u4e00q6 50 61 edema edema NN cord-014712-5u4e00q6 50 62 , , , cord-014712-5u4e00q6 51 1 small small JJ cord-014712-5u4e00q6 51 2 focuses focus NNS cord-014712-5u4e00q6 51 3 of of IN cord-014712-5u4e00q6 51 4 gliosis gliosis NNP cord-014712-5u4e00q6 51 5 -there -there NN cord-014712-5u4e00q6 51 6 are be VBP cord-014712-5u4e00q6 51 7 isolated isolate VBN cord-014712-5u4e00q6 51 8 myeloid myeloid NN cord-014712-5u4e00q6 51 9 cells cell NNS cord-014712-5u4e00q6 51 10 ( ( -LRB- cord-014712-5u4e00q6 51 11 myeloperoxidase myeloperoxidase NN cord-014712-5u4e00q6 51 12 + + CC cord-014712-5u4e00q6 51 13 ) ) -RRB- cord-014712-5u4e00q6 51 14 and and CC cord-014712-5u4e00q6 51 15 plasma plasma NN cord-014712-5u4e00q6 51 16 cells cell NNS cord-014712-5u4e00q6 51 17 with with IN cord-014712-5u4e00q6 51 18 cytoplasmic cytoplasmic JJ cord-014712-5u4e00q6 51 19 expression expression NN cord-014712-5u4e00q6 51 20 of of IN cord-014712-5u4e00q6 51 21 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 51 22 light light NN cord-014712-5u4e00q6 51 23 chains chain NNS cord-014712-5u4e00q6 51 24 lambda lambda NN cord-014712-5u4e00q6 51 25 and and CC cord-014712-5u4e00q6 51 26 kappa kappa NN cord-014712-5u4e00q6 51 27 ; ; : cord-014712-5u4e00q6 51 28 cells cell NNS cord-014712-5u4e00q6 51 29 and and CC cord-014712-5u4e00q6 51 30 the the DT cord-014712-5u4e00q6 51 31 extracellular extracellular JJ cord-014712-5u4e00q6 51 32 matrix matrix NN cord-014712-5u4e00q6 51 33 of of IN cord-014712-5u4e00q6 51 34 brain brain NN cord-014712-5u4e00q6 51 35 tissue tissue NN cord-014712-5u4e00q6 51 36 expressing express VBG cord-014712-5u4e00q6 51 37 CD56 CD56 NNP cord-014712-5u4e00q6 51 38 antigen antigen NN cord-014712-5u4e00q6 51 39 and and CC cord-014712-5u4e00q6 51 40 S100 s100 NN cord-014712-5u4e00q6 51 41 protein protein NN cord-014712-5u4e00q6 51 42 . . . cord-014712-5u4e00q6 52 1 Virological virological JJ cord-014712-5u4e00q6 52 2 and and CC cord-014712-5u4e00q6 52 3 bacteriological bacteriological JJ cord-014712-5u4e00q6 52 4 studies study NNS cord-014712-5u4e00q6 52 5 of of IN cord-014712-5u4e00q6 52 6 brain brain NN cord-014712-5u4e00q6 52 7 tissue tissue NN cord-014712-5u4e00q6 52 8 and and CC cord-014712-5u4e00q6 52 9 liquor liquor NN cord-014712-5u4e00q6 52 10 : : : cord-014712-5u4e00q6 52 11 connection connection NN cord-014712-5u4e00q6 52 12 of of IN cord-014712-5u4e00q6 52 13 progressive progressive JJ cord-014712-5u4e00q6 52 14 degenerative degenerative JJ cord-014712-5u4e00q6 52 15 changes change NNS cord-014712-5u4e00q6 52 16 and and CC cord-014712-5u4e00q6 52 17 infectious infectious JJ cord-014712-5u4e00q6 52 18 process process NN cord-014712-5u4e00q6 52 19 were be VBD cord-014712-5u4e00q6 52 20 n't not RB cord-014712-5u4e00q6 52 21 obtained obtain VBN cord-014712-5u4e00q6 52 22 Verified verify VBN cord-014712-5u4e00q6 52 23 acknowledgments acknowledgment NNS cord-014712-5u4e00q6 52 24 of of IN cord-014712-5u4e00q6 52 25 an an DT cord-014712-5u4e00q6 52 26 infectious infectious JJ cord-014712-5u4e00q6 52 27 or or CC cord-014712-5u4e00q6 52 28 autoimmune autoimmune JJ cord-014712-5u4e00q6 52 29 process process NN cord-014712-5u4e00q6 52 30 has have VBZ cord-014712-5u4e00q6 52 31 not not RB cord-014712-5u4e00q6 52 32 been be VBN cord-014712-5u4e00q6 52 33 received receive VBN cord-014712-5u4e00q6 52 34 . . . cord-014712-5u4e00q6 53 1 Search search NN cord-014712-5u4e00q6 53 2 for for IN cord-014712-5u4e00q6 53 3 a a DT cord-014712-5u4e00q6 53 4 genesis genesis NN cord-014712-5u4e00q6 53 5 of of IN cord-014712-5u4e00q6 53 6 cytotoxic cytotoxic JJ cord-014712-5u4e00q6 53 7 process process NN cord-014712-5u4e00q6 53 8 in in IN cord-014712-5u4e00q6 53 9 the the DT cord-014712-5u4e00q6 53 10 brain brain NN cord-014712-5u4e00q6 53 11 continues continue VBZ cord-014712-5u4e00q6 53 12 . . . cord-014712-5u4e00q6 54 1 Center Center NNP cord-014712-5u4e00q6 54 2 for for IN cord-014712-5u4e00q6 54 3 Chronic Chronic NNP cord-014712-5u4e00q6 54 4 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 54 5 , , , cord-014712-5u4e00q6 54 6 University University NNP cord-014712-5u4e00q6 54 7 Medical Medical NNP cord-014712-5u4e00q6 54 8 Center Center NNP cord-014712-5u4e00q6 54 9 Freiburg Freiburg NNP cord-014712-5u4e00q6 54 10 and and CC cord-014712-5u4e00q6 54 11 University University NNP cord-014712-5u4e00q6 54 12 of of IN cord-014712-5u4e00q6 54 13 Freiburg Freiburg NNP cord-014712-5u4e00q6 54 14 , , , cord-014712-5u4e00q6 54 15 Germany Germany NNP cord-014712-5u4e00q6 54 16 The the DT cord-014712-5u4e00q6 54 17 essential essential JJ cord-014712-5u4e00q6 54 18 role role NN cord-014712-5u4e00q6 54 19 for for IN cord-014712-5u4e00q6 54 20 IgG IgG NNP cord-014712-5u4e00q6 54 21 replacement replacement NN cord-014712-5u4e00q6 54 22 therapy therapy NN cord-014712-5u4e00q6 54 23 ( ( -LRB- cord-014712-5u4e00q6 54 24 IgGRT IgGRT NNP cord-014712-5u4e00q6 54 25 ) ) -RRB- cord-014712-5u4e00q6 54 26 for for IN cord-014712-5u4e00q6 54 27 Common common JJ cord-014712-5u4e00q6 54 28 variable variable JJ cord-014712-5u4e00q6 54 29 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 54 30 ( ( -LRB- cord-014712-5u4e00q6 54 31 CVID CVID NNP cord-014712-5u4e00q6 54 32 ) ) -RRB- cord-014712-5u4e00q6 54 33 has have VBZ cord-014712-5u4e00q6 54 34 been be VBN cord-014712-5u4e00q6 54 35 demonstrated demonstrate VBN cord-014712-5u4e00q6 54 36 in in IN cord-014712-5u4e00q6 54 37 many many JJ cord-014712-5u4e00q6 54 38 studies study NNS cord-014712-5u4e00q6 54 39 and and CC cord-014712-5u4e00q6 54 40 metaanalyses metaanalyse NNS cord-014712-5u4e00q6 54 41 . . . cord-014712-5u4e00q6 55 1 While while IN cord-014712-5u4e00q6 55 2 patients patient NNS cord-014712-5u4e00q6 55 3 with with IN cord-014712-5u4e00q6 55 4 " " `` cord-014712-5u4e00q6 55 5 infection infection NN cord-014712-5u4e00q6 55 6 only only RB cord-014712-5u4e00q6 55 7 " " '' cord-014712-5u4e00q6 55 8 reach reach VB cord-014712-5u4e00q6 55 9 a a DT cord-014712-5u4e00q6 55 10 nearly nearly RB cord-014712-5u4e00q6 55 11 normal normal JJ cord-014712-5u4e00q6 55 12 life life NN cord-014712-5u4e00q6 55 13 expectancy expectancy NN cord-014712-5u4e00q6 55 14 -though -though . cord-014712-5u4e00q6 56 1 still still RB cord-014712-5u4e00q6 56 2 not not RB cord-014712-5u4e00q6 56 3 quality quality NN cord-014712-5u4e00q6 57 1 -under -under : cord-014712-5u4e00q6 57 2 IgGRT iggrt JJ cord-014712-5u4e00q6 57 3 , , , cord-014712-5u4e00q6 57 4 CVID CVID NNP cord-014712-5u4e00q6 57 5 patients patient NNS cord-014712-5u4e00q6 57 6 with with IN cord-014712-5u4e00q6 57 7 additional additional JJ cord-014712-5u4e00q6 57 8 manifestations manifestation NNS cord-014712-5u4e00q6 57 9 like like IN cord-014712-5u4e00q6 57 10 inflammatory inflammatory JJ cord-014712-5u4e00q6 57 11 lung lung NN cord-014712-5u4e00q6 57 12 , , , cord-014712-5u4e00q6 57 13 bowel bowel NN cord-014712-5u4e00q6 57 14 or or CC cord-014712-5u4e00q6 57 15 liver liver NN cord-014712-5u4e00q6 57 16 disease disease NN cord-014712-5u4e00q6 57 17 , , , cord-014712-5u4e00q6 57 18 lymphoproliferative lymphoproliferative JJ cord-014712-5u4e00q6 57 19 and/or and/or CC cord-014712-5u4e00q6 57 20 autoimmune autoimmune JJ cord-014712-5u4e00q6 57 21 disease disease NN cord-014712-5u4e00q6 57 22 often often RB cord-014712-5u4e00q6 57 23 require require VBP cord-014712-5u4e00q6 57 24 additional additional JJ cord-014712-5u4e00q6 57 25 immunosuppressive immunosuppressive JJ cord-014712-5u4e00q6 57 26 treatment treatment NN cord-014712-5u4e00q6 57 27 . . . cord-014712-5u4e00q6 58 1 There there EX cord-014712-5u4e00q6 58 2 is be VBZ cord-014712-5u4e00q6 58 3 little little JJ cord-014712-5u4e00q6 58 4 consensus consensus NN cord-014712-5u4e00q6 58 5 on on IN cord-014712-5u4e00q6 58 6 the the DT cord-014712-5u4e00q6 58 7 form form NN cord-014712-5u4e00q6 58 8 of of IN cord-014712-5u4e00q6 58 9 immunosuppressive immunosuppressive JJ cord-014712-5u4e00q6 58 10 regimen regimen NN cord-014712-5u4e00q6 58 11 , , , cord-014712-5u4e00q6 58 12 once once IN cord-014712-5u4e00q6 58 13 steroids steroid NNS cord-014712-5u4e00q6 58 14 have have VBP cord-014712-5u4e00q6 58 15 failed fail VBN cord-014712-5u4e00q6 58 16 , , , cord-014712-5u4e00q6 58 17 with with IN cord-014712-5u4e00q6 58 18 possibly possibly RB cord-014712-5u4e00q6 58 19 the the DT cord-014712-5u4e00q6 58 20 one one CD cord-014712-5u4e00q6 58 21 exception exception NN cord-014712-5u4e00q6 58 22 of of IN cord-014712-5u4e00q6 58 23 Rituximab Rituximab NNP cord-014712-5u4e00q6 58 24 treatment treatment NN cord-014712-5u4e00q6 58 25 for for IN cord-014712-5u4e00q6 58 26 autoimmune autoimmune JJ cord-014712-5u4e00q6 58 27 cytopenia cytopenia NNP cord-014712-5u4e00q6 58 28 . . . cord-014712-5u4e00q6 59 1 Additional additional JJ cord-014712-5u4e00q6 59 2 studies study NNS cord-014712-5u4e00q6 59 3 are be VBP cord-014712-5u4e00q6 59 4 essential essential JJ cord-014712-5u4e00q6 59 5 to to TO cord-014712-5u4e00q6 59 6 guide guide VB cord-014712-5u4e00q6 59 7 therapeutic therapeutic JJ cord-014712-5u4e00q6 59 8 algorithms algorithm NNS cord-014712-5u4e00q6 59 9 . . . cord-014712-5u4e00q6 60 1 Some some DT cord-014712-5u4e00q6 60 2 of of IN cord-014712-5u4e00q6 60 3 these these DT cord-014712-5u4e00q6 60 4 patients patient NNS cord-014712-5u4e00q6 60 5 suffer suffer VBP cord-014712-5u4e00q6 60 6 from from IN cord-014712-5u4e00q6 60 7 late late JJ cord-014712-5u4e00q6 60 8 onset onset NN cord-014712-5u4e00q6 60 9 combined combine VBN cord-014712-5u4e00q6 60 10 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 60 11 ( ( -LRB- cord-014712-5u4e00q6 60 12 LOCID LOCID NNP cord-014712-5u4e00q6 60 13 ) ) -RRB- cord-014712-5u4e00q6 60 14 . . . cord-014712-5u4e00q6 61 1 As as IN cord-014712-5u4e00q6 61 2 in in IN cord-014712-5u4e00q6 61 3 classic classic JJ cord-014712-5u4e00q6 61 4 forms form NNS cord-014712-5u4e00q6 61 5 of of IN cord-014712-5u4e00q6 61 6 combined combine VBN cord-014712-5u4e00q6 61 7 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 61 8 , , , cord-014712-5u4e00q6 61 9 IgGRT IgGRT -LRB- cord-014712-5u4e00q6 61 10 can can MD cord-014712-5u4e00q6 61 11 be be VB cord-014712-5u4e00q6 61 12 only only RB cord-014712-5u4e00q6 61 13 a a DT cord-014712-5u4e00q6 61 14 part part NN cord-014712-5u4e00q6 61 15 of of IN cord-014712-5u4e00q6 61 16 the the DT cord-014712-5u4e00q6 61 17 treatment treatment NN cord-014712-5u4e00q6 61 18 strategy strategy NN cord-014712-5u4e00q6 61 19 , , , cord-014712-5u4e00q6 61 20 which which WDT cord-014712-5u4e00q6 61 21 needs need VBZ cord-014712-5u4e00q6 61 22 to to TO cord-014712-5u4e00q6 61 23 additionally additionally RB cord-014712-5u4e00q6 61 24 address address VB cord-014712-5u4e00q6 61 25 the the DT cord-014712-5u4e00q6 61 26 cellular cellular JJ cord-014712-5u4e00q6 61 27 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 61 28 of of IN cord-014712-5u4e00q6 61 29 the the DT cord-014712-5u4e00q6 61 30 patients patient NNS cord-014712-5u4e00q6 61 31 . . . cord-014712-5u4e00q6 62 1 Therefore therefore RB cord-014712-5u4e00q6 62 2 a a DT cord-014712-5u4e00q6 62 3 retrospective retrospective JJ cord-014712-5u4e00q6 62 4 survey survey NN cord-014712-5u4e00q6 62 5 was be VBD cord-014712-5u4e00q6 62 6 performed perform VBN cord-014712-5u4e00q6 62 7 on on IN cord-014712-5u4e00q6 62 8 patients patient NNS cord-014712-5u4e00q6 62 9 diagnosed diagnose VBN cord-014712-5u4e00q6 62 10 with with IN cord-014712-5u4e00q6 62 11 CVID CVID NNP cord-014712-5u4e00q6 62 12 who who WP cord-014712-5u4e00q6 62 13 underwent undergo VBD cord-014712-5u4e00q6 62 14 hematopoietic hematopoietic JJ cord-014712-5u4e00q6 62 15 stem stem NN cord-014712-5u4e00q6 62 16 cell cell NN cord-014712-5u4e00q6 62 17 transplantation transplantation NN cord-014712-5u4e00q6 62 18 . . . cord-014712-5u4e00q6 63 1 The the DT cord-014712-5u4e00q6 63 2 results result NNS cord-014712-5u4e00q6 63 3 of of IN cord-014712-5u4e00q6 63 4 this this DT cord-014712-5u4e00q6 63 5 study study NN cord-014712-5u4e00q6 63 6 are be VBP cord-014712-5u4e00q6 63 7 currently currently RB cord-014712-5u4e00q6 63 8 in in IN cord-014712-5u4e00q6 63 9 revision revision NN cord-014712-5u4e00q6 63 10 . . . cord-014712-5u4e00q6 64 1 In in IN cord-014712-5u4e00q6 64 2 summary summary NN cord-014712-5u4e00q6 64 3 , , , cord-014712-5u4e00q6 64 4 IgGRT IgGRT NNP cord-014712-5u4e00q6 64 5 is be VBZ cord-014712-5u4e00q6 64 6 the the DT cord-014712-5u4e00q6 64 7 baseline baseline JJ cord-014712-5u4e00q6 64 8 therapy therapy NN cord-014712-5u4e00q6 64 9 for for IN cord-014712-5u4e00q6 64 10 CVID CVID NNP cord-014712-5u4e00q6 64 11 but but CC cord-014712-5u4e00q6 64 12 does do VBZ cord-014712-5u4e00q6 64 13 not not RB cord-014712-5u4e00q6 64 14 address address VB cord-014712-5u4e00q6 64 15 sufficiently sufficiently RB cord-014712-5u4e00q6 64 16 the the DT cord-014712-5u4e00q6 64 17 immune immune JJ cord-014712-5u4e00q6 64 18 dysregulation dysregulation NN cord-014712-5u4e00q6 64 19 in in IN cord-014712-5u4e00q6 64 20 a a DT cord-014712-5u4e00q6 64 21 subgroup subgroup NN cord-014712-5u4e00q6 64 22 of of IN cord-014712-5u4e00q6 64 23 patients patient NNS cord-014712-5u4e00q6 64 24 . . . cord-014712-5u4e00q6 65 1 Better well RBR cord-014712-5u4e00q6 65 2 predictive predictive JJ cord-014712-5u4e00q6 65 3 markers marker NNS cord-014712-5u4e00q6 65 4 have have VBP cord-014712-5u4e00q6 65 5 to to TO cord-014712-5u4e00q6 65 6 be be VB cord-014712-5u4e00q6 65 7 identified identify VBN cord-014712-5u4e00q6 65 8 for for IN cord-014712-5u4e00q6 65 9 the the DT cord-014712-5u4e00q6 65 10 selection selection NN cord-014712-5u4e00q6 65 11 of of IN cord-014712-5u4e00q6 65 12 patients patient NNS cord-014712-5u4e00q6 65 13 for for IN cord-014712-5u4e00q6 65 14 additional additional JJ cord-014712-5u4e00q6 65 15 , , , cord-014712-5u4e00q6 65 16 potentially potentially RB cord-014712-5u4e00q6 65 17 even even RB cord-014712-5u4e00q6 65 18 definite definite JJ cord-014712-5u4e00q6 65 19 forms form NNS cord-014712-5u4e00q6 65 20 of of IN cord-014712-5u4e00q6 65 21 treatment treatment NN cord-014712-5u4e00q6 65 22 in in IN cord-014712-5u4e00q6 65 23 order order NN cord-014712-5u4e00q6 65 24 to to TO cord-014712-5u4e00q6 65 25 prevent prevent VB cord-014712-5u4e00q6 65 26 the the DT cord-014712-5u4e00q6 65 27 morbidity morbidity NN cord-014712-5u4e00q6 65 28 and and CC cord-014712-5u4e00q6 65 29 mortality mortality NN cord-014712-5u4e00q6 65 30 associated associate VBN cord-014712-5u4e00q6 65 31 with with IN cord-014712-5u4e00q6 65 32 these these DT cord-014712-5u4e00q6 65 33 secondary secondary JJ cord-014712-5u4e00q6 65 34 manifestations manifestation NNS cord-014712-5u4e00q6 65 35 of of IN cord-014712-5u4e00q6 65 36 CVID CVID NNP cord-014712-5u4e00q6 65 37 . . . cord-014712-5u4e00q6 65 38 _SP cord-014712-5u4e00q6 66 1 The the DT cord-014712-5u4e00q6 66 2 first first JJ cord-014712-5u4e00q6 66 3 department department NN cord-014712-5u4e00q6 66 4 of of IN cord-014712-5u4e00q6 66 5 primary primary JJ cord-014712-5u4e00q6 66 6 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 66 7 in in IN cord-014712-5u4e00q6 66 8 Russia Russia NNP cord-014712-5u4e00q6 66 9 was be VBD cord-014712-5u4e00q6 66 10 established establish VBN cord-014712-5u4e00q6 66 11 on on IN cord-014712-5u4e00q6 66 12 the the DT cord-014712-5u4e00q6 66 13 basis basis NN cord-014712-5u4e00q6 66 14 of of IN cord-014712-5u4e00q6 66 15 the the DT cord-014712-5u4e00q6 66 16 Institute Institute NNP cord-014712-5u4e00q6 66 17 of of IN cord-014712-5u4e00q6 66 18 Immunology Immunology NNP cord-014712-5u4e00q6 66 19 in in IN cord-014712-5u4e00q6 66 20 1980 1980 CD cord-014712-5u4e00q6 66 21 , , , cord-014712-5u4e00q6 66 22 when when WRB cord-014712-5u4e00q6 66 23 3 3 CD cord-014712-5u4e00q6 66 24 patients patient NNS cord-014712-5u4e00q6 66 25 with with IN cord-014712-5u4e00q6 66 26 PID PID NNP cord-014712-5u4e00q6 66 27 were be VBD cord-014712-5u4e00q6 66 28 registered register VBN cord-014712-5u4e00q6 66 29 . . . cord-014712-5u4e00q6 67 1 Currently currently RB cord-014712-5u4e00q6 67 2 , , , cord-014712-5u4e00q6 67 3 327 327 CD cord-014712-5u4e00q6 67 4 patients patient NNS cord-014712-5u4e00q6 67 5 with with IN cord-014712-5u4e00q6 67 6 PID PID NNP cord-014712-5u4e00q6 67 7 are be VBP cord-014712-5u4e00q6 67 8 followed follow VBN cord-014712-5u4e00q6 67 9 in in IN cord-014712-5u4e00q6 67 10 the the DT cord-014712-5u4e00q6 67 11 Department Department NNP cord-014712-5u4e00q6 67 12 of of IN cord-014712-5u4e00q6 67 13 immunopathology immunopathology NN cord-014712-5u4e00q6 67 14 in in IN cord-014712-5u4e00q6 67 15 adults adult NNS cord-014712-5u4e00q6 67 16 . . . cord-014712-5u4e00q6 68 1 65 65 CD cord-014712-5u4e00q6 68 2 % % NN cord-014712-5u4e00q6 68 3 of of IN cord-014712-5u4e00q6 68 4 PID pid NN cord-014712-5u4e00q6 68 5 adult adult NN cord-014712-5u4e00q6 68 6 patients patient NNS cord-014712-5u4e00q6 68 7 have have VBP cord-014712-5u4e00q6 68 8 PID PID NNP cord-014712-5u4e00q6 68 9 with with IN cord-014712-5u4e00q6 68 10 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 68 11 deficiency deficiency NN cord-014712-5u4e00q6 68 12 . . . cord-014712-5u4e00q6 69 1 Analysis analysis NN cord-014712-5u4e00q6 69 2 of of IN cord-014712-5u4e00q6 69 3 this this DT cord-014712-5u4e00q6 69 4 group group NN cord-014712-5u4e00q6 69 5 of of IN cord-014712-5u4e00q6 69 6 adult adult NN cord-014712-5u4e00q6 69 7 patients patient NNS cord-014712-5u4e00q6 69 8 showed show VBD cord-014712-5u4e00q6 69 9 that that IN cord-014712-5u4e00q6 69 10 the the DT cord-014712-5u4e00q6 69 11 diagnosis diagnosis NN cord-014712-5u4e00q6 69 12 of of IN cord-014712-5u4e00q6 69 13 PID PID NNP cord-014712-5u4e00q6 69 14 , , , cord-014712-5u4e00q6 69 15 on on IN cord-014712-5u4e00q6 69 16 average average JJ cord-014712-5u4e00q6 69 17 has have VBZ cord-014712-5u4e00q6 69 18 a a DT cord-014712-5u4e00q6 69 19 delay delay NN cord-014712-5u4e00q6 69 20 of of IN cord-014712-5u4e00q6 69 21 10 10 CD cord-014712-5u4e00q6 69 22 - - SYM cord-014712-5u4e00q6 69 23 15 15 CD cord-014712-5u4e00q6 69 24 years year NNS cord-014712-5u4e00q6 69 25 from from IN cord-014712-5u4e00q6 69 26 the the DT cord-014712-5u4e00q6 69 27 first first JJ cord-014712-5u4e00q6 69 28 symptoms symptom NNS cord-014712-5u4e00q6 69 29 . . . cord-014712-5u4e00q6 70 1 In in IN cord-014712-5u4e00q6 70 2 88 88 CD cord-014712-5u4e00q6 70 3 % % NN cord-014712-5u4e00q6 70 4 of of IN cord-014712-5u4e00q6 70 5 cases case NNS cord-014712-5u4e00q6 70 6 , , , cord-014712-5u4e00q6 70 7 there there EX cord-014712-5u4e00q6 70 8 is be VBZ cord-014712-5u4e00q6 70 9 an an DT cord-014712-5u4e00q6 70 10 infectious infectious JJ cord-014712-5u4e00q6 70 11 clinical clinical JJ cord-014712-5u4e00q6 70 12 phenotype phenotype NN cord-014712-5u4e00q6 70 13 , , , cord-014712-5u4e00q6 70 14 32 32 CD cord-014712-5u4e00q6 70 15 % % NN cord-014712-5u4e00q6 70 16 -combined -combined CD cord-014712-5u4e00q6 70 17 infectiouslymphoproliferative infectiouslymphoproliferative JJ cord-014712-5u4e00q6 70 18 phenotype phenotype NN cord-014712-5u4e00q6 70 19 , , , cord-014712-5u4e00q6 70 20 27 27 CD cord-014712-5u4e00q6 70 21 % % NN cord-014712-5u4e00q6 70 22 -infectious -infectious JJ cord-014712-5u4e00q6 70 23 and and CC cord-014712-5u4e00q6 70 24 enteropathy enteropathy NNP cord-014712-5u4e00q6 70 25 . . . cord-014712-5u4e00q6 71 1 The the DT cord-014712-5u4e00q6 71 2 study study NN cord-014712-5u4e00q6 71 3 of of IN cord-014712-5u4e00q6 71 4 immunophenotyping immunophenotyping NN cord-014712-5u4e00q6 71 5 of of IN cord-014712-5u4e00q6 71 6 B b NN cord-014712-5u4e00q6 71 7 - - HYPH cord-014712-5u4e00q6 71 8 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 71 9 for for IN cord-014712-5u4e00q6 71 10 the the DT cord-014712-5u4e00q6 71 11 degree degree NN cord-014712-5u4e00q6 71 12 of of IN cord-014712-5u4e00q6 71 13 maturation maturation NN cord-014712-5u4e00q6 71 14 in in IN cord-014712-5u4e00q6 71 15 this this DT cord-014712-5u4e00q6 71 16 group group NN cord-014712-5u4e00q6 71 17 of of IN cord-014712-5u4e00q6 71 18 patients patient NNS cord-014712-5u4e00q6 71 19 was be VBD cord-014712-5u4e00q6 71 20 begun begin VBN cord-014712-5u4e00q6 71 21 . . . cord-014712-5u4e00q6 72 1 13 13 CD cord-014712-5u4e00q6 72 2 patients patient NNS cord-014712-5u4e00q6 72 3 are be VBP cord-014712-5u4e00q6 72 4 currently currently RB cord-014712-5u4e00q6 72 5 included include VBN cord-014712-5u4e00q6 72 6 in in IN cord-014712-5u4e00q6 72 7 this this DT cord-014712-5u4e00q6 72 8 study study NN cord-014712-5u4e00q6 72 9 . . . cord-014712-5u4e00q6 73 1 2 2 CD cord-014712-5u4e00q6 73 2 patients patient NNS cord-014712-5u4e00q6 73 3 showed show VBD cord-014712-5u4e00q6 73 4 complete complete JJ cord-014712-5u4e00q6 73 5 absence absence NN cord-014712-5u4e00q6 73 6 of of IN cord-014712-5u4e00q6 73 7 B b NN cord-014712-5u4e00q6 73 8 - - HYPH cord-014712-5u4e00q6 73 9 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 73 10 , , , cord-014712-5u4e00q6 73 11 11 11 CD cord-014712-5u4e00q6 73 12 -the -the DT cord-014712-5u4e00q6 73 13 reduction reduction NN cord-014712-5u4e00q6 73 14 of of IN cord-014712-5u4e00q6 73 15 B b NN cord-014712-5u4e00q6 73 16 - - HYPH cord-014712-5u4e00q6 73 17 cells cell NNS cord-014712-5u4e00q6 73 18 , , , cord-014712-5u4e00q6 73 19 2 2 CD cord-014712-5u4e00q6 73 20 patients patient NNS cord-014712-5u4e00q6 73 21 of of IN cord-014712-5u4e00q6 73 22 those those DT cord-014712-5u4e00q6 73 23 have have VBP cord-014712-5u4e00q6 73 24 a a DT cord-014712-5u4e00q6 73 25 normal normal JJ cord-014712-5u4e00q6 73 26 amount amount NN cord-014712-5u4e00q6 73 27 switched switch VBN cord-014712-5u4e00q6 73 28 memory memory NN cord-014712-5u4e00q6 73 29 B b NN cord-014712-5u4e00q6 73 30 cells cell NNS cord-014712-5u4e00q6 73 31 ( ( -LRB- cord-014712-5u4e00q6 73 32 MBC MBC NNP cord-014712-5u4e00q6 73 33 ) ) -RRB- cord-014712-5u4e00q6 73 34 , , , cord-014712-5u4e00q6 73 35 9 9 CD cord-014712-5u4e00q6 73 36 people people NNS cord-014712-5u4e00q6 73 37 -a -a IN cord-014712-5u4e00q6 73 38 decrease decrease NN cord-014712-5u4e00q6 73 39 amount amount NN cord-014712-5u4e00q6 73 40 of of IN cord-014712-5u4e00q6 73 41 switched switch VBN cord-014712-5u4e00q6 73 42 MBC MBC NNP cord-014712-5u4e00q6 73 43 . . . cord-014712-5u4e00q6 74 1 8 8 CD cord-014712-5u4e00q6 74 2 persons person NNS cord-014712-5u4e00q6 74 3 of of IN cord-014712-5u4e00q6 74 4 the the DT cord-014712-5u4e00q6 74 5 group group NN cord-014712-5u4e00q6 74 6 with with IN cord-014712-5u4e00q6 74 7 decreased decrease VBN cord-014712-5u4e00q6 74 8 amount amount NN cord-014712-5u4e00q6 74 9 of of IN cord-014712-5u4e00q6 74 10 switched switch VBN cord-014712-5u4e00q6 74 11 MBC MBC NNP cord-014712-5u4e00q6 74 12 had have VBD cord-014712-5u4e00q6 74 13 an an DT cord-014712-5u4e00q6 74 14 expansion expansion NN cord-014712-5u4e00q6 74 15 of of IN cord-014712-5u4e00q6 74 16 transitional transitional JJ cord-014712-5u4e00q6 74 17 MBC MBC NNP cord-014712-5u4e00q6 74 18 . . . cord-014712-5u4e00q6 75 1 At at IN cord-014712-5u4e00q6 75 2 present present NN cord-014712-5u4e00q6 75 3 , , , cord-014712-5u4e00q6 75 4 a a DT cord-014712-5u4e00q6 75 5 clear clear JJ cord-014712-5u4e00q6 75 6 link link NN cord-014712-5u4e00q6 75 7 of of IN cord-014712-5u4e00q6 75 8 immunophenotypes immunophenotype NNS cord-014712-5u4e00q6 75 9 with with IN cord-014712-5u4e00q6 75 10 specific specific JJ cord-014712-5u4e00q6 75 11 clinical clinical JJ cord-014712-5u4e00q6 75 12 phenotypes phenotype NNS cord-014712-5u4e00q6 75 13 in in IN cord-014712-5u4e00q6 75 14 not not RB cord-014712-5u4e00q6 75 15 found find VBN cord-014712-5u4e00q6 75 16 , , , cord-014712-5u4e00q6 75 17 but but CC cord-014712-5u4e00q6 75 18 this this DT cord-014712-5u4e00q6 75 19 may may MD cord-014712-5u4e00q6 75 20 be be VB cord-014712-5u4e00q6 75 21 due due JJ cord-014712-5u4e00q6 75 22 to to IN cord-014712-5u4e00q6 75 23 small small JJ cord-014712-5u4e00q6 75 24 sample sample NN cord-014712-5u4e00q6 75 25 of of IN cord-014712-5u4e00q6 75 26 patients patient NNS cord-014712-5u4e00q6 75 27 at at IN cord-014712-5u4e00q6 75 28 the the DT cord-014712-5u4e00q6 75 29 moment moment NN cord-014712-5u4e00q6 75 30 , , , cord-014712-5u4e00q6 75 31 the the DT cord-014712-5u4e00q6 75 32 investigation investigation NN cord-014712-5u4e00q6 75 33 continues continue VBZ cord-014712-5u4e00q6 75 34 . . . cord-014712-5u4e00q6 76 1 For for IN cord-014712-5u4e00q6 76 2 the the DT cord-014712-5u4e00q6 76 3 treatment treatment NN cord-014712-5u4e00q6 76 4 of of IN cord-014712-5u4e00q6 76 5 this this DT cord-014712-5u4e00q6 76 6 category category NN cord-014712-5u4e00q6 76 7 of of IN cord-014712-5u4e00q6 76 8 patients patient NNS cord-014712-5u4e00q6 76 9 only only RB cord-014712-5u4e00q6 76 10 intravenous intravenous JJ cord-014712-5u4e00q6 76 11 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 76 12 are be VBP cord-014712-5u4e00q6 76 13 available available JJ cord-014712-5u4e00q6 76 14 in in IN cord-014712-5u4e00q6 76 15 Russia Russia NNP cord-014712-5u4e00q6 76 16 . . . cord-014712-5u4e00q6 77 1 We -PRON- PRP cord-014712-5u4e00q6 77 2 use use VBP cord-014712-5u4e00q6 77 3 drugs drug NNS cord-014712-5u4e00q6 77 4 in in IN cord-014712-5u4e00q6 77 5 various various JJ cord-014712-5u4e00q6 77 6 concentration concentration NN cord-014712-5u4e00q6 77 7 of of IN cord-014712-5u4e00q6 77 8 Russian russian JJ cord-014712-5u4e00q6 77 9 and and CC cord-014712-5u4e00q6 77 10 foreign foreign JJ cord-014712-5u4e00q6 77 11 production production NN cord-014712-5u4e00q6 77 12 . . . cord-014712-5u4e00q6 78 1 The the DT cord-014712-5u4e00q6 78 2 availability availability NN cord-014712-5u4e00q6 78 3 of of IN cord-014712-5u4e00q6 78 4 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 78 5 for for IN cord-014712-5u4e00q6 78 6 the the DT cord-014712-5u4e00q6 78 7 adult adult NN cord-014712-5u4e00q6 78 8 patients patient NNS cord-014712-5u4e00q6 78 9 unfortunately unfortunately RB cord-014712-5u4e00q6 78 10 is be VBZ cord-014712-5u4e00q6 78 11 not not RB cord-014712-5u4e00q6 78 12 sufficient sufficient JJ cord-014712-5u4e00q6 78 13 in in IN cord-014712-5u4e00q6 78 14 Russia Russia NNP cord-014712-5u4e00q6 78 15 , , , cord-014712-5u4e00q6 78 16 so so RB cord-014712-5u4e00q6 78 17 the the DT cord-014712-5u4e00q6 78 18 recommended recommend VBN cord-014712-5u4e00q6 78 19 pretransfusion pretransfusion NN cord-014712-5u4e00q6 78 20 level level NN cord-014712-5u4e00q6 78 21 of of IN cord-014712-5u4e00q6 78 22 IgG igg NN cord-014712-5u4e00q6 78 23 is be VBZ cord-014712-5u4e00q6 78 24 not not RB cord-014712-5u4e00q6 78 25 achieved achieve VBN cord-014712-5u4e00q6 78 26 in in IN cord-014712-5u4e00q6 78 27 about about RB cord-014712-5u4e00q6 78 28 70 70 CD cord-014712-5u4e00q6 78 29 % % NN cord-014712-5u4e00q6 78 30 of of IN cord-014712-5u4e00q6 78 31 patients patient NNS cord-014712-5u4e00q6 78 32 . . . cord-014712-5u4e00q6 79 1 Our -PRON- PRP$ cord-014712-5u4e00q6 79 2 work work NN cord-014712-5u4e00q6 79 3 presents present VBZ cord-014712-5u4e00q6 79 4 the the DT cord-014712-5u4e00q6 79 5 experiences experience NNS cord-014712-5u4e00q6 79 6 of of IN cord-014712-5u4e00q6 79 7 our -PRON- PRP$ cord-014712-5u4e00q6 79 8 center center NN cord-014712-5u4e00q6 79 9 with with IN cord-014712-5u4e00q6 79 10 the the DT cord-014712-5u4e00q6 79 11 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 79 12 form form NN cord-014712-5u4e00q6 79 13 of of IN cord-014712-5u4e00q6 79 14 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 79 15 therapy therapy NN cord-014712-5u4e00q6 79 16 ( ( -LRB- cord-014712-5u4e00q6 79 17 SCIG SCIG NNP cord-014712-5u4e00q6 79 18 ) ) -RRB- cord-014712-5u4e00q6 79 19 . . . cord-014712-5u4e00q6 80 1 We -PRON- PRP cord-014712-5u4e00q6 80 2 have have VBP cord-014712-5u4e00q6 80 3 64 64 CD cord-014712-5u4e00q6 80 4 patients patient NNS cord-014712-5u4e00q6 80 5 on on IN cord-014712-5u4e00q6 80 6 such such JJ cord-014712-5u4e00q6 80 7 therapy therapy NN cord-014712-5u4e00q6 80 8 . . . cord-014712-5u4e00q6 81 1 The the DT cord-014712-5u4e00q6 81 2 youngest young JJS cord-014712-5u4e00q6 81 3 child child NN cord-014712-5u4e00q6 81 4 is be VBZ cord-014712-5u4e00q6 81 5 7 7 CD cord-014712-5u4e00q6 81 6 months month NNS cord-014712-5u4e00q6 81 7 old old JJ cord-014712-5u4e00q6 81 8 . . . cord-014712-5u4e00q6 82 1 The the DT cord-014712-5u4e00q6 82 2 largest large JJS cord-014712-5u4e00q6 82 3 group group NN cord-014712-5u4e00q6 82 4 consists consist VBZ cord-014712-5u4e00q6 82 5 of of IN cord-014712-5u4e00q6 82 6 CVID CVID NNP cord-014712-5u4e00q6 82 7 patients patient NNS cord-014712-5u4e00q6 82 8 , , , cord-014712-5u4e00q6 82 9 next next JJ cord-014712-5u4e00q6 82 10 - - HYPH cord-014712-5u4e00q6 82 11 XLA XLA NNP cord-014712-5u4e00q6 82 12 patients patient NNS cord-014712-5u4e00q6 82 13 . . . cord-014712-5u4e00q6 83 1 We -PRON- PRP cord-014712-5u4e00q6 83 2 also also RB cord-014712-5u4e00q6 83 3 substitute substitute VBP cord-014712-5u4e00q6 83 4 children child NNS cord-014712-5u4e00q6 83 5 diagnosed diagnose VBN cord-014712-5u4e00q6 83 6 with with IN cord-014712-5u4e00q6 83 7 the the DT cord-014712-5u4e00q6 83 8 DGS DGS NNP cord-014712-5u4e00q6 83 9 and and CC cord-014712-5u4e00q6 83 10 accompanying accompany VBG cord-014712-5u4e00q6 83 11 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 83 12 and and CC cord-014712-5u4e00q6 83 13 some some DT cord-014712-5u4e00q6 83 14 children child NNS cord-014712-5u4e00q6 83 15 with with IN cord-014712-5u4e00q6 83 16 subclasses subclass NNS cord-014712-5u4e00q6 83 17 deficiency deficiency NN cord-014712-5u4e00q6 83 18 as as RB cord-014712-5u4e00q6 83 19 well well RB cord-014712-5u4e00q6 83 20 as as IN cord-014712-5u4e00q6 83 21 secondary secondary JJ cord-014712-5u4e00q6 83 22 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 83 23 . . . cord-014712-5u4e00q6 84 1 In in IN cord-014712-5u4e00q6 84 2 most most JJS cord-014712-5u4e00q6 84 3 cases case NNS cord-014712-5u4e00q6 84 4 we -PRON- PRP cord-014712-5u4e00q6 84 5 start start VBP cord-014712-5u4e00q6 84 6 therapy therapy NN cord-014712-5u4e00q6 84 7 with with IN cord-014712-5u4e00q6 84 8 intravenous intravenous JJ cord-014712-5u4e00q6 84 9 preparates preparate NNS cord-014712-5u4e00q6 84 10 , , , cord-014712-5u4e00q6 84 11 but but CC cord-014712-5u4e00q6 84 12 there there EX cord-014712-5u4e00q6 84 13 have have VBP cord-014712-5u4e00q6 84 14 been be VBN cord-014712-5u4e00q6 84 15 some some DT cord-014712-5u4e00q6 84 16 children child NNS cord-014712-5u4e00q6 84 17 to to TO cord-014712-5u4e00q6 84 18 whom whom WP cord-014712-5u4e00q6 84 19 we -PRON- PRP cord-014712-5u4e00q6 84 20 proposed propose VBD cord-014712-5u4e00q6 84 21 the the DT cord-014712-5u4e00q6 84 22 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 84 23 form form NN cord-014712-5u4e00q6 84 24 at at IN cord-014712-5u4e00q6 84 25 the the DT cord-014712-5u4e00q6 84 26 initial initial JJ cord-014712-5u4e00q6 84 27 stage stage NN cord-014712-5u4e00q6 84 28 of of IN cord-014712-5u4e00q6 84 29 the the DT cord-014712-5u4e00q6 84 30 therapy therapy NN cord-014712-5u4e00q6 84 31 . . . cord-014712-5u4e00q6 85 1 The the DT cord-014712-5u4e00q6 85 2 main main JJ cord-014712-5u4e00q6 85 3 factors factor NNS cord-014712-5u4e00q6 85 4 which which WDT cord-014712-5u4e00q6 85 5 made make VBD cord-014712-5u4e00q6 85 6 us -PRON- PRP cord-014712-5u4e00q6 85 7 change change VB cord-014712-5u4e00q6 85 8 the the DT cord-014712-5u4e00q6 85 9 mode mode NN cord-014712-5u4e00q6 85 10 of of IN cord-014712-5u4e00q6 85 11 the the DT cord-014712-5u4e00q6 85 12 drug drug NN cord-014712-5u4e00q6 85 13 application application NN cord-014712-5u4e00q6 85 14 were be VBD cord-014712-5u4e00q6 85 15 adverse adverse JJ cord-014712-5u4e00q6 85 16 reactions reaction NNS cord-014712-5u4e00q6 85 17 to to IN cord-014712-5u4e00q6 85 18 IVIG IVIG NNP cord-014712-5u4e00q6 85 19 , , , cord-014712-5u4e00q6 85 20 poor poor JJ cord-014712-5u4e00q6 85 21 vein vein NN cord-014712-5u4e00q6 85 22 access access NN cord-014712-5u4e00q6 85 23 and and CC cord-014712-5u4e00q6 85 24 the the DT cord-014712-5u4e00q6 85 25 parents`wish parents`wish NNP cord-014712-5u4e00q6 85 26 . . . cord-014712-5u4e00q6 86 1 The the DT cord-014712-5u4e00q6 86 2 administration administration NN cord-014712-5u4e00q6 86 3 of of IN cord-014712-5u4e00q6 86 4 SCIG SCIG NNP cord-014712-5u4e00q6 86 5 is be VBZ cord-014712-5u4e00q6 86 6 very very RB cord-014712-5u4e00q6 86 7 rarely rarely RB cord-014712-5u4e00q6 86 8 complicated complicate VBN cord-014712-5u4e00q6 86 9 by by IN cord-014712-5u4e00q6 86 10 severe severe JJ cord-014712-5u4e00q6 86 11 adverse adverse JJ cord-014712-5u4e00q6 86 12 reactions reaction NNS cord-014712-5u4e00q6 86 13 ( ( -LRB- cord-014712-5u4e00q6 86 14 the the DT cord-014712-5u4e00q6 86 15 risk risk NN cord-014712-5u4e00q6 86 16 of of IN cord-014712-5u4e00q6 86 17 their -PRON- PRP$ cord-014712-5u4e00q6 86 18 incidence incidence NN cord-014712-5u4e00q6 86 19 amounts amount VBZ cord-014712-5u4e00q6 86 20 to to IN cord-014712-5u4e00q6 86 21 about about RB cord-014712-5u4e00q6 86 22 0.3 0.3 CD cord-014712-5u4e00q6 86 23 % % NN cord-014712-5u4e00q6 86 24 ) ) -RRB- cord-014712-5u4e00q6 86 25 . . . cord-014712-5u4e00q6 87 1 Even even RB cord-014712-5u4e00q6 87 2 patients patient NNS cord-014712-5u4e00q6 87 3 with with IN cord-014712-5u4e00q6 87 4 serious serious JJ cord-014712-5u4e00q6 87 5 side side NN cord-014712-5u4e00q6 87 6 effects effect NNS cord-014712-5u4e00q6 87 7 to to IN cord-014712-5u4e00q6 87 8 previous previous JJ cord-014712-5u4e00q6 87 9 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 87 10 therapy therapy NN cord-014712-5u4e00q6 87 11 and/or and/or CC cord-014712-5u4e00q6 87 12 blood blood NN cord-014712-5u4e00q6 87 13 transfusion transfusion NN cord-014712-5u4e00q6 87 14 can can MD cord-014712-5u4e00q6 87 15 be be VB cord-014712-5u4e00q6 87 16 safely safely RB cord-014712-5u4e00q6 87 17 treated treat VBN cord-014712-5u4e00q6 87 18 with with IN cord-014712-5u4e00q6 87 19 SCIG SCIG NNP cord-014712-5u4e00q6 87 20 . . . cord-014712-5u4e00q6 88 1 The the DT cord-014712-5u4e00q6 88 2 most most RBS cord-014712-5u4e00q6 88 3 common common JJ cord-014712-5u4e00q6 88 4 side side NN cord-014712-5u4e00q6 88 5 effects effect NNS cord-014712-5u4e00q6 88 6 are be VBP cord-014712-5u4e00q6 88 7 local local JJ cord-014712-5u4e00q6 88 8 reactions reaction NNS cord-014712-5u4e00q6 88 9 but but CC cord-014712-5u4e00q6 88 10 their -PRON- PRP$ cord-014712-5u4e00q6 88 11 incidence incidence NN cord-014712-5u4e00q6 88 12 decreases decrease VBZ cord-014712-5u4e00q6 88 13 during during IN cord-014712-5u4e00q6 88 14 following follow VBG cord-014712-5u4e00q6 88 15 substitutions substitution NNS cord-014712-5u4e00q6 88 16 . . . cord-014712-5u4e00q6 89 1 We -PRON- PRP cord-014712-5u4e00q6 89 2 can can MD cord-014712-5u4e00q6 89 3 observe observe VB cord-014712-5u4e00q6 89 4 swelling swelling NN cord-014712-5u4e00q6 89 5 , , , cord-014712-5u4e00q6 89 6 redness redness NN cord-014712-5u4e00q6 89 7 , , , cord-014712-5u4e00q6 89 8 induration induration NN cord-014712-5u4e00q6 89 9 , , , cord-014712-5u4e00q6 89 10 soreness soreness NN cord-014712-5u4e00q6 89 11 . . . cord-014712-5u4e00q6 90 1 But but CC cord-014712-5u4e00q6 90 2 we -PRON- PRP cord-014712-5u4e00q6 90 3 should should MD cord-014712-5u4e00q6 90 4 remember remember VB cord-014712-5u4e00q6 90 5 that that IN cord-014712-5u4e00q6 90 6 more more RBR cord-014712-5u4e00q6 90 7 severe severe JJ cord-014712-5u4e00q6 90 8 side side NN cord-014712-5u4e00q6 90 9 effects effect NNS cord-014712-5u4e00q6 90 10 are be VBP cord-014712-5u4e00q6 90 11 also also RB cord-014712-5u4e00q6 90 12 possible possible JJ cord-014712-5u4e00q6 90 13 , , , cord-014712-5u4e00q6 90 14 for for IN cord-014712-5u4e00q6 90 15 example example NN cord-014712-5u4e00q6 90 16 : : : cord-014712-5u4e00q6 90 17 the the DT cord-014712-5u4e00q6 90 18 first first JJ cord-014712-5u4e00q6 90 19 CVID CVID NNP cord-014712-5u4e00q6 90 20 patient patient NN cord-014712-5u4e00q6 90 21 presented present VBN cord-014712-5u4e00q6 90 22 with with IN cord-014712-5u4e00q6 90 23 fever fever NN cord-014712-5u4e00q6 90 24 , , , cord-014712-5u4e00q6 90 25 weakness weakness NN cord-014712-5u4e00q6 90 26 , , , cord-014712-5u4e00q6 90 27 difficulties difficulty NNS cord-014712-5u4e00q6 90 28 in in IN cord-014712-5u4e00q6 90 29 breathing breathing NN cord-014712-5u4e00q6 90 30 during during IN cord-014712-5u4e00q6 90 31 the the DT cord-014712-5u4e00q6 90 32 3 3 CD cord-014712-5u4e00q6 90 33 following follow VBG cord-014712-5u4e00q6 90 34 infusions infusion NNS cord-014712-5u4e00q6 90 35 . . . cord-014712-5u4e00q6 91 1 Changing change VBG cord-014712-5u4e00q6 91 2 the the DT cord-014712-5u4e00q6 91 3 brand brand NN cord-014712-5u4e00q6 91 4 of of IN cord-014712-5u4e00q6 91 5 the the DT cord-014712-5u4e00q6 91 6 drug drug NN cord-014712-5u4e00q6 91 7 turned turn VBD cord-014712-5u4e00q6 91 8 out out RP cord-014712-5u4e00q6 91 9 to to TO cord-014712-5u4e00q6 91 10 be be VB cord-014712-5u4e00q6 91 11 a a DT cord-014712-5u4e00q6 91 12 sufficient sufficient JJ cord-014712-5u4e00q6 91 13 method method NN cord-014712-5u4e00q6 91 14 of of IN cord-014712-5u4e00q6 91 15 getting get VBG cord-014712-5u4e00q6 91 16 rid rid VBN cord-014712-5u4e00q6 91 17 of of IN cord-014712-5u4e00q6 91 18 side side NN cord-014712-5u4e00q6 91 19 effects effect NNS cord-014712-5u4e00q6 91 20 . . . cord-014712-5u4e00q6 92 1 The the DT cord-014712-5u4e00q6 92 2 second second JJ cord-014712-5u4e00q6 92 3 patient patient NN cord-014712-5u4e00q6 92 4 , , , cord-014712-5u4e00q6 92 5 also also RB cord-014712-5u4e00q6 92 6 with with IN cord-014712-5u4e00q6 92 7 CVID CVID NNP cord-014712-5u4e00q6 92 8 , , , cord-014712-5u4e00q6 92 9 suffered suffer VBD cord-014712-5u4e00q6 92 10 from from IN cord-014712-5u4e00q6 92 11 nausea nausea NN cord-014712-5u4e00q6 92 12 , , , cord-014712-5u4e00q6 92 13 headache headache NN cord-014712-5u4e00q6 92 14 , , , cord-014712-5u4e00q6 92 15 meningismus meningismus NNP cord-014712-5u4e00q6 92 16 . . . cord-014712-5u4e00q6 93 1 We -PRON- PRP cord-014712-5u4e00q6 93 2 changed change VBD cord-014712-5u4e00q6 93 3 the the DT cord-014712-5u4e00q6 93 4 drug drug NN cord-014712-5u4e00q6 93 5 brand brand NN cord-014712-5u4e00q6 93 6 , , , cord-014712-5u4e00q6 93 7 slowed slow VBD cord-014712-5u4e00q6 93 8 down down IN cord-014712-5u4e00q6 93 9 the the DT cord-014712-5u4e00q6 93 10 infusion infusion NN cord-014712-5u4e00q6 93 11 rate rate NN cord-014712-5u4e00q6 93 12 and and CC cord-014712-5u4e00q6 93 13 introduced introduce VBD cord-014712-5u4e00q6 93 14 premedication premedication NN cord-014712-5u4e00q6 93 15 with with IN cord-014712-5u4e00q6 93 16 an an DT cord-014712-5u4e00q6 93 17 antihistaminic antihistaminic NNP cord-014712-5u4e00q6 93 18 drug drug NN cord-014712-5u4e00q6 93 19 . . . cord-014712-5u4e00q6 94 1 The the DT cord-014712-5u4e00q6 94 2 third third JJ cord-014712-5u4e00q6 94 3 patienta patienta JJ cord-014712-5u4e00q6 94 4 girl girl NN cord-014712-5u4e00q6 94 5 with with IN cord-014712-5u4e00q6 94 6 DGS DGS NNP cord-014712-5u4e00q6 94 7 and and CC cord-014712-5u4e00q6 94 8 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 94 9 , , , cord-014712-5u4e00q6 94 10 after after IN cord-014712-5u4e00q6 94 11 having have VBG cord-014712-5u4e00q6 94 12 been be VBN cord-014712-5u4e00q6 94 13 operated operate VBN cord-014712-5u4e00q6 94 14 on on IN cord-014712-5u4e00q6 94 15 for for IN cord-014712-5u4e00q6 94 16 hypoplastic hypoplastic JJ cord-014712-5u4e00q6 94 17 left left JJ cord-014712-5u4e00q6 94 18 heart heart NN cord-014712-5u4e00q6 94 19 syndrome syndrome NN cord-014712-5u4e00q6 94 20 , , , cord-014712-5u4e00q6 94 21 responded respond VBD cord-014712-5u4e00q6 94 22 to to IN cord-014712-5u4e00q6 94 23 infusions infusion NNS cord-014712-5u4e00q6 94 24 with with IN cord-014712-5u4e00q6 94 25 high high JJ cord-014712-5u4e00q6 94 26 fever fever NN cord-014712-5u4e00q6 94 27 , , , cord-014712-5u4e00q6 94 28 muscle muscle NN cord-014712-5u4e00q6 94 29 and and CC cord-014712-5u4e00q6 94 30 joint joint JJ cord-014712-5u4e00q6 94 31 pain pain NN cord-014712-5u4e00q6 94 32 , , , cord-014712-5u4e00q6 94 33 skin skin NN cord-014712-5u4e00q6 94 34 changes change NNS cord-014712-5u4e00q6 94 35 ( ( -LRB- cord-014712-5u4e00q6 94 36 erythrodermia erythrodermia NN cord-014712-5u4e00q6 94 37 ) ) -RRB- cord-014712-5u4e00q6 94 38 . . . cord-014712-5u4e00q6 95 1 We -PRON- PRP cord-014712-5u4e00q6 95 2 introduced introduce VBD cord-014712-5u4e00q6 95 3 premedication premedication NN cord-014712-5u4e00q6 95 4 , , , cord-014712-5u4e00q6 95 5 changed change VBD cord-014712-5u4e00q6 95 6 the the DT cord-014712-5u4e00q6 95 7 drug drug NN cord-014712-5u4e00q6 95 8 brand brand NN cord-014712-5u4e00q6 95 9 and and CC cord-014712-5u4e00q6 95 10 slowed slow VBD cord-014712-5u4e00q6 95 11 the the DT cord-014712-5u4e00q6 95 12 infusion infusion NN cord-014712-5u4e00q6 95 13 rate rate NN cord-014712-5u4e00q6 95 14 , , , cord-014712-5u4e00q6 95 15 yet yet CC cord-014712-5u4e00q6 95 16 without without IN cord-014712-5u4e00q6 95 17 any any DT cord-014712-5u4e00q6 95 18 positive positive JJ cord-014712-5u4e00q6 95 19 effects effect NNS cord-014712-5u4e00q6 95 20 . . . cord-014712-5u4e00q6 96 1 In in IN cord-014712-5u4e00q6 96 2 two two CD cord-014712-5u4e00q6 96 3 patients patient NNS cord-014712-5u4e00q6 96 4 we -PRON- PRP cord-014712-5u4e00q6 96 5 observed observe VBD cord-014712-5u4e00q6 96 6 adverse adverse JJ cord-014712-5u4e00q6 96 7 reactions reaction NNS cord-014712-5u4e00q6 96 8 after after IN cord-014712-5u4e00q6 96 9 preparates preparate NNS cord-014712-5u4e00q6 96 10 at at IN cord-014712-5u4e00q6 96 11 a a DT cord-014712-5u4e00q6 96 12 concentration concentration NN cord-014712-5u4e00q6 96 13 of of IN cord-014712-5u4e00q6 96 14 twenty twenty CD cord-014712-5u4e00q6 96 15 percent percent NN cord-014712-5u4e00q6 96 16 . . . cord-014712-5u4e00q6 97 1 There there EX cord-014712-5u4e00q6 97 2 were be VBD cord-014712-5u4e00q6 97 3 : : : cord-014712-5u4e00q6 97 4 weakness weakness NN cord-014712-5u4e00q6 97 5 , , , cord-014712-5u4e00q6 97 6 chills chill NNS cord-014712-5u4e00q6 97 7 , , , cord-014712-5u4e00q6 97 8 fever fever NN cord-014712-5u4e00q6 97 9 , , , cord-014712-5u4e00q6 97 10 headache headache NN cord-014712-5u4e00q6 97 11 , , , cord-014712-5u4e00q6 97 12 and and CC cord-014712-5u4e00q6 97 13 very very RB cord-014712-5u4e00q6 97 14 intense intense JJ cord-014712-5u4e00q6 97 15 pain pain NN cord-014712-5u4e00q6 97 16 in in IN cord-014712-5u4e00q6 97 17 the the DT cord-014712-5u4e00q6 97 18 place place NN cord-014712-5u4e00q6 97 19 of of IN cord-014712-5u4e00q6 97 20 injection injection NN cord-014712-5u4e00q6 97 21 . . . cord-014712-5u4e00q6 98 1 During during IN cord-014712-5u4e00q6 98 2 the the DT cord-014712-5u4e00q6 98 3 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 98 4 treatment treatment NN cord-014712-5u4e00q6 98 5 of of IN cord-014712-5u4e00q6 98 6 XLA XLA NNP cord-014712-5u4e00q6 98 7 patients patient NNS cord-014712-5u4e00q6 98 8 , , , cord-014712-5u4e00q6 98 9 we -PRON- PRP cord-014712-5u4e00q6 98 10 observe observe VBP cord-014712-5u4e00q6 98 11 significant significant JJ cord-014712-5u4e00q6 98 12 reduction reduction NN cord-014712-5u4e00q6 98 13 in in IN cord-014712-5u4e00q6 98 14 the the DT cord-014712-5u4e00q6 98 15 number number NN cord-014712-5u4e00q6 98 16 of of IN cord-014712-5u4e00q6 98 17 infections infection NNS cord-014712-5u4e00q6 98 18 and and CC cord-014712-5u4e00q6 98 19 days day NNS cord-014712-5u4e00q6 98 20 of of IN cord-014712-5u4e00q6 98 21 school school NN cord-014712-5u4e00q6 98 22 absence absence NN cord-014712-5u4e00q6 98 23 . . . cord-014712-5u4e00q6 99 1 Despite despite IN cord-014712-5u4e00q6 99 2 that that DT cord-014712-5u4e00q6 99 3 , , , cord-014712-5u4e00q6 99 4 all all PDT cord-014712-5u4e00q6 99 5 our -PRON- PRP$ cord-014712-5u4e00q6 99 6 patients patient NNS cord-014712-5u4e00q6 99 7 with with IN cord-014712-5u4e00q6 99 8 XLA XLA NNP cord-014712-5u4e00q6 99 9 suffer suffer VBP cord-014712-5u4e00q6 99 10 from from IN cord-014712-5u4e00q6 99 11 chronic chronic JJ cord-014712-5u4e00q6 99 12 sinusitis sinusitis NN cord-014712-5u4e00q6 99 13 . . . cord-014712-5u4e00q6 100 1 Similar similar JJ cord-014712-5u4e00q6 100 2 results result NNS cord-014712-5u4e00q6 100 3 occurred occur VBD cord-014712-5u4e00q6 100 4 in in IN cord-014712-5u4e00q6 100 5 CVID CVID NNP cord-014712-5u4e00q6 100 6 patients patient NNS cord-014712-5u4e00q6 100 7 , , , cord-014712-5u4e00q6 100 8 but but CC cord-014712-5u4e00q6 100 9 the the DT cord-014712-5u4e00q6 100 10 severity severity NN cord-014712-5u4e00q6 100 11 of of IN cord-014712-5u4e00q6 100 12 infections infection NNS cord-014712-5u4e00q6 100 13 was be VBD cord-014712-5u4e00q6 100 14 the the DT cord-014712-5u4e00q6 100 15 same same JJ cord-014712-5u4e00q6 100 16 . . . cord-014712-5u4e00q6 101 1 The the DT cord-014712-5u4e00q6 101 2 use use NN cord-014712-5u4e00q6 101 3 of of IN cord-014712-5u4e00q6 101 4 SCIG SCIG NNP cord-014712-5u4e00q6 101 5 results result NNS cord-014712-5u4e00q6 101 6 in in IN cord-014712-5u4e00q6 101 7 more more RBR cord-014712-5u4e00q6 101 8 stable stable JJ cord-014712-5u4e00q6 101 9 and and CC cord-014712-5u4e00q6 101 10 higher high JJR cord-014712-5u4e00q6 101 11 IgG igg NN cord-014712-5u4e00q6 101 12 through through IN cord-014712-5u4e00q6 101 13 levels level NNS cord-014712-5u4e00q6 101 14 especially especially RB cord-014712-5u4e00q6 101 15 in in IN cord-014712-5u4e00q6 101 16 XLA XLA NNP cord-014712-5u4e00q6 101 17 patients patient NNS cord-014712-5u4e00q6 101 18 . . . cord-014712-5u4e00q6 102 1 In in IN cord-014712-5u4e00q6 102 2 our -PRON- PRP$ cord-014712-5u4e00q6 102 3 practice practice NN cord-014712-5u4e00q6 102 4 , , , cord-014712-5u4e00q6 102 5 we -PRON- PRP cord-014712-5u4e00q6 102 6 had have VBD cord-014712-5u4e00q6 102 7 only only RB cord-014712-5u4e00q6 102 8 a a DT cord-014712-5u4e00q6 102 9 few few JJ cord-014712-5u4e00q6 102 10 cases case NNS cord-014712-5u4e00q6 102 11 in in IN cord-014712-5u4e00q6 102 12 which which WDT cord-014712-5u4e00q6 102 13 IV IV NNP cord-014712-5u4e00q6 102 14 form form NN cord-014712-5u4e00q6 102 15 appeared appear VBD cord-014712-5u4e00q6 102 16 to to TO cord-014712-5u4e00q6 102 17 be be VB cord-014712-5u4e00q6 102 18 better well JJR cord-014712-5u4e00q6 102 19 than than IN cord-014712-5u4e00q6 102 20 SC SC NNP cord-014712-5u4e00q6 102 21 one one CD cord-014712-5u4e00q6 102 22 . . . cord-014712-5u4e00q6 103 1 In in IN cord-014712-5u4e00q6 103 2 the the DT cord-014712-5u4e00q6 103 3 case case NN cord-014712-5u4e00q6 103 4 of of IN cord-014712-5u4e00q6 103 5 two two CD cord-014712-5u4e00q6 103 6 boys boy NNS cord-014712-5u4e00q6 103 7 with with IN cord-014712-5u4e00q6 103 8 HIGM HIGM NNP cord-014712-5u4e00q6 103 9 syndrome syndrome NN cord-014712-5u4e00q6 103 10 , , , cord-014712-5u4e00q6 103 11 we -PRON- PRP cord-014712-5u4e00q6 103 12 observed observe VBD cord-014712-5u4e00q6 103 13 recurrent recurrent JJ cord-014712-5u4e00q6 103 14 enthesitis enthesitis NN cord-014712-5u4e00q6 103 15 of of IN cord-014712-5u4e00q6 103 16 the the DT cord-014712-5u4e00q6 103 17 first first JJ cord-014712-5u4e00q6 103 18 patient patient NN cord-014712-5u4e00q6 103 19 and and CC cord-014712-5u4e00q6 103 20 progression progression NN cord-014712-5u4e00q6 103 21 of of IN cord-014712-5u4e00q6 103 22 lung lung NN cord-014712-5u4e00q6 103 23 fibrosis fibrosis NN cord-014712-5u4e00q6 103 24 of of IN cord-014712-5u4e00q6 103 25 the the DT cord-014712-5u4e00q6 103 26 other other JJ cord-014712-5u4e00q6 103 27 . . . cord-014712-5u4e00q6 104 1 IVIG IVIG NNP cord-014712-5u4e00q6 104 2 was be VBD cord-014712-5u4e00q6 104 3 better well JJR cord-014712-5u4e00q6 104 4 to to TO cord-014712-5u4e00q6 104 5 control control VB cord-014712-5u4e00q6 104 6 platelets platelet NNS cord-014712-5u4e00q6 104 7 levels level NNS cord-014712-5u4e00q6 104 8 in in IN cord-014712-5u4e00q6 104 9 the the DT cord-014712-5u4e00q6 104 10 girl girl NN cord-014712-5u4e00q6 104 11 with with IN cord-014712-5u4e00q6 104 12 CVID CVID NNP cord-014712-5u4e00q6 104 13 and and CC cord-014712-5u4e00q6 104 14 thrombocytopenia thrombocytopenia NN cord-014712-5u4e00q6 104 15 . . . cord-014712-5u4e00q6 105 1 It -PRON- PRP cord-014712-5u4e00q6 105 2 has have VBZ cord-014712-5u4e00q6 105 3 also also RB cord-014712-5u4e00q6 105 4 occurred occur VBN cord-014712-5u4e00q6 105 5 that that IN cord-014712-5u4e00q6 105 6 parents parent NNS cord-014712-5u4e00q6 105 7 refuse refuse VBP cord-014712-5u4e00q6 105 8 to to TO cord-014712-5u4e00q6 105 9 allow allow VB cord-014712-5u4e00q6 105 10 us -PRON- PRP cord-014712-5u4e00q6 105 11 to to TO cord-014712-5u4e00q6 105 12 start start VB cord-014712-5u4e00q6 105 13 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 105 14 therapy therapy NN cord-014712-5u4e00q6 105 15 , , , cord-014712-5u4e00q6 105 16 giving give VBG cord-014712-5u4e00q6 105 17 two two CD cord-014712-5u4e00q6 105 18 main main JJ cord-014712-5u4e00q6 105 19 reasons reason NNS cord-014712-5u4e00q6 105 20 : : : cord-014712-5u4e00q6 105 21 they -PRON- PRP cord-014712-5u4e00q6 105 22 feel feel VBP cord-014712-5u4e00q6 105 23 safer safe JJR cord-014712-5u4e00q6 105 24 under under IN cord-014712-5u4e00q6 105 25 frequent frequent JJ cord-014712-5u4e00q6 105 26 doctor`s doctor`s NNP cord-014712-5u4e00q6 105 27 control control NN cord-014712-5u4e00q6 105 28 and and CC cord-014712-5u4e00q6 105 29 they -PRON- PRP cord-014712-5u4e00q6 105 30 are be VBP cord-014712-5u4e00q6 105 31 afraid afraid JJ cord-014712-5u4e00q6 105 32 of of IN cord-014712-5u4e00q6 105 33 making make VBG cord-014712-5u4e00q6 105 34 mistakes mistake NNS cord-014712-5u4e00q6 105 35 in in IN cord-014712-5u4e00q6 105 36 procedures procedure NNS cord-014712-5u4e00q6 105 37 . . . cord-014712-5u4e00q6 106 1 As as IN cord-014712-5u4e00q6 106 2 for for IN cord-014712-5u4e00q6 106 3 the the DT cord-014712-5u4e00q6 106 4 youngest young JJS cord-014712-5u4e00q6 106 5 children child NNS cord-014712-5u4e00q6 106 6 ( ( -LRB- cord-014712-5u4e00q6 106 7 below below IN cord-014712-5u4e00q6 106 8 7)their 7)their JJ cord-014712-5u4e00q6 106 9 fear fear NN cord-014712-5u4e00q6 106 10 of of IN cord-014712-5u4e00q6 106 11 needle needle NN cord-014712-5u4e00q6 106 12 is be VBZ cord-014712-5u4e00q6 106 13 independent independent JJ cord-014712-5u4e00q6 106 14 of of IN cord-014712-5u4e00q6 106 15 its -PRON- PRP$ cord-014712-5u4e00q6 106 16 size size NN cord-014712-5u4e00q6 106 17 , , , cord-014712-5u4e00q6 106 18 which which WDT cord-014712-5u4e00q6 106 19 is be VBZ cord-014712-5u4e00q6 106 20 the the DT cord-014712-5u4e00q6 106 21 third third JJ cord-014712-5u4e00q6 106 22 reason reason NN cord-014712-5u4e00q6 106 23 . . . cord-014712-5u4e00q6 107 1 In in IN cord-014712-5u4e00q6 107 2 conclusion conclusion NN cord-014712-5u4e00q6 107 3 , , , cord-014712-5u4e00q6 107 4 we -PRON- PRP cord-014712-5u4e00q6 107 5 would would MD cord-014712-5u4e00q6 107 6 like like VB cord-014712-5u4e00q6 107 7 to to TO cord-014712-5u4e00q6 107 8 emphasize emphasize VB cord-014712-5u4e00q6 107 9 that that IN cord-014712-5u4e00q6 107 10 education education NN cord-014712-5u4e00q6 107 11 programmes programme NNS cord-014712-5u4e00q6 107 12 implemented implement VBN cord-014712-5u4e00q6 107 13 by by IN cord-014712-5u4e00q6 107 14 doctors doctor NNS cord-014712-5u4e00q6 107 15 and and CC cord-014712-5u4e00q6 107 16 nurses nurse NNS cord-014712-5u4e00q6 107 17 are be VBP cord-014712-5u4e00q6 107 18 essential essential JJ cord-014712-5u4e00q6 107 19 to to TO cord-014712-5u4e00q6 107 20 make make VB cord-014712-5u4e00q6 107 21 this this DT cord-014712-5u4e00q6 107 22 form form NN cord-014712-5u4e00q6 107 23 of of IN cord-014712-5u4e00q6 107 24 therapy therapy NN cord-014712-5u4e00q6 107 25 easier easy JJR cord-014712-5u4e00q6 107 26 , , , cord-014712-5u4e00q6 107 27 safer safe JJR cord-014712-5u4e00q6 107 28 and and CC cord-014712-5u4e00q6 107 29 more more RBR cord-014712-5u4e00q6 107 30 satisfying satisfying JJ cord-014712-5u4e00q6 107 31 for for IN cord-014712-5u4e00q6 107 32 patients patient NNS cord-014712-5u4e00q6 107 33 and and CC cord-014712-5u4e00q6 107 34 their -PRON- PRP$ cord-014712-5u4e00q6 107 35 parents parent NNS cord-014712-5u4e00q6 107 36 . . . cord-014712-5u4e00q6 108 1 Despite despite IN cord-014712-5u4e00q6 108 2 intensive intensive JJ cord-014712-5u4e00q6 108 3 investigation investigation NN cord-014712-5u4e00q6 108 4 into into IN cord-014712-5u4e00q6 108 5 the the DT cord-014712-5u4e00q6 108 6 nature nature NN cord-014712-5u4e00q6 108 7 of of IN cord-014712-5u4e00q6 108 8 CVID CVID NNP cord-014712-5u4e00q6 108 9 , , , cord-014712-5u4e00q6 108 10 the the DT cord-014712-5u4e00q6 108 11 exact exact JJ cord-014712-5u4e00q6 108 12 molecular molecular JJ cord-014712-5u4e00q6 108 13 defect(s defect(s NN cord-014712-5u4e00q6 108 14 ) ) -RRB- cord-014712-5u4e00q6 108 15 and and CC cord-014712-5u4e00q6 108 16 pathogenesis pathogenesis NN cord-014712-5u4e00q6 108 17 of of IN cord-014712-5u4e00q6 108 18 disease disease NN cord-014712-5u4e00q6 108 19 remain remain VBP cord-014712-5u4e00q6 108 20 unknown unknown JJ cord-014712-5u4e00q6 108 21 . . . cord-014712-5u4e00q6 109 1 Our -PRON- PRP$ cord-014712-5u4e00q6 109 2 aim aim NN cord-014712-5u4e00q6 109 3 was be VBD cord-014712-5u4e00q6 109 4 to to TO cord-014712-5u4e00q6 109 5 evaluate evaluate VB cord-014712-5u4e00q6 109 6 the the DT cord-014712-5u4e00q6 109 7 role role NN cord-014712-5u4e00q6 109 8 of of IN cord-014712-5u4e00q6 109 9 T T NNP cord-014712-5u4e00q6 109 10 cells cell NNS cord-014712-5u4e00q6 109 11 in in IN cord-014712-5u4e00q6 109 12 the the DT cord-014712-5u4e00q6 109 13 mechanisms mechanism NNS cord-014712-5u4e00q6 109 14 of of IN cord-014712-5u4e00q6 109 15 CVID CVID NNP cord-014712-5u4e00q6 109 16 development development NN cord-014712-5u4e00q6 109 17 . . . cord-014712-5u4e00q6 110 1 Additionally additionally RB cord-014712-5u4e00q6 110 2 the the DT cord-014712-5u4e00q6 110 3 impact impact NN cord-014712-5u4e00q6 110 4 of of IN cord-014712-5u4e00q6 110 5 some some DT cord-014712-5u4e00q6 110 6 innate innate JJ cord-014712-5u4e00q6 110 7 and and CC cord-014712-5u4e00q6 110 8 adaptive adaptive JJ cord-014712-5u4e00q6 110 9 immunity immunity NN cord-014712-5u4e00q6 110 10 related relate VBN cord-014712-5u4e00q6 110 11 genes gene NNS cord-014712-5u4e00q6 110 12 ( ( -LRB- cord-014712-5u4e00q6 110 13 HLA HLA NNP cord-014712-5u4e00q6 110 14 , , , cord-014712-5u4e00q6 110 15 cytokine cytokine NN cord-014712-5u4e00q6 110 16 gene gene NN cord-014712-5u4e00q6 110 17 polymorphism polymorphism NN cord-014712-5u4e00q6 110 18 , , , cord-014712-5u4e00q6 110 19 MBL MBL NNP cord-014712-5u4e00q6 110 20 genes gene NNS cord-014712-5u4e00q6 110 21 ) ) -RRB- cord-014712-5u4e00q6 110 22 was be VBD cord-014712-5u4e00q6 110 23 investigated investigate VBN cord-014712-5u4e00q6 110 24 . . . cord-014712-5u4e00q6 111 1 Based base VBN cord-014712-5u4e00q6 111 2 on on IN cord-014712-5u4e00q6 111 3 previously previously RB cord-014712-5u4e00q6 111 4 observed observe VBN cord-014712-5u4e00q6 111 5 by by IN cord-014712-5u4e00q6 111 6 us us NNP cord-014712-5u4e00q6 111 7 constellation constellation NNP cord-014712-5u4e00q6 111 8 of of IN cord-014712-5u4e00q6 111 9 shared share VBN cord-014712-5u4e00q6 111 10 immunogenetic immunogenetic JJ cord-014712-5u4e00q6 111 11 profiles profile VBZ cord-014712-5u4e00q6 111 12 a a DT cord-014712-5u4e00q6 111 13 comparison comparison NN cord-014712-5u4e00q6 111 14 of of IN cord-014712-5u4e00q6 111 15 T t NN cord-014712-5u4e00q6 111 16 - - HYPH cord-014712-5u4e00q6 111 17 cell cell NN cord-014712-5u4e00q6 111 18 phenotype phenotype NN cord-014712-5u4e00q6 111 19 of of IN cord-014712-5u4e00q6 111 20 CVID CVID NNP cord-014712-5u4e00q6 111 21 patients patient NNS cord-014712-5u4e00q6 111 22 , , , cord-014712-5u4e00q6 111 23 and and CC cord-014712-5u4e00q6 111 24 elderly elderly JJ cord-014712-5u4e00q6 111 25 / / SYM cord-014712-5u4e00q6 111 26 young young JJ cord-014712-5u4e00q6 111 27 healthy healthy JJ cord-014712-5u4e00q6 111 28 individuals individual NNS cord-014712-5u4e00q6 111 29 was be VBD cord-014712-5u4e00q6 111 30 performed perform VBN cord-014712-5u4e00q6 111 31 . . . cord-014712-5u4e00q6 112 1 Ten ten CD cord-014712-5u4e00q6 112 2 patients patient NNS cord-014712-5u4e00q6 112 3 with with IN cord-014712-5u4e00q6 112 4 CVID CVID NNP cord-014712-5u4e00q6 112 5 were be VBD cord-014712-5u4e00q6 112 6 enrolled enrol VBN cord-014712-5u4e00q6 112 7 ( ( -LRB- cord-014712-5u4e00q6 112 8 4 4 CD cord-014712-5u4e00q6 112 9 male male NN cord-014712-5u4e00q6 112 10 , , , cord-014712-5u4e00q6 112 11 6 6 CD cord-014712-5u4e00q6 112 12 female female JJ cord-014712-5u4e00q6 112 13 ; ; : cord-014712-5u4e00q6 112 14 average average JJ cord-014712-5u4e00q6 112 15 age age NN cord-014712-5u4e00q6 112 16 -42,9 -42,9 NN cord-014712-5u4e00q6 112 17 years year NNS cord-014712-5u4e00q6 112 18 ) ) -RRB- cord-014712-5u4e00q6 112 19 presented present VBN cord-014712-5u4e00q6 112 20 mainly mainly RB cord-014712-5u4e00q6 112 21 with with IN cord-014712-5u4e00q6 112 22 pulmonary pulmonary JJ cord-014712-5u4e00q6 112 23 infections infection NNS cord-014712-5u4e00q6 112 24 , , , cord-014712-5u4e00q6 112 25 followed follow VBN cord-014712-5u4e00q6 112 26 by by IN cord-014712-5u4e00q6 112 27 bronchoectasis bronchoectasis NN cord-014712-5u4e00q6 112 28 and and CC cord-014712-5u4e00q6 112 29 splenomegaly splenomegaly NN cord-014712-5u4e00q6 112 30 . . . cord-014712-5u4e00q6 113 1 Our -PRON- PRP$ cord-014712-5u4e00q6 113 2 study study NN cord-014712-5u4e00q6 113 3 demonstrated demonstrate VBD cord-014712-5u4e00q6 113 4 multiple multiple JJ cord-014712-5u4e00q6 113 5 T T NNP cord-014712-5u4e00q6 113 6 - - HYPH cord-014712-5u4e00q6 113 7 and and CC cord-014712-5u4e00q6 113 8 B b NN cord-014712-5u4e00q6 113 9 - - HYPH cord-014712-5u4e00q6 113 10 cell cell NN cord-014712-5u4e00q6 113 11 abnormalities abnormality NNS cord-014712-5u4e00q6 113 12 in in IN cord-014712-5u4e00q6 113 13 CVID CVID NNP cord-014712-5u4e00q6 113 14 patients patient NNS cord-014712-5u4e00q6 113 15 such such JJ cord-014712-5u4e00q6 113 16 as as IN cord-014712-5u4e00q6 113 17 : : : cord-014712-5u4e00q6 113 18 decreased decrease VBD cord-014712-5u4e00q6 113 19 CD4 CD4 NNP cord-014712-5u4e00q6 113 20 + + CC cord-014712-5u4e00q6 113 21 , , , cord-014712-5u4e00q6 113 22 increased increase VBD cord-014712-5u4e00q6 113 23 CD8 CD8 NNP cord-014712-5u4e00q6 113 24 + + CC cord-014712-5u4e00q6 113 25 T T NNP cord-014712-5u4e00q6 113 26 cells cell NNS cord-014712-5u4e00q6 113 27 and and CC cord-014712-5u4e00q6 113 28 low low JJ cord-014712-5u4e00q6 113 29 CD4 CD4 NNP cord-014712-5u4e00q6 113 30 / / SYM cord-014712-5u4e00q6 113 31 CD8 CD8 NNP cord-014712-5u4e00q6 113 32 ratio ratio NN cord-014712-5u4e00q6 113 33 , , , cord-014712-5u4e00q6 113 34 loss loss NN cord-014712-5u4e00q6 113 35 of of IN cord-014712-5u4e00q6 113 36 naïve naïve JJ cord-014712-5u4e00q6 113 37 and and CC cord-014712-5u4e00q6 113 38 early early JJ cord-014712-5u4e00q6 113 39 differentiated differentiate VBN cord-014712-5u4e00q6 113 40 T t NN cord-014712-5u4e00q6 113 41 cells cell NNS cord-014712-5u4e00q6 113 42 , , , cord-014712-5u4e00q6 113 43 expansion expansion NN cord-014712-5u4e00q6 113 44 of of IN cord-014712-5u4e00q6 113 45 terminal terminal JJ cord-014712-5u4e00q6 113 46 effectors effector NNS cord-014712-5u4e00q6 113 47 ( ( -LRB- cord-014712-5u4e00q6 113 48 CD8 CD8 NNP cord-014712-5u4e00q6 113 49 + + CC cord-014712-5u4e00q6 114 1 CD45RA cd45ra NN cord-014712-5u4e00q6 115 1 + + CC cord-014712-5u4e00q6 115 2 CD62L- cd62l- NN cord-014712-5u4e00q6 115 3 ) ) -RRB- cord-014712-5u4e00q6 115 4 T t NN cord-014712-5u4e00q6 115 5 cells cell NNS cord-014712-5u4e00q6 115 6 , , , cord-014712-5u4e00q6 115 7 memory memory NN cord-014712-5u4e00q6 115 8 / / SYM cord-014712-5u4e00q6 115 9 effectors effector NNS cord-014712-5u4e00q6 115 10 ( ( -LRB- cord-014712-5u4e00q6 115 11 CD8 CD8 NNP cord-014712-5u4e00q6 115 12 + + SYM cord-014712-5u4e00q6 115 13 CD28-CD27- CD28-CD27- NNP cord-014712-5u4e00q6 115 14 ) ) -RRB- cord-014712-5u4e00q6 115 15 and and CC cord-014712-5u4e00q6 115 16 terminally terminally RB cord-014712-5u4e00q6 115 17 differentiated differentiated JJ cord-014712-5u4e00q6 115 18 ( ( -LRB- cord-014712-5u4e00q6 116 1 CD8 CD8 NNP cord-014712-5u4e00q6 116 2 + + CC cord-014712-5u4e00q6 116 3 CD57 CD57 NNP cord-014712-5u4e00q6 116 4 + + SYM cord-014712-5u4e00q6 116 5 ) ) -RRB- cord-014712-5u4e00q6 116 6 T t NN cord-014712-5u4e00q6 116 7 cells cell NNS cord-014712-5u4e00q6 116 8 . . . cord-014712-5u4e00q6 117 1 Excessive excessive JJ cord-014712-5u4e00q6 117 2 T t NN cord-014712-5u4e00q6 117 3 - - HYPH cord-014712-5u4e00q6 117 4 cell cell NN cord-014712-5u4e00q6 117 5 activation activation NN cord-014712-5u4e00q6 117 6 reflecting reflect VBG cord-014712-5u4e00q6 117 7 the the DT cord-014712-5u4e00q6 117 8 prevalence prevalence NN cord-014712-5u4e00q6 117 9 of of IN cord-014712-5u4e00q6 117 10 activated activate VBN cord-014712-5u4e00q6 117 11 T T NNP cord-014712-5u4e00q6 117 12 cell cell NN cord-014712-5u4e00q6 117 13 phenotype phenotype NN cord-014712-5u4e00q6 117 14 was be VBD cord-014712-5u4e00q6 117 15 also also RB cord-014712-5u4e00q6 117 16 detected detect VBN cord-014712-5u4e00q6 117 17 , , , cord-014712-5u4e00q6 117 18 due due JJ cord-014712-5u4e00q6 117 19 perhaps perhaps RB cord-014712-5u4e00q6 117 20 to to IN cord-014712-5u4e00q6 117 21 an an DT cord-014712-5u4e00q6 117 22 antigen antigen NN cord-014712-5u4e00q6 117 23 - - HYPH cord-014712-5u4e00q6 117 24 driven drive VBN cord-014712-5u4e00q6 117 25 process process NN cord-014712-5u4e00q6 117 26 . . . cord-014712-5u4e00q6 118 1 The the DT cord-014712-5u4e00q6 118 2 very very RB cord-014712-5u4e00q6 118 3 low low JJ cord-014712-5u4e00q6 118 4 numbers number NNS cord-014712-5u4e00q6 118 5 of of IN cord-014712-5u4e00q6 118 6 circulating circulate VBG cord-014712-5u4e00q6 118 7 mature mature NN cord-014712-5u4e00q6 119 1 ( ( -LRB- cord-014712-5u4e00q6 119 2 CD21 CD21 NNP cord-014712-5u4e00q6 119 3 + + CC cord-014712-5u4e00q6 119 4 CD24 CD24 NNP cord-014712-5u4e00q6 119 5 + + SYM cord-014712-5u4e00q6 119 6 ) ) -RRB- cord-014712-5u4e00q6 119 7 and and CC cord-014712-5u4e00q6 119 8 class class NN cord-014712-5u4e00q6 119 9 - - HYPH cord-014712-5u4e00q6 119 10 switched switch VBN cord-014712-5u4e00q6 119 11 memory memory NN cord-014712-5u4e00q6 120 1 ( ( -LRB- cord-014712-5u4e00q6 120 2 IgM IgM NNP cord-014712-5u4e00q6 120 3 - - HYPH cord-014712-5u4e00q6 120 4 IgD IgD NNP cord-014712-5u4e00q6 120 5 - - HYPH cord-014712-5u4e00q6 120 6 CD27 CD27 NNP cord-014712-5u4e00q6 120 7 + + . cord-014712-5u4e00q6 121 1 ) ) -RRB- cord-014712-5u4e00q6 121 2 B b NN cord-014712-5u4e00q6 121 3 cells cell NNS cord-014712-5u4e00q6 121 4 were be VBD cord-014712-5u4e00q6 121 5 pathognomic pathognomic JJ cord-014712-5u4e00q6 121 6 for for IN cord-014712-5u4e00q6 121 7 our -PRON- PRP$ cord-014712-5u4e00q6 121 8 patients patient NNS cord-014712-5u4e00q6 121 9 and and CC cord-014712-5u4e00q6 121 10 could could MD cord-014712-5u4e00q6 121 11 be be VB cord-014712-5u4e00q6 121 12 used use VBN cord-014712-5u4e00q6 121 13 as as IN cord-014712-5u4e00q6 121 14 an an DT cord-014712-5u4e00q6 121 15 additional additional JJ cord-014712-5u4e00q6 121 16 diagnostic diagnostic JJ cord-014712-5u4e00q6 121 17 criteria criterion NNS cord-014712-5u4e00q6 121 18 in in IN cord-014712-5u4e00q6 121 19 the the DT cord-014712-5u4e00q6 121 20 national national JJ cord-014712-5u4e00q6 121 21 guidelines guideline NNS cord-014712-5u4e00q6 121 22 . . . cord-014712-5u4e00q6 122 1 Furthermore furthermore RB cord-014712-5u4e00q6 122 2 high high JJ cord-014712-5u4e00q6 122 3 level level NN cord-014712-5u4e00q6 122 4 of of IN cord-014712-5u4e00q6 122 5 nonclass nonclass NNP cord-014712-5u4e00q6 122 6 switched switch VBN cord-014712-5u4e00q6 122 7 ( ( -LRB- cord-014712-5u4e00q6 122 8 IgM IgM NNP cord-014712-5u4e00q6 122 9 + + CC cord-014712-5u4e00q6 122 10 IgD IgD NNP cord-014712-5u4e00q6 123 1 + + CC cord-014712-5u4e00q6 124 1 CD27 CD27 NNP cord-014712-5u4e00q6 124 2 + + JJ cord-014712-5u4e00q6 124 3 ) ) -RRB- cord-014712-5u4e00q6 125 1 B b NN cord-014712-5u4e00q6 125 2 memory memory NN cord-014712-5u4e00q6 125 3 cells cell NNS cord-014712-5u4e00q6 125 4 and and CC cord-014712-5u4e00q6 125 5 suppressed suppress VBD cord-014712-5u4e00q6 125 6 NK NK NNP cord-014712-5u4e00q6 125 7 cell cell NN cord-014712-5u4e00q6 125 8 count count NN cord-014712-5u4e00q6 125 9 was be VBD cord-014712-5u4e00q6 125 10 observed observe VBN cord-014712-5u4e00q6 125 11 . . . cord-014712-5u4e00q6 126 1 Decreased decrease VBN cord-014712-5u4e00q6 126 2 responsiveness responsiveness NN cord-014712-5u4e00q6 126 3 to to IN cord-014712-5u4e00q6 126 4 polyclonal polyclonal JJ cord-014712-5u4e00q6 126 5 stimuli stimulus NNS cord-014712-5u4e00q6 126 6 via via IN cord-014712-5u4e00q6 126 7 CD3 CD3 NNP cord-014712-5u4e00q6 126 8 and and CC cord-014712-5u4e00q6 126 9 CD28 CD28 NNP cord-014712-5u4e00q6 126 10 pathway pathway NN cord-014712-5u4e00q6 126 11 correlated correlate VBN cord-014712-5u4e00q6 126 12 with with IN cord-014712-5u4e00q6 126 13 the the DT cord-014712-5u4e00q6 126 14 loss loss NN cord-014712-5u4e00q6 126 15 of of IN cord-014712-5u4e00q6 126 16 CD28 CD28 NNP cord-014712-5u4e00q6 126 17 expression expression NN cord-014712-5u4e00q6 126 18 which which WDT cord-014712-5u4e00q6 126 19 was be VBD cord-014712-5u4e00q6 126 20 more more RBR cord-014712-5u4e00q6 126 21 pronounced pronounced JJ cord-014712-5u4e00q6 126 22 in in IN cord-014712-5u4e00q6 126 23 the the DT cord-014712-5u4e00q6 126 24 treatmentnaïve treatmentnaïve NN cord-014712-5u4e00q6 126 25 CVID CVID NNP cord-014712-5u4e00q6 126 26 patients patient NNS cord-014712-5u4e00q6 126 27 . . . cord-014712-5u4e00q6 127 1 These these DT cord-014712-5u4e00q6 127 2 findings finding NNS cord-014712-5u4e00q6 127 3 were be VBD cord-014712-5u4e00q6 127 4 further further RB cord-014712-5u4e00q6 127 5 discussed discuss VBN cord-014712-5u4e00q6 127 6 in in IN cord-014712-5u4e00q6 127 7 the the DT cord-014712-5u4e00q6 127 8 context context NN cord-014712-5u4e00q6 127 9 of of IN cord-014712-5u4e00q6 127 10 the the DT cord-014712-5u4e00q6 127 11 similarities similarity NNS cord-014712-5u4e00q6 127 12 that that WDT cord-014712-5u4e00q6 127 13 exist exist VBP cord-014712-5u4e00q6 127 14 along along IN cord-014712-5u4e00q6 127 15 with with IN cord-014712-5u4e00q6 127 16 markers marker NNS cord-014712-5u4e00q6 127 17 for for IN cord-014712-5u4e00q6 127 18 immune immune JJ cord-014712-5u4e00q6 127 19 senescence senescence NN cord-014712-5u4e00q6 127 20 ( ( -LRB- cord-014712-5u4e00q6 127 21 lack lack NN cord-014712-5u4e00q6 127 22 of of IN cord-014712-5u4e00q6 127 23 CD28 CD28 NNP cord-014712-5u4e00q6 127 24 or or CC cord-014712-5u4e00q6 127 25 expression expression NN cord-014712-5u4e00q6 127 26 of of IN cord-014712-5u4e00q6 127 27 CD57 CD57 NNP cord-014712-5u4e00q6 127 28 ) ) -RRB- cord-014712-5u4e00q6 127 29 . . . cord-014712-5u4e00q6 128 1 Increased increase VBN cord-014712-5u4e00q6 128 2 frequency frequency NN cord-014712-5u4e00q6 128 3 of of IN cord-014712-5u4e00q6 128 4 IFN IFN NNP cord-014712-5u4e00q6 128 5 - - HYPH cord-014712-5u4e00q6 128 6 γ γ NN cord-014712-5u4e00q6 128 7 polymorphisms polymorphism NNS cord-014712-5u4e00q6 128 8 associated associate VBN cord-014712-5u4e00q6 128 9 with with IN cord-014712-5u4e00q6 128 10 low low JJ cord-014712-5u4e00q6 128 11 expression expression NN cord-014712-5u4e00q6 128 12 level level NN cord-014712-5u4e00q6 128 13 found find VBN cord-014712-5u4e00q6 128 14 could could MD cord-014712-5u4e00q6 128 15 indicate indicate VB cord-014712-5u4e00q6 128 16 genetically genetically RB cord-014712-5u4e00q6 128 17 predisposition predisposition NN cord-014712-5u4e00q6 128 18 to to IN cord-014712-5u4e00q6 128 19 high high JJ cord-014712-5u4e00q6 128 20 activation activation NN cord-014712-5u4e00q6 128 21 of of IN cord-014712-5u4e00q6 128 22 TH2 TH2 NNP cord-014712-5u4e00q6 128 23 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 128 24 in in IN cord-014712-5u4e00q6 128 25 CVID CVID NNP cord-014712-5u4e00q6 128 26 and and CC cord-014712-5u4e00q6 128 27 consequently consequently RB cord-014712-5u4e00q6 128 28 support support VBP cord-014712-5u4e00q6 128 29 the the DT cord-014712-5u4e00q6 128 30 concept concept NN cord-014712-5u4e00q6 128 31 of of IN cord-014712-5u4e00q6 128 32 impaired impaired JJ cord-014712-5u4e00q6 128 33 TH1-type th1-type NN cord-014712-5u4e00q6 128 34 responses response NNS cord-014712-5u4e00q6 128 35 . . . cord-014712-5u4e00q6 129 1 In in IN cord-014712-5u4e00q6 129 2 conclusion conclusion NN cord-014712-5u4e00q6 129 3 our -PRON- PRP$ cord-014712-5u4e00q6 129 4 study study NN cord-014712-5u4e00q6 129 5 provided provide VBD cord-014712-5u4e00q6 129 6 new new JJ cord-014712-5u4e00q6 129 7 insight insight NN cord-014712-5u4e00q6 129 8 into into IN cord-014712-5u4e00q6 129 9 the the DT cord-014712-5u4e00q6 129 10 pathogenesis pathogenesis NN cord-014712-5u4e00q6 129 11 of of IN cord-014712-5u4e00q6 129 12 CVID CVID NNP cord-014712-5u4e00q6 129 13 . . . cord-014712-5u4e00q6 130 1 This this DT cord-014712-5u4e00q6 130 2 work work NN cord-014712-5u4e00q6 130 3 was be VBD cord-014712-5u4e00q6 130 4 partially partially RB cord-014712-5u4e00q6 130 5 granted grant VBN cord-014712-5u4e00q6 130 6 by by IN cord-014712-5u4e00q6 130 7 Medical Medical NNP cord-014712-5u4e00q6 130 8 University University NNP cord-014712-5u4e00q6 130 9 Sofia Sofia NNP cord-014712-5u4e00q6 130 10 , , , cord-014712-5u4e00q6 130 11 Grant#55 Grant#55 NNP cord-014712-5u4e00q6 130 12 BCG BCG NNP cord-014712-5u4e00q6 130 13 vaccination vaccination NN cord-014712-5u4e00q6 130 14 at at IN cord-014712-5u4e00q6 130 15 birth birth NN cord-014712-5u4e00q6 130 16 is be VBZ cord-014712-5u4e00q6 130 17 the the DT cord-014712-5u4e00q6 130 18 constant constant JJ cord-014712-5u4e00q6 130 19 element element NN cord-014712-5u4e00q6 130 20 of of IN cord-014712-5u4e00q6 130 21 vaccination vaccination NN cord-014712-5u4e00q6 130 22 programmes programme NNS cord-014712-5u4e00q6 130 23 in in IN cord-014712-5u4e00q6 130 24 Poland Poland NNP cord-014712-5u4e00q6 130 25 . . . cord-014712-5u4e00q6 131 1 High high JJ cord-014712-5u4e00q6 131 2 reactogenic reactogenic NN cord-014712-5u4e00q6 131 3 BCG BCG NNP cord-014712-5u4e00q6 131 4 Danish danish JJ cord-014712-5u4e00q6 131 5 vaccine vaccine NN cord-014712-5u4e00q6 131 6 has have VBZ cord-014712-5u4e00q6 131 7 been be VBN cord-014712-5u4e00q6 131 8 replaced replace VBN cord-014712-5u4e00q6 131 9 in in IN cord-014712-5u4e00q6 131 10 1955 1955 CD cord-014712-5u4e00q6 131 11 , , , cord-014712-5u4e00q6 131 12 by by IN cord-014712-5u4e00q6 131 13 BCG BCG NNP cord-014712-5u4e00q6 131 14 Moreau Moreau NNP cord-014712-5u4e00q6 131 15 vaccine vaccine NN cord-014712-5u4e00q6 131 16 . . . cord-014712-5u4e00q6 132 1 Frequency frequency NN cord-014712-5u4e00q6 132 2 of of IN cord-014712-5u4e00q6 132 3 disseminated disseminate VBN cord-014712-5u4e00q6 132 4 BCG BCG NNP cord-014712-5u4e00q6 132 5 infection infection NN cord-014712-5u4e00q6 132 6 , , , cord-014712-5u4e00q6 132 7 in in IN cord-014712-5u4e00q6 132 8 children child NNS cord-014712-5u4e00q6 132 9 with with IN cord-014712-5u4e00q6 132 10 primary primary JJ cord-014712-5u4e00q6 132 11 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 132 12 after after IN cord-014712-5u4e00q6 132 13 BCG BCG NNP cord-014712-5u4e00q6 132 14 Moreau Moreau NNP cord-014712-5u4e00q6 132 15 vaccine vaccine NN cord-014712-5u4e00q6 132 16 manufactured manufacture VBN cord-014712-5u4e00q6 132 17 by by IN cord-014712-5u4e00q6 132 18 Biomed Biomed NNP cord-014712-5u4e00q6 132 19 , , , cord-014712-5u4e00q6 132 20 Poland Poland NNP cord-014712-5u4e00q6 132 21 were be VBD cord-014712-5u4e00q6 132 22 estimated estimate VBN cord-014712-5u4e00q6 132 23 . . . cord-014712-5u4e00q6 133 1 One one CD cord-014712-5u4e00q6 133 2 thousand thousand CD cord-014712-5u4e00q6 133 3 five five CD cord-014712-5u4e00q6 133 4 hundred hundred CD cord-014712-5u4e00q6 133 5 sixty sixty CD cord-014712-5u4e00q6 133 6 three three CD cord-014712-5u4e00q6 133 7 cases case NNS cord-014712-5u4e00q6 133 8 of of IN cord-014712-5u4e00q6 133 9 primary primary JJ cord-014712-5u4e00q6 133 10 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 133 11 were be VBD cord-014712-5u4e00q6 133 12 diagnosed diagnose VBN cord-014712-5u4e00q6 133 13 in in IN cord-014712-5u4e00q6 133 14 the the DT cord-014712-5u4e00q6 133 15 Department Department NNP cord-014712-5u4e00q6 133 16 of of IN cord-014712-5u4e00q6 133 17 Immunology Immunology NNP cord-014712-5u4e00q6 133 18 , , , cord-014712-5u4e00q6 133 19 Children Children NNP cord-014712-5u4e00q6 133 20 's 's POS cord-014712-5u4e00q6 133 21 Memorial Memorial NNP cord-014712-5u4e00q6 133 22 Health Health NNP cord-014712-5u4e00q6 133 23 Institute Institute NNP cord-014712-5u4e00q6 133 24 in in IN cord-014712-5u4e00q6 133 25 Warsaw Warsaw NNP cord-014712-5u4e00q6 133 26 between between IN cord-014712-5u4e00q6 133 27 1980 1980 CD cord-014712-5u4e00q6 133 28 -2013 -2013 NNS cord-014712-5u4e00q6 133 29 . . . cord-014712-5u4e00q6 134 1 Among among IN cord-014712-5u4e00q6 134 2 patients patient NNS cord-014712-5u4e00q6 134 3 with with IN cord-014712-5u4e00q6 134 4 T T NNP cord-014712-5u4e00q6 134 5 cell cell NN cord-014712-5u4e00q6 134 6 predominant predominant JJ cord-014712-5u4e00q6 134 7 deficiency deficiency NN cord-014712-5u4e00q6 134 8 , , , cord-014712-5u4e00q6 134 9 group group NN cord-014712-5u4e00q6 134 10 high high JJ cord-014712-5u4e00q6 134 11 risk risk NN cord-014712-5u4e00q6 134 12 of of IN cord-014712-5u4e00q6 134 13 BCG BCG NNP cord-014712-5u4e00q6 134 14 infection infection NN cord-014712-5u4e00q6 134 15 , , , cord-014712-5u4e00q6 134 16 SCID SCID NNP cord-014712-5u4e00q6 134 17 was be VBD cord-014712-5u4e00q6 134 18 recognized recognize VBN cord-014712-5u4e00q6 134 19 in in IN cord-014712-5u4e00q6 134 20 62 62 CD cord-014712-5u4e00q6 134 21 children child NNS cord-014712-5u4e00q6 134 22 . . . cord-014712-5u4e00q6 135 1 Mendelian mendelian JJ cord-014712-5u4e00q6 135 2 susceptibility susceptibility NN cord-014712-5u4e00q6 135 3 to to IN cord-014712-5u4e00q6 135 4 mycobactarial mycobactarial JJ cord-014712-5u4e00q6 135 5 diseases disease NNS cord-014712-5u4e00q6 135 6 ( ( -LRB- cord-014712-5u4e00q6 135 7 MSMD MSMD NNP cord-014712-5u4e00q6 135 8 ) ) -RRB- cord-014712-5u4e00q6 135 9 was be VBD cord-014712-5u4e00q6 135 10 detected detect VBN cord-014712-5u4e00q6 135 11 in in IN cord-014712-5u4e00q6 135 12 four four CD cord-014712-5u4e00q6 135 13 patients patient NNS cord-014712-5u4e00q6 135 14 : : : cord-014712-5u4e00q6 136 1 IFGR1 IFGR1 NNP cord-014712-5u4e00q6 136 2 deficiency deficiency NN cord-014712-5u4e00q6 136 3 and and CC cord-014712-5u4e00q6 136 4 IL12 IL12 NNP cord-014712-5u4e00q6 136 5 deficiency deficiency NN cord-014712-5u4e00q6 136 6 -equally -equally NN cord-014712-5u4e00q6 137 1 in in IN cord-014712-5u4e00q6 137 2 two two CD cord-014712-5u4e00q6 137 3 patients patient NNS cord-014712-5u4e00q6 137 4 , , , cord-014712-5u4e00q6 137 5 and and CC cord-014712-5u4e00q6 137 6 NEMO NEMO NNP cord-014712-5u4e00q6 137 7 -in -in HYPH cord-014712-5u4e00q6 137 8 one one CD cord-014712-5u4e00q6 137 9 . . . cord-014712-5u4e00q6 138 1 In in IN cord-014712-5u4e00q6 138 2 the the DT cord-014712-5u4e00q6 138 3 group group NN cord-014712-5u4e00q6 138 4 of of IN cord-014712-5u4e00q6 138 5 primary primary JJ cord-014712-5u4e00q6 138 6 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 138 7 regarded regard VBN cord-014712-5u4e00q6 138 8 to to TO cord-014712-5u4e00q6 138 9 be be VB cord-014712-5u4e00q6 138 10 less less RBR cord-014712-5u4e00q6 138 11 prone prone JJ cord-014712-5u4e00q6 138 12 to to IN cord-014712-5u4e00q6 138 13 Mycobacterium Mycobacterium NNP cord-014712-5u4e00q6 138 14 infections infection NNS cord-014712-5u4e00q6 138 15 , , , cord-014712-5u4e00q6 138 16 CGD CGD NNP cord-014712-5u4e00q6 138 17 was be VBD cord-014712-5u4e00q6 138 18 diagnosed diagnose VBN cord-014712-5u4e00q6 138 19 in52 in52 NNP cord-014712-5u4e00q6 138 20 , , , cord-014712-5u4e00q6 138 21 HIES HIES NNP cord-014712-5u4e00q6 138 22 in in IN cord-014712-5u4e00q6 138 23 20 20 CD cord-014712-5u4e00q6 138 24 patients patient NNS cord-014712-5u4e00q6 138 25 , , , cord-014712-5u4e00q6 138 26 and and CC cord-014712-5u4e00q6 138 27 XL XL NNP cord-014712-5u4e00q6 138 28 - - HYPH cord-014712-5u4e00q6 138 29 HIGM HIGM NNP cord-014712-5u4e00q6 138 30 in in IN cord-014712-5u4e00q6 138 31 4 4 CD cord-014712-5u4e00q6 138 32 patients patient NNS cord-014712-5u4e00q6 138 33 . . . cord-014712-5u4e00q6 139 1 Disseminated disseminate VBN cord-014712-5u4e00q6 139 2 BCG BCG NNP cord-014712-5u4e00q6 139 3 infection infection NN cord-014712-5u4e00q6 139 4 was be VBD cord-014712-5u4e00q6 139 5 recognized recognize VBN cord-014712-5u4e00q6 139 6 in in IN cord-014712-5u4e00q6 139 7 10 10 CD cord-014712-5u4e00q6 139 8 SCID SCID NNP cord-014712-5u4e00q6 139 9 patients patient NNS cord-014712-5u4e00q6 139 10 , , , cord-014712-5u4e00q6 139 11 2 2 CD cord-014712-5u4e00q6 139 12 of of IN cord-014712-5u4e00q6 139 13 them -PRON- PRP cord-014712-5u4e00q6 139 14 died die VBD cord-014712-5u4e00q6 139 15 , , , cord-014712-5u4e00q6 139 16 because because IN cord-014712-5u4e00q6 139 17 of of IN cord-014712-5u4e00q6 139 18 BCG BCG NNP cord-014712-5u4e00q6 139 19 diseases disease NNS cord-014712-5u4e00q6 139 20 . . . cord-014712-5u4e00q6 140 1 All all DT cord-014712-5u4e00q6 140 2 4 4 CD cord-014712-5u4e00q6 140 3 patients patient NNS cord-014712-5u4e00q6 140 4 with with IN cord-014712-5u4e00q6 140 5 MSMD MSMD NNP cord-014712-5u4e00q6 140 6 developed develop VBD cord-014712-5u4e00q6 140 7 BCG BCG NNP cord-014712-5u4e00q6 140 8 infection infection NN cord-014712-5u4e00q6 140 9 , , , cord-014712-5u4e00q6 140 10 one one CD cord-014712-5u4e00q6 140 11 with with IN cord-014712-5u4e00q6 140 12 IL-2 IL-2 NNP cord-014712-5u4e00q6 140 13 deficiency deficiency NN cord-014712-5u4e00q6 140 14 died die VBD cord-014712-5u4e00q6 140 15 . . . cord-014712-5u4e00q6 141 1 During during IN cord-014712-5u4e00q6 141 2 nearly nearly RB cord-014712-5u4e00q6 141 3 30-year 30-year JJ cord-014712-5u4e00q6 141 4 - - HYPH cord-014712-5u4e00q6 141 5 follow follow NN cord-014712-5u4e00q6 141 6 - - HYPH cord-014712-5u4e00q6 141 7 up up NN cord-014712-5u4e00q6 141 8 , , , cord-014712-5u4e00q6 141 9 no no DT cord-014712-5u4e00q6 141 10 case case NN cord-014712-5u4e00q6 141 11 of of IN cord-014712-5u4e00q6 141 12 tuberculosis tuberculosis NN cord-014712-5u4e00q6 141 13 or or CC cord-014712-5u4e00q6 141 14 disseminated disseminate VBN cord-014712-5u4e00q6 141 15 BCG BCG NNP cord-014712-5u4e00q6 141 16 infection infection NN cord-014712-5u4e00q6 141 17 have have VBP cord-014712-5u4e00q6 141 18 been be VBN cord-014712-5u4e00q6 141 19 diagnosed diagnose VBN cord-014712-5u4e00q6 141 20 among among IN cord-014712-5u4e00q6 141 21 CGD CGD NNP cord-014712-5u4e00q6 141 22 , , , cord-014712-5u4e00q6 141 23 HIES HIES NNP cord-014712-5u4e00q6 141 24 and and CC cord-014712-5u4e00q6 141 25 XL XL NNP cord-014712-5u4e00q6 141 26 - - HYPH cord-014712-5u4e00q6 141 27 HIGM HIGM NNP cord-014712-5u4e00q6 141 28 patients patient NNS cord-014712-5u4e00q6 141 29 . . . cord-014712-5u4e00q6 142 1 Early early JJ cord-014712-5u4e00q6 142 2 anti anti JJ cord-014712-5u4e00q6 142 3 -Tb -tb NN cord-014712-5u4e00q6 142 4 drug drug NN cord-014712-5u4e00q6 142 5 prophylaxis prophylaxis NN cord-014712-5u4e00q6 142 6 and and CC cord-014712-5u4e00q6 142 7 usage usage NN cord-014712-5u4e00q6 142 8 of of IN cord-014712-5u4e00q6 142 9 wide wide JJ cord-014712-5u4e00q6 142 10 range range NN cord-014712-5u4e00q6 142 11 of of IN cord-014712-5u4e00q6 142 12 antibiotics antibiotic NNS cord-014712-5u4e00q6 142 13 in in IN cord-014712-5u4e00q6 142 14 therapy therapy NN cord-014712-5u4e00q6 142 15 is be VBZ cord-014712-5u4e00q6 142 16 crucial crucial JJ cord-014712-5u4e00q6 142 17 for for IN cord-014712-5u4e00q6 142 18 cleaning cleaning NN cord-014712-5u4e00q6 142 19 of of IN cord-014712-5u4e00q6 142 20 BCG BCG NNP cord-014712-5u4e00q6 142 21 infection infection NN cord-014712-5u4e00q6 142 22 . . . cord-014712-5u4e00q6 143 1 Peter Peter NNP cord-014712-5u4e00q6 143 2 Čižnár Čižnár NNP cord-014712-5u4e00q6 143 3 1 1 CD cord-014712-5u4e00q6 143 4 ; ; : cord-014712-5u4e00q6 143 5 Julia Julia NNP cord-014712-5u4e00q6 143 6 Horáková Horáková NNP cord-014712-5u4e00q6 143 7 2 2 CD cord-014712-5u4e00q6 143 8 ; ; : cord-014712-5u4e00q6 143 9 Peter Peter NNP cord-014712-5u4e00q6 143 10 Švec Švec NNP cord-014712-5u4e00q6 143 11 2 2 CD cord-014712-5u4e00q6 143 12 ; ; : cord-014712-5u4e00q6 143 13 Ivana Ivana NNP cord-014712-5u4e00q6 143 14 Boďová Boďová NNP cord-014712-5u4e00q6 143 15 2 2 CD cord-014712-5u4e00q6 143 16 ; ; : cord-014712-5u4e00q6 143 17 Sabina Sabina NNP cord-014712-5u4e00q6 143 18 Šufliarska Šufliarska NNP cord-014712-5u4e00q6 143 19 2 2 CD cord-014712-5u4e00q6 143 20 ; ; : cord-014712-5u4e00q6 143 21 Linda Linda NNP cord-014712-5u4e00q6 143 22 Libai Libai NNP cord-014712-5u4e00q6 143 23 Veghová Veghová NNP cord-014712-5u4e00q6 143 24 1 1 CD cord-014712-5u4e00q6 143 25 ; ; : cord-014712-5u4e00q6 143 26 , , , cord-014712-5u4e00q6 143 27 Marieta Marieta NNP cord-014712-5u4e00q6 143 28 Hricová Hricová NNP cord-014712-5u4e00q6 143 29 1 1 CD cord-014712-5u4e00q6 143 30 1 1 CD cord-014712-5u4e00q6 143 31 1 1 CD cord-014712-5u4e00q6 143 32 st st NNP cord-014712-5u4e00q6 143 33 Pediatric Pediatric NNP cord-014712-5u4e00q6 143 34 department department NN cord-014712-5u4e00q6 143 35 , , , cord-014712-5u4e00q6 143 36 Comenius Comenius NNP cord-014712-5u4e00q6 143 37 University University NNP cord-014712-5u4e00q6 143 38 Medical Medical NNP cord-014712-5u4e00q6 143 39 Faculty Faculty NNP cord-014712-5u4e00q6 143 40 , , , cord-014712-5u4e00q6 143 41 Children`s children`s DT cord-014712-5u4e00q6 143 42 University University NNP cord-014712-5u4e00q6 143 43 Hospital Hospital NNP cord-014712-5u4e00q6 143 44 , , , cord-014712-5u4e00q6 143 45 Bratislava Bratislava NNP cord-014712-5u4e00q6 143 46 , , , cord-014712-5u4e00q6 143 47 Slovakia Slovakia NNP cord-014712-5u4e00q6 143 48 . . . cord-014712-5u4e00q6 144 1 2 2 CD cord-014712-5u4e00q6 144 2 Transplantation transplantation NN cord-014712-5u4e00q6 144 3 unit unit NN cord-014712-5u4e00q6 144 4 , , , cord-014712-5u4e00q6 144 5 Department Department NNP cord-014712-5u4e00q6 144 6 of of IN cord-014712-5u4e00q6 144 7 Pediatric Pediatric NNP cord-014712-5u4e00q6 144 8 Haematology Haematology NNP cord-014712-5u4e00q6 144 9 and and CC cord-014712-5u4e00q6 144 10 Oncology Oncology NNP cord-014712-5u4e00q6 144 11 , , , cord-014712-5u4e00q6 144 12 Children`s children`s DT cord-014712-5u4e00q6 144 13 University University NNP cord-014712-5u4e00q6 144 14 Hospital Hospital NNP cord-014712-5u4e00q6 144 15 , , , cord-014712-5u4e00q6 144 16 Bratislava Bratislava NNP cord-014712-5u4e00q6 144 17 , , , cord-014712-5u4e00q6 144 18 Slovakia Slovakia NNP cord-014712-5u4e00q6 144 19 . . . cord-014712-5u4e00q6 145 1 Objectives objective NNS cord-014712-5u4e00q6 145 2 : : : cord-014712-5u4e00q6 146 1 Severe severe JJ cord-014712-5u4e00q6 146 2 combined combine VBN cord-014712-5u4e00q6 146 3 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 146 4 ( ( -LRB- cord-014712-5u4e00q6 146 5 SCID SCID NNP cord-014712-5u4e00q6 146 6 ) ) -RRB- cord-014712-5u4e00q6 146 7 is be VBZ cord-014712-5u4e00q6 146 8 a a DT cord-014712-5u4e00q6 146 9 group group NN cord-014712-5u4e00q6 146 10 of of IN cord-014712-5u4e00q6 146 11 disorders disorder NNS cord-014712-5u4e00q6 146 12 due due JJ cord-014712-5u4e00q6 146 13 to to IN cord-014712-5u4e00q6 146 14 more more JJR cord-014712-5u4e00q6 146 15 than than IN cord-014712-5u4e00q6 146 16 15 15 CD cord-014712-5u4e00q6 146 17 genetic genetic JJ cord-014712-5u4e00q6 146 18 defects defect NNS cord-014712-5u4e00q6 146 19 , , , cord-014712-5u4e00q6 146 20 characterized characterize VBN cord-014712-5u4e00q6 146 21 by by IN cord-014712-5u4e00q6 146 22 increased increase VBN cord-014712-5u4e00q6 146 23 susceptibility susceptibility NN cord-014712-5u4e00q6 146 24 to to IN cord-014712-5u4e00q6 146 25 severe severe JJ cord-014712-5u4e00q6 146 26 infections infection NNS cord-014712-5u4e00q6 146 27 and and CC cord-014712-5u4e00q6 146 28 early early JJ cord-014712-5u4e00q6 146 29 life life NN cord-014712-5u4e00q6 146 30 death death NN cord-014712-5u4e00q6 146 31 . . . cord-014712-5u4e00q6 147 1 The the DT cord-014712-5u4e00q6 147 2 diagnosis diagnosis NN cord-014712-5u4e00q6 147 3 is be VBZ cord-014712-5u4e00q6 147 4 supported support VBN cord-014712-5u4e00q6 147 5 by by IN cord-014712-5u4e00q6 147 6 the the DT cord-014712-5u4e00q6 147 7 demonstration demonstration NN cord-014712-5u4e00q6 147 8 of of IN cord-014712-5u4e00q6 147 9 low low JJ cord-014712-5u4e00q6 147 10 absolute absolute JJ cord-014712-5u4e00q6 147 11 T T NNP cord-014712-5u4e00q6 147 12 lymphocyte lymphocyte NN cord-014712-5u4e00q6 147 13 count count NN cord-014712-5u4e00q6 147 14 variably variably RB cord-014712-5u4e00q6 147 15 associated associate VBN cord-014712-5u4e00q6 147 16 with with IN cord-014712-5u4e00q6 147 17 numerical numerical JJ cord-014712-5u4e00q6 147 18 defects defect NNS cord-014712-5u4e00q6 147 19 of of IN cord-014712-5u4e00q6 147 20 B B NNP cord-014712-5u4e00q6 147 21 and and CC cord-014712-5u4e00q6 147 22 NK NK NNP cord-014712-5u4e00q6 147 23 cells cell NNS cord-014712-5u4e00q6 147 24 . . . cord-014712-5u4e00q6 148 1 Patients patient NNS cord-014712-5u4e00q6 148 2 are be VBP cord-014712-5u4e00q6 148 3 very very RB cord-014712-5u4e00q6 148 4 heterogeneous heterogeneous JJ cord-014712-5u4e00q6 148 5 regarding regard VBG cord-014712-5u4e00q6 148 6 clinical clinical JJ cord-014712-5u4e00q6 148 7 course course NN cord-014712-5u4e00q6 148 8 , , , cord-014712-5u4e00q6 148 9 immune immune JJ cord-014712-5u4e00q6 148 10 parameters parameter NNS cord-014712-5u4e00q6 148 11 and and CC cord-014712-5u4e00q6 148 12 clinical clinical JJ cord-014712-5u4e00q6 148 13 outcome outcome NN cord-014712-5u4e00q6 148 14 . . . cord-014712-5u4e00q6 149 1 BCG BCG NNP cord-014712-5u4e00q6 149 2 ( ( -LRB- cord-014712-5u4e00q6 149 3 Bacillus Bacillus NNP cord-014712-5u4e00q6 149 4 Calmette Calmette NNP cord-014712-5u4e00q6 149 5 - - HYPH cord-014712-5u4e00q6 149 6 Guerin Guerin NNP cord-014712-5u4e00q6 149 7 ) ) -RRB- cord-014712-5u4e00q6 149 8 vaccine vaccine NN cord-014712-5u4e00q6 149 9 , , , cord-014712-5u4e00q6 149 10 a a DT cord-014712-5u4e00q6 149 11 life life NN cord-014712-5u4e00q6 149 12 attenuated attenuated JJ cord-014712-5u4e00q6 149 13 vaccine vaccine NN cord-014712-5u4e00q6 149 14 was be VBD cord-014712-5u4e00q6 149 15 the the DT cord-014712-5u4e00q6 149 16 part part NN cord-014712-5u4e00q6 149 17 of of IN cord-014712-5u4e00q6 149 18 Slovak Slovak NNP cord-014712-5u4e00q6 149 19 Immunization Immunization NNP cord-014712-5u4e00q6 149 20 Program Program NNP cord-014712-5u4e00q6 149 21 , , , cord-014712-5u4e00q6 149 22 administered administer VBN cord-014712-5u4e00q6 149 23 at at IN cord-014712-5u4e00q6 149 24 birth birth NN cord-014712-5u4e00q6 149 25 until until IN cord-014712-5u4e00q6 149 26 2011 2011 CD cord-014712-5u4e00q6 149 27 . . . cord-014712-5u4e00q6 150 1 A a DT cord-014712-5u4e00q6 150 2 comparison comparison NN cord-014712-5u4e00q6 150 3 of of IN cord-014712-5u4e00q6 150 4 clinical clinical JJ cord-014712-5u4e00q6 150 5 course course NN cord-014712-5u4e00q6 150 6 of of IN cord-014712-5u4e00q6 150 7 BCG BCG NNP cord-014712-5u4e00q6 150 8 exposed expose VBN cord-014712-5u4e00q6 150 9 ( ( -LRB- cord-014712-5u4e00q6 150 10 BCG+ BCG+ NNP cord-014712-5u4e00q6 150 11 ) ) -RRB- cord-014712-5u4e00q6 150 12 and and CC cord-014712-5u4e00q6 150 13 non non JJ cord-014712-5u4e00q6 150 14 - - JJ cord-014712-5u4e00q6 150 15 exposed exposed JJ cord-014712-5u4e00q6 150 16 ( ( -LRB- cord-014712-5u4e00q6 150 17 BCG- BCG- NNP cord-014712-5u4e00q6 150 18 ) ) -RRB- cord-014712-5u4e00q6 150 19 SCID SCID NNP cord-014712-5u4e00q6 150 20 patients patient NNS cord-014712-5u4e00q6 150 21 in in IN cord-014712-5u4e00q6 150 22 Slovakia Slovakia NNP cord-014712-5u4e00q6 150 23 in in IN cord-014712-5u4e00q6 150 24 period period NN cord-014712-5u4e00q6 150 25 of of IN cord-014712-5u4e00q6 150 26 past past JJ cord-014712-5u4e00q6 150 27 10 10 CD cord-014712-5u4e00q6 150 28 years year NNS cord-014712-5u4e00q6 150 29 are be VBP cord-014712-5u4e00q6 150 30 given give VBN cord-014712-5u4e00q6 150 31 . . . cord-014712-5u4e00q6 151 1 Results result NNS cord-014712-5u4e00q6 151 2 : : : cord-014712-5u4e00q6 152 1 Incidence incidence NN cord-014712-5u4e00q6 152 2 rate rate NN cord-014712-5u4e00q6 152 3 of of IN cord-014712-5u4e00q6 152 4 diagnosed diagnose VBN cord-014712-5u4e00q6 152 5 and and CC cord-014712-5u4e00q6 152 6 treated treat VBN cord-014712-5u4e00q6 152 7 SCID SCID NNP cord-014712-5u4e00q6 152 8 in in IN cord-014712-5u4e00q6 152 9 Slovakia Slovakia NNP cord-014712-5u4e00q6 152 10 was be VBD cord-014712-5u4e00q6 152 11 calculated calculate VBN cord-014712-5u4e00q6 152 12 to to IN cord-014712-5u4e00q6 152 13 1:87.000 1:87.000 CD cord-014712-5u4e00q6 152 14 , , , cord-014712-5u4e00q6 152 15 meaning mean VBG cord-014712-5u4e00q6 152 16 1,5 1,5 CD cord-014712-5u4e00q6 152 17 cases case NNS cord-014712-5u4e00q6 152 18 per per IN cord-014712-5u4e00q6 152 19 year year NN cord-014712-5u4e00q6 152 20 . . . cord-014712-5u4e00q6 153 1 In in IN cord-014712-5u4e00q6 153 2 total total JJ cord-014712-5u4e00q6 153 3 10 10 CD cord-014712-5u4e00q6 153 4 cases case NNS cord-014712-5u4e00q6 153 5 represent represent VBP cord-014712-5u4e00q6 153 6 4 4 CD cord-014712-5u4e00q6 153 7 ADA ADA NNP cord-014712-5u4e00q6 153 8 patients patient NNS cord-014712-5u4e00q6 153 9 , , , cord-014712-5u4e00q6 153 10 2 2 CD cord-014712-5u4e00q6 153 11 IL2RG IL2RG NNP cord-014712-5u4e00q6 153 12 deficiencies deficiency NNS cord-014712-5u4e00q6 153 13 , , , cord-014712-5u4e00q6 153 14 1 1 CD cord-014712-5u4e00q6 153 15 case case NN cord-014712-5u4e00q6 153 16 of of IN cord-014712-5u4e00q6 153 17 complete complete JJ cord-014712-5u4e00q6 153 18 del22q11 del22q11 NN cord-014712-5u4e00q6 153 19 and and CC cord-014712-5u4e00q6 153 20 in in IN cord-014712-5u4e00q6 153 21 3 3 CD cord-014712-5u4e00q6 153 22 cases case NNS cord-014712-5u4e00q6 153 23 genetic genetic JJ cord-014712-5u4e00q6 153 24 defect defect NN cord-014712-5u4e00q6 153 25 was be VBD cord-014712-5u4e00q6 153 26 not not RB cord-014712-5u4e00q6 153 27 found find VBN cord-014712-5u4e00q6 153 28 by by IN cord-014712-5u4e00q6 153 29 analysis analysis NN cord-014712-5u4e00q6 153 30 of of IN cord-014712-5u4e00q6 153 31 RAG1/2 RAG1/2 NNP cord-014712-5u4e00q6 153 32 , , , cord-014712-5u4e00q6 153 33 IL2RG IL2RG NNP cord-014712-5u4e00q6 153 34 , , , cord-014712-5u4e00q6 153 35 Artemis Artemis NNP cord-014712-5u4e00q6 153 36 , , , cord-014712-5u4e00q6 153 37 IL7RA IL7RA NNP cord-014712-5u4e00q6 153 38 , , , cord-014712-5u4e00q6 153 39 JAK3 JAK3 NNP cord-014712-5u4e00q6 153 40 and and CC cord-014712-5u4e00q6 153 41 ADA ADA NNP cord-014712-5u4e00q6 153 42 genes gene NNS cord-014712-5u4e00q6 153 43 . . . cord-014712-5u4e00q6 154 1 All all DT cord-014712-5u4e00q6 154 2 patients patient NNS cord-014712-5u4e00q6 154 3 were be VBD cord-014712-5u4e00q6 154 4 confirmed confirm VBN cord-014712-5u4e00q6 154 5 absent absent JJ cord-014712-5u4e00q6 154 6 TREC TREC NNP cord-014712-5u4e00q6 155 1 ( ( -LRB- cord-014712-5u4e00q6 155 2 T t NN cord-014712-5u4e00q6 155 3 - - HYPH cord-014712-5u4e00q6 155 4 cell cell NN cord-014712-5u4e00q6 155 5 receptor receptor NN cord-014712-5u4e00q6 155 6 excision excision NN cord-014712-5u4e00q6 155 7 circles circle NNS cord-014712-5u4e00q6 155 8 ) ) -RRB- cord-014712-5u4e00q6 156 1 copies copy NNS cord-014712-5u4e00q6 156 2 in in IN cord-014712-5u4e00q6 156 3 a a DT cord-014712-5u4e00q6 156 4 retrospective retrospective JJ cord-014712-5u4e00q6 156 5 neonatal neonatal JJ cord-014712-5u4e00q6 156 6 Guthrie Guthrie NNP cord-014712-5u4e00q6 156 7 card card NN cord-014712-5u4e00q6 156 8 analysis analysis NN cord-014712-5u4e00q6 156 9 . . . cord-014712-5u4e00q6 157 1 Seven seven CD cord-014712-5u4e00q6 157 2 out out IN cord-014712-5u4e00q6 157 3 of of IN cord-014712-5u4e00q6 157 4 these these DT cord-014712-5u4e00q6 157 5 10 10 CD cord-014712-5u4e00q6 157 6 patients patient NNS cord-014712-5u4e00q6 157 7 underwent undergo VBD cord-014712-5u4e00q6 157 8 HSCT HSCT NNP cord-014712-5u4e00q6 157 9 , , , cord-014712-5u4e00q6 157 10 in in IN cord-014712-5u4e00q6 157 11 5 5 CD cord-014712-5u4e00q6 157 12 the the DT cord-014712-5u4e00q6 157 13 HSC HSC NNP cord-014712-5u4e00q6 157 14 source source NN cord-014712-5u4e00q6 157 15 was be VBD cord-014712-5u4e00q6 157 16 a a DT cord-014712-5u4e00q6 157 17 MUD mud NN cord-014712-5u4e00q6 157 18 . . . cord-014712-5u4e00q6 158 1 Favorite favorite JJ cord-014712-5u4e00q6 158 2 outcome outcome NN cord-014712-5u4e00q6 158 3 was be VBD cord-014712-5u4e00q6 158 4 achieved achieve VBN cord-014712-5u4e00q6 158 5 in in IN cord-014712-5u4e00q6 158 6 6 6 CD cord-014712-5u4e00q6 158 7 of of IN cord-014712-5u4e00q6 158 8 them -PRON- PRP cord-014712-5u4e00q6 158 9 . . . cord-014712-5u4e00q6 159 1 Half half NN cord-014712-5u4e00q6 159 2 of of IN cord-014712-5u4e00q6 159 3 our -PRON- PRP$ cord-014712-5u4e00q6 159 4 patients patient NNS cord-014712-5u4e00q6 159 5 have have VBP cord-014712-5u4e00q6 159 6 been be VBN cord-014712-5u4e00q6 159 7 exposed expose VBN cord-014712-5u4e00q6 159 8 to to IN cord-014712-5u4e00q6 159 9 a a DT cord-014712-5u4e00q6 159 10 live live JJ cord-014712-5u4e00q6 159 11 BCG BCG NNP cord-014712-5u4e00q6 159 12 vaccine vaccine NN cord-014712-5u4e00q6 159 13 during during IN cord-014712-5u4e00q6 159 14 neonatal neonatal JJ cord-014712-5u4e00q6 159 15 period period NN cord-014712-5u4e00q6 159 16 . . . cord-014712-5u4e00q6 160 1 Patients patient NNS cord-014712-5u4e00q6 160 2 vaccinated vaccinate VBN cord-014712-5u4e00q6 160 3 with with IN cord-014712-5u4e00q6 160 4 BCG BCG NNP cord-014712-5u4e00q6 160 5 faced face VBD cord-014712-5u4e00q6 160 6 severe severe JJ cord-014712-5u4e00q6 160 7 complications complication NNS cord-014712-5u4e00q6 160 8 and and CC cord-014712-5u4e00q6 160 9 organ organ NN cord-014712-5u4e00q6 160 10 damage damage NN cord-014712-5u4e00q6 160 11 due due JJ cord-014712-5u4e00q6 160 12 to to IN cord-014712-5u4e00q6 160 13 generalized generalized JJ cord-014712-5u4e00q6 160 14 skin skin NN cord-014712-5u4e00q6 160 15 and and CC cord-014712-5u4e00q6 160 16 organ organ NN cord-014712-5u4e00q6 160 17 abscess abscess NN cord-014712-5u4e00q6 160 18 formation formation NN cord-014712-5u4e00q6 160 19 , , , cord-014712-5u4e00q6 160 20 requiring require VBG cord-014712-5u4e00q6 160 21 prolonged prolong VBN cord-014712-5u4e00q6 160 22 ( ( -LRB- cord-014712-5u4e00q6 160 23 up up IN cord-014712-5u4e00q6 160 24 to to TO cord-014712-5u4e00q6 160 25 18 18 CD cord-014712-5u4e00q6 160 26 months month NNS cord-014712-5u4e00q6 160 27 ) ) -RRB- cord-014712-5u4e00q6 160 28 hospital hospital NN cord-014712-5u4e00q6 160 29 care care NN cord-014712-5u4e00q6 160 30 and and CC cord-014712-5u4e00q6 160 31 complex complex JJ cord-014712-5u4e00q6 160 32 antibiotic antibiotic JJ cord-014712-5u4e00q6 160 33 therapy therapy NN cord-014712-5u4e00q6 160 34 with with IN cord-014712-5u4e00q6 160 35 more more JJR cord-014712-5u4e00q6 160 36 than than IN cord-014712-5u4e00q6 160 37 four four CD cord-014712-5u4e00q6 160 38 types type NNS cord-014712-5u4e00q6 160 39 of of IN cord-014712-5u4e00q6 160 40 anti anti JJ cord-014712-5u4e00q6 160 41 - - JJ cord-014712-5u4e00q6 160 42 mycobacterium mycobacterium JJ cord-014712-5u4e00q6 160 43 drugs drug NNS cord-014712-5u4e00q6 160 44 , , , cord-014712-5u4e00q6 160 45 for for IN cord-014712-5u4e00q6 160 46 more more JJR cord-014712-5u4e00q6 160 47 than than IN cord-014712-5u4e00q6 160 48 2 2 CD cord-014712-5u4e00q6 160 49 years year NNS cord-014712-5u4e00q6 160 50 . . . cord-014712-5u4e00q6 161 1 Average average JJ cord-014712-5u4e00q6 161 2 length length NN cord-014712-5u4e00q6 161 3 of of IN cord-014712-5u4e00q6 161 4 hospital hospital NN cord-014712-5u4e00q6 161 5 care care NN cord-014712-5u4e00q6 161 6 for for IN cord-014712-5u4e00q6 161 7 BCG BCG NNP cord-014712-5u4e00q6 161 8 exposed expose VBN cord-014712-5u4e00q6 161 9 patient patient NN cord-014712-5u4e00q6 161 10 was be VBD cord-014712-5u4e00q6 161 11 10,8 10,8 CD cord-014712-5u4e00q6 161 12 months month NNS cord-014712-5u4e00q6 161 13 vs. vs. CC cord-014712-5u4e00q6 161 14 2,7 2,7 CD cord-014712-5u4e00q6 161 15 months month NNS cord-014712-5u4e00q6 161 16 in in IN cord-014712-5u4e00q6 161 17 non non JJ cord-014712-5u4e00q6 161 18 - - JJ cord-014712-5u4e00q6 161 19 exposed exposed JJ cord-014712-5u4e00q6 161 20 group group NN cord-014712-5u4e00q6 161 21 ( ( -LRB- cord-014712-5u4e00q6 161 22 p p NN cord-014712-5u4e00q6 161 23 < < XX cord-014712-5u4e00q6 161 24 0,05 0,05 NNP cord-014712-5u4e00q6 161 25 ) ) -RRB- cord-014712-5u4e00q6 161 26 . . . cord-014712-5u4e00q6 162 1 No no DT cord-014712-5u4e00q6 162 2 statistical statistical JJ cord-014712-5u4e00q6 162 3 difference difference NN cord-014712-5u4e00q6 162 4 was be VBD cord-014712-5u4e00q6 162 5 found find VBN cord-014712-5u4e00q6 162 6 between between IN cord-014712-5u4e00q6 162 7 the the DT cord-014712-5u4e00q6 162 8 time time NN cord-014712-5u4e00q6 162 9 of of IN cord-014712-5u4e00q6 162 10 recognized recognize VBN cord-014712-5u4e00q6 162 11 first first JJ cord-014712-5u4e00q6 162 12 symptoms symptom NNS cord-014712-5u4e00q6 162 13 , , , cord-014712-5u4e00q6 162 14 and and CC cord-014712-5u4e00q6 162 15 time time NN cord-014712-5u4e00q6 162 16 of of IN cord-014712-5u4e00q6 162 17 diagnosis diagnosis NN cord-014712-5u4e00q6 162 18 in in IN cord-014712-5u4e00q6 162 19 BCG BCG NNP cord-014712-5u4e00q6 162 20 + + CC cord-014712-5u4e00q6 162 21 and and CC cord-014712-5u4e00q6 162 22 BCG BCG NNP cord-014712-5u4e00q6 162 23 - - HYPH cord-014712-5u4e00q6 162 24 group group NN cord-014712-5u4e00q6 162 25 . . . cord-014712-5u4e00q6 163 1 The the DT cord-014712-5u4e00q6 163 2 clinical clinical JJ cord-014712-5u4e00q6 163 3 presentation presentation NN cord-014712-5u4e00q6 163 4 of of IN cord-014712-5u4e00q6 163 5 non non JJ cord-014712-5u4e00q6 163 6 - - JJ cord-014712-5u4e00q6 163 7 BCG bcg JJ cord-014712-5u4e00q6 163 8 vaccinated vaccinate VBN cord-014712-5u4e00q6 163 9 patient patient NN cord-014712-5u4e00q6 163 10 differs differ VBZ cord-014712-5u4e00q6 163 11 in in IN cord-014712-5u4e00q6 163 12 the the DT cord-014712-5u4e00q6 163 13 initial initial JJ cord-014712-5u4e00q6 163 14 symptoms symptom NNS cord-014712-5u4e00q6 163 15 when when WRB cord-014712-5u4e00q6 163 16 failure failure NN cord-014712-5u4e00q6 163 17 to to TO cord-014712-5u4e00q6 163 18 thrive thrive VB cord-014712-5u4e00q6 163 19 and and CC cord-014712-5u4e00q6 163 20 pneumonia pneumonia NN cord-014712-5u4e00q6 163 21 at at IN cord-014712-5u4e00q6 163 22 4 4 CD cord-014712-5u4e00q6 163 23 months month NNS cord-014712-5u4e00q6 163 24 was be VBD cord-014712-5u4e00q6 163 25 the the DT cord-014712-5u4e00q6 163 26 most most RBS cord-014712-5u4e00q6 163 27 common common JJ cord-014712-5u4e00q6 163 28 finding finding NN cord-014712-5u4e00q6 163 29 . . . cord-014712-5u4e00q6 164 1 Post post JJ cord-014712-5u4e00q6 164 2 - - JJ cord-014712-5u4e00q6 164 3 transplantational transplantational JJ cord-014712-5u4e00q6 164 4 recovery recovery NN cord-014712-5u4e00q6 164 5 in in IN cord-014712-5u4e00q6 164 6 BCG BCG NNP cord-014712-5u4e00q6 164 7 - - HYPH cord-014712-5u4e00q6 164 8 group group NN cord-014712-5u4e00q6 164 9 was be VBD cord-014712-5u4e00q6 164 10 less less RBR cord-014712-5u4e00q6 164 11 complicated complicated JJ cord-014712-5u4e00q6 164 12 . . . cord-014712-5u4e00q6 165 1 Conclusions conclusion NNS cord-014712-5u4e00q6 165 2 : : : cord-014712-5u4e00q6 166 1 Two two CD cord-014712-5u4e00q6 166 2 major major JJ cord-014712-5u4e00q6 166 3 improvements improvement NNS cord-014712-5u4e00q6 166 4 for for IN cord-014712-5u4e00q6 166 5 the the DT cord-014712-5u4e00q6 166 6 outcome outcome NN cord-014712-5u4e00q6 166 7 for for IN cord-014712-5u4e00q6 166 8 SCID SCID NNP cord-014712-5u4e00q6 166 9 patients patient NNS cord-014712-5u4e00q6 166 10 in in IN cord-014712-5u4e00q6 166 11 Slovakia Slovakia NNP cord-014712-5u4e00q6 166 12 have have VBP cord-014712-5u4e00q6 166 13 occurred occur VBN cord-014712-5u4e00q6 166 14 in in IN cord-014712-5u4e00q6 166 15 past past JJ cord-014712-5u4e00q6 166 16 10 10 CD cord-014712-5u4e00q6 166 17 years year NNS cord-014712-5u4e00q6 166 18 . . . cord-014712-5u4e00q6 167 1 Early early JJ cord-014712-5u4e00q6 167 2 life life NN cord-014712-5u4e00q6 167 3 vaccination vaccination NN cord-014712-5u4e00q6 167 4 for for IN cord-014712-5u4e00q6 167 5 tuberculosis tuberculosis NN cord-014712-5u4e00q6 167 6 has have VBZ cord-014712-5u4e00q6 167 7 been be VBN cord-014712-5u4e00q6 167 8 retreated retreat VBN cord-014712-5u4e00q6 167 9 and and CC cord-014712-5u4e00q6 167 10 improvements improvement NNS cord-014712-5u4e00q6 167 11 in in IN cord-014712-5u4e00q6 167 12 diagnostics diagnostic NNS cord-014712-5u4e00q6 167 13 for for IN cord-014712-5u4e00q6 167 14 severe severe JJ cord-014712-5u4e00q6 167 15 T t NN cord-014712-5u4e00q6 167 16 cell cell NN cord-014712-5u4e00q6 167 17 defects defect NNS cord-014712-5u4e00q6 167 18 have have VBP cord-014712-5u4e00q6 167 19 been be VBN cord-014712-5u4e00q6 167 20 made make VBN cord-014712-5u4e00q6 167 21 , , , cord-014712-5u4e00q6 167 22 including include VBG cord-014712-5u4e00q6 167 23 flow flow NN cord-014712-5u4e00q6 167 24 cytometry cytometry NN cord-014712-5u4e00q6 167 25 phenotyping phenotyping NN cord-014712-5u4e00q6 167 26 and and CC cord-014712-5u4e00q6 167 27 genetic genetic JJ cord-014712-5u4e00q6 167 28 testing testing NN cord-014712-5u4e00q6 167 29 within within IN cord-014712-5u4e00q6 167 30 the the DT cord-014712-5u4e00q6 167 31 middle middle JJ cord-014712-5u4e00q6 167 32 European european JJ cord-014712-5u4e00q6 167 33 countries country NNS cord-014712-5u4e00q6 167 34 cooperation cooperation NN cord-014712-5u4e00q6 167 35 , , , cord-014712-5u4e00q6 167 36 the the DT cord-014712-5u4e00q6 167 37 J J NNP cord-014712-5u4e00q6 167 38 - - HYPH cord-014712-5u4e00q6 167 39 Project Project NNP cord-014712-5u4e00q6 167 40 . . . cord-014712-5u4e00q6 168 1 BCG BCG NNP cord-014712-5u4e00q6 168 2 and and CC cord-014712-5u4e00q6 168 3 late late JJ cord-014712-5u4e00q6 168 4 diagnosis diagnosis NN cord-014712-5u4e00q6 168 5 prolongs prolong VBZ cord-014712-5u4e00q6 168 6 time time NN cord-014712-5u4e00q6 168 7 for for IN cord-014712-5u4e00q6 168 8 hospital hospital NN cord-014712-5u4e00q6 168 9 care care NN cord-014712-5u4e00q6 168 10 , , , cord-014712-5u4e00q6 168 11 immune immune JJ cord-014712-5u4e00q6 168 12 reconstitution reconstitution NN cord-014712-5u4e00q6 168 13 and and CC cord-014712-5u4e00q6 168 14 carries carry VBZ cord-014712-5u4e00q6 168 15 severe severe JJ cord-014712-5u4e00q6 168 16 complications complication NNS cord-014712-5u4e00q6 168 17 , , , cord-014712-5u4e00q6 168 18 consequently consequently RB cord-014712-5u4e00q6 168 19 it -PRON- PRP cord-014712-5u4e00q6 168 20 increase increase VBP cord-014712-5u4e00q6 168 21 the the DT cord-014712-5u4e00q6 168 22 costs cost NNS cord-014712-5u4e00q6 168 23 of of IN cord-014712-5u4e00q6 168 24 health health NN cord-014712-5u4e00q6 168 25 care care NN cord-014712-5u4e00q6 168 26 and and CC cord-014712-5u4e00q6 168 27 decrease decrease VB cord-014712-5u4e00q6 168 28 the the DT cord-014712-5u4e00q6 168 29 quality quality NN cord-014712-5u4e00q6 168 30 of of IN cord-014712-5u4e00q6 168 31 patients patient NNS cord-014712-5u4e00q6 168 32 ' ' POS cord-014712-5u4e00q6 168 33 life life NN cord-014712-5u4e00q6 168 34 . . . cord-014712-5u4e00q6 169 1 The the DT cord-014712-5u4e00q6 169 2 perspective perspective NN cord-014712-5u4e00q6 169 3 of of IN cord-014712-5u4e00q6 169 4 newborn newborn JJ cord-014712-5u4e00q6 169 5 screening screening NN cord-014712-5u4e00q6 169 6 for for IN cord-014712-5u4e00q6 169 7 SCID SCID NNP cord-014712-5u4e00q6 169 8 would would MD cord-014712-5u4e00q6 169 9 be be VB cord-014712-5u4e00q6 169 10 the the DT cord-014712-5u4e00q6 169 11 next next JJ cord-014712-5u4e00q6 169 12 major major JJ cord-014712-5u4e00q6 169 13 step step NN cord-014712-5u4e00q6 169 14 in in IN cord-014712-5u4e00q6 169 15 improving improve VBG cord-014712-5u4e00q6 169 16 the the DT cord-014712-5u4e00q6 169 17 outcome outcome NN cord-014712-5u4e00q6 169 18 of of IN cord-014712-5u4e00q6 169 19 SCID SCID NNP cord-014712-5u4e00q6 169 20 patients patient NNS cord-014712-5u4e00q6 169 21 . . . cord-014712-5u4e00q6 170 1 Ahmed Ahmed NNP cord-014712-5u4e00q6 170 2 Aziz Aziz NNP cord-014712-5u4e00q6 170 3 Bousfiha Bousfiha NNP cord-014712-5u4e00q6 170 4 1 1 CD cord-014712-5u4e00q6 170 5 ; ; : cord-014712-5u4e00q6 170 6 Leïla Leïla NNP cord-014712-5u4e00q6 170 7 Jeddane Jeddane NNP cord-014712-5u4e00q6 170 8 1 1 CD cord-014712-5u4e00q6 170 9 ; ; : cord-014712-5u4e00q6 171 1 Nahla Nahla NNP cord-014712-5u4e00q6 171 2 Erwa Erwa NNP cord-014712-5u4e00q6 171 3 2 2 CD cord-014712-5u4e00q6 171 4 ; ; : cord-014712-5u4e00q6 171 5 Monika Monika NNP cord-014712-5u4e00q6 171 6 Esser Esser NNP cord-014712-5u4e00q6 171 7 3 3 CD cord-014712-5u4e00q6 171 8 ; ; . cord-014712-5u4e00q6 172 1 Shereen Shereen NNP cord-014712-5u4e00q6 172 2 M. M. NNP cord-014712-5u4e00q6 172 3 Reda Reda NNP cord-014712-5u4e00q6 172 4 4 4 CD cord-014712-5u4e00q6 173 1 In in IN cord-014712-5u4e00q6 173 2 Africa Africa NNP cord-014712-5u4e00q6 173 3 , , , cord-014712-5u4e00q6 173 4 primary primary JJ cord-014712-5u4e00q6 173 5 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 173 6 are be VBP cord-014712-5u4e00q6 173 7 still still RB cord-014712-5u4e00q6 173 8 largely largely RB cord-014712-5u4e00q6 173 9 undiagnosed undiagnosed JJ cord-014712-5u4e00q6 173 10 , , , cord-014712-5u4e00q6 173 11 with with IN cord-014712-5u4e00q6 173 12 no no DT cord-014712-5u4e00q6 173 13 cases case NNS cord-014712-5u4e00q6 173 14 reported report VBN cord-014712-5u4e00q6 173 15 in in IN cord-014712-5u4e00q6 173 16 40 40 CD cord-014712-5u4e00q6 173 17 of of IN cord-014712-5u4e00q6 173 18 54 54 CD cord-014712-5u4e00q6 173 19 countries country NNS cord-014712-5u4e00q6 173 20 . . . cord-014712-5u4e00q6 174 1 Though though IN cord-014712-5u4e00q6 174 2 the the DT cord-014712-5u4e00q6 174 3 African African NNP cord-014712-5u4e00q6 174 4 Society Society NNP cord-014712-5u4e00q6 174 5 for for IN cord-014712-5u4e00q6 174 6 Immunodeficiencies Immunodeficiencies NNP cord-014712-5u4e00q6 174 7 ( ( -LRB- cord-014712-5u4e00q6 174 8 ASID ASID NNP cord-014712-5u4e00q6 174 9 ) ) -RRB- cord-014712-5u4e00q6 174 10 already already RB cord-014712-5u4e00q6 174 11 organized organize VBD cord-014712-5u4e00q6 174 12 3 3 CD cord-014712-5u4e00q6 174 13 International International NNP cord-014712-5u4e00q6 174 14 Meetings Meetings NNPS cord-014712-5u4e00q6 174 15 and and CC cord-014712-5u4e00q6 174 16 5 5 CD cord-014712-5u4e00q6 174 17 training training NN cord-014712-5u4e00q6 174 18 schools school NNS cord-014712-5u4e00q6 174 19 , , , cord-014712-5u4e00q6 174 20 their -PRON- PRP$ cord-014712-5u4e00q6 174 21 impact impact NN cord-014712-5u4e00q6 174 22 outside outside IN cord-014712-5u4e00q6 174 23 the the DT cord-014712-5u4e00q6 174 24 hosting host VBG cord-014712-5u4e00q6 174 25 country country NN cord-014712-5u4e00q6 174 26 is be VBZ cord-014712-5u4e00q6 174 27 still still RB cord-014712-5u4e00q6 174 28 insufficient insufficient JJ cord-014712-5u4e00q6 174 29 . . . cord-014712-5u4e00q6 175 1 At at IN cord-014712-5u4e00q6 175 2 this this DT cord-014712-5u4e00q6 175 3 time time NN cord-014712-5u4e00q6 175 4 , , , cord-014712-5u4e00q6 175 5 only only RB cord-014712-5u4e00q6 175 6 a a DT cord-014712-5u4e00q6 175 7 few few JJ cord-014712-5u4e00q6 175 8 PID pid NN cord-014712-5u4e00q6 175 9 patients patient NNS cord-014712-5u4e00q6 175 10 are be VBP cord-014712-5u4e00q6 175 11 reported report VBN cord-014712-5u4e00q6 175 12 in in IN cord-014712-5u4e00q6 175 13 Africa Africa NNP cord-014712-5u4e00q6 175 14 ( ( -LRB- cord-014712-5u4e00q6 175 15 less less JJR cord-014712-5u4e00q6 175 16 than than IN cord-014712-5u4e00q6 175 17 2000 2000 CD cord-014712-5u4e00q6 175 18 patients patient NNS cord-014712-5u4e00q6 175 19 ) ) -RRB- cord-014712-5u4e00q6 175 20 , , , cord-014712-5u4e00q6 175 21 the the DT cord-014712-5u4e00q6 175 22 majority majority NN cord-014712-5u4e00q6 175 23 of of IN cord-014712-5u4e00q6 175 24 whom whom WP cord-014712-5u4e00q6 175 25 are be VBP cord-014712-5u4e00q6 175 26 in in IN cord-014712-5u4e00q6 175 27 North North NNP cord-014712-5u4e00q6 175 28 Africa Africa NNP cord-014712-5u4e00q6 175 29 and and CC cord-014712-5u4e00q6 175 30 South South NNP cord-014712-5u4e00q6 175 31 Africa Africa NNP cord-014712-5u4e00q6 175 32 . . . cord-014712-5u4e00q6 176 1 So so RB cord-014712-5u4e00q6 176 2 , , , cord-014712-5u4e00q6 176 3 ASID ASID NNP cord-014712-5u4e00q6 176 4 propose propose VBP cord-014712-5u4e00q6 176 5 the the DT cord-014712-5u4e00q6 176 6 A A NNP cord-014712-5u4e00q6 176 7 - - HYPH cord-014712-5u4e00q6 176 8 Project Project NNP cord-014712-5u4e00q6 176 9 , , , cord-014712-5u4e00q6 176 10 a a DT cord-014712-5u4e00q6 176 11 training training NN cord-014712-5u4e00q6 176 12 program program NN cord-014712-5u4e00q6 176 13 based base VBN cord-014712-5u4e00q6 176 14 on on IN cord-014712-5u4e00q6 176 15 the the DT cord-014712-5u4e00q6 176 16 J J NNP cord-014712-5u4e00q6 176 17 - - HYPH cord-014712-5u4e00q6 176 18 Project Project NNP cord-014712-5u4e00q6 176 19 . . . cord-014712-5u4e00q6 177 1 Some some DT cord-014712-5u4e00q6 177 2 issues issue NNS cord-014712-5u4e00q6 177 3 prevent prevent VBP cord-014712-5u4e00q6 177 4 effective effective JJ cord-014712-5u4e00q6 177 5 training training NN cord-014712-5u4e00q6 177 6 for for IN cord-014712-5u4e00q6 177 7 PID PID NNP cord-014712-5u4e00q6 177 8 in in IN cord-014712-5u4e00q6 177 9 Africa Africa NNP cord-014712-5u4e00q6 177 10 : : : cord-014712-5u4e00q6 177 11 diversity diversity NN cord-014712-5u4e00q6 177 12 of of IN cord-014712-5u4e00q6 177 13 languages language NNS cord-014712-5u4e00q6 177 14 , , , cord-014712-5u4e00q6 177 15 only only RB cord-014712-5u4e00q6 177 16 a a DT cord-014712-5u4e00q6 177 17 few few JJ cord-014712-5u4e00q6 177 18 are be VBP cord-014712-5u4e00q6 177 19 initiated initiate VBN cord-014712-5u4e00q6 177 20 to to IN cord-014712-5u4e00q6 177 21 PID PID NNP cord-014712-5u4e00q6 177 22 , , , cord-014712-5u4e00q6 177 23 lack lack NN cord-014712-5u4e00q6 177 24 of of IN cord-014712-5u4e00q6 177 25 resources resource NNS cord-014712-5u4e00q6 177 26 for for IN cord-014712-5u4e00q6 177 27 travel travel NN cord-014712-5u4e00q6 177 28 expenses expense NNS cord-014712-5u4e00q6 177 29 , , , cord-014712-5u4e00q6 177 30 difficulty difficulty NN cord-014712-5u4e00q6 177 31 to to TO cord-014712-5u4e00q6 177 32 access access NN cord-014712-5u4e00q6 177 33 to to IN cord-014712-5u4e00q6 177 34 care care NN cord-014712-5u4e00q6 177 35 and and CC cord-014712-5u4e00q6 177 36 shading shade VBG cord-014712-5u4e00q6 177 37 by by IN cord-014712-5u4e00q6 177 38 the the DT cord-014712-5u4e00q6 177 39 HIV HIV NNP cord-014712-5u4e00q6 177 40 pandemic pandemic NN cord-014712-5u4e00q6 177 41 . . . cord-014712-5u4e00q6 178 1 A a LS cord-014712-5u4e00q6 178 2 - - : cord-014712-5u4e00q6 178 3 Project Project NNP cord-014712-5u4e00q6 178 4 is be VBZ cord-014712-5u4e00q6 178 5 designed design VBN cord-014712-5u4e00q6 178 6 as as IN cord-014712-5u4e00q6 178 7 a a DT cord-014712-5u4e00q6 178 8 one one CD cord-014712-5u4e00q6 178 9 - - HYPH cord-014712-5u4e00q6 178 10 day day NN cord-014712-5u4e00q6 178 11 training training NN cord-014712-5u4e00q6 178 12 by by IN cord-014712-5u4e00q6 178 13 an an DT cord-014712-5u4e00q6 178 14 African african JJ cord-014712-5u4e00q6 178 15 PID PID NNP cord-014712-5u4e00q6 178 16 expert expert NN cord-014712-5u4e00q6 178 17 in in IN cord-014712-5u4e00q6 178 18 a a DT cord-014712-5u4e00q6 178 19 small small JJ cord-014712-5u4e00q6 178 20 group group NN cord-014712-5u4e00q6 178 21 of of IN cord-014712-5u4e00q6 178 22 motivated motivated JJ cord-014712-5u4e00q6 178 23 caregivers caregiver NNS cord-014712-5u4e00q6 178 24 . . . cord-014712-5u4e00q6 179 1 This this DT cord-014712-5u4e00q6 179 2 project project NN cord-014712-5u4e00q6 179 3 is be VBZ cord-014712-5u4e00q6 179 4 adapted adapt VBN cord-014712-5u4e00q6 179 5 to to IN cord-014712-5u4e00q6 179 6 the the DT cord-014712-5u4e00q6 179 7 African african JJ cord-014712-5u4e00q6 179 8 context context NN cord-014712-5u4e00q6 179 9 , , , cord-014712-5u4e00q6 179 10 as as IN cord-014712-5u4e00q6 179 11 it -PRON- PRP cord-014712-5u4e00q6 179 12 only only RB cord-014712-5u4e00q6 179 13 requests request VBZ cord-014712-5u4e00q6 179 14 minimum minimum JJ cord-014712-5u4e00q6 179 15 funding funding NN cord-014712-5u4e00q6 179 16 and and CC cord-014712-5u4e00q6 179 17 can can MD cord-014712-5u4e00q6 179 18 reach reach VB cord-014712-5u4e00q6 179 19 more more JJR cord-014712-5u4e00q6 179 20 people people NNS cord-014712-5u4e00q6 179 21 . . . cord-014712-5u4e00q6 180 1 Each each DT cord-014712-5u4e00q6 180 2 A A NNP cord-014712-5u4e00q6 180 3 - - HYPH cord-014712-5u4e00q6 180 4 Project Project NNP cord-014712-5u4e00q6 180 5 will will MD cord-014712-5u4e00q6 180 6 be be VB cord-014712-5u4e00q6 180 7 co co VBN cord-014712-5u4e00q6 180 8 - - VBN cord-014712-5u4e00q6 180 9 organized organize VBN cord-014712-5u4e00q6 180 10 by by IN cord-014712-5u4e00q6 180 11 ASID ASID NNP cord-014712-5u4e00q6 180 12 and and CC cord-014712-5u4e00q6 180 13 a a DT cord-014712-5u4e00q6 180 14 local local JJ cord-014712-5u4e00q6 180 15 committee committee NN cord-014712-5u4e00q6 180 16 , , , cord-014712-5u4e00q6 180 17 and and CC cord-014712-5u4e00q6 180 18 shall shall MD cord-014712-5u4e00q6 180 19 lead lead VB cord-014712-5u4e00q6 180 20 to to IN cord-014712-5u4e00q6 180 21 some some DT cord-014712-5u4e00q6 180 22 commitments commitment NNS cord-014712-5u4e00q6 180 23 to to TO cord-014712-5u4e00q6 180 24 be be VB cord-014712-5u4e00q6 180 25 realized realize VBN cord-014712-5u4e00q6 180 26 by by IN cord-014712-5u4e00q6 180 27 locals local NNS cord-014712-5u4e00q6 180 28 , , , cord-014712-5u4e00q6 180 29 in in IN cord-014712-5u4e00q6 180 30 particular particular JJ cord-014712-5u4e00q6 180 31 the the DT cord-014712-5u4e00q6 180 32 establishment establishment NN cord-014712-5u4e00q6 180 33 of of IN cord-014712-5u4e00q6 180 34 a a DT cord-014712-5u4e00q6 180 35 registry registry NN cord-014712-5u4e00q6 180 36 , , , cord-014712-5u4e00q6 180 37 a a DT cord-014712-5u4e00q6 180 38 network network NN cord-014712-5u4e00q6 180 39 between between IN cord-014712-5u4e00q6 180 40 physicians physician NNS cord-014712-5u4e00q6 180 41 and and CC cord-014712-5u4e00q6 180 42 scientists scientist NNS cord-014712-5u4e00q6 180 43 and and CC cord-014712-5u4e00q6 180 44 creation creation NN cord-014712-5u4e00q6 180 45 of of IN cord-014712-5u4e00q6 180 46 a a DT cord-014712-5u4e00q6 180 47 patient patient JJ cord-014712-5u4e00q6 180 48 association association NN cord-014712-5u4e00q6 180 49 . . . cord-014712-5u4e00q6 181 1 Moreover moreover RB cord-014712-5u4e00q6 181 2 , , , cord-014712-5u4e00q6 181 3 each each DT cord-014712-5u4e00q6 181 4 A A NNP cord-014712-5u4e00q6 181 5 - - HYPH cord-014712-5u4e00q6 181 6 Project Project NNP cord-014712-5u4e00q6 181 7 will will MD cord-014712-5u4e00q6 181 8 be be VB cord-014712-5u4e00q6 181 9 done do VBN cord-014712-5u4e00q6 181 10 in in IN cord-014712-5u4e00q6 181 11 the the DT cord-014712-5u4e00q6 181 12 medical medical JJ cord-014712-5u4e00q6 181 13 language language NN cord-014712-5u4e00q6 181 14 used use VBN cord-014712-5u4e00q6 181 15 in in IN cord-014712-5u4e00q6 181 16 the the DT cord-014712-5u4e00q6 181 17 country country NN cord-014712-5u4e00q6 181 18 ( ( -LRB- cord-014712-5u4e00q6 181 19 English English NNP cord-014712-5u4e00q6 181 20 , , , cord-014712-5u4e00q6 181 21 French french JJ cord-014712-5u4e00q6 181 22 or or CC cord-014712-5u4e00q6 181 23 Portuguese Portuguese NNP cord-014712-5u4e00q6 181 24 ) ) -RRB- cord-014712-5u4e00q6 181 25 . . . cord-014712-5u4e00q6 182 1 The the DT cord-014712-5u4e00q6 182 2 first first JJ cord-014712-5u4e00q6 182 3 A A NNP cord-014712-5u4e00q6 182 4 - - HYPH cord-014712-5u4e00q6 182 5 Project Project NNP cord-014712-5u4e00q6 182 6 was be VBD cord-014712-5u4e00q6 182 7 already already RB cord-014712-5u4e00q6 182 8 done do VBN cord-014712-5u4e00q6 182 9 in in IN cord-014712-5u4e00q6 182 10 Benin Benin NNP cord-014712-5u4e00q6 182 11 , , , cord-014712-5u4e00q6 182 12 and and CC cord-014712-5u4e00q6 182 13 five five CD cord-014712-5u4e00q6 182 14 more more JJR cord-014712-5u4e00q6 182 15 are be VBP cord-014712-5u4e00q6 182 16 already already RB cord-014712-5u4e00q6 182 17 planned plan VBN cord-014712-5u4e00q6 182 18 for for IN cord-014712-5u4e00q6 182 19 2014 2014 CD cord-014712-5u4e00q6 182 20 . . . cord-014712-5u4e00q6 183 1 Our -PRON- PRP$ cord-014712-5u4e00q6 183 2 goal goal NN cord-014712-5u4e00q6 183 3 is be VBZ cord-014712-5u4e00q6 183 4 to to TO cord-014712-5u4e00q6 183 5 reach reach VB cord-014712-5u4e00q6 183 6 all all DT cord-014712-5u4e00q6 183 7 40 40 CD cord-014712-5u4e00q6 183 8 countries country NNS cord-014712-5u4e00q6 183 9 where where WRB cord-014712-5u4e00q6 183 10 no no DT cord-014712-5u4e00q6 183 11 patient patient NN cord-014712-5u4e00q6 183 12 were be VBD cord-014712-5u4e00q6 183 13 reported report VBN cord-014712-5u4e00q6 183 14 in in IN cord-014712-5u4e00q6 183 15 3 3 CD cord-014712-5u4e00q6 183 16 years year NNS cord-014712-5u4e00q6 183 17 . . . cord-014712-5u4e00q6 184 1 This this DT cord-014712-5u4e00q6 184 2 clinical clinical JJ cord-014712-5u4e00q6 184 3 program program NN cord-014712-5u4e00q6 184 4 will will MD cord-014712-5u4e00q6 184 5 raise raise VB cord-014712-5u4e00q6 184 6 PID PID NNP cord-014712-5u4e00q6 184 7 awareness awareness NN cord-014712-5u4e00q6 184 8 in in IN cord-014712-5u4e00q6 184 9 Africa Africa NNP cord-014712-5u4e00q6 184 10 and and CC cord-014712-5u4e00q6 184 11 can can MD cord-014712-5u4e00q6 184 12 potentially potentially RB cord-014712-5u4e00q6 184 13 discover discover VB cord-014712-5u4e00q6 184 14 new new JJ cord-014712-5u4e00q6 184 15 aspects aspect NNS cord-014712-5u4e00q6 184 16 of of IN cord-014712-5u4e00q6 184 17 the the DT cord-014712-5u4e00q6 184 18 immunity immunity NN cord-014712-5u4e00q6 184 19 . . . cord-014712-5u4e00q6 185 1 Till till IN cord-014712-5u4e00q6 185 2 very very RB cord-014712-5u4e00q6 185 3 recently recently RB cord-014712-5u4e00q6 185 4 Primary primary JJ cord-014712-5u4e00q6 185 5 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 185 6 Diseases Diseases NNPS cord-014712-5u4e00q6 185 7 ( ( -LRB- cord-014712-5u4e00q6 185 8 PIDs pid NNS cord-014712-5u4e00q6 185 9 ) ) -RRB- cord-014712-5u4e00q6 185 10 were be VBD cord-014712-5u4e00q6 185 11 not not RB cord-014712-5u4e00q6 185 12 being be VBG cord-014712-5u4e00q6 185 13 frequently frequently RB cord-014712-5u4e00q6 185 14 recognized recognize VBN cord-014712-5u4e00q6 185 15 in in IN cord-014712-5u4e00q6 185 16 India India NNP cord-014712-5u4e00q6 185 17 . . . cord-014712-5u4e00q6 186 1 However however RB cord-014712-5u4e00q6 186 2 , , , cord-014712-5u4e00q6 186 3 the the DT cord-014712-5u4e00q6 186 4 scenario scenario NN cord-014712-5u4e00q6 186 5 has have VBZ cord-014712-5u4e00q6 186 6 changed change VBN cord-014712-5u4e00q6 186 7 over over IN cord-014712-5u4e00q6 186 8 the the DT cord-014712-5u4e00q6 186 9 last last JJ cord-014712-5u4e00q6 186 10 5 5 CD cord-014712-5u4e00q6 186 11 years year NNS cord-014712-5u4e00q6 186 12 or or CC cord-014712-5u4e00q6 186 13 so so RB cord-014712-5u4e00q6 186 14 . . . cord-014712-5u4e00q6 187 1 The the DT cord-014712-5u4e00q6 187 2 Indian Indian NNP cord-014712-5u4e00q6 187 3 Society Society NNP cord-014712-5u4e00q6 187 4 for for IN cord-014712-5u4e00q6 187 5 Primary Primary NNP cord-014712-5u4e00q6 187 6 Immune Immune NNP cord-014712-5u4e00q6 187 7 Deficiency Deficiency NNP cord-014712-5u4e00q6 187 8 ( ( -LRB- cord-014712-5u4e00q6 187 9 ISPID ISPID NNP cord-014712-5u4e00q6 187 10 ) ) -RRB- cord-014712-5u4e00q6 187 11 was be VBD cord-014712-5u4e00q6 187 12 founded found VBN cord-014712-5u4e00q6 187 13 in in IN cord-014712-5u4e00q6 187 14 2010 2010 CD cord-014712-5u4e00q6 187 15 - - SYM cord-014712-5u4e00q6 187 16 2011 2011 CD cord-014712-5u4e00q6 187 17 . . . cord-014712-5u4e00q6 188 1 Over over IN cord-014712-5u4e00q6 188 2 the the DT cord-014712-5u4e00q6 188 3 last last JJ cord-014712-5u4e00q6 188 4 4 4 CD cord-014712-5u4e00q6 188 5 years year NNS cord-014712-5u4e00q6 188 6 the the DT cord-014712-5u4e00q6 188 7 ISPID ISPID NNP cord-014712-5u4e00q6 188 8 has have VBZ cord-014712-5u4e00q6 188 9 organized organize VBN cord-014712-5u4e00q6 188 10 2 2 CD cord-014712-5u4e00q6 188 11 International International NNP cord-014712-5u4e00q6 188 12 Conferences Conferences NNPS cord-014712-5u4e00q6 188 13 ( ( -LRB- cord-014712-5u4e00q6 188 14 at at IN cord-014712-5u4e00q6 188 15 New New NNP cord-014712-5u4e00q6 188 16 Delhi Delhi NNP cord-014712-5u4e00q6 188 17 and and CC cord-014712-5u4e00q6 188 18 Mumbai Mumbai NNP cord-014712-5u4e00q6 188 19 ) ) -RRB- cord-014712-5u4e00q6 188 20 , , , cord-014712-5u4e00q6 188 21 2 2 CD cord-014712-5u4e00q6 188 22 National National NNP cord-014712-5u4e00q6 188 23 Conferences Conferences NNPS cord-014712-5u4e00q6 188 24 ( ( -LRB- cord-014712-5u4e00q6 188 25 at at IN cord-014712-5u4e00q6 188 26 Chandigarh Chandigarh NNP cord-014712-5u4e00q6 188 27 and and CC cord-014712-5u4e00q6 188 28 Varanasi Varanasi NNP cord-014712-5u4e00q6 188 29 ) ) -RRB- cord-014712-5u4e00q6 188 30 and and CC cord-014712-5u4e00q6 188 31 2 2 CD cord-014712-5u4e00q6 188 32 Continuing Continuing NNP cord-014712-5u4e00q6 188 33 Medical Medical NNP cord-014712-5u4e00q6 188 34 Education Education NNP cord-014712-5u4e00q6 188 35 Programmes Programmes NNP cord-014712-5u4e00q6 188 36 ( ( -LRB- cord-014712-5u4e00q6 188 37 at at IN cord-014712-5u4e00q6 188 38 New New NNP cord-014712-5u4e00q6 188 39 Delhi Delhi NNP cord-014712-5u4e00q6 188 40 and and CC cord-014712-5u4e00q6 188 41 Lucknow Lucknow NNP cord-014712-5u4e00q6 188 42 ) ) -RRB- cord-014712-5u4e00q6 188 43 . . . cord-014712-5u4e00q6 189 1 These these DT cord-014712-5u4e00q6 189 2 meetings meeting NNS cord-014712-5u4e00q6 189 3 have have VBP cord-014712-5u4e00q6 189 4 served serve VBN cord-014712-5u4e00q6 189 5 to to TO cord-014712-5u4e00q6 189 6 act act VB cord-014712-5u4e00q6 189 7 as as IN cord-014712-5u4e00q6 189 8 catalysts catalyst NNS cord-014712-5u4e00q6 189 9 for for IN cord-014712-5u4e00q6 189 10 the the DT cord-014712-5u4e00q6 189 11 cause cause NN cord-014712-5u4e00q6 189 12 of of IN cord-014712-5u4e00q6 189 13 PIDs pid NNS cord-014712-5u4e00q6 189 14 and and CC cord-014712-5u4e00q6 189 15 have have VBP cord-014712-5u4e00q6 189 16 resulted result VBN cord-014712-5u4e00q6 189 17 in in IN cord-014712-5u4e00q6 189 18 increasing increase VBG cord-014712-5u4e00q6 189 19 the the DT cord-014712-5u4e00q6 189 20 awareness awareness NN cord-014712-5u4e00q6 189 21 about about IN cord-014712-5u4e00q6 189 22 these these DT cord-014712-5u4e00q6 189 23 conditions condition NNS cord-014712-5u4e00q6 189 24 amongst amongst IN cord-014712-5u4e00q6 189 25 paediatricians paediatrician NNS cord-014712-5u4e00q6 189 26 and and CC cord-014712-5u4e00q6 189 27 physicians physician NNS cord-014712-5u4e00q6 189 28 in in IN cord-014712-5u4e00q6 189 29 our -PRON- PRP$ cord-014712-5u4e00q6 189 30 country country NN cord-014712-5u4e00q6 189 31 . . . cord-014712-5u4e00q6 190 1 Several several JJ cord-014712-5u4e00q6 190 2 centres centre NNS cord-014712-5u4e00q6 190 3 now now RB cord-014712-5u4e00q6 190 4 have have VBP cord-014712-5u4e00q6 190 5 the the DT cord-014712-5u4e00q6 190 6 clinical clinical JJ cord-014712-5u4e00q6 190 7 skills skill NNS cord-014712-5u4e00q6 190 8 and and CC cord-014712-5u4e00q6 190 9 the the DT cord-014712-5u4e00q6 190 10 technical technical JJ cord-014712-5u4e00q6 190 11 wherewithal wherewithal NN cord-014712-5u4e00q6 190 12 to to TO cord-014712-5u4e00q6 190 13 perform perform VB cord-014712-5u4e00q6 190 14 laboratory laboratory NN cord-014712-5u4e00q6 190 15 investigations investigation NNS cord-014712-5u4e00q6 190 16 for for IN cord-014712-5u4e00q6 190 17 these these DT cord-014712-5u4e00q6 190 18 patients patient NNS cord-014712-5u4e00q6 190 19 . . . cord-014712-5u4e00q6 191 1 The the DT cord-014712-5u4e00q6 191 2 repertoire repertoire NN cord-014712-5u4e00q6 191 3 of of IN cord-014712-5u4e00q6 191 4 tests test NNS cord-014712-5u4e00q6 191 5 includes include VBZ cord-014712-5u4e00q6 191 6 nephelometery nephelometery NNP cord-014712-5u4e00q6 191 7 , , , cord-014712-5u4e00q6 191 8 ELISA ELISA NNP cord-014712-5u4e00q6 191 9 based base VBD cord-014712-5u4e00q6 191 10 tests test NNS cord-014712-5u4e00q6 191 11 and and CC cord-014712-5u4e00q6 191 12 flow flow NN cord-014712-5u4e00q6 191 13 cytometry cytometry NN cord-014712-5u4e00q6 191 14 . . . cord-014712-5u4e00q6 192 1 Facilities facility NNS cord-014712-5u4e00q6 192 2 for for IN cord-014712-5u4e00q6 192 3 molecular molecular JJ cord-014712-5u4e00q6 192 4 diagnosis diagnosis NN cord-014712-5u4e00q6 192 5 of of IN cord-014712-5u4e00q6 192 6 PIDs pid NNS cord-014712-5u4e00q6 192 7 are be VBP cord-014712-5u4e00q6 192 8 also also RB cord-014712-5u4e00q6 192 9 being be VBG cord-014712-5u4e00q6 192 10 developed develop VBN cord-014712-5u4e00q6 192 11 at at IN cord-014712-5u4e00q6 192 12 some some DT cord-014712-5u4e00q6 192 13 of of IN cord-014712-5u4e00q6 192 14 these these DT cord-014712-5u4e00q6 192 15 centres centre NNS cord-014712-5u4e00q6 192 16 . . . cord-014712-5u4e00q6 193 1 A a DT cord-014712-5u4e00q6 193 2 lot lot NN cord-014712-5u4e00q6 193 3 more more JJR cord-014712-5u4e00q6 193 4 , , , cord-014712-5u4e00q6 193 5 however however RB cord-014712-5u4e00q6 193 6 , , , cord-014712-5u4e00q6 193 7 needs need VBZ cord-014712-5u4e00q6 193 8 to to TO cord-014712-5u4e00q6 193 9 be be VB cord-014712-5u4e00q6 193 10 done do VBN cord-014712-5u4e00q6 193 11 . . . cord-014712-5u4e00q6 194 1 The the DT cord-014712-5u4e00q6 194 2 clinical clinical JJ cord-014712-5u4e00q6 194 3 phenotype phenotype NN cord-014712-5u4e00q6 194 4 of of IN cord-014712-5u4e00q6 194 5 several several JJ cord-014712-5u4e00q6 194 6 PIDs pid NNS cord-014712-5u4e00q6 194 7 in in IN cord-014712-5u4e00q6 194 8 India India NNP cord-014712-5u4e00q6 194 9 is be VBZ cord-014712-5u4e00q6 194 10 likely likely JJ cord-014712-5u4e00q6 194 11 to to TO cord-014712-5u4e00q6 194 12 be be VB cord-014712-5u4e00q6 194 13 different different JJ cord-014712-5u4e00q6 194 14 from from IN cord-014712-5u4e00q6 194 15 that that DT cord-014712-5u4e00q6 194 16 in in IN cord-014712-5u4e00q6 194 17 the the DT cord-014712-5u4e00q6 194 18 West West NNP cord-014712-5u4e00q6 194 19 1 1 CD cord-014712-5u4e00q6 194 20 . . . cord-014712-5u4e00q6 195 1 Further further RB cord-014712-5u4e00q6 195 2 , , , cord-014712-5u4e00q6 195 3 the the DT cord-014712-5u4e00q6 195 4 type type NN cord-014712-5u4e00q6 195 5 of of IN cord-014712-5u4e00q6 195 6 infections infection NNS cord-014712-5u4e00q6 195 7 in in IN cord-014712-5u4e00q6 195 8 these these DT cord-014712-5u4e00q6 195 9 patients patient NNS cord-014712-5u4e00q6 195 10 is be VBZ cord-014712-5u4e00q6 195 11 also also RB cord-014712-5u4e00q6 195 12 likely likely JJ cord-014712-5u4e00q6 195 13 to to TO cord-014712-5u4e00q6 195 14 be be VB cord-014712-5u4e00q6 195 15 different different JJ cord-014712-5u4e00q6 195 16 . . . cord-014712-5u4e00q6 196 1 This this DT cord-014712-5u4e00q6 196 2 is be VBZ cord-014712-5u4e00q6 196 3 because because IN cord-014712-5u4e00q6 196 4 of of IN cord-014712-5u4e00q6 196 5 the the DT cord-014712-5u4e00q6 196 6 differences difference NNS cord-014712-5u4e00q6 196 7 in in IN cord-014712-5u4e00q6 196 8 the the DT cord-014712-5u4e00q6 196 9 micro micro JJ cord-014712-5u4e00q6 196 10 - - HYPH cord-014712-5u4e00q6 196 11 and and CC cord-014712-5u4e00q6 196 12 macro macro JJ cord-014712-5u4e00q6 196 13 - - HYPH cord-014712-5u4e00q6 196 14 environment environment NN cord-014712-5u4e00q6 196 15 to to TO cord-014712-5u4e00q6 196 16 which which WDT cord-014712-5u4e00q6 196 17 these these DT cord-014712-5u4e00q6 196 18 patients patient NNS cord-014712-5u4e00q6 196 19 exposed expose VBN cord-014712-5u4e00q6 196 20 in in IN cord-014712-5u4e00q6 196 21 developing develop VBG cord-014712-5u4e00q6 196 22 countries country NNS cord-014712-5u4e00q6 196 23 . . . cord-014712-5u4e00q6 197 1 These these DT cord-014712-5u4e00q6 197 2 differences difference NNS cord-014712-5u4e00q6 197 3 have have VBP cord-014712-5u4e00q6 197 4 been be VBN cord-014712-5u4e00q6 197 5 well well RB cord-014712-5u4e00q6 197 6 brought bring VBN cord-014712-5u4e00q6 197 7 in in RP cord-014712-5u4e00q6 197 8 the the DT cord-014712-5u4e00q6 197 9 recent recent JJ cord-014712-5u4e00q6 197 10 publication publication NN cord-014712-5u4e00q6 197 11 on on IN cord-014712-5u4e00q6 197 12 chronic chronic JJ cord-014712-5u4e00q6 197 13 granulomatous granulomatous JJ cord-014712-5u4e00q6 197 14 disease disease NN cord-014712-5u4e00q6 197 15 from from IN cord-014712-5u4e00q6 197 16 our -PRON- PRP$ cord-014712-5u4e00q6 197 17 centre centre NN cord-014712-5u4e00q6 197 18 2 2 CD cord-014712-5u4e00q6 197 19 . . . cord-014712-5u4e00q6 198 1 Further further RB cord-014712-5u4e00q6 198 2 , , , cord-014712-5u4e00q6 198 3 the the DT cord-014712-5u4e00q6 198 4 genetic genetic JJ cord-014712-5u4e00q6 198 5 background background NN cord-014712-5u4e00q6 198 6 of of IN cord-014712-5u4e00q6 198 7 the the DT cord-014712-5u4e00q6 198 8 Indian indian JJ cord-014712-5u4e00q6 198 9 population population NN cord-014712-5u4e00q6 198 10 is be VBZ cord-014712-5u4e00q6 198 11 diverse diverse JJ cord-014712-5u4e00q6 198 12 and and CC cord-014712-5u4e00q6 198 13 several several JJ cord-014712-5u4e00q6 198 14 new new JJ cord-014712-5u4e00q6 198 15 mutations mutation NNS cord-014712-5u4e00q6 198 16 are be VBP cord-014712-5u4e00q6 198 17 likely likely JJ cord-014712-5u4e00q6 198 18 to to TO cord-014712-5u4e00q6 198 19 be be VB cord-014712-5u4e00q6 198 20 identified identify VBN cord-014712-5u4e00q6 198 21 amongst amongst IN cord-014712-5u4e00q6 198 22 these these DT cord-014712-5u4e00q6 198 23 patients patient NNS cord-014712-5u4e00q6 198 24 . . . cord-014712-5u4e00q6 199 1 The the DT cord-014712-5u4e00q6 199 2 Indian Indian NNP cord-014712-5u4e00q6 199 3 Council Council NNP cord-014712-5u4e00q6 199 4 of of IN cord-014712-5u4e00q6 199 5 Medical Medical NNP cord-014712-5u4e00q6 199 6 Research Research NNP cord-014712-5u4e00q6 199 7 has have VBZ cord-014712-5u4e00q6 199 8 taken take VBN cord-014712-5u4e00q6 199 9 up up RP cord-014712-5u4e00q6 199 10 the the DT cord-014712-5u4e00q6 199 11 lead lead NN cord-014712-5u4e00q6 199 12 in in IN cord-014712-5u4e00q6 199 13 this this DT cord-014712-5u4e00q6 199 14 regard regard NN cord-014712-5u4e00q6 199 15 and and CC cord-014712-5u4e00q6 199 16 is be VBZ cord-014712-5u4e00q6 199 17 proposing propose VBG cord-014712-5u4e00q6 199 18 to to TO cord-014712-5u4e00q6 199 19 set set VB cord-014712-5u4e00q6 199 20 up up RP cord-014712-5u4e00q6 199 21 2 2 CD cord-014712-5u4e00q6 199 22 Centres Centres NNPS cord-014712-5u4e00q6 199 23 for for IN cord-014712-5u4e00q6 199 24 Advanced Advanced NNP cord-014712-5u4e00q6 199 25 Research Research NNP cord-014712-5u4e00q6 199 26 ( ( -LRB- cord-014712-5u4e00q6 199 27 CARs car NNS cord-014712-5u4e00q6 199 28 ) ) -RRB- cord-014712-5u4e00q6 199 29 in in IN cord-014712-5u4e00q6 199 30 PIDs pid NNS cord-014712-5u4e00q6 199 31 -1 -1 : cord-014712-5u4e00q6 199 32 each each DT cord-014712-5u4e00q6 199 33 at at IN cord-014712-5u4e00q6 199 34 the the DT cord-014712-5u4e00q6 199 35 Post Post NNP cord-014712-5u4e00q6 199 36 Graduate Graduate NNP cord-014712-5u4e00q6 199 37 Institute Institute NNP cord-014712-5u4e00q6 199 38 of of IN cord-014712-5u4e00q6 199 39 Medical Medical NNP cord-014712-5u4e00q6 199 40 Education Education NNP cord-014712-5u4e00q6 199 41 and and CC cord-014712-5u4e00q6 199 42 Research Research NNP cord-014712-5u4e00q6 199 43 , , , cord-014712-5u4e00q6 199 44 Chandigarh Chandigarh NNP cord-014712-5u4e00q6 199 45 and and CC cord-014712-5u4e00q6 199 46 the the DT cord-014712-5u4e00q6 199 47 Institute Institute NNP cord-014712-5u4e00q6 199 48 of of IN cord-014712-5u4e00q6 199 49 Immunohematology Immunohematology NNP cord-014712-5u4e00q6 199 50 , , , cord-014712-5u4e00q6 199 51 Mumbai Mumbai NNP cord-014712-5u4e00q6 199 52 . . . cord-014712-5u4e00q6 200 1 The the DT cord-014712-5u4e00q6 200 2 Foundation Foundation NNP cord-014712-5u4e00q6 200 3 for for IN cord-014712-5u4e00q6 200 4 Primary Primary NNP cord-014712-5u4e00q6 200 5 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 200 6 ( ( -LRB- cord-014712-5u4e00q6 200 7 FPID FPID NNP cord-014712-5u4e00q6 200 8 ) ) -RRB- cord-014712-5u4e00q6 200 9 , , , cord-014712-5u4e00q6 200 10 USA USA NNP cord-014712-5u4e00q6 200 11 has have VBZ cord-014712-5u4e00q6 200 12 also also RB cord-014712-5u4e00q6 200 13 been be VBN cord-014712-5u4e00q6 200 14 closely closely RB cord-014712-5u4e00q6 200 15 involved involved JJ cord-014712-5u4e00q6 200 16 in in IN cord-014712-5u4e00q6 200 17 these these DT cord-014712-5u4e00q6 200 18 efforts effort NNS cord-014712-5u4e00q6 200 19 and and CC cord-014712-5u4e00q6 200 20 has have VBZ cord-014712-5u4e00q6 200 21 helped help VBN cord-014712-5u4e00q6 200 22 facilitate facilitate VB cord-014712-5u4e00q6 200 23 the the DT cord-014712-5u4e00q6 200 24 development development NN cord-014712-5u4e00q6 200 25 of of IN cord-014712-5u4e00q6 200 26 these these DT cord-014712-5u4e00q6 200 27 2 2 CD cord-014712-5u4e00q6 200 28 CARs car NNS cord-014712-5u4e00q6 200 29 . . . cord-014712-5u4e00q6 201 1 The the DT cord-014712-5u4e00q6 201 2 field field NN cord-014712-5u4e00q6 201 3 of of IN cord-014712-5u4e00q6 201 4 PID PID NNP cord-014712-5u4e00q6 201 5 research research NN cord-014712-5u4e00q6 201 6 in in IN cord-014712-5u4e00q6 201 7 India India NNP cord-014712-5u4e00q6 201 8 is be VBZ cord-014712-5u4e00q6 201 9 wide wide RB cord-014712-5u4e00q6 201 10 open open JJ cord-014712-5u4e00q6 201 11 and and CC cord-014712-5u4e00q6 201 12 we -PRON- PRP cord-014712-5u4e00q6 201 13 are be VBP cord-014712-5u4e00q6 201 14 likely likely JJ cord-014712-5u4e00q6 201 15 to to TO cord-014712-5u4e00q6 201 16 witness witness VB cord-014712-5u4e00q6 201 17 new new JJ cord-014712-5u4e00q6 201 18 and and CC cord-014712-5u4e00q6 201 19 exciting exciting JJ cord-014712-5u4e00q6 201 20 scientific scientific JJ cord-014712-5u4e00q6 201 21 developments development NNS cord-014712-5u4e00q6 201 22 in in IN cord-014712-5u4e00q6 201 23 the the DT cord-014712-5u4e00q6 201 24 coming come VBG cord-014712-5u4e00q6 201 25 years year NNS cord-014712-5u4e00q6 201 26 . . . cord-014712-5u4e00q6 202 1 References reference NNS cord-014712-5u4e00q6 202 2 : : : cord-014712-5u4e00q6 202 3 1 1 CD cord-014712-5u4e00q6 202 4 . . . cord-014712-5u4e00q6 203 1 Gupta Gupta NNP cord-014712-5u4e00q6 203 2 S S NNP cord-014712-5u4e00q6 203 3 , , , cord-014712-5u4e00q6 203 4 Madkaikar Madkaikar NNP cord-014712-5u4e00q6 203 5 M M NNP cord-014712-5u4e00q6 203 6 , , , cord-014712-5u4e00q6 203 7 Singh Singh NNP cord-014712-5u4e00q6 203 8 S S NNP cord-014712-5u4e00q6 203 9 , , , cord-014712-5u4e00q6 203 10 Sehgal Sehgal NNP cord-014712-5u4e00q6 203 11 S. S. NNP cord-014712-5u4e00q6 203 12 Primary primary JJ cord-014712-5u4e00q6 203 13 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 203 14 in in IN cord-014712-5u4e00q6 203 15 India India NNP cord-014712-5u4e00q6 203 16 : : : cord-014712-5u4e00q6 203 17 a a DT cord-014712-5u4e00q6 203 18 perspective perspective NN cord-014712-5u4e00q6 203 19 . . . cord-014712-5u4e00q6 204 1 Annals annals NN cord-014712-5u4e00q6 204 2 of of IN cord-014712-5u4e00q6 204 3 the the DT cord-014712-5u4e00q6 204 4 New New NNP cord-014712-5u4e00q6 204 5 York York NNP cord-014712-5u4e00q6 204 6 Academy Academy NNP cord-014712-5u4e00q6 204 7 of of IN cord-014712-5u4e00q6 204 8 Sciences Sciences NNPS cord-014712-5u4e00q6 204 9 2012 2012 CD cord-014712-5u4e00q6 204 10 ; ; : cord-014712-5u4e00q6 204 11 1250 1250 CD cord-014712-5u4e00q6 204 12 : : : cord-014712-5u4e00q6 204 13 73 73 CD cord-014712-5u4e00q6 204 14 - - SYM cord-014712-5u4e00q6 204 15 79 79 CD cord-014712-5u4e00q6 204 16 . . . cord-014712-5u4e00q6 205 1 the the DT cord-014712-5u4e00q6 205 2 prevention prevention NN cord-014712-5u4e00q6 205 3 of of IN cord-014712-5u4e00q6 205 4 PID PID NNP cord-014712-5u4e00q6 205 5 's 's POS cord-014712-5u4e00q6 205 6 complications complication NNS cord-014712-5u4e00q6 205 7 , , , cord-014712-5u4e00q6 205 8 the the DT cord-014712-5u4e00q6 205 9 improvement improvement NN cord-014712-5u4e00q6 205 10 of of IN cord-014712-5u4e00q6 205 11 the the DT cord-014712-5u4e00q6 205 12 health health NN cord-014712-5u4e00q6 205 13 care care NN cord-014712-5u4e00q6 205 14 of of IN cord-014712-5u4e00q6 205 15 patients patient NNS cord-014712-5u4e00q6 205 16 with with IN cord-014712-5u4e00q6 205 17 PID PID NNP cord-014712-5u4e00q6 205 18 , , , cord-014712-5u4e00q6 205 19 the the DT cord-014712-5u4e00q6 205 20 creation creation NN cord-014712-5u4e00q6 205 21 of of IN cord-014712-5u4e00q6 205 22 the the DT cord-014712-5u4e00q6 205 23 Registry Registry NNP cord-014712-5u4e00q6 205 24 of of IN cord-014712-5u4e00q6 205 25 the the DT cord-014712-5u4e00q6 205 26 patients patient NNS cord-014712-5u4e00q6 205 27 with with IN cord-014712-5u4e00q6 205 28 PID PID NNP cord-014712-5u4e00q6 205 29 , , , cord-014712-5u4e00q6 205 30 the the DT cord-014712-5u4e00q6 205 31 implementation implementation NN cord-014712-5u4e00q6 205 32 of of IN cord-014712-5u4e00q6 205 33 the the DT cord-014712-5u4e00q6 205 34 finance finance NN cord-014712-5u4e00q6 205 35 regulations regulation NNS cord-014712-5u4e00q6 205 36 for for IN cord-014712-5u4e00q6 205 37 detection detection NN cord-014712-5u4e00q6 205 38 and and CC cord-014712-5u4e00q6 205 39 treatment treatment NN cord-014712-5u4e00q6 205 40 of of IN cord-014712-5u4e00q6 205 41 patients patient NNS cord-014712-5u4e00q6 205 42 with with IN cord-014712-5u4e00q6 205 43 PID PID NNP cord-014712-5u4e00q6 205 44 diseases disease NNS cord-014712-5u4e00q6 205 45 in in IN cord-014712-5u4e00q6 205 46 public public JJ cord-014712-5u4e00q6 205 47 health health NN cord-014712-5u4e00q6 205 48 facilities facility NNS cord-014712-5u4e00q6 205 49 , , , cord-014712-5u4e00q6 205 50 the the DT cord-014712-5u4e00q6 205 51 training training NN cord-014712-5u4e00q6 205 52 and and CC cord-014712-5u4e00q6 205 53 professional professional JJ cord-014712-5u4e00q6 205 54 development development NN cord-014712-5u4e00q6 205 55 of of IN cord-014712-5u4e00q6 205 56 medical medical JJ cord-014712-5u4e00q6 205 57 professionals professional NNS cord-014712-5u4e00q6 205 58 in in IN cord-014712-5u4e00q6 205 59 this this DT cord-014712-5u4e00q6 205 60 field field NN cord-014712-5u4e00q6 205 61 . . . cord-014712-5u4e00q6 206 1 Objective objective NN cord-014712-5u4e00q6 206 2 : : : cord-014712-5u4e00q6 207 1 To to TO cord-014712-5u4e00q6 207 2 improve improve VB cord-014712-5u4e00q6 207 3 the the DT cord-014712-5u4e00q6 207 4 detection detection NN cord-014712-5u4e00q6 207 5 and and CC cord-014712-5u4e00q6 207 6 diagnosis diagnosis NN cord-014712-5u4e00q6 207 7 of of IN cord-014712-5u4e00q6 207 8 PID PID NNP cord-014712-5u4e00q6 207 9 diseases disease NNS cord-014712-5u4e00q6 207 10 and and CC cord-014712-5u4e00q6 207 11 the the DT cord-014712-5u4e00q6 207 12 life life NN cord-014712-5u4e00q6 207 13 quality quality NN cord-014712-5u4e00q6 207 14 of of IN cord-014712-5u4e00q6 207 15 patients patient NNS cord-014712-5u4e00q6 207 16 with with IN cord-014712-5u4e00q6 207 17 PID PID NNP cord-014712-5u4e00q6 207 18 in in IN cord-014712-5u4e00q6 207 19 the the DT cord-014712-5u4e00q6 207 20 Republic Republic NNP cord-014712-5u4e00q6 207 21 of of IN cord-014712-5u4e00q6 207 22 Kazakhstan Kazakhstan NNP cord-014712-5u4e00q6 207 23 . . . cord-014712-5u4e00q6 208 1 Undertaken undertake VBN cord-014712-5u4e00q6 208 2 activities activity NNS cord-014712-5u4e00q6 208 3 for for IN cord-014712-5u4e00q6 208 4 realization realization NN cord-014712-5u4e00q6 208 5 of of IN cord-014712-5u4e00q6 208 6 the the DT cord-014712-5u4e00q6 208 7 project project NN cord-014712-5u4e00q6 208 8 : : : cord-014712-5u4e00q6 208 9 1 1 CD cord-014712-5u4e00q6 208 10 . . . cord-014712-5u4e00q6 209 1 Professor Professor NNP cord-014712-5u4e00q6 209 2 . . . cord-014712-5u4e00q6 210 1 L. L. NNP cord-014712-5u4e00q6 210 2 Marodi Marodi NNP cord-014712-5u4e00q6 210 3 visited visit VBD cord-014712-5u4e00q6 210 4 Kazakhstan Kazakhstan NNP cord-014712-5u4e00q6 210 5 in in IN cord-014712-5u4e00q6 210 6 October October NNP cord-014712-5u4e00q6 210 7 2012 2012 CD cord-014712-5u4e00q6 210 8 and and CC cord-014712-5u4e00q6 210 9 the the DT cord-014712-5u4e00q6 210 10 meeting meeting NN cord-014712-5u4e00q6 210 11 was be VBD cord-014712-5u4e00q6 210 12 held hold VBN cord-014712-5u4e00q6 210 13 in in IN cord-014712-5u4e00q6 210 14 Ministry Ministry NNP cord-014712-5u4e00q6 210 15 of of IN cord-014712-5u4e00q6 210 16 Health Health NNP cord-014712-5u4e00q6 210 17 of of IN cord-014712-5u4e00q6 210 18 the the DT cord-014712-5u4e00q6 210 19 Republic Republic NNP cord-014712-5u4e00q6 210 20 of of IN cord-014712-5u4e00q6 210 21 Kazakhstan Kazakhstan NNP cord-014712-5u4e00q6 210 22 , , , cord-014712-5u4e00q6 210 23 presentations presentation NNS cord-014712-5u4e00q6 210 24 were be VBD cord-014712-5u4e00q6 210 25 given give VBN cord-014712-5u4e00q6 210 26 at at IN cord-014712-5u4e00q6 210 27 the the DT cord-014712-5u4e00q6 210 28 international international JJ cord-014712-5u4e00q6 210 29 conference conference NN cord-014712-5u4e00q6 210 30 held hold VBN cord-014712-5u4e00q6 210 31 in in IN cord-014712-5u4e00q6 210 32 National National NNP cord-014712-5u4e00q6 210 33 Research Research NNP cord-014712-5u4e00q6 210 34 Center Center NNP cord-014712-5u4e00q6 210 35 for for IN cord-014712-5u4e00q6 210 36 Maternal Maternal NNP cord-014712-5u4e00q6 210 37 and and CC cord-014712-5u4e00q6 210 38 Child Child NNP cord-014712-5u4e00q6 210 39 Health Health NNP cord-014712-5u4e00q6 210 40 , , , cord-014712-5u4e00q6 210 41 the the DT cord-014712-5u4e00q6 210 42 negotiations negotiation NNS cord-014712-5u4e00q6 210 43 with with IN cord-014712-5u4e00q6 210 44 Heads head NNS cord-014712-5u4e00q6 210 45 of of IN cord-014712-5u4e00q6 210 46 the the DT cord-014712-5u4e00q6 210 47 National National NNP cord-014712-5u4e00q6 210 48 Medical Medical NNP cord-014712-5u4e00q6 210 49 Holding Holding NNP cord-014712-5u4e00q6 210 50 ' ' POS cord-014712-5u4e00q6 210 51 clinics clinic NNS cord-014712-5u4e00q6 210 52 and and CC cord-014712-5u4e00q6 210 53 Scientific Scientific NNP cord-014712-5u4e00q6 210 54 Center Center NNP cord-014712-5u4e00q6 210 55 of of IN cord-014712-5u4e00q6 210 56 Pediatrics Pediatrics NNP cord-014712-5u4e00q6 210 57 and and CC cord-014712-5u4e00q6 210 58 Pediatric Pediatric NNP cord-014712-5u4e00q6 210 59 Surgery Surgery NNP cord-014712-5u4e00q6 210 60 were be VBD cord-014712-5u4e00q6 210 61 held hold VBN cord-014712-5u4e00q6 210 62 . . . cord-014712-5u4e00q6 211 1 International International NNP cord-014712-5u4e00q6 211 2 Islamic Islamic NNP cord-014712-5u4e00q6 211 3 University University NNP cord-014712-5u4e00q6 211 4 , , , cord-014712-5u4e00q6 211 5 Kuantan Kuantan NNP cord-014712-5u4e00q6 211 6 Pahang Pahang NNP cord-014712-5u4e00q6 211 7 , , , cord-014712-5u4e00q6 211 8 Malaysia Malaysia NNP cord-014712-5u4e00q6 211 9 . . . cord-014712-5u4e00q6 212 1 Two two CD cord-014712-5u4e00q6 212 2 hundred hundred CD cord-014712-5u4e00q6 212 3 and and CC cord-014712-5u4e00q6 212 4 sixty sixty CD cord-014712-5u4e00q6 212 5 three three CD cord-014712-5u4e00q6 212 6 ( ( -LRB- cord-014712-5u4e00q6 212 7 263 263 CD cord-014712-5u4e00q6 212 8 ) ) -RRB- cord-014712-5u4e00q6 212 9 suspected suspect VBN cord-014712-5u4e00q6 212 10 PID PID NNP cord-014712-5u4e00q6 212 11 ( ( -LRB- cord-014712-5u4e00q6 212 12 primary primary JJ cord-014712-5u4e00q6 212 13 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 212 14 ) ) -RRB- cord-014712-5u4e00q6 212 15 cases case NNS cord-014712-5u4e00q6 212 16 were be VBD cord-014712-5u4e00q6 212 17 referred refer VBN cord-014712-5u4e00q6 212 18 to to IN cord-014712-5u4e00q6 212 19 clinical clinical JJ cord-014712-5u4e00q6 212 20 immunologist immunologist NN cord-014712-5u4e00q6 212 21 led lead VBN cord-014712-5u4e00q6 212 22 clinics clinic NNS cord-014712-5u4e00q6 212 23 in in IN cord-014712-5u4e00q6 212 24 Malaysia Malaysia NNP cord-014712-5u4e00q6 212 25 from from IN cord-014712-5u4e00q6 212 26 1986 1986 CD cord-014712-5u4e00q6 212 27 -2013 -2013 NNS cord-014712-5u4e00q6 212 28 . . . cord-014712-5u4e00q6 213 1 Patients patient NNS cord-014712-5u4e00q6 213 2 referred refer VBN cord-014712-5u4e00q6 213 3 were be VBD cord-014712-5u4e00q6 213 4 from from IN cord-014712-5u4e00q6 213 5 all all DT cord-014712-5u4e00q6 213 6 states state NNS cord-014712-5u4e00q6 213 7 of of IN cord-014712-5u4e00q6 213 8 Malaysia Malaysia NNP cord-014712-5u4e00q6 213 9 and and CC cord-014712-5u4e00q6 213 10 seen see VBN cord-014712-5u4e00q6 213 11 at at IN cord-014712-5u4e00q6 213 12 the the DT cord-014712-5u4e00q6 213 13 institute institute NN cord-014712-5u4e00q6 213 14 of of IN cord-014712-5u4e00q6 213 15 Pediatric Pediatric NNP cord-014712-5u4e00q6 213 16 , , , cord-014712-5u4e00q6 213 17 Hospital Hospital NNP cord-014712-5u4e00q6 213 18 Kuala Kuala NNP cord-014712-5u4e00q6 213 19 Lumpur Lumpur NNP cord-014712-5u4e00q6 213 20 and and CC cord-014712-5u4e00q6 213 21 university university NN cord-014712-5u4e00q6 213 22 associated associate VBD cord-014712-5u4e00q6 213 23 Hospitals Hospitals NNP cord-014712-5u4e00q6 213 24 in in IN cord-014712-5u4e00q6 213 25 North North NNP cord-014712-5u4e00q6 213 26 and and CC cord-014712-5u4e00q6 213 27 Central Central NNP cord-014712-5u4e00q6 213 28 Peninsular Peninsular NNP cord-014712-5u4e00q6 213 29 Malaysia Malaysia NNP cord-014712-5u4e00q6 214 1 The the DT cord-014712-5u4e00q6 214 2 initial initial JJ cord-014712-5u4e00q6 214 3 PID pid NN cord-014712-5u4e00q6 214 4 patients patient NNS cord-014712-5u4e00q6 214 5 were be VBD cord-014712-5u4e00q6 214 6 seen see VBN cord-014712-5u4e00q6 214 7 by by IN cord-014712-5u4e00q6 214 8 -1 -1 NN cord-014712-5u4e00q6 215 1 pediatric pediatric JJ cord-014712-5u4e00q6 215 2 immunologist immunologist NN cord-014712-5u4e00q6 215 3 between between IN cord-014712-5u4e00q6 215 4 1986 1986 CD cord-014712-5u4e00q6 215 5 - - SYM cord-014712-5u4e00q6 215 6 2006 2006 CD cord-014712-5u4e00q6 215 7 followed follow VBD cord-014712-5u4e00q6 215 8 by by IN cord-014712-5u4e00q6 215 9 another another DT cord-014712-5u4e00q6 215 10 2 2 CD cord-014712-5u4e00q6 215 11 , , , cord-014712-5u4e00q6 215 12 beginning begin VBG cord-014712-5u4e00q6 215 13 in in IN cord-014712-5u4e00q6 215 14 2007 2007 CD cord-014712-5u4e00q6 215 15 followed follow VBN cord-014712-5u4e00q6 215 16 by by IN cord-014712-5u4e00q6 215 17 the the DT cord-014712-5u4e00q6 215 18 other other JJ cord-014712-5u4e00q6 215 19 in in IN cord-014712-5u4e00q6 215 20 2012 2012 CD cord-014712-5u4e00q6 215 21 . . . cord-014712-5u4e00q6 216 1 There there EX cord-014712-5u4e00q6 216 2 were be VBD cord-014712-5u4e00q6 216 3 168 168 CD cord-014712-5u4e00q6 216 4 ( ( -LRB- cord-014712-5u4e00q6 216 5 68.7 68.7 CD cord-014712-5u4e00q6 216 6 % % NN cord-014712-5u4e00q6 216 7 ) ) -RRB- cord-014712-5u4e00q6 216 8 patients patient NNS cord-014712-5u4e00q6 216 9 with with IN cord-014712-5u4e00q6 216 10 at at RB cord-014712-5u4e00q6 216 11 least least JJS cord-014712-5u4e00q6 216 12 1 1 CD cord-014712-5u4e00q6 216 13 abnormality abnormality NN cord-014712-5u4e00q6 216 14 on on IN cord-014712-5u4e00q6 216 15 the the DT cord-014712-5u4e00q6 216 16 immune immune JJ cord-014712-5u4e00q6 216 17 prameter prameter NN cord-014712-5u4e00q6 216 18 recorded record VBD cord-014712-5u4e00q6 216 19 and and CC cord-014712-5u4e00q6 216 20 regarded regard VBN cord-014712-5u4e00q6 216 21 as as IN cord-014712-5u4e00q6 216 22 probable probable JJ cord-014712-5u4e00q6 216 23 PID pid NN cord-014712-5u4e00q6 216 24 . . . cord-014712-5u4e00q6 217 1 However however RB cord-014712-5u4e00q6 217 2 153 153 CD cord-014712-5u4e00q6 217 3 ( ( -LRB- cord-014712-5u4e00q6 217 4 62.7 62.7 CD cord-014712-5u4e00q6 217 5 % % NN cord-014712-5u4e00q6 217 6 ) ) -RRB- cord-014712-5u4e00q6 217 7 were be VBD cord-014712-5u4e00q6 217 8 recorded record VBN cord-014712-5u4e00q6 217 9 as as IN cord-014712-5u4e00q6 217 10 PID PID NNP cord-014712-5u4e00q6 217 11 based base VBN cord-014712-5u4e00q6 217 12 on on IN cord-014712-5u4e00q6 217 13 existing exist VBG cord-014712-5u4e00q6 217 14 criteria criterion NNS cord-014712-5u4e00q6 217 15 . . . cord-014712-5u4e00q6 218 1 ( ( -LRB- cord-014712-5u4e00q6 218 2 WHO WHO NNP cord-014712-5u4e00q6 218 3 Scientific Scientific NNP cord-014712-5u4e00q6 218 4 Committee Committee NNP cord-014712-5u4e00q6 218 5 1986 1986 CD cord-014712-5u4e00q6 218 6 , , , cord-014712-5u4e00q6 218 7 IUIS IUIS NNP cord-014712-5u4e00q6 218 8 Scientific Scientific NNP cord-014712-5u4e00q6 218 9 Committee Committee NNP cord-014712-5u4e00q6 218 10 , , , cord-014712-5u4e00q6 218 11 primary primary JJ cord-014712-5u4e00q6 218 12 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 218 13 disease.1999 disease.1999 NN cord-014712-5u4e00q6 218 14 ) ) -RRB- cord-014712-5u4e00q6 219 1 Our -PRON- PRP$ cord-014712-5u4e00q6 219 2 population population NN cord-014712-5u4e00q6 219 3 were be VBD cord-014712-5u4e00q6 219 4 mainly mainly RB cord-014712-5u4e00q6 219 5 children child NNS cord-014712-5u4e00q6 219 6 , , , cord-014712-5u4e00q6 219 7 83 83 CD cord-014712-5u4e00q6 219 8 % % NN cord-014712-5u4e00q6 219 9 below below IN cord-014712-5u4e00q6 219 10 10 10 CD cord-014712-5u4e00q6 219 11 years year NNS cord-014712-5u4e00q6 219 12 and and CC cord-014712-5u4e00q6 219 13 36 36 CD cord-014712-5u4e00q6 219 14 % % NN cord-014712-5u4e00q6 219 15 below below IN cord-014712-5u4e00q6 219 16 1 1 CD cord-014712-5u4e00q6 219 17 year year NN cord-014712-5u4e00q6 219 18 . . . cord-014712-5u4e00q6 220 1 Only only RB cord-014712-5u4e00q6 220 2 3 3 CD cord-014712-5u4e00q6 220 3 were be VBD cord-014712-5u4e00q6 220 4 above above IN cord-014712-5u4e00q6 220 5 18 18 CD cord-014712-5u4e00q6 220 6 years year NNS cord-014712-5u4e00q6 220 7 . . . cord-014712-5u4e00q6 221 1 PID PID NNP cord-014712-5u4e00q6 221 2 were be VBD cord-014712-5u4e00q6 221 3 classified classify VBN cord-014712-5u4e00q6 221 4 as as IN cord-014712-5u4e00q6 221 5 ; ; : cord-014712-5u4e00q6 221 6 predominant predominant JJ cord-014712-5u4e00q6 221 7 Antibody Antibody NNP cord-014712-5u4e00q6 221 8 deficiencies deficiency NNS cord-014712-5u4e00q6 221 9 34 34 CD cord-014712-5u4e00q6 221 10 % % NN cord-014712-5u4e00q6 221 11 , , , cord-014712-5u4e00q6 221 12 combined combine VBN cord-014712-5u4e00q6 221 13 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 221 14 19.3 19.3 CD cord-014712-5u4e00q6 221 15 % % NN cord-014712-5u4e00q6 221 16 , , , cord-014712-5u4e00q6 221 17 other other JJ cord-014712-5u4e00q6 221 18 cellular cellular JJ cord-014712-5u4e00q6 221 19 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 221 20 14.7 14.7 CD cord-014712-5u4e00q6 221 21 % % NN cord-014712-5u4e00q6 221 22 , , , cord-014712-5u4e00q6 221 23 phagogocytic phagogocytic JJ cord-014712-5u4e00q6 221 24 defect defect NN cord-014712-5u4e00q6 221 25 11.3 11.3 CD cord-014712-5u4e00q6 221 26 % % NN cord-014712-5u4e00q6 221 27 , , , cord-014712-5u4e00q6 221 28 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 221 29 associated associate VBD cord-014712-5u4e00q6 221 30 lymphoproliferative lymphoproliferative JJ cord-014712-5u4e00q6 221 31 disorders disorder NNS cord-014712-5u4e00q6 221 32 2 2 CD cord-014712-5u4e00q6 221 33 % % NN cord-014712-5u4e00q6 221 34 . . . cord-014712-5u4e00q6 222 1 Our -PRON- PRP$ cord-014712-5u4e00q6 222 2 data datum NNS cord-014712-5u4e00q6 222 3 differed differ VBD cord-014712-5u4e00q6 222 4 from from IN cord-014712-5u4e00q6 222 5 most most JJS cord-014712-5u4e00q6 222 6 classification classification NN cord-014712-5u4e00q6 222 7 where where WRB cord-014712-5u4e00q6 222 8 predominant predominant JJ cord-014712-5u4e00q6 222 9 antibody antibody NN cord-014712-5u4e00q6 222 10 deficiency deficiency NN cord-014712-5u4e00q6 222 11 is be VBZ cord-014712-5u4e00q6 222 12 most most RBS cord-014712-5u4e00q6 222 13 frequent frequent JJ cord-014712-5u4e00q6 222 14 as as RB cord-014712-5u4e00q6 222 15 high high JJ cord-014712-5u4e00q6 222 16 as as IN cord-014712-5u4e00q6 222 17 65 65 CD cord-014712-5u4e00q6 222 18 % % NN cord-014712-5u4e00q6 222 19 , , , cord-014712-5u4e00q6 222 20 ( ( -LRB- cord-014712-5u4e00q6 222 21 Steihm Steihm NNP cord-014712-5u4e00q6 222 22 , , , cord-014712-5u4e00q6 222 23 2004 2004 CD cord-014712-5u4e00q6 222 24 ) ) -RRB- cord-014712-5u4e00q6 222 25 . . . cord-014712-5u4e00q6 223 1 Of of IN cord-014712-5u4e00q6 223 2 the the DT cord-014712-5u4e00q6 223 3 specific specific JJ cord-014712-5u4e00q6 223 4 153 153 CD cord-014712-5u4e00q6 223 5 PID pid NN cord-014712-5u4e00q6 223 6 recorded record VBN cord-014712-5u4e00q6 223 7 , , , cord-014712-5u4e00q6 223 8 X X NNP cord-014712-5u4e00q6 223 9 linked link VBD cord-014712-5u4e00q6 223 10 a a DT cord-014712-5u4e00q6 223 11 gammaglobulinemia gammaglobulinemia NN cord-014712-5u4e00q6 223 12 ( ( -LRB- cord-014712-5u4e00q6 223 13 XLA XLA NNP cord-014712-5u4e00q6 223 14 ) ) -RRB- cord-014712-5u4e00q6 223 15 19 19 CD cord-014712-5u4e00q6 223 16 , , , cord-014712-5u4e00q6 223 17 hyper hyper NNP cord-014712-5u4e00q6 223 18 IgM IgM NNP cord-014712-5u4e00q6 223 19 syndrome syndrome NN cord-014712-5u4e00q6 223 20 ( ( -LRB- cord-014712-5u4e00q6 223 21 HIGM HIGM NNP cord-014712-5u4e00q6 223 22 ) ) -RRB- cord-014712-5u4e00q6 223 23 11 11 CD cord-014712-5u4e00q6 223 24 , , , cord-014712-5u4e00q6 223 25 common common JJ cord-014712-5u4e00q6 223 26 variable variable NN cord-014712-5u4e00q6 223 27 Immunodeficiencis Immunodeficiencis NNP cord-014712-5u4e00q6 223 28 ( ( -LRB- cord-014712-5u4e00q6 223 29 CVID CVID NNP cord-014712-5u4e00q6 223 30 7 7 CD cord-014712-5u4e00q6 223 31 ) ) -RRB- cord-014712-5u4e00q6 223 32 , , , cord-014712-5u4e00q6 223 33 selective selective JJ cord-014712-5u4e00q6 223 34 IgA IgA NNP cord-014712-5u4e00q6 223 35 deficiencies deficiency NNS cord-014712-5u4e00q6 224 1 7 7 CD cord-014712-5u4e00q6 224 2 severe severe JJ cord-014712-5u4e00q6 224 3 combined combine VBN cord-014712-5u4e00q6 224 4 Immunodeficiencies Immunodeficiencies NNP cord-014712-5u4e00q6 224 5 ( ( -LRB- cord-014712-5u4e00q6 224 6 SCID SCID NNP cord-014712-5u4e00q6 224 7 ) ) -RRB- cord-014712-5u4e00q6 224 8 17 17 CD cord-014712-5u4e00q6 224 9 , , , cord-014712-5u4e00q6 224 10 Di Di NNP cord-014712-5u4e00q6 224 11 George George NNP cord-014712-5u4e00q6 224 12 syndrome syndrome NN cord-014712-5u4e00q6 225 1 ( ( -LRB- cord-014712-5u4e00q6 225 2 DGS)12,chronic DGS)12,chronic NNP cord-014712-5u4e00q6 225 3 granlomatous granlomatous JJ cord-014712-5u4e00q6 225 4 Disease Disease NNP cord-014712-5u4e00q6 225 5 ( ( -LRB- cord-014712-5u4e00q6 225 6 CGD CGD NNP cord-014712-5u4e00q6 225 7 ) ) -RRB- cord-014712-5u4e00q6 225 8 14 14 CD cord-014712-5u4e00q6 225 9 , , , cord-014712-5u4e00q6 225 10 hyper hyper JJ cord-014712-5u4e00q6 225 11 Immunoglobulin Immunoglobulin NNP cord-014712-5u4e00q6 225 12 E e NN cord-014712-5u4e00q6 225 13 syndrome syndrome NN cord-014712-5u4e00q6 225 14 ( ( -LRB- cord-014712-5u4e00q6 225 15 HIGE HIGE NNP cord-014712-5u4e00q6 225 16 ) ) -RRB- cord-014712-5u4e00q6 225 17 14 14 CD cord-014712-5u4e00q6 225 18 , , , cord-014712-5u4e00q6 225 19 primary primary JJ cord-014712-5u4e00q6 225 20 CD4 CD4 NNP cord-014712-5u4e00q6 225 21 deficiencies deficiency NNS cord-014712-5u4e00q6 225 22 6 6 CD cord-014712-5u4e00q6 225 23 , , , cord-014712-5u4e00q6 225 24 ataxia ataxia NNP cord-014712-5u4e00q6 225 25 telangiectassi telangiectassi NNP cord-014712-5u4e00q6 225 26 3 3 CD cord-014712-5u4e00q6 225 27 % % NN cord-014712-5u4e00q6 226 1 Malaysia Malaysia NNP cord-014712-5u4e00q6 226 2 comprises comprise VBZ cord-014712-5u4e00q6 226 3 of of IN cord-014712-5u4e00q6 226 4 multi multi JJ cord-014712-5u4e00q6 226 5 ethnic ethnic JJ cord-014712-5u4e00q6 226 6 groups group NNS cord-014712-5u4e00q6 226 7 with with IN cord-014712-5u4e00q6 226 8 a a DT cord-014712-5u4e00q6 226 9 population population NN cord-014712-5u4e00q6 226 10 of of IN cord-014712-5u4e00q6 226 11 29.6 29.6 CD cord-014712-5u4e00q6 226 12 million million CD cord-014712-5u4e00q6 226 13 in in IN cord-014712-5u4e00q6 226 14 2013 2013 CD cord-014712-5u4e00q6 226 15 . . . cord-014712-5u4e00q6 227 1 PID PID NNP cord-014712-5u4e00q6 227 2 amongst amongst IN cord-014712-5u4e00q6 227 3 them -PRON- PRP cord-014712-5u4e00q6 227 4 showed show VBD cord-014712-5u4e00q6 227 5 , , , cord-014712-5u4e00q6 227 6 Malays Malays NNPS cord-014712-5u4e00q6 227 7 at at IN cord-014712-5u4e00q6 227 8 61.4 61.4 CD cord-014712-5u4e00q6 227 9 % % NN cord-014712-5u4e00q6 227 10 , , , cord-014712-5u4e00q6 227 11 Chinese chinese JJ cord-014712-5u4e00q6 227 12 11 11 CD cord-014712-5u4e00q6 227 13 % % NN cord-014712-5u4e00q6 227 14 , , , cord-014712-5u4e00q6 227 15 Indians Indians NNPS cord-014712-5u4e00q6 227 16 23.7 23.7 CD cord-014712-5u4e00q6 227 17 % % NN cord-014712-5u4e00q6 227 18 and and CC cord-014712-5u4e00q6 227 19 others other NNS cord-014712-5u4e00q6 227 20 5.2 5.2 CD cord-014712-5u4e00q6 227 21 % % NN cord-014712-5u4e00q6 227 22 whilst whilst IN cord-014712-5u4e00q6 227 23 the the DT cord-014712-5u4e00q6 227 24 male male NN cord-014712-5u4e00q6 227 25 predominate predominate VBP cord-014712-5u4e00q6 227 26 over over IN cord-014712-5u4e00q6 227 27 female female NN cord-014712-5u4e00q6 227 28 at at IN cord-014712-5u4e00q6 227 29 a a DT cord-014712-5u4e00q6 227 30 ratio ratio NN cord-014712-5u4e00q6 227 31 of of IN cord-014712-5u4e00q6 227 32 2.8:1 2.8:1 CD cord-014712-5u4e00q6 227 33 . . . cord-014712-5u4e00q6 228 1 Family family NN cord-014712-5u4e00q6 228 2 history history NN cord-014712-5u4e00q6 228 3 of of IN cord-014712-5u4e00q6 228 4 affected affected JJ cord-014712-5u4e00q6 228 5 sibling sibling NN cord-014712-5u4e00q6 228 6 or or CC cord-014712-5u4e00q6 228 7 in in IN cord-014712-5u4e00q6 228 8 first first JJ cord-014712-5u4e00q6 228 9 degree degree NN cord-014712-5u4e00q6 228 10 relative relative NN cord-014712-5u4e00q6 228 11 , , , cord-014712-5u4e00q6 228 12 or or CC cord-014712-5u4e00q6 228 13 early early JJ cord-014712-5u4e00q6 228 14 death death NN cord-014712-5u4e00q6 228 15 with with IN cord-014712-5u4e00q6 228 16 suspected suspect VBN cord-014712-5u4e00q6 228 17 infant infant NN cord-014712-5u4e00q6 228 18 dying dying NN cord-014712-5u4e00q6 228 19 of of IN cord-014712-5u4e00q6 228 20 infection infection NN cord-014712-5u4e00q6 228 21 was be VBD cord-014712-5u4e00q6 228 22 positive positive JJ cord-014712-5u4e00q6 228 23 in in IN cord-014712-5u4e00q6 228 24 53.3 53.3 CD cord-014712-5u4e00q6 228 25 % % NN cord-014712-5u4e00q6 228 26 which which WDT cord-014712-5u4e00q6 228 27 is be VBZ cord-014712-5u4e00q6 228 28 higher high JJR cord-014712-5u4e00q6 228 29 than than IN cord-014712-5u4e00q6 228 30 in in IN cord-014712-5u4e00q6 228 31 most most JJS cord-014712-5u4e00q6 228 32 reports report NNS cord-014712-5u4e00q6 228 33 eg eg VBP cord-014712-5u4e00q6 228 34 Egypt Egypt NNP cord-014712-5u4e00q6 228 35 23.4 23.4 CD cord-014712-5u4e00q6 228 36 % % NN cord-014712-5u4e00q6 228 37 ( ( -LRB- cord-014712-5u4e00q6 228 38 Reeda Reeda NNP cord-014712-5u4e00q6 228 39 2009 2009 CD cord-014712-5u4e00q6 228 40 ) ) -RRB- cord-014712-5u4e00q6 228 41 . . . cord-014712-5u4e00q6 229 1 This this DT cord-014712-5u4e00q6 229 2 could could MD cord-014712-5u4e00q6 229 3 be be VB cord-014712-5u4e00q6 229 4 due due JJ cord-014712-5u4e00q6 229 5 to to IN cord-014712-5u4e00q6 229 6 high high JJ cord-014712-5u4e00q6 229 7 consanguinity consanguinity NN cord-014712-5u4e00q6 229 8 in in IN cord-014712-5u4e00q6 229 9 the the DT cord-014712-5u4e00q6 229 10 population population NN cord-014712-5u4e00q6 229 11 . . . cord-014712-5u4e00q6 230 1 Alternatively alternatively RB cord-014712-5u4e00q6 230 2 the the DT cord-014712-5u4e00q6 230 3 symptomatic symptomatic JJ cord-014712-5u4e00q6 230 4 sibling sibling NN cord-014712-5u4e00q6 230 5 of of IN cord-014712-5u4e00q6 230 6 affected affected JJ cord-014712-5u4e00q6 230 7 patients patient NNS cord-014712-5u4e00q6 230 8 is be VBZ cord-014712-5u4e00q6 230 9 more more RBR cord-014712-5u4e00q6 230 10 likely likely JJ cord-014712-5u4e00q6 230 11 to to TO cord-014712-5u4e00q6 230 12 be be VB cord-014712-5u4e00q6 230 13 referred refer VBN cord-014712-5u4e00q6 230 14 to to IN cord-014712-5u4e00q6 230 15 the the DT cord-014712-5u4e00q6 230 16 clinical clinical JJ cord-014712-5u4e00q6 230 17 immunologist immunologist NN cord-014712-5u4e00q6 230 18 . . . cord-014712-5u4e00q6 231 1 SCID SCID NNP cord-014712-5u4e00q6 231 2 records record VBZ cord-014712-5u4e00q6 231 3 the the DT cord-014712-5u4e00q6 231 4 most most RBS cord-014712-5u4e00q6 231 5 varied varied JJ cord-014712-5u4e00q6 231 6 organism organism NN cord-014712-5u4e00q6 231 7 from from IN cord-014712-5u4e00q6 231 8 the the DT cord-014712-5u4e00q6 231 9 positive positive JJ cord-014712-5u4e00q6 231 10 microbiological microbiological JJ cord-014712-5u4e00q6 231 11 isolate isolate NN cord-014712-5u4e00q6 232 1 viz viz NNP cord-014712-5u4e00q6 232 2 bacteria bacteria NNS cord-014712-5u4e00q6 232 3 4 4 CD cord-014712-5u4e00q6 232 4 , , , cord-014712-5u4e00q6 232 5 fungus fungus NN cord-014712-5u4e00q6 232 6 2 2 CD cord-014712-5u4e00q6 232 7 , , , cord-014712-5u4e00q6 232 8 virus virus NN cord-014712-5u4e00q6 232 9 1 1 CD cord-014712-5u4e00q6 232 10 , , , cord-014712-5u4e00q6 232 11 parasite parasite NN cord-014712-5u4e00q6 232 12 2 2 CD cord-014712-5u4e00q6 232 13 . . . cord-014712-5u4e00q6 233 1 Chromobacterium Chromobacterium NNP cord-014712-5u4e00q6 233 2 violaceum violaceum NNP cord-014712-5u4e00q6 233 3 was be VBD cord-014712-5u4e00q6 233 4 seen see VBN cord-014712-5u4e00q6 233 5 in in IN cord-014712-5u4e00q6 233 6 3 3 CD cord-014712-5u4e00q6 233 7 CGD CGD NNP cord-014712-5u4e00q6 233 8 patients patient NNS cord-014712-5u4e00q6 233 9 in in IN cord-014712-5u4e00q6 233 10 which which WDT cord-014712-5u4e00q6 233 11 2 2 CD cord-014712-5u4e00q6 233 12 deteriorated deteriorate VBD cord-014712-5u4e00q6 233 13 with with IN cord-014712-5u4e00q6 233 14 eventual eventual JJ cord-014712-5u4e00q6 233 15 death death NN cord-014712-5u4e00q6 233 16 . . . cord-014712-5u4e00q6 234 1 As as IN cord-014712-5u4e00q6 234 2 in in IN cord-014712-5u4e00q6 234 3 many many JJ cord-014712-5u4e00q6 234 4 national national JJ cord-014712-5u4e00q6 234 5 registries registry NNS cord-014712-5u4e00q6 234 6 diagnostic diagnostic JJ cord-014712-5u4e00q6 234 7 delays delay NNS cord-014712-5u4e00q6 234 8 remains remain VBZ cord-014712-5u4e00q6 234 9 prominent prominent JJ cord-014712-5u4e00q6 234 10 . . . cord-014712-5u4e00q6 235 1 In in IN cord-014712-5u4e00q6 235 2 our -PRON- PRP$ cord-014712-5u4e00q6 235 3 series series NN cord-014712-5u4e00q6 235 4 the the DT cord-014712-5u4e00q6 235 5 mean mean JJ cord-014712-5u4e00q6 235 6 diagnostic diagnostic JJ cord-014712-5u4e00q6 235 7 delay delay NN cord-014712-5u4e00q6 235 8 was be VBD cord-014712-5u4e00q6 235 9 o o NN cord-014712-5u4e00q6 235 10 3.61 3.61 CD cord-014712-5u4e00q6 235 11 ± ± CD cord-014712-5u4e00q6 235 12 4.82 4.82 CD cord-014712-5u4e00q6 235 13 years year NNS cord-014712-5u4e00q6 235 14 . . . cord-014712-5u4e00q6 236 1 In in IN cord-014712-5u4e00q6 236 2 comparison comparison NN cord-014712-5u4e00q6 236 3 Thailand Thailand NNP cord-014712-5u4e00q6 236 4 stands stand VBZ cord-014712-5u4e00q6 236 5 at at IN cord-014712-5u4e00q6 236 6 2.1 2.1 CD cord-014712-5u4e00q6 236 7 ± ± CD cord-014712-5u4e00q6 236 8 2.6 2.6 CD cord-014712-5u4e00q6 236 9 years year NNS cord-014712-5u4e00q6 236 10 , , , cord-014712-5u4e00q6 236 11 while while IN cord-014712-5u4e00q6 236 12 France France NNP cord-014712-5u4e00q6 236 13 , , , cord-014712-5u4e00q6 236 14 a a DT cord-014712-5u4e00q6 236 15 median median NN cord-014712-5u4e00q6 236 16 of of IN cord-014712-5u4e00q6 236 17 1.3 1.3 CD cord-014712-5u4e00q6 236 18 years year NNS cord-014712-5u4e00q6 236 19 . . . cord-014712-5u4e00q6 237 1 Malaysia Malaysia NNP cord-014712-5u4e00q6 237 2 remains remain VBZ cord-014712-5u4e00q6 237 3 committed committed JJ cord-014712-5u4e00q6 237 4 to to TO cord-014712-5u4e00q6 237 5 provide provide VB cord-014712-5u4e00q6 237 6 better well JJR cord-014712-5u4e00q6 237 7 diagnostic diagnostic JJ cord-014712-5u4e00q6 237 8 services service NNS cord-014712-5u4e00q6 237 9 and and CC cord-014712-5u4e00q6 237 10 improved improved JJ cord-014712-5u4e00q6 237 11 care care NN cord-014712-5u4e00q6 237 12 of of IN cord-014712-5u4e00q6 237 13 the the DT cord-014712-5u4e00q6 237 14 PID PID NNP cord-014712-5u4e00q6 237 15 patients patient NNS cord-014712-5u4e00q6 237 16 through through IN cord-014712-5u4e00q6 237 17 research research NN cord-014712-5u4e00q6 237 18 collaboration collaboration NN cord-014712-5u4e00q6 237 19 with with IN cord-014712-5u4e00q6 237 20 foreign foreign JJ cord-014712-5u4e00q6 237 21 partners partner NNS cord-014712-5u4e00q6 237 22 with with IN cord-014712-5u4e00q6 237 23 a a DT cord-014712-5u4e00q6 237 24 drive drive NN cord-014712-5u4e00q6 237 25 for for IN cord-014712-5u4e00q6 237 26 creating create VBG cord-014712-5u4e00q6 237 27 subspecialty subspecialty JJ cord-014712-5u4e00q6 237 28 training training NN cord-014712-5u4e00q6 237 29 . . . cord-014712-5u4e00q6 238 1 Patient patient JJ cord-014712-5u4e00q6 238 2 groups group NNS cord-014712-5u4e00q6 238 3 aligned align VBN cord-014712-5u4e00q6 238 4 to to IN cord-014712-5u4e00q6 238 5 IPOPI IPOPI NNP cord-014712-5u4e00q6 238 6 is be VBZ cord-014712-5u4e00q6 238 7 now now RB cord-014712-5u4e00q6 238 8 closer close JJR cord-014712-5u4e00q6 238 9 to to IN cord-014712-5u4e00q6 238 10 its -PRON- PRP$ cord-014712-5u4e00q6 238 11 formation formation NN cord-014712-5u4e00q6 238 12 with with IN cord-014712-5u4e00q6 238 13 the the DT cord-014712-5u4e00q6 238 14 creation creation NN cord-014712-5u4e00q6 238 15 of of IN cord-014712-5u4e00q6 238 16 its -PRON- PRP$ cord-014712-5u4e00q6 238 17 protem protem NNP cord-014712-5u4e00q6 238 18 committee committee NNP cord-014712-5u4e00q6 238 19 ensuring ensure VBG cord-014712-5u4e00q6 238 20 that that IN cord-014712-5u4e00q6 238 21 patients patient NNS cord-014712-5u4e00q6 238 22 ' ' POS cord-014712-5u4e00q6 238 23 interest interest NN cord-014712-5u4e00q6 238 24 will will MD cord-014712-5u4e00q6 238 25 always always RB cord-014712-5u4e00q6 238 26 be be VB cord-014712-5u4e00q6 238 27 guarded guard VBN cord-014712-5u4e00q6 238 28 Aknowledgement Aknowledgement NNP cord-014712-5u4e00q6 238 29 . . . cord-014712-5u4e00q6 239 1 The the DT cord-014712-5u4e00q6 239 2 authors author NNS cord-014712-5u4e00q6 239 3 thank thank VBP cord-014712-5u4e00q6 239 4 all all DT cord-014712-5u4e00q6 239 5 who who WP cord-014712-5u4e00q6 239 6 had have VBD cord-014712-5u4e00q6 239 7 contributed contribute VBN cord-014712-5u4e00q6 239 8 directly directly RB cord-014712-5u4e00q6 239 9 or or CC cord-014712-5u4e00q6 239 10 indirectly indirectly RB cord-014712-5u4e00q6 239 11 , , , cord-014712-5u4e00q6 239 12 especially especially RB cord-014712-5u4e00q6 239 13 medical medical JJ cord-014712-5u4e00q6 239 14 officers officer NNS cord-014712-5u4e00q6 239 15 , , , cord-014712-5u4e00q6 239 16 nurses nurse NNS cord-014712-5u4e00q6 239 17 , , , cord-014712-5u4e00q6 239 18 consultant consultant NN cord-014712-5u4e00q6 239 19 pediatricians pediatrician NNS cord-014712-5u4e00q6 239 20 especially especially RB cord-014712-5u4e00q6 240 1 Dr Dr NNP cord-014712-5u4e00q6 240 2 Kamarul Kamarul NNP cord-014712-5u4e00q6 240 3 Azhar Azhar NNP cord-014712-5u4e00q6 240 4 , , , cord-014712-5u4e00q6 240 5 Institut Institut NNP cord-014712-5u4e00q6 240 6 of of IN cord-014712-5u4e00q6 240 7 Pediatrics Pediatrics NNP cord-014712-5u4e00q6 240 8 HKL HKL NNP cord-014712-5u4e00q6 240 9 , , , cord-014712-5u4e00q6 240 10 laboratory laboratory NN cord-014712-5u4e00q6 240 11 scientists scientist NNS cord-014712-5u4e00q6 240 12 especially especially RB cord-014712-5u4e00q6 240 13 Dr Dr NNP cord-014712-5u4e00q6 240 14 Shanaz Shanaz NNP cord-014712-5u4e00q6 240 15 Murad Murad NNP cord-014712-5u4e00q6 240 16 of of IN cord-014712-5u4e00q6 240 17 the the DT cord-014712-5u4e00q6 240 18 IMR IMR NNP cord-014712-5u4e00q6 240 19 Kuala Kuala NNP cord-014712-5u4e00q6 240 20 Lumpur Lumpur NNP cord-014712-5u4e00q6 240 21 University University NNP cord-014712-5u4e00q6 240 22 of of IN cord-014712-5u4e00q6 240 23 Manchester Manchester NNP cord-014712-5u4e00q6 240 24 , , , cord-014712-5u4e00q6 240 25 UK UK NNP cord-014712-5u4e00q6 241 1 Although although IN cord-014712-5u4e00q6 241 2 the the DT cord-014712-5u4e00q6 241 3 concept concept NN cord-014712-5u4e00q6 241 4 of of IN cord-014712-5u4e00q6 241 5 grouping group VBG cord-014712-5u4e00q6 241 6 Mendelian mendelian JJ cord-014712-5u4e00q6 241 7 disorders disorder NNS cord-014712-5u4e00q6 241 8 associated associate VBN cord-014712-5u4e00q6 241 9 with with IN cord-014712-5u4e00q6 241 10 an an DT cord-014712-5u4e00q6 241 11 upregulation upregulation NN cord-014712-5u4e00q6 241 12 of of IN cord-014712-5u4e00q6 241 13 type type NN cord-014712-5u4e00q6 242 1 I -PRON- PRP cord-014712-5u4e00q6 243 1 interferon interferon NNP cord-014712-5u4e00q6 243 2 ( ( -LRB- cord-014712-5u4e00q6 243 3 IFN IFN NNP cord-014712-5u4e00q6 243 4 ) ) -RRB- cord-014712-5u4e00q6 243 5 has have VBZ cord-014712-5u4e00q6 243 6 not not RB cord-014712-5u4e00q6 243 7 been be VBN cord-014712-5u4e00q6 243 8 previously previously RB cord-014712-5u4e00q6 243 9 recognised recognise VBN cord-014712-5u4e00q6 243 10 in in IN cord-014712-5u4e00q6 243 11 the the DT cord-014712-5u4e00q6 243 12 medical medical JJ cord-014712-5u4e00q6 243 13 literature literature NN cord-014712-5u4e00q6 243 14 , , , cord-014712-5u4e00q6 243 15 our -PRON- PRP$ cord-014712-5u4e00q6 243 16 past past JJ cord-014712-5u4e00q6 243 17 and and CC cord-014712-5u4e00q6 243 18 current current JJ cord-014712-5u4e00q6 243 19 work work NN cord-014712-5u4e00q6 243 20 argues argue VBZ cord-014712-5u4e00q6 243 21 that that IN cord-014712-5u4e00q6 243 22 this this DT cord-014712-5u4e00q6 243 23 concept concept NN cord-014712-5u4e00q6 243 24 has have VBZ cord-014712-5u4e00q6 243 25 scientific scientific JJ cord-014712-5u4e00q6 243 26 validity validity NN cord-014712-5u4e00q6 243 27 and and CC cord-014712-5u4e00q6 243 28 clinical clinical JJ cord-014712-5u4e00q6 243 29 utility utility NN cord-014712-5u4e00q6 243 30 . . . cord-014712-5u4e00q6 244 1 I -PRON- PRP cord-014712-5u4e00q6 244 2 will will MD cord-014712-5u4e00q6 244 3 discuss discuss VB cord-014712-5u4e00q6 244 4 the the DT cord-014712-5u4e00q6 244 5 possibility possibility NN cord-014712-5u4e00q6 244 6 that that IN cord-014712-5u4e00q6 244 7 such such JJ cord-014712-5u4e00q6 244 8 conditions condition NNS cord-014712-5u4e00q6 244 9 can can MD cord-014712-5u4e00q6 244 10 usefully usefully RB cord-014712-5u4e00q6 244 11 be be VB cord-014712-5u4e00q6 244 12 considered consider VBN cord-014712-5u4e00q6 244 13 to to TO cord-014712-5u4e00q6 244 14 represent represent VB cord-014712-5u4e00q6 244 15 a a DT cord-014712-5u4e00q6 244 16 novel novel JJ cord-014712-5u4e00q6 244 17 set set NN cord-014712-5u4e00q6 244 18 of of IN cord-014712-5u4e00q6 244 19 inborn inborn JJ cord-014712-5u4e00q6 244 20 errors error NNS cord-014712-5u4e00q6 244 21 of of IN cord-014712-5u4e00q6 244 22 immunity immunity NN cord-014712-5u4e00q6 244 23 , , , cord-014712-5u4e00q6 244 24 and and CC cord-014712-5u4e00q6 244 25 that that IN cord-014712-5u4e00q6 244 26 the the DT cord-014712-5u4e00q6 244 27 recognition recognition NN cord-014712-5u4e00q6 244 28 of of IN cord-014712-5u4e00q6 244 29 diseases disease NNS cord-014712-5u4e00q6 244 30 as as IN cord-014712-5u4e00q6 244 31 type type NN cord-014712-5u4e00q6 244 32 I -PRON- PRP cord-014712-5u4e00q6 244 33 interferonopathies interferonopathie NNS cord-014712-5u4e00q6 244 34 will will MD cord-014712-5u4e00q6 244 35 have have VB cord-014712-5u4e00q6 244 36 significance significance NN cord-014712-5u4e00q6 244 37 for for IN cord-014712-5u4e00q6 244 38 the the DT cord-014712-5u4e00q6 244 39 development development NN cord-014712-5u4e00q6 244 40 of of IN cord-014712-5u4e00q6 244 41 targeted target VBN cord-014712-5u4e00q6 244 42 therapies therapy NNS cord-014712-5u4e00q6 244 43 , , , cord-014712-5u4e00q6 244 44 as as RB cord-014712-5u4e00q6 244 45 well well RB cord-014712-5u4e00q6 244 46 as as IN cord-014712-5u4e00q6 244 47 informing inform VBG cord-014712-5u4e00q6 244 48 our -PRON- PRP$ cord-014712-5u4e00q6 244 49 understanding understanding NN cord-014712-5u4e00q6 244 50 of of IN cord-014712-5u4e00q6 244 51 viral viral JJ cord-014712-5u4e00q6 244 52 and and CC cord-014712-5u4e00q6 244 53 retroelement retroelement JJ cord-014712-5u4e00q6 244 54 biology biology NN cord-014712-5u4e00q6 244 55 , , , cord-014712-5u4e00q6 244 56 and and CC cord-014712-5u4e00q6 244 57 the the DT cord-014712-5u4e00q6 244 58 pathogenesis pathogenesis NN cord-014712-5u4e00q6 244 59 of of IN cord-014712-5u4e00q6 244 60 some some DT cord-014712-5u4e00q6 244 61 forms form NNS cord-014712-5u4e00q6 244 62 of of IN cord-014712-5u4e00q6 244 63 autoimmunity autoimmunity NN cord-014712-5u4e00q6 244 64 . . . cord-014712-5u4e00q6 245 1 1 1 CD cord-014712-5u4e00q6 245 2 Classic Classic NNP cord-014712-5u4e00q6 245 3 Kaposi Kaposi NNP cord-014712-5u4e00q6 245 4 sarcoma sarcoma NN cord-014712-5u4e00q6 245 5 ( ( -LRB- cord-014712-5u4e00q6 245 6 KS KS NNP cord-014712-5u4e00q6 245 7 ) ) -RRB- cord-014712-5u4e00q6 245 8 is be VBZ cord-014712-5u4e00q6 245 9 exceedingly exceedingly RB cord-014712-5u4e00q6 245 10 rare rare JJ cord-014712-5u4e00q6 245 11 in in IN cord-014712-5u4e00q6 245 12 children child NNS cord-014712-5u4e00q6 245 13 from from IN cord-014712-5u4e00q6 245 14 the the DT cord-014712-5u4e00q6 245 15 Mediterranean Mediterranean NNP cord-014712-5u4e00q6 245 16 Basin Basin NNP cord-014712-5u4e00q6 245 17 , , , cord-014712-5u4e00q6 245 18 despite despite IN cord-014712-5u4e00q6 245 19 the the DT cord-014712-5u4e00q6 245 20 high high JJ cord-014712-5u4e00q6 245 21 prevalence prevalence NN cord-014712-5u4e00q6 245 22 of of IN cord-014712-5u4e00q6 245 23 HHV-8 HHV-8 NNP cord-014712-5u4e00q6 245 24 infection infection NN cord-014712-5u4e00q6 245 25 in in IN cord-014712-5u4e00q6 245 26 this this DT cord-014712-5u4e00q6 245 27 region region NN cord-014712-5u4e00q6 245 28 . . . cord-014712-5u4e00q6 246 1 We -PRON- PRP cord-014712-5u4e00q6 246 2 hypothesized hypothesize VBD cord-014712-5u4e00q6 246 3 that that IN cord-014712-5u4e00q6 246 4 rare rare JJ cord-014712-5u4e00q6 246 5 single single JJ cord-014712-5u4e00q6 246 6 - - HYPH cord-014712-5u4e00q6 246 7 gene gene NN cord-014712-5u4e00q6 246 8 inborn inborn JJ cord-014712-5u4e00q6 246 9 errors error NNS cord-014712-5u4e00q6 246 10 of of IN cord-014712-5u4e00q6 246 11 immunity immunity NN cord-014712-5u4e00q6 246 12 to to IN cord-014712-5u4e00q6 246 13 HHV-8 HHV-8 NNP cord-014712-5u4e00q6 246 14 might may MD cord-014712-5u4e00q6 246 15 underlie underlie VB cord-014712-5u4e00q6 246 16 classic classic JJ cord-014712-5u4e00q6 246 17 KS KS NNP cord-014712-5u4e00q6 246 18 in in IN cord-014712-5u4e00q6 246 19 childhood childhood NN cord-014712-5u4e00q6 246 20 . . . cord-014712-5u4e00q6 247 1 We -PRON- PRP cord-014712-5u4e00q6 247 2 report report VBP cord-014712-5u4e00q6 247 3 here here RB cord-014712-5u4e00q6 247 4 autosomal autosomal JJ cord-014712-5u4e00q6 247 5 recessive recessive JJ cord-014712-5u4e00q6 247 6 OX40 OX40 NNP cord-014712-5u4e00q6 247 7 deficiency deficiency NN cord-014712-5u4e00q6 247 8 in in IN cord-014712-5u4e00q6 247 9 an an DT cord-014712-5u4e00q6 247 10 otherwise otherwise RB cord-014712-5u4e00q6 247 11 healthy healthy JJ cord-014712-5u4e00q6 247 12 adult adult NN cord-014712-5u4e00q6 247 13 with with IN cord-014712-5u4e00q6 247 14 childhood childhood NN cord-014712-5u4e00q6 247 15 - - HYPH cord-014712-5u4e00q6 247 16 onset onset NN cord-014712-5u4e00q6 247 17 classic classic JJ cord-014712-5u4e00q6 247 18 KS KS NNP cord-014712-5u4e00q6 247 19 . . . cord-014712-5u4e00q6 248 1 OX40 OX40 NNP cord-014712-5u4e00q6 248 2 is be VBZ cord-014712-5u4e00q6 248 3 a a DT cord-014712-5u4e00q6 248 4 costimulatory costimulatory NNP cord-014712-5u4e00q6 248 5 receptor receptor NN cord-014712-5u4e00q6 248 6 expressed express VBN cord-014712-5u4e00q6 248 7 on on IN cord-014712-5u4e00q6 248 8 activated activate VBN cord-014712-5u4e00q6 248 9 T t NN cord-014712-5u4e00q6 248 10 cells cell NNS cord-014712-5u4e00q6 248 11 . . . cord-014712-5u4e00q6 249 1 Its -PRON- PRP$ cord-014712-5u4e00q6 249 2 ligand ligand NN cord-014712-5u4e00q6 249 3 is be VBZ cord-014712-5u4e00q6 249 4 expressed express VBN cord-014712-5u4e00q6 249 5 on on IN cord-014712-5u4e00q6 249 6 various various JJ cord-014712-5u4e00q6 249 7 cell cell NN cord-014712-5u4e00q6 249 8 types type NNS cord-014712-5u4e00q6 249 9 , , , cord-014712-5u4e00q6 249 10 including include VBG cord-014712-5u4e00q6 249 11 endothelial endothelial JJ cord-014712-5u4e00q6 249 12 cells cell NNS cord-014712-5u4e00q6 249 13 . . . cord-014712-5u4e00q6 250 1 The the DT cord-014712-5u4e00q6 250 2 mutant mutant JJ cord-014712-5u4e00q6 250 3 OX40 OX40 NNP cord-014712-5u4e00q6 250 4 protein protein NN cord-014712-5u4e00q6 250 5 was be VBD cord-014712-5u4e00q6 250 6 poorly poorly RB cord-014712-5u4e00q6 250 7 expressed express VBN cord-014712-5u4e00q6 250 8 on on IN cord-014712-5u4e00q6 250 9 the the DT cord-014712-5u4e00q6 250 10 cell cell NN cord-014712-5u4e00q6 250 11 surface surface NN cord-014712-5u4e00q6 250 12 and and CC cord-014712-5u4e00q6 250 13 failed fail VBD cord-014712-5u4e00q6 250 14 to to TO cord-014712-5u4e00q6 250 15 bind bind VB cord-014712-5u4e00q6 250 16 OX40 OX40 NNP cord-014712-5u4e00q6 250 17 ligand ligand NN cord-014712-5u4e00q6 250 18 , , , cord-014712-5u4e00q6 250 19 resulting result VBG cord-014712-5u4e00q6 250 20 in in IN cord-014712-5u4e00q6 250 21 complete complete JJ cord-014712-5u4e00q6 250 22 functional functional JJ cord-014712-5u4e00q6 250 23 OX40 OX40 NNP cord-014712-5u4e00q6 250 24 deficiency deficiency NN cord-014712-5u4e00q6 250 25 . . . cord-014712-5u4e00q6 251 1 The the DT cord-014712-5u4e00q6 251 2 OX40-deficient ox40-deficient CD cord-014712-5u4e00q6 251 3 patient patient NN cord-014712-5u4e00q6 251 4 had have VBD cord-014712-5u4e00q6 251 5 a a DT cord-014712-5u4e00q6 251 6 low low JJ cord-014712-5u4e00q6 251 7 proportion proportion NN cord-014712-5u4e00q6 251 8 of of IN cord-014712-5u4e00q6 251 9 effector effector JJ cord-014712-5u4e00q6 251 10 memory memory NN cord-014712-5u4e00q6 251 11 CD4 CD4 NNP cord-014712-5u4e00q6 251 12 + + CC cord-014712-5u4e00q6 251 13 T t NN cord-014712-5u4e00q6 251 14 cells cell NNS cord-014712-5u4e00q6 251 15 in in IN cord-014712-5u4e00q6 251 16 the the DT cord-014712-5u4e00q6 251 17 peripheral peripheral JJ cord-014712-5u4e00q6 251 18 blood blood NN cord-014712-5u4e00q6 251 19 , , , cord-014712-5u4e00q6 251 20 consistent consistent JJ cord-014712-5u4e00q6 251 21 with with IN cord-014712-5u4e00q6 251 22 impaired impaired JJ cord-014712-5u4e00q6 251 23 CD4 CD4 NNP cord-014712-5u4e00q6 251 24 + + CC cord-014712-5u4e00q6 251 25 T t NN cord-014712-5u4e00q6 251 26 - - HYPH cord-014712-5u4e00q6 251 27 cell cell NN cord-014712-5u4e00q6 251 28 responses response NNS cord-014712-5u4e00q6 251 29 to to TO cord-014712-5u4e00q6 251 30 recall recall VB cord-014712-5u4e00q6 251 31 antigens antigen NNS cord-014712-5u4e00q6 251 32 in in IN cord-014712-5u4e00q6 251 33 vitro vitro FW cord-014712-5u4e00q6 251 34 . . . cord-014712-5u4e00q6 252 1 The the DT cord-014712-5u4e00q6 252 2 proportion proportion NN cord-014712-5u4e00q6 252 3 of of IN cord-014712-5u4e00q6 252 4 effector effector JJ cord-014712-5u4e00q6 252 5 memory memory NN cord-014712-5u4e00q6 252 6 CD8 CD8 NNP cord-014712-5u4e00q6 252 7 + + CC cord-014712-5u4e00q6 252 8 T T NNP cord-014712-5u4e00q6 252 9 cells cell NNS cord-014712-5u4e00q6 252 10 was be VBD cord-014712-5u4e00q6 252 11 less less RBR cord-014712-5u4e00q6 252 12 diminished diminished JJ cord-014712-5u4e00q6 252 13 . . . cord-014712-5u4e00q6 253 1 The the DT cord-014712-5u4e00q6 253 2 proportion proportion NN cord-014712-5u4e00q6 253 3 of of IN cord-014712-5u4e00q6 253 4 circulating circulate VBG cord-014712-5u4e00q6 253 5 memory memory NN cord-014712-5u4e00q6 253 6 B b NN cord-014712-5u4e00q6 253 7 cells cell NNS cord-014712-5u4e00q6 253 8 was be VBD cord-014712-5u4e00q6 253 9 low low JJ cord-014712-5u4e00q6 253 10 , , , cord-014712-5u4e00q6 253 11 but but CC cord-014712-5u4e00q6 253 12 the the DT cord-014712-5u4e00q6 253 13 antibody antibody NN cord-014712-5u4e00q6 253 14 response response NN cord-014712-5u4e00q6 253 15 in in IN cord-014712-5u4e00q6 253 16 vivo vivo NN cord-014712-5u4e00q6 253 17 was be VBD cord-014712-5u4e00q6 253 18 intact intact JJ cord-014712-5u4e00q6 253 19 , , , cord-014712-5u4e00q6 253 20 including include VBG cord-014712-5u4e00q6 253 21 to to IN cord-014712-5u4e00q6 253 22 a a DT cord-014712-5u4e00q6 253 23 vaccine vaccine NN cord-014712-5u4e00q6 253 24 boost boost NN cord-014712-5u4e00q6 253 25 . . . cord-014712-5u4e00q6 254 1 Together together RB cord-014712-5u4e00q6 254 2 , , , cord-014712-5u4e00q6 254 3 these these DT cord-014712-5u4e00q6 254 4 findings finding NNS cord-014712-5u4e00q6 254 5 suggest suggest VBP cord-014712-5u4e00q6 254 6 that that IN cord-014712-5u4e00q6 254 7 human human JJ cord-014712-5u4e00q6 254 8 OX40 OX40 NNP cord-014712-5u4e00q6 254 9 is be VBZ cord-014712-5u4e00q6 254 10 important important JJ cord-014712-5u4e00q6 254 11 for for IN cord-014712-5u4e00q6 254 12 CD4 CD4 NNP cord-014712-5u4e00q6 254 13 + + CC cord-014712-5u4e00q6 254 14 T t NN cord-014712-5u4e00q6 254 15 - - HYPH cord-014712-5u4e00q6 254 16 cell cell NN cord-014712-5u4e00q6 254 17 memory memory NN cord-014712-5u4e00q6 254 18 , , , cord-014712-5u4e00q6 254 19 but but CC cord-014712-5u4e00q6 254 20 redundant redundant JJ cord-014712-5u4e00q6 254 21 for for IN cord-014712-5u4e00q6 254 22 immunity immunity NN cord-014712-5u4e00q6 254 23 to to IN cord-014712-5u4e00q6 254 24 most most JJS cord-014712-5u4e00q6 254 25 common common JJ cord-014712-5u4e00q6 254 26 pathogens pathogen NNS cord-014712-5u4e00q6 254 27 , , , cord-014712-5u4e00q6 254 28 with with IN cord-014712-5u4e00q6 254 29 the the DT cord-014712-5u4e00q6 254 30 notable notable JJ cord-014712-5u4e00q6 254 31 and and CC cord-014712-5u4e00q6 254 32 surprising surprising JJ cord-014712-5u4e00q6 254 33 exception exception NN cord-014712-5u4e00q6 254 34 of of IN cord-014712-5u4e00q6 254 35 HHV-8 HHV-8 NNP cord-014712-5u4e00q6 254 36 . . . cord-014712-5u4e00q6 255 1 The the DT cord-014712-5u4e00q6 255 2 chronic chronic JJ cord-014712-5u4e00q6 255 3 mucocutaneous mucocutaneous JJ cord-014712-5u4e00q6 255 4 candidiasis candidiasis NN cord-014712-5u4e00q6 255 5 disease disease NN cord-014712-5u4e00q6 255 6 ( ( -LRB- cord-014712-5u4e00q6 255 7 CMCD CMCD NNP cord-014712-5u4e00q6 255 8 ) ) -RRB- cord-014712-5u4e00q6 255 9 is be VBZ cord-014712-5u4e00q6 255 10 characterized characterize VBN cord-014712-5u4e00q6 255 11 by by IN cord-014712-5u4e00q6 255 12 persistent persistent JJ cord-014712-5u4e00q6 255 13 or or CC cord-014712-5u4e00q6 255 14 recurrent recurrent JJ cord-014712-5u4e00q6 255 15 infection infection NN cord-014712-5u4e00q6 255 16 of of IN cord-014712-5u4e00q6 255 17 skin skin NN cord-014712-5u4e00q6 255 18 , , , cord-014712-5u4e00q6 255 19 nails nail NNS cord-014712-5u4e00q6 255 20 , , , cord-014712-5u4e00q6 255 21 oral oral JJ cord-014712-5u4e00q6 255 22 , , , cord-014712-5u4e00q6 255 23 or or CC cord-014712-5u4e00q6 255 24 genital genital JJ cord-014712-5u4e00q6 255 25 mucosae mucosae XX cord-014712-5u4e00q6 255 26 with with IN cord-014712-5u4e00q6 255 27 Candida Candida NNP cord-014712-5u4e00q6 255 28 albicans albican NNS cord-014712-5u4e00q6 255 29 . . . cord-014712-5u4e00q6 256 1 IL-17-mediated il-17-mediated JJ cord-014712-5u4e00q6 256 2 immunity immunity NN cord-014712-5u4e00q6 256 3 has have VBZ cord-014712-5u4e00q6 256 4 been be VBN cord-014712-5u4e00q6 256 5 concerned concern VBN cord-014712-5u4e00q6 256 6 in in IN cord-014712-5u4e00q6 256 7 host host NN cord-014712-5u4e00q6 256 8 defense defense NN cord-014712-5u4e00q6 256 9 against against IN cord-014712-5u4e00q6 256 10 Candida Candida NNP cord-014712-5u4e00q6 256 11 on on IN cord-014712-5u4e00q6 256 12 body body NN cord-014712-5u4e00q6 256 13 surfaces surface NNS cord-014712-5u4e00q6 256 14 . . . cord-014712-5u4e00q6 257 1 We -PRON- PRP cord-014712-5u4e00q6 257 2 have have VBP cord-014712-5u4e00q6 257 3 investigated investigate VBN cord-014712-5u4e00q6 257 4 nine nine CD cord-014712-5u4e00q6 257 5 patients patient NNS cord-014712-5u4e00q6 257 6 with with IN cord-014712-5u4e00q6 257 7 chronic chronic JJ cord-014712-5u4e00q6 257 8 mucocutaneous mucocutaneous JJ cord-014712-5u4e00q6 257 9 candidiasis candidiasis NN cord-014712-5u4e00q6 257 10 disease disease NN cord-014712-5u4e00q6 257 11 ( ( -LRB- cord-014712-5u4e00q6 257 12 CMCD CMCD NNP cord-014712-5u4e00q6 257 13 ) ) -RRB- cord-014712-5u4e00q6 257 14 and and CC cord-014712-5u4e00q6 257 15 signal signal NN cord-014712-5u4e00q6 257 16 transducer transducer NN cord-014712-5u4e00q6 257 17 and and CC cord-014712-5u4e00q6 257 18 activators activator NNS cord-014712-5u4e00q6 257 19 of of IN cord-014712-5u4e00q6 257 20 transcription transcription NN cord-014712-5u4e00q6 257 21 1 1 CD cord-014712-5u4e00q6 257 22 ( ( -LRB- cord-014712-5u4e00q6 257 23 STAT1 stat1 NN cord-014712-5u4e00q6 257 24 ) ) -RRB- cord-014712-5u4e00q6 257 25 mutations mutation NNS cord-014712-5u4e00q6 257 26 . . . cord-014712-5u4e00q6 258 1 The the DT cord-014712-5u4e00q6 258 2 novel novel NN cord-014712-5u4e00q6 258 3 c.537C c.537C NNP cord-014712-5u4e00q6 258 4 > > XX cord-014712-5u4e00q6 259 1 A a DT cord-014712-5u4e00q6 259 2 ( ( -LRB- cord-014712-5u4e00q6 259 3 N179 N179 NNP cord-014712-5u4e00q6 259 4 K K NNP cord-014712-5u4e00q6 259 5 ) ) -RRB- cord-014712-5u4e00q6 259 6 and and CC cord-014712-5u4e00q6 259 7 c.854A c.854A NNP cord-014712-5u4e00q6 260 1 > > XX cord-014712-5u4e00q6 261 1 G G NNP cord-014712-5u4e00q6 261 2 ( ( -LRB- cord-014712-5u4e00q6 261 3 Q285R Q285R NNP cord-014712-5u4e00q6 261 4 ) ) -RRB- cord-014712-5u4e00q6 261 5 mutations mutation NNS cord-014712-5u4e00q6 261 6 in in IN cord-014712-5u4e00q6 261 7 the the DT cord-014712-5u4e00q6 261 8 coiled coil VBN cord-014712-5u4e00q6 261 9 - - HYPH cord-014712-5u4e00q6 261 10 coil coil NN cord-014712-5u4e00q6 261 11 domain domain NN cord-014712-5u4e00q6 261 12 ( ( -LRB- cord-014712-5u4e00q6 261 13 CCD CCD NNP cord-014712-5u4e00q6 261 14 ) ) -RRB- cord-014712-5u4e00q6 261 15 and and CC cord-014712-5u4e00q6 262 1 the the DT cord-014712-5u4e00q6 262 2 c.1154C c.1154C NNP cord-014712-5u4e00q6 262 3 > > XX cord-014712-5u4e00q6 262 4 T t NN cord-014712-5u4e00q6 262 5 ( ( -LRB- cord-014712-5u4e00q6 262 6 T385 T385 NNP cord-014712-5u4e00q6 262 7 M m CD cord-014712-5u4e00q6 262 8 ) ) -RRB- cord-014712-5u4e00q6 262 9 mutation mutation NN cord-014712-5u4e00q6 262 10 in in IN cord-014712-5u4e00q6 262 11 the the DT cord-014712-5u4e00q6 262 12 DNA dna NN cord-014712-5u4e00q6 262 13 - - HYPH cord-014712-5u4e00q6 262 14 binding bind VBG cord-014712-5u4e00q6 262 15 domain domain NN cord-014712-5u4e00q6 262 16 ( ( -LRB- cord-014712-5u4e00q6 262 17 DBD DBD NNP cord-014712-5u4e00q6 262 18 ) ) -RRB- cord-014712-5u4e00q6 262 19 of of IN cord-014712-5u4e00q6 262 20 STAT1 stat1 NN cord-014712-5u4e00q6 262 21 are be VBP cord-014712-5u4e00q6 262 22 gain gain NN cord-014712-5u4e00q6 262 23 - - HYPH cord-014712-5u4e00q6 262 24 of of IN cord-014712-5u4e00q6 262 25 - - HYPH cord-014712-5u4e00q6 262 26 function function NN cord-014712-5u4e00q6 262 27 ( ( -LRB- cord-014712-5u4e00q6 262 28 GOF GOF NNP cord-014712-5u4e00q6 262 29 ) ) -RRB- cord-014712-5u4e00q6 262 30 for for IN cord-014712-5u4e00q6 262 31 γ γ NN cord-014712-5u4e00q6 262 32 - - HYPH cord-014712-5u4e00q6 262 33 activated activate VBN cord-014712-5u4e00q6 262 34 factor factor NN cord-014712-5u4e00q6 262 35 ( ( -LRB- cord-014712-5u4e00q6 262 36 GAF)-dependent GAF)-dependent VBG cord-014712-5u4e00q6 262 37 cellular cellular JJ cord-014712-5u4e00q6 262 38 responses response NNS cord-014712-5u4e00q6 262 39 to to TO cord-014712-5u4e00q6 262 40 STAT1 stat1 VB cord-014712-5u4e00q6 262 41 . . . cord-014712-5u4e00q6 263 1 Low low JJ cord-014712-5u4e00q6 263 2 proportion proportion NN cord-014712-5u4e00q6 263 3 of of IN cord-014712-5u4e00q6 263 4 IL-17A il-17a NN cord-014712-5u4e00q6 263 5 - - , cord-014712-5u4e00q6 263 6 and and CC cord-014712-5u4e00q6 263 7 IL-22-producing IL-22-producing NNP cord-014712-5u4e00q6 263 8 T T NNP cord-014712-5u4e00q6 263 9 cells cell NNS cord-014712-5u4e00q6 263 10 , , , cord-014712-5u4e00q6 263 11 lower low JJR cord-014712-5u4e00q6 263 12 levels level NNS cord-014712-5u4e00q6 263 13 of of IN cord-014712-5u4e00q6 263 14 intracellular intracellular JJ cord-014712-5u4e00q6 263 15 IL-17A IL-17A NNP cord-014712-5u4e00q6 263 16 and and CC cord-014712-5u4e00q6 263 17 IL-22 IL-22 NNP cord-014712-5u4e00q6 263 18 by by IN cord-014712-5u4e00q6 263 19 T T NNP cord-014712-5u4e00q6 263 20 cells cell NNS cord-014712-5u4e00q6 263 21 and and CC cord-014712-5u4e00q6 263 22 impaired impair VBN cord-014712-5u4e00q6 263 23 Candidainduced Candidainduced NNP cord-014712-5u4e00q6 263 24 secretion secretion NN cord-014712-5u4e00q6 263 25 of of IN cord-014712-5u4e00q6 263 26 IL-17A IL-17A NNP cord-014712-5u4e00q6 263 27 and and CC cord-014712-5u4e00q6 263 28 IL-22 IL-22 NNP cord-014712-5u4e00q6 263 29 by by IN cord-014712-5u4e00q6 263 30 leukocytes leukocyte NNS cord-014712-5u4e00q6 263 31 from from IN cord-014712-5u4e00q6 263 32 CMC CMC NNP cord-014712-5u4e00q6 263 33 patients patient NNS cord-014712-5u4e00q6 263 34 compared compare VBN cord-014712-5u4e00q6 263 35 to to IN cord-014712-5u4e00q6 263 36 that that DT cord-014712-5u4e00q6 263 37 in in IN cord-014712-5u4e00q6 263 38 healthy healthy JJ cord-014712-5u4e00q6 263 39 controls control NNS cord-014712-5u4e00q6 263 40 were be VBD cord-014712-5u4e00q6 263 41 found find VBN cord-014712-5u4e00q6 263 42 . . . cord-014712-5u4e00q6 264 1 The the DT cord-014712-5u4e00q6 264 2 c.820C c.820C NNP cord-014712-5u4e00q6 265 1 > > XX cord-014712-5u4e00q6 266 1 T T NNP cord-014712-5u4e00q6 266 2 ( ( -LRB- cord-014712-5u4e00q6 266 3 R274W r274w NN cord-014712-5u4e00q6 266 4 ) ) -RRB- cord-014712-5u4e00q6 266 5 mutation mutation NN cord-014712-5u4e00q6 266 6 affecting affect VBG cord-014712-5u4e00q6 266 7 the the DT cord-014712-5u4e00q6 266 8 CCD ccd NN cord-014712-5u4e00q6 266 9 and and CC cord-014712-5u4e00q6 266 10 the the DT cord-014712-5u4e00q6 266 11 c.1154C c.1154c NN cord-014712-5u4e00q6 266 12 > > XX cord-014712-5u4e00q6 266 13 T t NN cord-014712-5u4e00q6 266 14 ( ( -LRB- cord-014712-5u4e00q6 266 15 T385 T385 NNP cord-014712-5u4e00q6 266 16 M m CD cord-014712-5u4e00q6 266 17 ) ) -RRB- cord-014712-5u4e00q6 266 18 mutation mutation NN cord-014712-5u4e00q6 266 19 affecting affect VBG cord-014712-5u4e00q6 266 20 the the DT cord-014712-5u4e00q6 266 21 DBD DBD NNP cord-014712-5u4e00q6 266 22 of of IN cord-014712-5u4e00q6 266 23 STAT1 stat1 NN cord-014712-5u4e00q6 266 24 and and CC cord-014712-5u4e00q6 266 25 resulted result VBD cord-014712-5u4e00q6 266 26 in in IN cord-014712-5u4e00q6 266 27 gain gain NN cord-014712-5u4e00q6 266 28 - - HYPH cord-014712-5u4e00q6 266 29 ofphosphorylation ofphosphorylation NN cord-014712-5u4e00q6 266 30 and and CC cord-014712-5u4e00q6 266 31 GOF GOF NNP cord-014712-5u4e00q6 266 32 . . . cord-014712-5u4e00q6 267 1 These these DT cord-014712-5u4e00q6 267 2 mutant mutant JJ cord-014712-5u4e00q6 267 3 alleles allele NNS cord-014712-5u4e00q6 267 4 enhanced enhance VBD cord-014712-5u4e00q6 267 5 the the DT cord-014712-5u4e00q6 267 6 cellular cellular JJ cord-014712-5u4e00q6 267 7 responses response NNS cord-014712-5u4e00q6 267 8 to to IN cord-014712-5u4e00q6 267 9 cytokines cytokine NNS cord-014712-5u4e00q6 267 10 via via IN cord-014712-5u4e00q6 267 11 STAT1 stat1 NN cord-014712-5u4e00q6 267 12 signalling signal VBG cord-014712-5u4e00q6 267 13 pathway pathway NN cord-014712-5u4e00q6 267 14 . . . cord-014712-5u4e00q6 268 1 These these DT cord-014712-5u4e00q6 268 2 data datum NNS cord-014712-5u4e00q6 268 3 provide provide VBP cord-014712-5u4e00q6 268 4 further further JJ cord-014712-5u4e00q6 268 5 insight insight NN cord-014712-5u4e00q6 268 6 into into IN cord-014712-5u4e00q6 268 7 the the DT cord-014712-5u4e00q6 268 8 mechanism mechanism NN cord-014712-5u4e00q6 268 9 of of IN cord-014712-5u4e00q6 268 10 host host NN cord-014712-5u4e00q6 268 11 defense defense NN cord-014712-5u4e00q6 268 12 against against IN cord-014712-5u4e00q6 268 13 Candida Candida NNP cord-014712-5u4e00q6 268 14 . . . cord-014712-5u4e00q6 269 1 Heterozygous heterozygous JJ cord-014712-5u4e00q6 269 2 gain gain NN cord-014712-5u4e00q6 269 3 - - HYPH cord-014712-5u4e00q6 269 4 of of IN cord-014712-5u4e00q6 269 5 - - HYPH cord-014712-5u4e00q6 269 6 function function NN cord-014712-5u4e00q6 269 7 STAT1 stat1 NN cord-014712-5u4e00q6 269 8 mutation mutation NN cord-014712-5u4e00q6 269 9 is be VBZ cord-014712-5u4e00q6 269 10 known know VBN cord-014712-5u4e00q6 269 11 as as IN cord-014712-5u4e00q6 269 12 a a DT cord-014712-5u4e00q6 269 13 major major JJ cord-014712-5u4e00q6 269 14 etiology etiology NN cord-014712-5u4e00q6 269 15 of of IN cord-014712-5u4e00q6 269 16 chronic chronic JJ cord-014712-5u4e00q6 269 17 mucocutaneus mucocutaneus NN cord-014712-5u4e00q6 269 18 candidiasis candidiasis NN cord-014712-5u4e00q6 269 19 . . . cord-014712-5u4e00q6 270 1 GOF GOF NNP cord-014712-5u4e00q6 270 2 mutation mutation NN cord-014712-5u4e00q6 270 3 affecting affect VBG cord-014712-5u4e00q6 270 4 the the DT cord-014712-5u4e00q6 270 5 STAT1 stat1 NN cord-014712-5u4e00q6 270 6 coiled coil VBN cord-014712-5u4e00q6 270 7 - - HYPH cord-014712-5u4e00q6 270 8 coil coil NN cord-014712-5u4e00q6 270 9 domen domen NNP cord-014712-5u4e00q6 270 10 ( ( -LRB- cord-014712-5u4e00q6 270 11 D165 D165 NNP cord-014712-5u4e00q6 270 12 G g NN cord-014712-5u4e00q6 270 13 ) ) -RRB- cord-014712-5u4e00q6 270 14 was be VBD cord-014712-5u4e00q6 270 15 initially initially RB cord-014712-5u4e00q6 270 16 discovered discover VBN cord-014712-5u4e00q6 270 17 in in IN cord-014712-5u4e00q6 270 18 13-year 13-year JJ cord-014712-5u4e00q6 270 19 boy boy NN cord-014712-5u4e00q6 270 20 with with IN cord-014712-5u4e00q6 270 21 CMC CMC NNP cord-014712-5u4e00q6 270 22 . . . cord-014712-5u4e00q6 271 1 GOF GOF NNP cord-014712-5u4e00q6 271 2 mutation mutation NN cord-014712-5u4e00q6 271 3 of of IN cord-014712-5u4e00q6 271 4 DNA dna NN cord-014712-5u4e00q6 271 5 - - HYPH cord-014712-5u4e00q6 271 6 binding bind VBG cord-014712-5u4e00q6 271 7 domen domen NN cord-014712-5u4e00q6 271 8 ( ( -LRB- cord-014712-5u4e00q6 271 9 T385 T385 NNP cord-014712-5u4e00q6 271 10 M M NNP cord-014712-5u4e00q6 271 11 ) ) -RRB- cord-014712-5u4e00q6 271 12 was be VBD cord-014712-5u4e00q6 271 13 found find VBN cord-014712-5u4e00q6 271 14 in in IN cord-014712-5u4e00q6 271 15 the the DT cord-014712-5u4e00q6 271 16 second second JJ cord-014712-5u4e00q6 271 17 our -PRON- PRP$ cord-014712-5u4e00q6 271 18 patient patient NN cord-014712-5u4e00q6 271 19 with with IN cord-014712-5u4e00q6 271 20 CMC CMC NNP cord-014712-5u4e00q6 271 21 . . . cord-014712-5u4e00q6 272 1 Both both DT cord-014712-5u4e00q6 272 2 patients patient NNS cord-014712-5u4e00q6 272 3 have have VBP cord-014712-5u4e00q6 272 4 early early JJ cord-014712-5u4e00q6 272 5 manifestation manifestation NN cord-014712-5u4e00q6 272 6 of of IN cord-014712-5u4e00q6 272 7 recurrent recurrent JJ cord-014712-5u4e00q6 272 8 or or CC cord-014712-5u4e00q6 272 9 persistent persistent JJ cord-014712-5u4e00q6 272 10 infections infection NNS cord-014712-5u4e00q6 272 11 of of IN cord-014712-5u4e00q6 272 12 the the DT cord-014712-5u4e00q6 272 13 skin skin NN cord-014712-5u4e00q6 272 14 , , , cord-014712-5u4e00q6 272 15 mucous mucous JJ cord-014712-5u4e00q6 272 16 membranes membrane NNS cord-014712-5u4e00q6 272 17 , , , cord-014712-5u4e00q6 272 18 and and CC cord-014712-5u4e00q6 272 19 nails nail NNS cord-014712-5u4e00q6 272 20 with with IN cord-014712-5u4e00q6 272 21 Candida Candida NNP cord-014712-5u4e00q6 272 22 albicans albican NNS cord-014712-5u4e00q6 272 23 . . . cord-014712-5u4e00q6 273 1 They -PRON- PRP cord-014712-5u4e00q6 273 2 also also RB cord-014712-5u4e00q6 273 3 have have VBP cord-014712-5u4e00q6 273 4 skin skin NN cord-014712-5u4e00q6 273 5 infections infection NNS cord-014712-5u4e00q6 273 6 with with IN cord-014712-5u4e00q6 273 7 dermatophytes dermatophyte NNS cord-014712-5u4e00q6 273 8 . . . cord-014712-5u4e00q6 274 1 Patient patient NN cord-014712-5u4e00q6 274 2 1 1 CD cord-014712-5u4e00q6 274 3 presented present VBD cord-014712-5u4e00q6 274 4 from from IN cord-014712-5u4e00q6 274 5 the the DT cord-014712-5u4e00q6 274 6 first first JJ cord-014712-5u4e00q6 274 7 months month NNS cord-014712-5u4e00q6 274 8 of of IN cord-014712-5u4e00q6 274 9 age age NN cord-014712-5u4e00q6 274 10 with with IN cord-014712-5u4e00q6 274 11 severe severe JJ cord-014712-5u4e00q6 274 12 recurrent recurrent JJ cord-014712-5u4e00q6 274 13 sinopulmonary sinopulmonary JJ cord-014712-5u4e00q6 274 14 infections infection NNS cord-014712-5u4e00q6 274 15 . . . cord-014712-5u4e00q6 275 1 Recurrent recurrent JJ cord-014712-5u4e00q6 275 2 pneumonia pneumonia NN cord-014712-5u4e00q6 275 3 and and CC cord-014712-5u4e00q6 275 4 chronic chronic JJ cord-014712-5u4e00q6 275 5 bronchitis bronchitis NN cord-014712-5u4e00q6 275 6 complicated complicate VBN cord-014712-5u4e00q6 275 7 by by IN cord-014712-5u4e00q6 275 8 bronchiectasis bronchiectasis NN cord-014712-5u4e00q6 275 9 , , , cord-014712-5u4e00q6 275 10 which which WDT cord-014712-5u4e00q6 275 11 resulted result VBD cord-014712-5u4e00q6 275 12 in in IN cord-014712-5u4e00q6 275 13 cor cor NNP cord-014712-5u4e00q6 275 14 pulmonale pulmonale NN cord-014712-5u4e00q6 275 15 and and CC cord-014712-5u4e00q6 275 16 congestive congestive JJ cord-014712-5u4e00q6 275 17 heart heart NN cord-014712-5u4e00q6 275 18 failure failure NN cord-014712-5u4e00q6 275 19 . . . cord-014712-5u4e00q6 276 1 Patient patient NN cord-014712-5u4e00q6 276 2 2 2 CD cord-014712-5u4e00q6 276 3 suffered suffer VBD cord-014712-5u4e00q6 276 4 from from IN cord-014712-5u4e00q6 276 5 recurrent recurrent JJ cord-014712-5u4e00q6 276 6 HSV HSV NNP cord-014712-5u4e00q6 276 7 infection infection NN cord-014712-5u4e00q6 276 8 , , , cord-014712-5u4e00q6 276 9 recurrent recurrent JJ cord-014712-5u4e00q6 276 10 aphthous aphthous JJ cord-014712-5u4e00q6 276 11 stomatitis stomatitis NN cord-014712-5u4e00q6 276 12 , , , cord-014712-5u4e00q6 276 13 has have VBZ cord-014712-5u4e00q6 276 14 several several JJ cord-014712-5u4e00q6 276 15 episodes episode NNS cord-014712-5u4e00q6 276 16 of of IN cord-014712-5u4e00q6 276 17 bacterial bacterial JJ cord-014712-5u4e00q6 276 18 skin skin NN cord-014712-5u4e00q6 276 19 infections infection NNS cord-014712-5u4e00q6 276 20 . . . cord-014712-5u4e00q6 277 1 He -PRON- PRP cord-014712-5u4e00q6 277 2 also also RB cord-014712-5u4e00q6 277 3 has have VBZ cord-014712-5u4e00q6 277 4 chronic chronic JJ cord-014712-5u4e00q6 277 5 bronchitis bronchitis NN cord-014712-5u4e00q6 277 6 and and CC cord-014712-5u4e00q6 277 7 several several JJ cord-014712-5u4e00q6 277 8 episodes episode NNS cord-014712-5u4e00q6 277 9 of of IN cord-014712-5u4e00q6 277 10 pneumonia pneumonia NN cord-014712-5u4e00q6 277 11 , , , cord-014712-5u4e00q6 277 12 but but CC cord-014712-5u4e00q6 277 13 does do VBZ cord-014712-5u4e00q6 277 14 not not RB cord-014712-5u4e00q6 277 15 have have VB cord-014712-5u4e00q6 277 16 bronchiectasis bronchiectasis NN cord-014712-5u4e00q6 277 17 . . . cord-014712-5u4e00q6 278 1 Both both DT cord-014712-5u4e00q6 278 2 boys boy NNS cord-014712-5u4e00q6 278 3 developed develop VBD cord-014712-5u4e00q6 278 4 esophageal esophageal JJ cord-014712-5u4e00q6 278 5 stricture stricture NN cord-014712-5u4e00q6 278 6 , , , cord-014712-5u4e00q6 278 7 patient patient JJ cord-014712-5u4e00q6 278 8 2 2 CD cord-014712-5u4e00q6 278 9 necessitating necessitate VBG cord-014712-5u4e00q6 278 10 Nissen Nissen NNP cord-014712-5u4e00q6 278 11 fundoplication fundoplication NN cord-014712-5u4e00q6 278 12 in in IN cord-014712-5u4e00q6 278 13 the the DT cord-014712-5u4e00q6 278 14 age age NN cord-014712-5u4e00q6 278 15 of of IN cord-014712-5u4e00q6 278 16 5 5 CD cord-014712-5u4e00q6 278 17 years year NNS cord-014712-5u4e00q6 278 18 . . . cord-014712-5u4e00q6 279 1 The the DT cord-014712-5u4e00q6 279 2 patients patient NNS cord-014712-5u4e00q6 279 3 have have VBP cord-014712-5u4e00q6 279 4 mild mild JJ cord-014712-5u4e00q6 279 5 autoimmune autoimmune JJ cord-014712-5u4e00q6 279 6 features feature NNS cord-014712-5u4e00q6 279 7 : : : cord-014712-5u4e00q6 279 8 uveitis uveitis NN cord-014712-5u4e00q6 279 9 ( ( -LRB- cord-014712-5u4e00q6 279 10 P1 P1 NNP cord-014712-5u4e00q6 279 11 ) ) -RRB- cord-014712-5u4e00q6 279 12 and and CC cord-014712-5u4e00q6 279 13 alopecia alopecia NNP cord-014712-5u4e00q6 279 14 ( ( -LRB- cord-014712-5u4e00q6 279 15 P2 P2 NNP cord-014712-5u4e00q6 279 16 ) ) -RRB- cord-014712-5u4e00q6 279 17 . . . cord-014712-5u4e00q6 280 1 Immunological immunological JJ cord-014712-5u4e00q6 280 2 investigation investigation NN cord-014712-5u4e00q6 280 3 revealed reveal VBD cord-014712-5u4e00q6 280 4 different different JJ cord-014712-5u4e00q6 280 5 impairment impairment NN cord-014712-5u4e00q6 280 6 of of IN cord-014712-5u4e00q6 280 7 immune immune JJ cord-014712-5u4e00q6 280 8 system system NN cord-014712-5u4e00q6 280 9 : : : cord-014712-5u4e00q6 280 10 more more RBR cord-014712-5u4e00q6 280 11 severe severe JJ cord-014712-5u4e00q6 280 12 , , , cord-014712-5u4e00q6 280 13 similar similar JJ cord-014712-5u4e00q6 280 14 to to IN cord-014712-5u4e00q6 280 15 combined combine VBN cord-014712-5u4e00q6 280 16 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 280 17 in in IN cord-014712-5u4e00q6 280 18 P1 P1 NNP cord-014712-5u4e00q6 280 19 , , , cord-014712-5u4e00q6 280 20 which which WDT cord-014712-5u4e00q6 280 21 declines decline VBZ cord-014712-5u4e00q6 280 22 with with IN cord-014712-5u4e00q6 280 23 age age NN cord-014712-5u4e00q6 280 24 . . . cord-014712-5u4e00q6 281 1 The the DT cord-014712-5u4e00q6 281 2 P2 P2 NNP cord-014712-5u4e00q6 281 3 does do VBZ cord-014712-5u4e00q6 281 4 not not RB cord-014712-5u4e00q6 281 5 have have VB cord-014712-5u4e00q6 281 6 changes change NNS cord-014712-5u4e00q6 281 7 in in IN cord-014712-5u4e00q6 281 8 lymphocyte lymphocyte NN cord-014712-5u4e00q6 281 9 number number NN cord-014712-5u4e00q6 281 10 and and CC cord-014712-5u4e00q6 281 11 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 281 12 's 's POS cord-014712-5u4e00q6 281 13 , , , cord-014712-5u4e00q6 281 14 but but CC cord-014712-5u4e00q6 281 15 impaired impaired JJ cord-014712-5u4e00q6 281 16 antibody antibody NN cord-014712-5u4e00q6 281 17 production production NN cord-014712-5u4e00q6 281 18 to to IN cord-014712-5u4e00q6 281 19 pneumococcal pneumococcal JJ cord-014712-5u4e00q6 281 20 antigens antigen NNS cord-014712-5u4e00q6 281 21 . . . cord-014712-5u4e00q6 282 1 Western western JJ cord-014712-5u4e00q6 282 2 blotting blotting NN cord-014712-5u4e00q6 282 3 performed perform VBN cord-014712-5u4e00q6 282 4 with with IN cord-014712-5u4e00q6 282 5 nuclear nuclear JJ cord-014712-5u4e00q6 282 6 extracts extract NNS cord-014712-5u4e00q6 282 7 of of IN cord-014712-5u4e00q6 282 8 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 282 9 of of IN cord-014712-5u4e00q6 282 10 both both DT cord-014712-5u4e00q6 282 11 patients patient NNS cord-014712-5u4e00q6 282 12 showed show VBD cord-014712-5u4e00q6 282 13 stronger strong JJR cord-014712-5u4e00q6 282 14 STAT1 stat1 NN cord-014712-5u4e00q6 282 15 phosphorylation phosphorylation NN cord-014712-5u4e00q6 282 16 after after IN cord-014712-5u4e00q6 282 17 stimulation stimulation NN cord-014712-5u4e00q6 282 18 with with IN cord-014712-5u4e00q6 282 19 cytokines cytokine NNS cord-014712-5u4e00q6 282 20 IFNγ IFNγ NNS cord-014712-5u4e00q6 282 21 , , , cord-014712-5u4e00q6 282 22 IFNα IFNα NNS cord-014712-5u4e00q6 282 23 , , , cord-014712-5u4e00q6 282 24 IL-27 IL-27 NNP cord-014712-5u4e00q6 282 25 . . . cord-014712-5u4e00q6 283 1 Mononuclear Mononuclear NNP cord-014712-5u4e00q6 283 2 blood blood NN cord-014712-5u4e00q6 283 3 cells cell NNS cord-014712-5u4e00q6 283 4 from from IN cord-014712-5u4e00q6 283 5 both both DT cord-014712-5u4e00q6 283 6 patients patient NNS cord-014712-5u4e00q6 283 7 released release VBD cord-014712-5u4e00q6 283 8 much much RB cord-014712-5u4e00q6 283 9 smaller small JJR cord-014712-5u4e00q6 283 10 amounts amount NNS cord-014712-5u4e00q6 283 11 of of IN cord-014712-5u4e00q6 283 12 IL-17A IL-17A NNP cord-014712-5u4e00q6 283 13 and and CC cord-014712-5u4e00q6 283 14 IL-22 IL-22 NNP cord-014712-5u4e00q6 283 15 than than IN cord-014712-5u4e00q6 283 16 Candida Candida NNP cord-014712-5u4e00q6 283 17 - - HYPH cord-014712-5u4e00q6 283 18 exposed expose VBN cord-014712-5u4e00q6 283 19 cells cell NNS cord-014712-5u4e00q6 283 20 from from IN cord-014712-5u4e00q6 283 21 healthy healthy JJ cord-014712-5u4e00q6 283 22 control control NN cord-014712-5u4e00q6 283 23 . . . cord-014712-5u4e00q6 284 1 STAT3 STAT3 NNP cord-014712-5u4e00q6 285 1 activation activation NN cord-014712-5u4e00q6 285 2 triggers trigger VBZ cord-014712-5u4e00q6 285 3 transcription transcription NN cord-014712-5u4e00q6 285 4 of of IN cord-014712-5u4e00q6 285 5 interleukin interleukin NN cord-014712-5u4e00q6 285 6 ( ( -LRB- cord-014712-5u4e00q6 285 7 IL)-17 il)-17 NN cord-014712-5u4e00q6 285 8 which which WDT cord-014712-5u4e00q6 285 9 is be VBZ cord-014712-5u4e00q6 285 10 crucial crucial JJ cord-014712-5u4e00q6 285 11 for for IN cord-014712-5u4e00q6 285 12 mounting mount VBG cord-014712-5u4e00q6 285 13 protective protective JJ cord-014712-5u4e00q6 285 14 immune immune JJ cord-014712-5u4e00q6 285 15 responses response NNS cord-014712-5u4e00q6 285 16 against against IN cord-014712-5u4e00q6 285 17 fungi fungus NNS cord-014712-5u4e00q6 285 18 . . . cord-014712-5u4e00q6 286 1 Several several JJ cord-014712-5u4e00q6 286 2 mutations mutation NNS cord-014712-5u4e00q6 286 3 affecting affect VBG cord-014712-5u4e00q6 286 4 the the DT cord-014712-5u4e00q6 286 5 STAT3 STAT3 NNP cord-014712-5u4e00q6 286 6 / / SYM cord-014712-5u4e00q6 286 7 IL-17 IL-17 NNP cord-014712-5u4e00q6 286 8 pathway pathway NN cord-014712-5u4e00q6 286 9 have have VBP cord-014712-5u4e00q6 286 10 been be VBN cord-014712-5u4e00q6 286 11 reported report VBN cord-014712-5u4e00q6 286 12 , , , cord-014712-5u4e00q6 286 13 resulting result VBG cord-014712-5u4e00q6 286 14 in in IN cord-014712-5u4e00q6 286 15 selective selective JJ cord-014712-5u4e00q6 286 16 susceptibility susceptibility NN cord-014712-5u4e00q6 286 17 to to IN cord-014712-5u4e00q6 286 18 fungal fungal VB cord-014712-5u4e00q6 286 19 ( ( -LRB- cord-014712-5u4e00q6 286 20 Candida candida NN cord-014712-5u4e00q6 286 21 ) ) -RRB- cord-014712-5u4e00q6 286 22 infection infection NN cord-014712-5u4e00q6 286 23 , , , cord-014712-5u4e00q6 286 24 a a DT cord-014712-5u4e00q6 286 25 hallmark hallmark NN cord-014712-5u4e00q6 286 26 of of IN cord-014712-5u4e00q6 286 27 Chronic Chronic NNP cord-014712-5u4e00q6 286 28 Mucocutaneous Mucocutaneous NNP cord-014712-5u4e00q6 286 29 Candidiasis Candidiasis NNP cord-014712-5u4e00q6 286 30 ( ( -LRB- cord-014712-5u4e00q6 286 31 CMC CMC NNP cord-014712-5u4e00q6 286 32 ) ) -RRB- cord-014712-5u4e00q6 286 33 . . . cord-014712-5u4e00q6 287 1 In in IN cord-014712-5u4e00q6 287 2 patients patient NNS cord-014712-5u4e00q6 287 3 with with IN cord-014712-5u4e00q6 287 4 autosomal autosomal JJ cord-014712-5u4e00q6 287 5 - - HYPH cord-014712-5u4e00q6 287 6 dominant dominant JJ cord-014712-5u4e00q6 287 7 ( ( -LRB- cord-014712-5u4e00q6 287 8 AD)-CMC ad)-cmc NN cord-014712-5u4e00q6 287 9 we -PRON- PRP cord-014712-5u4e00q6 287 10 previously previously RB cord-014712-5u4e00q6 287 11 reported report VBD cord-014712-5u4e00q6 288 1 defective defective JJ cord-014712-5u4e00q6 288 2 Th17 Th17 NNP cord-014712-5u4e00q6 288 3 responses response NNS cord-014712-5u4e00q6 288 4 and and CC cord-014712-5u4e00q6 288 5 identified identify VBD cord-014712-5u4e00q6 288 6 an an DT cord-014712-5u4e00q6 288 7 underlying underlying JJ cord-014712-5u4e00q6 288 8 gain gain NN cord-014712-5u4e00q6 288 9 - - HYPH cord-014712-5u4e00q6 288 10 of of IN cord-014712-5u4e00q6 288 11 - - HYPH cord-014712-5u4e00q6 288 12 function function NN cord-014712-5u4e00q6 288 13 ( ( -LRB- cord-014712-5u4e00q6 288 14 GOF GOF NNP cord-014712-5u4e00q6 288 15 ) ) -RRB- cord-014712-5u4e00q6 288 16 STAT1 stat1 XX cord-014712-5u4e00q6 288 17 mutation mutation NN cord-014712-5u4e00q6 288 18 leading lead VBG cord-014712-5u4e00q6 288 19 to to IN cord-014712-5u4e00q6 288 20 hyperphosphorylation hyperphosphorylation NN cord-014712-5u4e00q6 288 21 of of IN cord-014712-5u4e00q6 288 22 STAT1 stat1 NN cord-014712-5u4e00q6 288 23 . . . cord-014712-5u4e00q6 289 1 How how WRB cord-014712-5u4e00q6 289 2 this this DT cord-014712-5u4e00q6 289 3 affects affect VBZ cord-014712-5u4e00q6 289 4 STAT3 STAT3 NNP cord-014712-5u4e00q6 289 5 or or CC cord-014712-5u4e00q6 289 6 leads lead VBZ cord-014712-5u4e00q6 289 7 to to IN cord-014712-5u4e00q6 289 8 decreased decrease VBN cord-014712-5u4e00q6 290 1 IL-17 IL-17 NNP cord-014712-5u4e00q6 290 2 remains remain VBZ cord-014712-5u4e00q6 290 3 to to TO cord-014712-5u4e00q6 290 4 be be VB cord-014712-5u4e00q6 290 5 determined determine VBN cord-014712-5u4e00q6 290 6 . . . cord-014712-5u4e00q6 291 1 In in IN cord-014712-5u4e00q6 291 2 patients patient NNS cord-014712-5u4e00q6 291 3 with with IN cord-014712-5u4e00q6 291 4 AD ad NN cord-014712-5u4e00q6 291 5 - - HYPH cord-014712-5u4e00q6 291 6 CMC CMC NNP cord-014712-5u4e00q6 291 7 , , , cord-014712-5u4e00q6 291 8 we -PRON- PRP cord-014712-5u4e00q6 291 9 assessed assess VBD cord-014712-5u4e00q6 291 10 how how WRB cord-014712-5u4e00q6 291 11 GOF GOF NNP cord-014712-5u4e00q6 291 12 - - HYPH cord-014712-5u4e00q6 291 13 STAT1 stat1 NN cord-014712-5u4e00q6 291 14 mutations mutation NNS cord-014712-5u4e00q6 291 15 affect affect VBP cord-014712-5u4e00q6 291 16 STAT3 STAT3 NNP cord-014712-5u4e00q6 291 17 activation activation NN cord-014712-5u4e00q6 291 18 , , , cord-014712-5u4e00q6 291 19 DNA dna NN cord-014712-5u4e00q6 291 20 - - HYPH cord-014712-5u4e00q6 291 21 binding bind VBG cord-014712-5u4e00q6 291 22 , , , cord-014712-5u4e00q6 291 23 gene gene NN cord-014712-5u4e00q6 291 24 expression expression NN cord-014712-5u4e00q6 291 25 , , , cord-014712-5u4e00q6 291 26 cytokine cytokine NN cord-014712-5u4e00q6 291 27 production production NN cord-014712-5u4e00q6 291 28 and and CC cord-014712-5u4e00q6 291 29 the the DT cord-014712-5u4e00q6 291 30 effect effect NN cord-014712-5u4e00q6 291 31 of of IN cord-014712-5u4e00q6 291 32 epigenetic epigenetic JJ cord-014712-5u4e00q6 291 33 modification modification NN cord-014712-5u4e00q6 291 34 . . . cord-014712-5u4e00q6 292 1 We -PRON- PRP cord-014712-5u4e00q6 292 2 show show VBP cord-014712-5u4e00q6 292 3 that that IN cord-014712-5u4e00q6 292 4 stimulation stimulation NN cord-014712-5u4e00q6 292 5 of of IN cord-014712-5u4e00q6 292 6 STAT3 STAT3 NNP cord-014712-5u4e00q6 292 7 in in IN cord-014712-5u4e00q6 292 8 the the DT cord-014712-5u4e00q6 292 9 presence presence NN cord-014712-5u4e00q6 292 10 of of IN cord-014712-5u4e00q6 292 11 GOF GOF NNP cord-014712-5u4e00q6 292 12 - - HYPH cord-014712-5u4e00q6 292 13 STAT1 stat1 NN cord-014712-5u4e00q6 292 14 mutations mutation NNS cord-014712-5u4e00q6 292 15 leads lead VBZ cord-014712-5u4e00q6 292 16 to to IN cord-014712-5u4e00q6 292 17 significantly significantly RB cord-014712-5u4e00q6 292 18 reduced reduce VBN cord-014712-5u4e00q6 292 19 transcription transcription NN cord-014712-5u4e00q6 292 20 of of IN cord-014712-5u4e00q6 292 21 STAT3-inducible stat3-inducible NN cord-014712-5u4e00q6 292 22 genes gene NNS cord-014712-5u4e00q6 292 23 ( ( -LRB- cord-014712-5u4e00q6 292 24 RORC RORC NNS cord-014712-5u4e00q6 292 25 / / SYM cord-014712-5u4e00q6 292 26 IL-17/ IL-17/ NNP cord-014712-5u4e00q6 292 27 IL-22 IL-22 NNP cord-014712-5u4e00q6 292 28 / / SYM cord-014712-5u4e00q6 292 29 IL-10 IL-10 NNP cord-014712-5u4e00q6 292 30 / / SYM cord-014712-5u4e00q6 292 31 c c NNP cord-014712-5u4e00q6 292 32 - - : cord-014712-5u4e00q6 292 33 Fos Fos NNP cord-014712-5u4e00q6 292 34 / / SYM cord-014712-5u4e00q6 292 35 SOCS3 SOCS3 NNP cord-014712-5u4e00q6 292 36 / / SYM cord-014712-5u4e00q6 292 37 c c NNP cord-014712-5u4e00q6 292 38 - - HYPH cord-014712-5u4e00q6 292 39 Myc Myc NNP cord-014712-5u4e00q6 292 40 ) ) -RRB- cord-014712-5u4e00q6 292 41 . . . cord-014712-5u4e00q6 293 1 This this DT cord-014712-5u4e00q6 293 2 was be VBD cord-014712-5u4e00q6 293 3 not not RB cord-014712-5u4e00q6 293 4 due due JJ cord-014712-5u4e00q6 293 5 to to IN cord-014712-5u4e00q6 293 6 impaired impaired JJ cord-014712-5u4e00q6 293 7 STAT3 STAT3 NNP cord-014712-5u4e00q6 293 8 phosphorylation phosphorylation NN cord-014712-5u4e00q6 293 9 , , , cord-014712-5u4e00q6 293 10 altered alter VBN cord-014712-5u4e00q6 293 11 nuclear nuclear JJ cord-014712-5u4e00q6 293 12 translocation translocation NN cord-014712-5u4e00q6 293 13 nor nor CC cord-014712-5u4e00q6 293 14 sequestration sequestration NN cord-014712-5u4e00q6 293 15 of of IN cord-014712-5u4e00q6 293 16 STAT3 STAT3 NNP cord-014712-5u4e00q6 293 17 into into IN cord-014712-5u4e00q6 294 1 STAT1 STAT1 NNP cord-014712-5u4e00q6 294 2 / / SYM cord-014712-5u4e00q6 294 3 STAT3 stat3 CD cord-014712-5u4e00q6 294 4 heterodimers heterodimer NNS cord-014712-5u4e00q6 294 5 . . . cord-014712-5u4e00q6 295 1 DNA dna NN cord-014712-5u4e00q6 295 2 binding binding NN cord-014712-5u4e00q6 295 3 to to IN cord-014712-5u4e00q6 295 4 a a DT cord-014712-5u4e00q6 295 5 STAT stat NN cord-014712-5u4e00q6 295 6 - - HYPH cord-014712-5u4e00q6 295 7 consensus consensus NN cord-014712-5u4e00q6 295 8 binding bind VBG cord-014712-5u4e00q6 295 9 site site NN cord-014712-5u4e00q6 295 10 construct construct NN cord-014712-5u4e00q6 295 11 ( ( -LRB- cord-014712-5u4e00q6 295 12 hSIE hsie NN cord-014712-5u4e00q6 295 13 ) ) -RRB- cord-014712-5u4e00q6 295 14 was be VBD cord-014712-5u4e00q6 295 15 intact intact JJ cord-014712-5u4e00q6 295 16 but but CC cord-014712-5u4e00q6 295 17 binding bind VBG cord-014712-5u4e00q6 295 18 to to IN cord-014712-5u4e00q6 295 19 an an DT cord-014712-5u4e00q6 295 20 endogenous endogenous JJ cord-014712-5u4e00q6 295 21 STAT3 stat3 CD cord-014712-5u4e00q6 295 22 DNA dna NN cord-014712-5u4e00q6 295 23 target target NN cord-014712-5u4e00q6 295 24 was be VBD cord-014712-5u4e00q6 295 25 impaired impair VBN cord-014712-5u4e00q6 295 26 . . . cord-014712-5u4e00q6 296 1 The the DT cord-014712-5u4e00q6 296 2 reduced reduced JJ cord-014712-5u4e00q6 296 3 STAT3-dependent STAT3-dependent NNP cord-014712-5u4e00q6 296 4 gene gene NN cord-014712-5u4e00q6 296 5 transcription transcription NN cord-014712-5u4e00q6 296 6 could could MD cord-014712-5u4e00q6 296 7 be be VB cord-014712-5u4e00q6 296 8 normalized normalize VBN cord-014712-5u4e00q6 296 9 by by IN cord-014712-5u4e00q6 296 10 inhibiting inhibit VBG cord-014712-5u4e00q6 296 11 STAT1 stat1 NN cord-014712-5u4e00q6 296 12 activation activation NN cord-014712-5u4e00q6 296 13 by by IN cord-014712-5u4e00q6 296 14 fludarabine fludarabine NN cord-014712-5u4e00q6 296 15 or or CC cord-014712-5u4e00q6 296 16 enhancing enhance VBG cord-014712-5u4e00q6 296 17 acetylation acetylation NN cord-014712-5u4e00q6 296 18 with with IN cord-014712-5u4e00q6 296 19 histone histone NN cord-014712-5u4e00q6 296 20 deacetylase deacetylase NN cord-014712-5u4e00q6 296 21 ( ( -LRB- cord-014712-5u4e00q6 296 22 HDAC HDAC NNP cord-014712-5u4e00q6 296 23 ) ) -RRB- cord-014712-5u4e00q6 297 1 inhibitors inhibitor NNS cord-014712-5u4e00q6 297 2 trichostatin trichostatin NNP cord-014712-5u4e00q6 298 1 A a NN cord-014712-5u4e00q6 298 2 or or CC cord-014712-5u4e00q6 298 3 ITF2357 ITF2357 NNP cord-014712-5u4e00q6 298 4 . . . cord-014712-5u4e00q6 299 1 Silencing silence VBG cord-014712-5u4e00q6 299 2 HDAC1 hdac1 NN cord-014712-5u4e00q6 299 3 , , , cord-014712-5u4e00q6 299 4 HDA2 HDA2 NNP cord-014712-5u4e00q6 299 5 and and CC cord-014712-5u4e00q6 299 6 HDAC3 HDAC3 NNP cord-014712-5u4e00q6 300 1 indicated indicate VBD cord-014712-5u4e00q6 300 2 an an DT cord-014712-5u4e00q6 300 3 important important JJ cord-014712-5u4e00q6 300 4 role role NN cord-014712-5u4e00q6 300 5 for for IN cord-014712-5u4e00q6 300 6 HDAC1 HDAC1 NNP cord-014712-5u4e00q6 300 7 . . . cord-014712-5u4e00q6 301 1 Impaired impaired JJ cord-014712-5u4e00q6 301 2 STAT3-dependent STAT3-dependent NNP cord-014712-5u4e00q6 301 3 gene gene NN cord-014712-5u4e00q6 301 4 transcription transcription NN cord-014712-5u4e00q6 301 5 likely likely RB cord-014712-5u4e00q6 301 6 underlies underlie VBZ cord-014712-5u4e00q6 301 7 decreased decrease VBD cord-014712-5u4e00q6 301 8 Th-17 Th-17 NNP cord-014712-5u4e00q6 301 9 cytokine cytokine NN cord-014712-5u4e00q6 301 10 production production NN cord-014712-5u4e00q6 301 11 , , , cord-014712-5u4e00q6 301 12 susceptibility susceptibility NN cord-014712-5u4e00q6 301 13 to to IN cord-014712-5u4e00q6 301 14 fungal fungal JJ cord-014712-5u4e00q6 301 15 infections infection NNS cord-014712-5u4e00q6 301 16 and and CC cord-014712-5u4e00q6 301 17 other other JJ cord-014712-5u4e00q6 301 18 pathology pathology NN cord-014712-5u4e00q6 301 19 seen see VBN cord-014712-5u4e00q6 301 20 in in IN cord-014712-5u4e00q6 301 21 AD ad NN cord-014712-5u4e00q6 301 22 - - HYPH cord-014712-5u4e00q6 301 23 CMC CMC NNP cord-014712-5u4e00q6 301 24 patients patient NNS cord-014712-5u4e00q6 301 25 and and CC cord-014712-5u4e00q6 301 26 could could MD cord-014712-5u4e00q6 301 27 be be VB cord-014712-5u4e00q6 301 28 a a DT cord-014712-5u4e00q6 301 29 new new JJ cord-014712-5u4e00q6 301 30 target target NN cord-014712-5u4e00q6 301 31 for for IN cord-014712-5u4e00q6 301 32 defining define VBG cord-014712-5u4e00q6 301 33 novel novel JJ cord-014712-5u4e00q6 301 34 therapeutic therapeutic JJ cord-014712-5u4e00q6 301 35 approaches approach NNS cord-014712-5u4e00q6 301 36 for for IN cord-014712-5u4e00q6 301 37 this this DT cord-014712-5u4e00q6 301 38 potentially potentially RB cord-014712-5u4e00q6 301 39 lethal lethal JJ cord-014712-5u4e00q6 301 40 disease disease NN cord-014712-5u4e00q6 301 41 . . . cord-014712-5u4e00q6 302 1 Autoimmune autoimmune JJ cord-014712-5u4e00q6 302 2 features feature NNS cord-014712-5u4e00q6 302 3 have have VBP cord-014712-5u4e00q6 302 4 been be VBN cord-014712-5u4e00q6 302 5 long long RB cord-014712-5u4e00q6 302 6 thought think VBN cord-014712-5u4e00q6 302 7 as as IN cord-014712-5u4e00q6 302 8 association association NN cord-014712-5u4e00q6 302 9 with with IN cord-014712-5u4e00q6 302 10 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 302 11 disorders disorder NNS cord-014712-5u4e00q6 302 12 , , , cord-014712-5u4e00q6 302 13 but but CC cord-014712-5u4e00q6 302 14 are be VBP cord-014712-5u4e00q6 302 15 now now RB cord-014712-5u4e00q6 302 16 viewed view VBN cord-014712-5u4e00q6 302 17 as as IN cord-014712-5u4e00q6 302 18 a a DT cord-014712-5u4e00q6 302 19 crucial crucial JJ cord-014712-5u4e00q6 302 20 component component NN cord-014712-5u4e00q6 302 21 of of IN cord-014712-5u4e00q6 302 22 some some DT cord-014712-5u4e00q6 302 23 diseases disease NNS cord-014712-5u4e00q6 302 24 attributed attribute VBN cord-014712-5u4e00q6 302 25 to to IN cord-014712-5u4e00q6 302 26 the the DT cord-014712-5u4e00q6 302 27 breakdown breakdown NN cord-014712-5u4e00q6 302 28 of of IN cord-014712-5u4e00q6 302 29 self self NN cord-014712-5u4e00q6 302 30 tolerance tolerance NN cord-014712-5u4e00q6 302 31 or or CC cord-014712-5u4e00q6 302 32 defects defect NNS cord-014712-5u4e00q6 302 33 of of IN cord-014712-5u4e00q6 302 34 immune immune JJ cord-014712-5u4e00q6 302 35 regulators regulator NNS cord-014712-5u4e00q6 302 36 . . . cord-014712-5u4e00q6 303 1 It -PRON- PRP cord-014712-5u4e00q6 303 2 had have VBD cord-014712-5u4e00q6 303 3 been be VBN cord-014712-5u4e00q6 303 4 previously previously RB cord-014712-5u4e00q6 303 5 established establish VBN cord-014712-5u4e00q6 303 6 that that IN cord-014712-5u4e00q6 303 7 a a DT cord-014712-5u4e00q6 303 8 single single JJ cord-014712-5u4e00q6 303 9 gene gene NN cord-014712-5u4e00q6 303 10 defect defect NN cord-014712-5u4e00q6 303 11 of of IN cord-014712-5u4e00q6 303 12 the the DT cord-014712-5u4e00q6 303 13 Foxp3 foxp3 JJ cord-014712-5u4e00q6 303 14 gene gene NN cord-014712-5u4e00q6 303 15 ( ( -LRB- cord-014712-5u4e00q6 303 16 FOXP3 foxp3 NN cord-014712-5u4e00q6 303 17 in in IN cord-014712-5u4e00q6 303 18 humans human NNS cord-014712-5u4e00q6 303 19 ) ) -RRB- cord-014712-5u4e00q6 303 20 caused cause VBD cord-014712-5u4e00q6 303 21 widespread widespread JJ cord-014712-5u4e00q6 303 22 autoimmunity autoimmunity NN cord-014712-5u4e00q6 303 23 in in IN cord-014712-5u4e00q6 303 24 both both DT cord-014712-5u4e00q6 303 25 humans human NNS cord-014712-5u4e00q6 303 26 and and CC cord-014712-5u4e00q6 303 27 mice mouse NNS cord-014712-5u4e00q6 303 28 . . . cord-014712-5u4e00q6 304 1 The the DT cord-014712-5u4e00q6 304 2 clinical clinical JJ cord-014712-5u4e00q6 304 3 syndromes syndrome NNS cord-014712-5u4e00q6 304 4 observed observe VBN cord-014712-5u4e00q6 304 5 in in IN cord-014712-5u4e00q6 304 6 both both DT cord-014712-5u4e00q6 304 7 scurfy scurfy NNP cord-014712-5u4e00q6 304 8 mice mouse NNS cord-014712-5u4e00q6 304 9 and and CC cord-014712-5u4e00q6 304 10 humans human NNS cord-014712-5u4e00q6 304 11 suffering suffer VBG cord-014712-5u4e00q6 304 12 from from IN cord-014712-5u4e00q6 304 13 IPEX IPEX NNP cord-014712-5u4e00q6 304 14 are be VBP cord-014712-5u4e00q6 304 15 similar similar JJ cord-014712-5u4e00q6 304 16 to to IN cord-014712-5u4e00q6 304 17 those those DT cord-014712-5u4e00q6 304 18 observed observe VBN cord-014712-5u4e00q6 304 19 in in IN cord-014712-5u4e00q6 304 20 experimental experimental JJ cord-014712-5u4e00q6 304 21 models model NNS cord-014712-5u4e00q6 304 22 in in IN cord-014712-5u4e00q6 304 23 which which WDT cord-014712-5u4e00q6 304 24 Treg Treg NNP cord-014712-5u4e00q6 304 25 are be VBP cord-014712-5u4e00q6 304 26 selectively selectively RB cord-014712-5u4e00q6 304 27 depleted deplete VBN cord-014712-5u4e00q6 304 28 . . . cord-014712-5u4e00q6 305 1 In in IN cord-014712-5u4e00q6 305 2 2003 2003 CD cord-014712-5u4e00q6 305 3 , , , cord-014712-5u4e00q6 305 4 three three CD cord-014712-5u4e00q6 305 5 groups group NNS cord-014712-5u4e00q6 305 6 demonstrated demonstrate VBD cord-014712-5u4e00q6 305 7 that that IN cord-014712-5u4e00q6 305 8 these these DT cord-014712-5u4e00q6 305 9 diseases disease NNS cord-014712-5u4e00q6 305 10 were be VBD cord-014712-5u4e00q6 305 11 indeed indeed RB cord-014712-5u4e00q6 305 12 the the DT cord-014712-5u4e00q6 305 13 result result NN cord-014712-5u4e00q6 305 14 of of IN cord-014712-5u4e00q6 305 15 a a DT cord-014712-5u4e00q6 305 16 regulatory regulatory JJ cord-014712-5u4e00q6 305 17 cell cell NN cord-014712-5u4e00q6 305 18 deficiency deficiency NN cord-014712-5u4e00q6 305 19 . . . cord-014712-5u4e00q6 306 1 Around around RB cord-014712-5u4e00q6 306 2 one one CD cord-014712-5u4e00q6 306 3 third third NN cord-014712-5u4e00q6 306 4 of of IN cord-014712-5u4e00q6 306 5 the the DT cord-014712-5u4e00q6 306 6 patients patient NNS cord-014712-5u4e00q6 306 7 with with IN cord-014712-5u4e00q6 306 8 clinical clinical JJ cord-014712-5u4e00q6 306 9 manifestation manifestation NN cord-014712-5u4e00q6 306 10 closely closely RB cord-014712-5u4e00q6 306 11 resembling resemble VBG cord-014712-5u4e00q6 306 12 IPEX IPEX NNP cord-014712-5u4e00q6 306 13 syndrome syndrome NN cord-014712-5u4e00q6 306 14 , , , cord-014712-5u4e00q6 306 15 FOXP3 FOXP3 NNP cord-014712-5u4e00q6 306 16 is be VBZ cord-014712-5u4e00q6 306 17 not not RB cord-014712-5u4e00q6 306 18 mutated mutate VBN cord-014712-5u4e00q6 306 19 , , , cord-014712-5u4e00q6 306 20 these these DT cord-014712-5u4e00q6 306 21 patients patient NNS cord-014712-5u4e00q6 306 22 are be VBP cord-014712-5u4e00q6 306 23 referred refer VBN cord-014712-5u4e00q6 306 24 to to IN cord-014712-5u4e00q6 306 25 as as RB cord-014712-5u4e00q6 306 26 IPEX IPEX NNP cord-014712-5u4e00q6 306 27 like like UH cord-014712-5u4e00q6 306 28 . . . cord-014712-5u4e00q6 307 1 Here here RB cord-014712-5u4e00q6 307 2 we -PRON- PRP cord-014712-5u4e00q6 307 3 present present VBP cord-014712-5u4e00q6 307 4 a a DT cord-014712-5u4e00q6 307 5 case case NN cord-014712-5u4e00q6 307 6 ; ; : cord-014712-5u4e00q6 307 7 a a DT cord-014712-5u4e00q6 307 8 female female JJ cord-014712-5u4e00q6 307 9 patient patient NN cord-014712-5u4e00q6 307 10 13 13 CD cord-014712-5u4e00q6 307 11 years year NNS cord-014712-5u4e00q6 307 12 with with IN cord-014712-5u4e00q6 307 13 multiple multiple JJ cord-014712-5u4e00q6 307 14 autoimmune autoimmune JJ cord-014712-5u4e00q6 307 15 manifestations manifestation NNS cord-014712-5u4e00q6 307 16 ; ; : cord-014712-5u4e00q6 307 17 DM DM NNP cord-014712-5u4e00q6 307 18 , , , cord-014712-5u4e00q6 307 19 Coeliac coeliac JJ cord-014712-5u4e00q6 307 20 disease disease NN cord-014712-5u4e00q6 307 21 and and CC cord-014712-5u4e00q6 307 22 ulcerative ulcerative JJ cord-014712-5u4e00q6 307 23 colitis colitis NN cord-014712-5u4e00q6 307 24 with with IN cord-014712-5u4e00q6 307 25 marked marked JJ cord-014712-5u4e00q6 307 26 decrease decrease NN cord-014712-5u4e00q6 307 27 in in IN cord-014712-5u4e00q6 307 28 the the DT cord-014712-5u4e00q6 307 29 percent percent NN cord-014712-5u4e00q6 307 30 of of IN cord-014712-5u4e00q6 307 31 CD4 CD4 NNP cord-014712-5u4e00q6 307 32 + + CC cord-014712-5u4e00q6 307 33 CD25 CD25 NNP cord-014712-5u4e00q6 307 34 + + CC cord-014712-5u4e00q6 307 35 FoxP3 FoxP3 NNP cord-014712-5u4e00q6 307 36 + + CC cord-014712-5u4e00q6 307 37 cells cell NNS cord-014712-5u4e00q6 307 38 . . . cord-014712-5u4e00q6 308 1 As as IN cord-014712-5u4e00q6 308 2 she -PRON- PRP cord-014712-5u4e00q6 308 3 has have VBZ cord-014712-5u4e00q6 308 4 a a DT cord-014712-5u4e00q6 308 5 siblings sibling NNS cord-014712-5u4e00q6 308 6 suffering suffer VBG cord-014712-5u4e00q6 308 7 from from IN cord-014712-5u4e00q6 308 8 DM DM NNP cord-014712-5u4e00q6 308 9 ; ; : cord-014712-5u4e00q6 308 10 the the DT cord-014712-5u4e00q6 308 11 whole whole JJ cord-014712-5u4e00q6 308 12 family family NN cord-014712-5u4e00q6 308 13 was be VBD cord-014712-5u4e00q6 308 14 investigated investigate VBN cord-014712-5u4e00q6 308 15 . . . cord-014712-5u4e00q6 309 1 The the DT cord-014712-5u4e00q6 309 2 father father NN cord-014712-5u4e00q6 309 3 and and CC cord-014712-5u4e00q6 309 4 the the DT cord-014712-5u4e00q6 309 5 mother mother NN cord-014712-5u4e00q6 309 6 had have VBD cord-014712-5u4e00q6 309 7 0 0 CD cord-014712-5u4e00q6 309 8 % % NN cord-014712-5u4e00q6 309 9 CD4 CD4 NNP cord-014712-5u4e00q6 309 10 + + CC cord-014712-5u4e00q6 309 11 CD25 CD25 NNP cord-014712-5u4e00q6 309 12 + + CC cord-014712-5u4e00q6 309 13 FoxP3 FoxP3 NNP cord-014712-5u4e00q6 309 14 + + CC cord-014712-5u4e00q6 309 15 cells cell NNS cord-014712-5u4e00q6 309 16 . . . cord-014712-5u4e00q6 310 1 Background background NN cord-014712-5u4e00q6 310 2 : : : cord-014712-5u4e00q6 311 1 HIDs HIDs NNP cord-014712-5u4e00q6 311 2 is be VBZ cord-014712-5u4e00q6 311 3 an an DT cord-014712-5u4e00q6 311 4 autosomal autosomal JJ cord-014712-5u4e00q6 311 5 recessive recessive JJ cord-014712-5u4e00q6 311 6 disease disease NN cord-014712-5u4e00q6 311 7 , , , cord-014712-5u4e00q6 311 8 first first RB cord-014712-5u4e00q6 311 9 recognized recognize VBN cord-014712-5u4e00q6 311 10 as as IN cord-014712-5u4e00q6 311 11 a a DT cord-014712-5u4e00q6 311 12 separated separated JJ cord-014712-5u4e00q6 311 13 entity entity NN cord-014712-5u4e00q6 311 14 at at IN cord-014712-5u4e00q6 311 15 1984 1984 CD cord-014712-5u4e00q6 311 16 . . . cord-014712-5u4e00q6 312 1 In in IN cord-014712-5u4e00q6 312 2 patients patient NNS cord-014712-5u4e00q6 312 3 with with IN cord-014712-5u4e00q6 312 4 HIDS HIDS NNP cord-014712-5u4e00q6 312 5 , , , cord-014712-5u4e00q6 312 6 the the DT cord-014712-5u4e00q6 312 7 activity activity NN cord-014712-5u4e00q6 312 8 of of IN cord-014712-5u4e00q6 312 9 mevalonate mevalonate NNP cord-014712-5u4e00q6 312 10 kinase kinase NN cord-014712-5u4e00q6 312 11 is be VBZ cord-014712-5u4e00q6 312 12 reduced reduce VBN cord-014712-5u4e00q6 312 13 to to IN cord-014712-5u4e00q6 312 14 5 5 CD cord-014712-5u4e00q6 312 15 - - SYM cord-014712-5u4e00q6 312 16 15 15 CD cord-014712-5u4e00q6 312 17 % % NN cord-014712-5u4e00q6 312 18 of of IN cord-014712-5u4e00q6 312 19 normal normal JJ cord-014712-5u4e00q6 312 20 levels level NNS cord-014712-5u4e00q6 312 21 . . . cord-014712-5u4e00q6 313 1 HIDS HIDS NNP cord-014712-5u4e00q6 313 2 is be VBZ cord-014712-5u4e00q6 313 3 caused cause VBN cord-014712-5u4e00q6 313 4 by by IN cord-014712-5u4e00q6 313 5 mutations mutation NNS cord-014712-5u4e00q6 313 6 in in IN cord-014712-5u4e00q6 313 7 the the DT cord-014712-5u4e00q6 313 8 mevalonate mevalonate NN cord-014712-5u4e00q6 313 9 kinase kinase NN cord-014712-5u4e00q6 313 10 gene gene NN cord-014712-5u4e00q6 313 11 ( ( -LRB- cord-014712-5u4e00q6 313 12 MVK MVK NNP cord-014712-5u4e00q6 313 13 ) ) -RRB- cord-014712-5u4e00q6 313 14 , , , cord-014712-5u4e00q6 313 15 located locate VBN cord-014712-5u4e00q6 313 16 on on IN cord-014712-5u4e00q6 313 17 the the DT cord-014712-5u4e00q6 313 18 long long JJ cord-014712-5u4e00q6 313 19 arm arm NN cord-014712-5u4e00q6 313 20 of of IN cord-014712-5u4e00q6 313 21 chromosome chromosome NN cord-014712-5u4e00q6 313 22 12 12 CD cord-014712-5u4e00q6 313 23 ( ( -LRB- cord-014712-5u4e00q6 313 24 12q24 12q24 CD cord-014712-5u4e00q6 313 25 ) ) -RRB- cord-014712-5u4e00q6 313 26 . . . cord-014712-5u4e00q6 314 1 It -PRON- PRP cord-014712-5u4e00q6 314 2 is be VBZ cord-014712-5u4e00q6 314 3 manifested manifest VBN cord-014712-5u4e00q6 314 4 by by IN cord-014712-5u4e00q6 314 5 cyclic cyclic JJ cord-014712-5u4e00q6 314 6 attacks attack NNS cord-014712-5u4e00q6 314 7 of of IN cord-014712-5u4e00q6 314 8 fever fever NN cord-014712-5u4e00q6 314 9 initiated initiate VBN cord-014712-5u4e00q6 314 10 usually usually RB cord-014712-5u4e00q6 314 11 during during IN cord-014712-5u4e00q6 314 12 first first JJ cord-014712-5u4e00q6 314 13 year year NN cord-014712-5u4e00q6 314 14 of of IN cord-014712-5u4e00q6 314 15 age age NN cord-014712-5u4e00q6 314 16 . . . cord-014712-5u4e00q6 315 1 The the DT cord-014712-5u4e00q6 315 2 frequency frequency NN cord-014712-5u4e00q6 315 3 and and CC cord-014712-5u4e00q6 315 4 severity severity NN cord-014712-5u4e00q6 315 5 of of IN cord-014712-5u4e00q6 315 6 attacks attack NNS cord-014712-5u4e00q6 315 7 tend tend VBP cord-014712-5u4e00q6 315 8 to to TO cord-014712-5u4e00q6 315 9 decrease decrease VB cord-014712-5u4e00q6 315 10 later later RB cord-014712-5u4e00q6 315 11 in in IN cord-014712-5u4e00q6 315 12 life life NN cord-014712-5u4e00q6 315 13 . . . cord-014712-5u4e00q6 316 1 Materials material NNS cord-014712-5u4e00q6 316 2 and and CC cord-014712-5u4e00q6 316 3 method method NN cord-014712-5u4e00q6 316 4 : : : cord-014712-5u4e00q6 316 5 A a DT cord-014712-5u4e00q6 316 6 retrospective retrospective JJ cord-014712-5u4e00q6 316 7 analysis analysis NN cord-014712-5u4e00q6 316 8 of of IN cord-014712-5u4e00q6 316 9 medical medical JJ cord-014712-5u4e00q6 316 10 history history NN cord-014712-5u4e00q6 316 11 , , , cord-014712-5u4e00q6 316 12 clinical clinical JJ cord-014712-5u4e00q6 316 13 course course NN cord-014712-5u4e00q6 316 14 and and CC cord-014712-5u4e00q6 316 15 laboratory laboratory NN cord-014712-5u4e00q6 316 16 findings finding NNS cord-014712-5u4e00q6 316 17 of of IN cord-014712-5u4e00q6 316 18 two two CD cord-014712-5u4e00q6 316 19 Albanian albanian JJ cord-014712-5u4e00q6 316 20 children child NNS cord-014712-5u4e00q6 316 21 with with IN cord-014712-5u4e00q6 316 22 periodic periodic JJ cord-014712-5u4e00q6 316 23 fever fever NN cord-014712-5u4e00q6 316 24 , , , cord-014712-5u4e00q6 316 25 diagnosed diagnose VBN cord-014712-5u4e00q6 316 26 with with IN cord-014712-5u4e00q6 316 27 hyper hyper JJ cord-014712-5u4e00q6 316 28 IgD IgD NNP cord-014712-5u4e00q6 316 29 syndrome syndrome NN cord-014712-5u4e00q6 316 30 . . . cord-014712-5u4e00q6 317 1 Results result NNS cord-014712-5u4e00q6 317 2 : : : cord-014712-5u4e00q6 318 1 Case case NN cord-014712-5u4e00q6 318 2 presentation presentation NN cord-014712-5u4e00q6 318 3 1 1 CD cord-014712-5u4e00q6 318 4 : : : cord-014712-5u4e00q6 319 1 An an DT cord-014712-5u4e00q6 319 2 5-year 5-year CD cord-014712-5u4e00q6 319 3 - - HYPH cord-014712-5u4e00q6 319 4 old old JJ cord-014712-5u4e00q6 319 5 boy boy NN cord-014712-5u4e00q6 319 6 admitted admit VBD cord-014712-5u4e00q6 319 7 to to IN cord-014712-5u4e00q6 319 8 the the DT cord-014712-5u4e00q6 319 9 hospital hospital NN cord-014712-5u4e00q6 319 10 because because IN cord-014712-5u4e00q6 319 11 of of IN cord-014712-5u4e00q6 319 12 periodic periodic JJ cord-014712-5u4e00q6 319 13 fever fever NN cord-014712-5u4e00q6 319 14 spikes spike NNS cord-014712-5u4e00q6 319 15 , , , cord-014712-5u4e00q6 319 16 which which WDT cord-014712-5u4e00q6 319 17 occurred occur VBD cord-014712-5u4e00q6 319 18 every every DT cord-014712-5u4e00q6 319 19 3 3 CD cord-014712-5u4e00q6 319 20 - - SYM cord-014712-5u4e00q6 319 21 4 4 CD cord-014712-5u4e00q6 319 22 weeks week NNS cord-014712-5u4e00q6 319 23 and and CC cord-014712-5u4e00q6 319 24 lasted last VBD cord-014712-5u4e00q6 319 25 3 3 CD cord-014712-5u4e00q6 319 26 - - SYM cord-014712-5u4e00q6 319 27 5 5 CD cord-014712-5u4e00q6 319 28 days day NNS cord-014712-5u4e00q6 319 29 , , , cord-014712-5u4e00q6 319 30 presented present VBN cord-014712-5u4e00q6 319 31 since since IN cord-014712-5u4e00q6 319 32 the the DT cord-014712-5u4e00q6 319 33 first first JJ cord-014712-5u4e00q6 319 34 year year NN cord-014712-5u4e00q6 319 35 of of IN cord-014712-5u4e00q6 319 36 life life NN cord-014712-5u4e00q6 319 37 and and CC cord-014712-5u4e00q6 319 38 coincided coincide VBD cord-014712-5u4e00q6 319 39 with with IN cord-014712-5u4e00q6 319 40 the the DT cord-014712-5u4e00q6 319 41 beginning beginning NN cord-014712-5u4e00q6 319 42 of of IN cord-014712-5u4e00q6 319 43 immunization immunization NN cord-014712-5u4e00q6 319 44 . . . cord-014712-5u4e00q6 320 1 He -PRON- PRP cord-014712-5u4e00q6 320 2 had have VBD cord-014712-5u4e00q6 320 3 a a DT cord-014712-5u4e00q6 320 4 tonsillectomy tonsillectomy NN cord-014712-5u4e00q6 320 5 and and CC cord-014712-5u4e00q6 320 6 adenoidectomy adenoidectomy NN cord-014712-5u4e00q6 320 7 at at IN cord-014712-5u4e00q6 320 8 the the DT cord-014712-5u4e00q6 320 9 age age NN cord-014712-5u4e00q6 320 10 of of IN cord-014712-5u4e00q6 320 11 3 3 CD cord-014712-5u4e00q6 320 12 . . . cord-014712-5u4e00q6 321 1 The the DT cord-014712-5u4e00q6 321 2 fever fever NN cord-014712-5u4e00q6 321 3 attacks attack NNS cord-014712-5u4e00q6 321 4 were be VBD cord-014712-5u4e00q6 321 5 associated associate VBN cord-014712-5u4e00q6 321 6 with with IN cord-014712-5u4e00q6 321 7 chills chill NNS cord-014712-5u4e00q6 321 8 , , , cord-014712-5u4e00q6 321 9 malaise malaise NN cord-014712-5u4e00q6 321 10 , , , cord-014712-5u4e00q6 321 11 and and CC cord-014712-5u4e00q6 321 12 abdominal abdominal JJ cord-014712-5u4e00q6 321 13 pain pain NN cord-014712-5u4e00q6 321 14 without without IN cord-014712-5u4e00q6 321 15 gastrointestinal gastrointestinal JJ cord-014712-5u4e00q6 321 16 signs sign NNS cord-014712-5u4e00q6 321 17 . . . cord-014712-5u4e00q6 322 1 Between between IN cord-014712-5u4e00q6 322 2 attacks attack NNS cord-014712-5u4e00q6 322 3 the the DT cord-014712-5u4e00q6 322 4 patient patient NN cord-014712-5u4e00q6 322 5 was be VBD cord-014712-5u4e00q6 322 6 free free JJ cord-014712-5u4e00q6 322 7 of of IN cord-014712-5u4e00q6 322 8 symptoms symptom NNS cord-014712-5u4e00q6 322 9 . . . cord-014712-5u4e00q6 323 1 From from IN cord-014712-5u4e00q6 323 2 his -PRON- PRP$ cord-014712-5u4e00q6 323 3 family family NN cord-014712-5u4e00q6 323 4 history history NN cord-014712-5u4e00q6 323 5 , , , cord-014712-5u4e00q6 323 6 recurrent recurrent JJ cord-014712-5u4e00q6 323 7 febrile febrile JJ cord-014712-5u4e00q6 323 8 episodes episode NNS cord-014712-5u4e00q6 323 9 during during IN cord-014712-5u4e00q6 323 10 childhood childhood NN cord-014712-5u4e00q6 323 11 were be VBD cord-014712-5u4e00q6 323 12 reported report VBN cord-014712-5u4e00q6 323 13 to to IN cord-014712-5u4e00q6 323 14 his -PRON- PRP$ cord-014712-5u4e00q6 323 15 father father NN cord-014712-5u4e00q6 323 16 . . . cord-014712-5u4e00q6 324 1 Physical physical JJ cord-014712-5u4e00q6 324 2 examination examination NN cord-014712-5u4e00q6 324 3 showed show VBD cord-014712-5u4e00q6 324 4 normal normal JJ cord-014712-5u4e00q6 324 5 findings finding NNS cord-014712-5u4e00q6 324 6 , , , cord-014712-5u4e00q6 324 7 except except IN cord-014712-5u4e00q6 324 8 for for IN cord-014712-5u4e00q6 324 9 a a DT cord-014712-5u4e00q6 324 10 cervical cervical JJ cord-014712-5u4e00q6 324 11 lymphadenopathy lymphadenopathy NN cord-014712-5u4e00q6 324 12 . . . cord-014712-5u4e00q6 325 1 Laboratory laboratory NN cord-014712-5u4e00q6 325 2 : : : cord-014712-5u4e00q6 326 1 Marked marked JJ cord-014712-5u4e00q6 326 2 increase increase NN cord-014712-5u4e00q6 326 3 of of IN cord-014712-5u4e00q6 326 4 erythrocyte erythrocyte NN cord-014712-5u4e00q6 326 5 sedimentation sedimentation NN cord-014712-5u4e00q6 326 6 rate rate NN cord-014712-5u4e00q6 326 7 and and CC cord-014712-5u4e00q6 326 8 CRP crp NN cord-014712-5u4e00q6 326 9 . . . cord-014712-5u4e00q6 327 1 WBC WBC NNP cord-014712-5u4e00q6 327 2 - - HYPH cord-014712-5u4e00q6 327 3 ranged range VBD cord-014712-5u4e00q6 327 4 from from IN cord-014712-5u4e00q6 327 5 5.710 5.710 CD cord-014712-5u4e00q6 327 6 to to TO cord-014712-5u4e00q6 327 7 12 12 CD cord-014712-5u4e00q6 327 8 000 000 CD cord-014712-5u4e00q6 327 9 / / SYM cord-014712-5u4e00q6 327 10 mm mm NN cord-014712-5u4e00q6 327 11 3 3 CD cord-014712-5u4e00q6 327 12 . . . cord-014712-5u4e00q6 328 1 , , , cord-014712-5u4e00q6 328 2 high high JJ cord-014712-5u4e00q6 328 3 ASTO ASTO NNP cord-014712-5u4e00q6 328 4 . . . cord-014712-5u4e00q6 329 1 Serum serum NN cord-014712-5u4e00q6 329 2 IgD igd NN cord-014712-5u4e00q6 329 3 was be VBD cord-014712-5u4e00q6 329 4 repeated repeat VBN cord-014712-5u4e00q6 329 5 several several JJ cord-014712-5u4e00q6 329 6 times time NNS cord-014712-5u4e00q6 329 7 and and CC cord-014712-5u4e00q6 329 8 was be VBD cord-014712-5u4e00q6 329 9 always always RB cord-014712-5u4e00q6 329 10 elevated elevated JJ cord-014712-5u4e00q6 329 11 ( ( -LRB- cord-014712-5u4e00q6 329 12 mean mean JJ cord-014712-5u4e00q6 329 13 value value NN cord-014712-5u4e00q6 329 14 : : : cord-014712-5u4e00q6 329 15 Serum serum NN cord-014712-5u4e00q6 329 16 IgD igd NN cord-014712-5u4e00q6 329 17 122 122 CD cord-014712-5u4e00q6 329 18 IU IU NNP cord-014712-5u4e00q6 329 19 / / SYM cord-014712-5u4e00q6 329 20 mL mL NNP cord-014712-5u4e00q6 329 21 ) ) -RRB- cord-014712-5u4e00q6 329 22 . . . cord-014712-5u4e00q6 330 1 The the DT cord-014712-5u4e00q6 330 2 mutation mutation NN cord-014712-5u4e00q6 330 3 V377I v377i NN cord-014712-5u4e00q6 330 4 is be VBZ cord-014712-5u4e00q6 330 5 found find VBN cord-014712-5u4e00q6 330 6 from from IN cord-014712-5u4e00q6 330 7 the the DT cord-014712-5u4e00q6 330 8 genetic genetic JJ cord-014712-5u4e00q6 330 9 examination examination NN cord-014712-5u4e00q6 330 10 done do VBN cord-014712-5u4e00q6 330 11 for for IN cord-014712-5u4e00q6 330 12 gene gene NN cord-014712-5u4e00q6 330 13 mutations mutation NNS cord-014712-5u4e00q6 330 14 in in IN cord-014712-5u4e00q6 330 15 chromosome chromosome NN cord-014712-5u4e00q6 330 16 12 12 CD cord-014712-5u4e00q6 330 17 ( ( -LRB- cord-014712-5u4e00q6 330 18 12q24 12q24 CD cord-014712-5u4e00q6 330 19 ) ) -RRB- cord-014712-5u4e00q6 330 20 . . . cord-014712-5u4e00q6 331 1 He -PRON- PRP cord-014712-5u4e00q6 331 2 repeated repeat VBD cord-014712-5u4e00q6 331 3 attacks attack NNS cord-014712-5u4e00q6 331 4 after after IN cord-014712-5u4e00q6 331 5 initial initial JJ cord-014712-5u4e00q6 331 6 treatment treatment NN cord-014712-5u4e00q6 331 7 with with IN cord-014712-5u4e00q6 331 8 corticosteroid corticosteroid NN cord-014712-5u4e00q6 331 9 , , , cord-014712-5u4e00q6 331 10 than than IN cord-014712-5u4e00q6 331 11 is be VBZ cord-014712-5u4e00q6 331 12 suggested suggest VBN cord-014712-5u4e00q6 331 13 . . . cord-014712-5u4e00q6 332 1 The the DT cord-014712-5u4e00q6 332 2 second second JJ cord-014712-5u4e00q6 332 3 case case NN cord-014712-5u4e00q6 332 4 was be VBD cord-014712-5u4e00q6 332 5 a a DT cord-014712-5u4e00q6 332 6 four four CD cord-014712-5u4e00q6 332 7 - - HYPH cord-014712-5u4e00q6 332 8 year year NN cord-014712-5u4e00q6 332 9 - - HYPH cord-014712-5u4e00q6 332 10 old old JJ cord-014712-5u4e00q6 332 11 girl girl NN cord-014712-5u4e00q6 332 12 hospitalized hospitalize VBD cord-014712-5u4e00q6 332 13 five five CD cord-014712-5u4e00q6 332 14 times time NNS cord-014712-5u4e00q6 332 15 because because IN cord-014712-5u4e00q6 332 16 of of IN cord-014712-5u4e00q6 332 17 prolonged prolonged JJ cord-014712-5u4e00q6 332 18 fever fever NN cord-014712-5u4e00q6 332 19 , , , cord-014712-5u4e00q6 332 20 and and CC cord-014712-5u4e00q6 332 21 diagnosed diagnose VBD cord-014712-5u4e00q6 332 22 as as IN cord-014712-5u4e00q6 332 23 pneumonia pneumonia NN cord-014712-5u4e00q6 332 24 , , , cord-014712-5u4e00q6 332 25 tonsillitis tonsillitis NN cord-014712-5u4e00q6 332 26 , , , cord-014712-5u4e00q6 332 27 acute acute JJ cord-014712-5u4e00q6 332 28 otitis otitis NN cord-014712-5u4e00q6 332 29 media medium NNS cord-014712-5u4e00q6 332 30 and and CC cord-014712-5u4e00q6 332 31 sinusitis sinusitis NN cord-014712-5u4e00q6 332 32 , , , cord-014712-5u4e00q6 332 33 treated treat VBN cord-014712-5u4e00q6 332 34 by by IN cord-014712-5u4e00q6 332 35 antibiotics antibiotic NNS cord-014712-5u4e00q6 332 36 . . . cord-014712-5u4e00q6 333 1 Her -PRON- PRP$ cord-014712-5u4e00q6 333 2 laboratory laboratory NN cord-014712-5u4e00q6 333 3 findings finding NNS cord-014712-5u4e00q6 333 4 were be VBD cord-014712-5u4e00q6 333 5 not not RB cord-014712-5u4e00q6 333 6 remarkable remarkable JJ cord-014712-5u4e00q6 333 7 except except IN cord-014712-5u4e00q6 333 8 for for IN cord-014712-5u4e00q6 333 9 increased increase VBN cord-014712-5u4e00q6 333 10 acute acute JJ cord-014712-5u4e00q6 333 11 inflammatory inflammatory JJ cord-014712-5u4e00q6 333 12 responses response NNS cord-014712-5u4e00q6 333 13 . . . cord-014712-5u4e00q6 334 1 Serum serum NN cord-014712-5u4e00q6 334 2 Amyloid Amyloid NNP cord-014712-5u4e00q6 334 3 A A NNP cord-014712-5u4e00q6 334 4 ( ( -LRB- cord-014712-5u4e00q6 334 5 SAA SAA NNP cord-014712-5u4e00q6 334 6 ) ) -RRB- cord-014712-5u4e00q6 334 7 1100 1100 CD cord-014712-5u4e00q6 335 1 μg/ μg/ NNP cord-014712-5u4e00q6 336 1 l l NNP cord-014712-5u4e00q6 336 2 ( ( -LRB- cord-014712-5u4e00q6 336 3 8 8 CD cord-014712-5u4e00q6 336 4 μg μg NNP cord-014712-5u4e00q6 336 5 / / SYM cord-014712-5u4e00q6 336 6 l l NNP cord-014712-5u4e00q6 336 7 ) ) -RRB- cord-014712-5u4e00q6 336 8 and and CC cord-014712-5u4e00q6 336 9 IgD IgD NNP cord-014712-5u4e00q6 336 10 was be VBD cord-014712-5u4e00q6 336 11 extremely extremely RB cord-014712-5u4e00q6 336 12 high high JJ cord-014712-5u4e00q6 336 13 181.9 181.9 CD cord-014712-5u4e00q6 336 14 IU IU NNP cord-014712-5u4e00q6 336 15 / / , cord-014712-5u4e00q6 336 16 ml ml NN cord-014712-5u4e00q6 336 17 . . . cord-014712-5u4e00q6 337 1 Genetic genetic JJ cord-014712-5u4e00q6 337 2 examination examination NN cord-014712-5u4e00q6 337 3 for for IN cord-014712-5u4e00q6 337 4 two two CD cord-014712-5u4e00q6 337 5 mutations mutation NNS cord-014712-5u4e00q6 337 6 were be VBD cord-014712-5u4e00q6 337 7 negative negative JJ cord-014712-5u4e00q6 337 8 , , , cord-014712-5u4e00q6 337 9 but but CC cord-014712-5u4e00q6 337 10 reduced reduce VBN cord-014712-5u4e00q6 337 11 mevalonate mevalonate NN cord-014712-5u4e00q6 337 12 kinase kinase NN cord-014712-5u4e00q6 337 13 activity activity NN cord-014712-5u4e00q6 337 14 in in IN cord-014712-5u4e00q6 337 15 white white JJ cord-014712-5u4e00q6 337 16 blood blood NN cord-014712-5u4e00q6 337 17 cells cell NNS cord-014712-5u4e00q6 337 18 was be VBD cord-014712-5u4e00q6 337 19 demonstrated demonstrate VBN cord-014712-5u4e00q6 337 20 in in IN cord-014712-5u4e00q6 337 21 more more RBR cord-014712-5u4e00q6 337 22 thorough thorough JJ cord-014712-5u4e00q6 337 23 investigations investigation NNS cord-014712-5u4e00q6 337 24 . . . cord-014712-5u4e00q6 338 1 Treatment treatment NN cord-014712-5u4e00q6 338 2 regime regime NN cord-014712-5u4e00q6 338 3 : : : cord-014712-5u4e00q6 339 1 colchicine colchicine NNP cord-014712-5u4e00q6 339 2 Conclusions Conclusions NNPS cord-014712-5u4e00q6 339 3 : : : cord-014712-5u4e00q6 340 1 Auto auto NN cord-014712-5u4e00q6 340 2 inflammatory inflammatory JJ cord-014712-5u4e00q6 340 3 syndromes syndrome NNS cord-014712-5u4e00q6 340 4 always always RB cord-014712-5u4e00q6 340 5 pose pose VBP cord-014712-5u4e00q6 340 6 diagnostic diagnostic JJ cord-014712-5u4e00q6 340 7 and and CC cord-014712-5u4e00q6 340 8 therapeutic therapeutic JJ cord-014712-5u4e00q6 340 9 challenges challenge NNS cord-014712-5u4e00q6 340 10 to to IN cord-014712-5u4e00q6 340 11 the the DT cord-014712-5u4e00q6 340 12 clinicians clinician NNS cord-014712-5u4e00q6 340 13 . . . cord-014712-5u4e00q6 341 1 The the DT cord-014712-5u4e00q6 341 2 clinical clinical JJ cord-014712-5u4e00q6 341 3 description description NN cord-014712-5u4e00q6 341 4 of of IN cord-014712-5u4e00q6 341 5 the the DT cord-014712-5u4e00q6 341 6 diversity diversity NN cord-014712-5u4e00q6 341 7 of of IN cord-014712-5u4e00q6 341 8 periodic periodic JJ cord-014712-5u4e00q6 341 9 fever fever NN cord-014712-5u4e00q6 341 10 syndromes syndrome NNS cord-014712-5u4e00q6 341 11 is be VBZ cord-014712-5u4e00q6 341 12 helpful helpful JJ cord-014712-5u4e00q6 341 13 in in IN cord-014712-5u4e00q6 341 14 the the DT cord-014712-5u4e00q6 341 15 assessment assessment NN cord-014712-5u4e00q6 341 16 and and CC cord-014712-5u4e00q6 341 17 management management NN cord-014712-5u4e00q6 341 18 of of IN cord-014712-5u4e00q6 341 19 these these DT cord-014712-5u4e00q6 341 20 patients patient NNS cord-014712-5u4e00q6 341 21 . . . cord-014712-5u4e00q6 342 1 Although although IN cord-014712-5u4e00q6 342 2 HIDS HIDS NNP cord-014712-5u4e00q6 342 3 is be VBZ cord-014712-5u4e00q6 342 4 predominantly predominantly RB cord-014712-5u4e00q6 342 5 identified identify VBN cord-014712-5u4e00q6 342 6 in in IN cord-014712-5u4e00q6 342 7 populations population NNS cord-014712-5u4e00q6 342 8 from from IN cord-014712-5u4e00q6 342 9 northern northern JJ cord-014712-5u4e00q6 342 10 European european JJ cord-014712-5u4e00q6 342 11 areas area NNS cord-014712-5u4e00q6 342 12 , , , cord-014712-5u4e00q6 342 13 it -PRON- PRP cord-014712-5u4e00q6 342 14 has have VBZ cord-014712-5u4e00q6 342 15 to to TO cord-014712-5u4e00q6 342 16 be be VB cord-014712-5u4e00q6 342 17 considered consider VBN cord-014712-5u4e00q6 342 18 in in IN cord-014712-5u4e00q6 342 19 children child NNS cord-014712-5u4e00q6 342 20 with with IN cord-014712-5u4e00q6 342 21 periodic periodic JJ cord-014712-5u4e00q6 342 22 fever fever NN cord-014712-5u4e00q6 342 23 . . . cord-014712-5u4e00q6 343 1 Anastasiia Anastasiia NNP cord-014712-5u4e00q6 343 2 Bondarenko Bondarenko NNP cord-014712-5u4e00q6 343 3 1 1 CD cord-014712-5u4e00q6 343 4 ; ; : cord-014712-5u4e00q6 343 5 Liudmyla Liudmyla NNP cord-014712-5u4e00q6 343 6 Chernyshova Chernyshova NNP cord-014712-5u4e00q6 343 7 1 1 CD cord-014712-5u4e00q6 343 8 ; ; : cord-014712-5u4e00q6 344 1 Iryna Iryna NNP cord-014712-5u4e00q6 344 2 Sychova Sychova NNP cord-014712-5u4e00q6 344 3 2 2 CD cord-014712-5u4e00q6 344 4 1 1 CD cord-014712-5u4e00q6 344 5 Shupik Shupik NNP cord-014712-5u4e00q6 344 6 National National NNP cord-014712-5u4e00q6 344 7 Medical Medical NNP cord-014712-5u4e00q6 344 8 Academy Academy NNP cord-014712-5u4e00q6 344 9 of of IN cord-014712-5u4e00q6 344 10 Postgraduate Postgraduate NNP cord-014712-5u4e00q6 344 11 Education Education NNP cord-014712-5u4e00q6 344 12 , , , cord-014712-5u4e00q6 344 13 Kiev Kiev NNP cord-014712-5u4e00q6 344 14 , , , cord-014712-5u4e00q6 344 15 Ukraine Ukraine NNP cord-014712-5u4e00q6 344 16 . . . cord-014712-5u4e00q6 345 1 2 2 LS cord-014712-5u4e00q6 346 1 Dniepropetrovsk Dniepropetrovsk NNP cord-014712-5u4e00q6 346 2 Regional Regional NNP cord-014712-5u4e00q6 346 3 Children Children NNPS cord-014712-5u4e00q6 346 4 's 's POS cord-014712-5u4e00q6 346 5 Hospital Hospital NNP cord-014712-5u4e00q6 346 6 , , , cord-014712-5u4e00q6 346 7 Dniepropetrovsk Dniepropetrovsk NNP cord-014712-5u4e00q6 346 8 , , , cord-014712-5u4e00q6 346 9 Ukraine Ukraine NNP cord-014712-5u4e00q6 346 10 . . . cord-014712-5u4e00q6 347 1 Background background NN cord-014712-5u4e00q6 347 2 . . . cord-014712-5u4e00q6 348 1 Aspergillus aspergillus NN cord-014712-5u4e00q6 348 2 is be VBZ cord-014712-5u4e00q6 348 3 an an DT cord-014712-5u4e00q6 348 4 actual actual JJ cord-014712-5u4e00q6 348 5 pathogen pathogen NN cord-014712-5u4e00q6 348 6 in in IN cord-014712-5u4e00q6 348 7 chronic chronic JJ cord-014712-5u4e00q6 348 8 granulomatous granulomatous JJ cord-014712-5u4e00q6 348 9 disease disease NN cord-014712-5u4e00q6 348 10 responsible responsible JJ cord-014712-5u4e00q6 348 11 for for IN cord-014712-5u4e00q6 348 12 about about RB cord-014712-5u4e00q6 348 13 20 20 CD cord-014712-5u4e00q6 348 14 % % NN cord-014712-5u4e00q6 348 15 of of IN cord-014712-5u4e00q6 348 16 all all DT cord-014712-5u4e00q6 348 17 infections infection NNS cord-014712-5u4e00q6 348 18 . . . cord-014712-5u4e00q6 349 1 In in IN cord-014712-5u4e00q6 349 2 70 70 CD cord-014712-5u4e00q6 349 3 - - SYM cord-014712-5u4e00q6 349 4 80 80 CD cord-014712-5u4e00q6 349 5 % % NN cord-014712-5u4e00q6 349 6 lungs lung NNS cord-014712-5u4e00q6 349 7 are be VBP cord-014712-5u4e00q6 349 8 involved involve VBN cord-014712-5u4e00q6 349 9 and and CC cord-014712-5u4e00q6 349 10 in in IN cord-014712-5u4e00q6 349 11 5 5 CD cord-014712-5u4e00q6 349 12 % % NN cord-014712-5u4e00q6 349 13 -CNS -cns NN cord-014712-5u4e00q6 349 14 . . . cord-014712-5u4e00q6 350 1 Case case NN cord-014712-5u4e00q6 350 2 . . . cord-014712-5u4e00q6 351 1 We -PRON- PRP cord-014712-5u4e00q6 351 2 report report VBP cord-014712-5u4e00q6 351 3 a a DT cord-014712-5u4e00q6 351 4 case case NN cord-014712-5u4e00q6 351 5 of of IN cord-014712-5u4e00q6 351 6 combined combined JJ cord-014712-5u4e00q6 351 7 loci locus NNS cord-014712-5u4e00q6 351 8 in in IN cord-014712-5u4e00q6 351 9 9-years 9-years CD cord-014712-5u4e00q6 351 10 old old JJ cord-014712-5u4e00q6 351 11 female female JJ cord-014712-5u4e00q6 351 12 patient patient NN cord-014712-5u4e00q6 351 13 with with IN cord-014712-5u4e00q6 351 14 AR AR NNP cord-014712-5u4e00q6 351 15 CGD CGD NNP cord-014712-5u4e00q6 351 16 . . . cord-014712-5u4e00q6 352 1 The the DT cord-014712-5u4e00q6 352 2 child child NN cord-014712-5u4e00q6 352 3 was be VBD cord-014712-5u4e00q6 352 4 born bear VBN cord-014712-5u4e00q6 352 5 from from IN cord-014712-5u4e00q6 352 6 III iii CD cord-014712-5u4e00q6 352 7 pregnancy pregnancy NN cord-014712-5u4e00q6 352 8 , , , cord-014712-5u4e00q6 352 9 II II NNP cord-014712-5u4e00q6 352 10 delivery delivery NN cord-014712-5u4e00q6 352 11 on on IN cord-014712-5u4e00q6 352 12 37 37 CD cord-014712-5u4e00q6 352 13 th th CD cord-014712-5u4e00q6 352 14 week week NN cord-014712-5u4e00q6 352 15 of of IN cord-014712-5u4e00q6 352 16 gestation gestation NN cord-014712-5u4e00q6 352 17 with with IN cord-014712-5u4e00q6 352 18 body body NN cord-014712-5u4e00q6 352 19 mass mass NNP cord-014712-5u4e00q6 352 20 2750 2750 CD cord-014712-5u4e00q6 352 21 g g NN cord-014712-5u4e00q6 352 22 . . . cord-014712-5u4e00q6 353 1 She -PRON- PRP cord-014712-5u4e00q6 353 2 received receive VBD cord-014712-5u4e00q6 353 3 BCG BCG NNP cord-014712-5u4e00q6 353 4 vaccination vaccination NN cord-014712-5u4e00q6 353 5 at at IN cord-014712-5u4e00q6 353 6 4 4 CD cord-014712-5u4e00q6 353 7 -th -th CD cord-014712-5u4e00q6 353 8 day day NN cord-014712-5u4e00q6 353 9 of of IN cord-014712-5u4e00q6 353 10 birth birth NN cord-014712-5u4e00q6 353 11 . . . cord-014712-5u4e00q6 354 1 At at IN cord-014712-5u4e00q6 354 2 3 3 CD cord-014712-5u4e00q6 354 3 months month NNS cord-014712-5u4e00q6 354 4 the the DT cord-014712-5u4e00q6 354 5 local local JJ cord-014712-5u4e00q6 354 6 inflammation inflammation NN cord-014712-5u4e00q6 354 7 in in IN cord-014712-5u4e00q6 354 8 site site NN cord-014712-5u4e00q6 354 9 of of IN cord-014712-5u4e00q6 354 10 BCG BCG NNP cord-014712-5u4e00q6 354 11 with with IN cord-014712-5u4e00q6 354 12 regional regional JJ cord-014712-5u4e00q6 354 13 lymphadenitis lymphadenitis NNP cord-014712-5u4e00q6 354 14 developed develop VBD cord-014712-5u4e00q6 354 15 which which WDT cord-014712-5u4e00q6 354 16 was be VBD cord-014712-5u4e00q6 354 17 treated treat VBN cord-014712-5u4e00q6 354 18 with with IN cord-014712-5u4e00q6 354 19 isoniazid isoniazid NN cord-014712-5u4e00q6 354 20 for for IN cord-014712-5u4e00q6 354 21 3 3 CD cord-014712-5u4e00q6 354 22 months month NNS cord-014712-5u4e00q6 354 23 . . . cord-014712-5u4e00q6 355 1 Then then RB cord-014712-5u4e00q6 355 2 bilateral bilateral JJ cord-014712-5u4e00q6 355 3 purulent purulent JJ cord-014712-5u4e00q6 355 4 cervical cervical JJ cord-014712-5u4e00q6 355 5 lymphadenitis lymphadenitis NN cord-014712-5u4e00q6 355 6 developed develop VBN cord-014712-5u4e00q6 355 7 at at IN cord-014712-5u4e00q6 355 8 6 6 CD cord-014712-5u4e00q6 355 9 , , , cord-014712-5u4e00q6 355 10 9 9 CD cord-014712-5u4e00q6 355 11 and and CC cord-014712-5u4e00q6 355 12 11 11 CD cord-014712-5u4e00q6 355 13 months month NNS cord-014712-5u4e00q6 355 14 treated treat VBN cord-014712-5u4e00q6 355 15 with with IN cord-014712-5u4e00q6 355 16 wide wide JJ cord-014712-5u4e00q6 355 17 spectrum spectrum NN cord-014712-5u4e00q6 355 18 antibiotics antibiotic NNS cord-014712-5u4e00q6 355 19 . . . cord-014712-5u4e00q6 356 1 Culture culture NN cord-014712-5u4e00q6 356 2 from from IN cord-014712-5u4e00q6 356 3 pus pus NN cord-014712-5u4e00q6 356 4 was be VBD cord-014712-5u4e00q6 356 5 negative negative JJ cord-014712-5u4e00q6 356 6 . . . cord-014712-5u4e00q6 357 1 PCR PCR NNP cord-014712-5u4e00q6 357 2 for for IN cord-014712-5u4e00q6 357 3 mycobacterium mycobacterium NNP cord-014712-5u4e00q6 357 4 tuberculosis tuberculosis NN cord-014712-5u4e00q6 357 5 complex complex NNP cord-014712-5u4e00q6 357 6 was be VBD cord-014712-5u4e00q6 357 7 negative negative JJ cord-014712-5u4e00q6 357 8 . . . cord-014712-5u4e00q6 358 1 At18 At18 NNP cord-014712-5u4e00q6 359 1 months month NNS cord-014712-5u4e00q6 359 2 systemic systemic JJ cord-014712-5u4e00q6 359 3 infection infection NN cord-014712-5u4e00q6 359 4 without without IN cord-014712-5u4e00q6 359 5 loci locus NNS cord-014712-5u4e00q6 359 6 occurred occur VBD cord-014712-5u4e00q6 359 7 with with IN cord-014712-5u4e00q6 359 8 fever fever NN cord-014712-5u4e00q6 359 9 , , , cord-014712-5u4e00q6 359 10 lymphadenopathy lymphadenopathy JJ cord-014712-5u4e00q6 359 11 , , , cord-014712-5u4e00q6 359 12 hepatosplenomegaly hepatosplenomegaly NNP cord-014712-5u4e00q6 359 13 , , , cord-014712-5u4e00q6 359 14 loss loss NN cord-014712-5u4e00q6 359 15 of of IN cord-014712-5u4e00q6 359 16 weight weight NN cord-014712-5u4e00q6 359 17 , , , cord-014712-5u4e00q6 359 18 progressive progressive JJ cord-014712-5u4e00q6 359 19 anemia anemia NN cord-014712-5u4e00q6 359 20 , , , cord-014712-5u4e00q6 359 21 inflammatory inflammatory JJ cord-014712-5u4e00q6 359 22 changes change NNS cord-014712-5u4e00q6 359 23 in in IN cord-014712-5u4e00q6 359 24 blood blood NN cord-014712-5u4e00q6 359 25 for for IN cord-014712-5u4e00q6 359 26 almost almost RB cord-014712-5u4e00q6 359 27 6 6 CD cord-014712-5u4e00q6 359 28 months month NNS cord-014712-5u4e00q6 359 29 . . . cord-014712-5u4e00q6 360 1 Bacteriological bacteriological JJ cord-014712-5u4e00q6 360 2 cultures culture NNS cord-014712-5u4e00q6 360 3 were be VBD cord-014712-5u4e00q6 360 4 negative negative JJ cord-014712-5u4e00q6 360 5 . . . cord-014712-5u4e00q6 361 1 Treatment treatment NN cord-014712-5u4e00q6 361 2 with with IN cord-014712-5u4e00q6 361 3 wide wide JJ cord-014712-5u4e00q6 361 4 spectrum spectrum NN cord-014712-5u4e00q6 361 5 antibiotics antibiotic NNS cord-014712-5u4e00q6 361 6 was be VBD cord-014712-5u4e00q6 361 7 insufficient insufficient JJ cord-014712-5u4e00q6 361 8 for for IN cord-014712-5u4e00q6 361 9 3 3 CD cord-014712-5u4e00q6 361 10 months month NNS cord-014712-5u4e00q6 361 11 . . . cord-014712-5u4e00q6 362 1 Disseminated disseminate VBN cord-014712-5u4e00q6 362 2 BCG BCG NNP cord-014712-5u4e00q6 362 3 infection infection NN cord-014712-5u4e00q6 362 4 was be VBD cord-014712-5u4e00q6 362 5 suspected suspect VBN cord-014712-5u4e00q6 362 6 and and CC cord-014712-5u4e00q6 362 7 4-compound 4-compound CD cord-014712-5u4e00q6 362 8 AMB AMB NNP cord-014712-5u4e00q6 362 9 treatment treatment NN cord-014712-5u4e00q6 362 10 was be VBD cord-014712-5u4e00q6 362 11 started start VBN cord-014712-5u4e00q6 362 12 ex ex FW cord-014712-5u4e00q6 362 13 juvantibus juvantibus NN cord-014712-5u4e00q6 362 14 with with IN cord-014712-5u4e00q6 362 15 positive positive JJ cord-014712-5u4e00q6 362 16 effect effect NN cord-014712-5u4e00q6 362 17 : : : cord-014712-5u4e00q6 362 18 the the DT cord-014712-5u4e00q6 362 19 fever fever NN cord-014712-5u4e00q6 362 20 has have VBZ cord-014712-5u4e00q6 362 21 stopped stop VBN cord-014712-5u4e00q6 362 22 , , , cord-014712-5u4e00q6 362 23 the the DT cord-014712-5u4e00q6 362 24 sizes size NNS cord-014712-5u4e00q6 362 25 of of IN cord-014712-5u4e00q6 362 26 lymph lymph NN cord-014712-5u4e00q6 362 27 nodes node NNS cord-014712-5u4e00q6 362 28 , , , cord-014712-5u4e00q6 362 29 liver liver NN cord-014712-5u4e00q6 362 30 and and CC cord-014712-5u4e00q6 362 31 spleen spleen NNS cord-014712-5u4e00q6 362 32 have have VBP cord-014712-5u4e00q6 362 33 decreased decrease VBN cord-014712-5u4e00q6 362 34 , , , cord-014712-5u4e00q6 362 35 the the DT cord-014712-5u4e00q6 362 36 weight weight NN cord-014712-5u4e00q6 362 37 of of IN cord-014712-5u4e00q6 362 38 a a DT cord-014712-5u4e00q6 362 39 body body NN cord-014712-5u4e00q6 362 40 normalized normalize VBN cord-014712-5u4e00q6 362 41 . . . cord-014712-5u4e00q6 363 1 The the DT cord-014712-5u4e00q6 363 2 child child NN cord-014712-5u4e00q6 363 3 suffered suffer VBD cord-014712-5u4e00q6 363 4 from from IN cord-014712-5u4e00q6 363 5 recurrent recurrent JJ cord-014712-5u4e00q6 363 6 pyogenic pyogenic JJ cord-014712-5u4e00q6 363 7 infections infection NNS cord-014712-5u4e00q6 363 8 , , , cord-014712-5u4e00q6 363 9 underwent undergo VBD cord-014712-5u4e00q6 363 10 disseminated disseminate VBN cord-014712-5u4e00q6 363 11 salmonellosis salmonellosis NN cord-014712-5u4e00q6 363 12 . . . cord-014712-5u4e00q6 364 1 At at IN cord-014712-5u4e00q6 364 2 the the DT cord-014712-5u4e00q6 364 3 age age NN cord-014712-5u4e00q6 364 4 of of IN cord-014712-5u4e00q6 364 5 5 5 CD cord-014712-5u4e00q6 364 6 years year NNS cord-014712-5u4e00q6 364 7 blood blood NN cord-014712-5u4e00q6 364 8 samples sample NNS cord-014712-5u4e00q6 364 9 were be VBD cord-014712-5u4e00q6 364 10 tested test VBN cord-014712-5u4e00q6 364 11 at at IN cord-014712-5u4e00q6 364 12 the the DT cord-014712-5u4e00q6 364 13 Laboratory Laboratory NNP cord-014712-5u4e00q6 364 14 of of IN cord-014712-5u4e00q6 364 15 Human Human NNP cord-014712-5u4e00q6 364 16 genetics genetic NNS cord-014712-5u4e00q6 364 17 of of IN cord-014712-5u4e00q6 364 18 Infectious Infectious NNP cord-014712-5u4e00q6 364 19 Diseases Diseases NNPS cord-014712-5u4e00q6 364 20 , , , cord-014712-5u4e00q6 364 21 INSERM INSERM NNP cord-014712-5u4e00q6 364 22 ( ( -LRB- cord-014712-5u4e00q6 364 23 Paris Paris NNP cord-014712-5u4e00q6 364 24 , , , cord-014712-5u4e00q6 364 25 France France NNP cord-014712-5u4e00q6 364 26 ) ) -RRB- cord-014712-5u4e00q6 364 27 . . . cord-014712-5u4e00q6 365 1 An an DT cord-014712-5u4e00q6 365 2 absence absence NN cord-014712-5u4e00q6 365 3 of of IN cord-014712-5u4e00q6 365 4 p22 p22 NN cord-014712-5u4e00q6 365 5 phox phox NNP cord-014712-5u4e00q6 365 6 protein protein NN cord-014712-5u4e00q6 365 7 expression expression NN cord-014712-5u4e00q6 365 8 detected detect VBN cord-014712-5u4e00q6 365 9 by by IN cord-014712-5u4e00q6 365 10 western western JJ cord-014712-5u4e00q6 365 11 blot blot NN cord-014712-5u4e00q6 365 12 conferring confer VBG cord-014712-5u4e00q6 365 13 a a DT cord-014712-5u4e00q6 365 14 complete complete JJ cord-014712-5u4e00q6 365 15 defect defect NN cord-014712-5u4e00q6 365 16 in in IN cord-014712-5u4e00q6 365 17 CYBA CYBA NNP cord-014712-5u4e00q6 365 18 due due IN cord-014712-5u4e00q6 365 19 to to IN cord-014712-5u4e00q6 365 20 compound compound NN cord-014712-5u4e00q6 365 21 of of IN cord-014712-5u4e00q6 365 22 geterozigous geterozigous JJ cord-014712-5u4e00q6 365 23 mutations mutation NNS cord-014712-5u4e00q6 365 24 in in IN cord-014712-5u4e00q6 365 25 16q24 16q24 CD cord-014712-5u4e00q6 365 26 . . . cord-014712-5u4e00q6 366 1 At at IN cord-014712-5u4e00q6 366 2 6 6 CD cord-014712-5u4e00q6 366 3 years year NNS cord-014712-5u4e00q6 366 4 primary primary JJ cord-014712-5u4e00q6 366 5 tuberculosis tuberculosis NN cord-014712-5u4e00q6 366 6 complex complex JJ cord-014712-5u4e00q6 366 7 of of IN cord-014712-5u4e00q6 366 8 right right JJ cord-014712-5u4e00q6 366 9 upper upper JJ cord-014712-5u4e00q6 366 10 lobe lobe NN cord-014712-5u4e00q6 366 11 ( ( -LRB- cord-014712-5u4e00q6 366 12 MBT MBT NNP cord-014712-5u4e00q6 366 13 - - , cord-014712-5u4e00q6 366 14 ) ) -RRB- cord-014712-5u4e00q6 366 15 was be VBD cord-014712-5u4e00q6 366 16 diagnosed diagnose VBN cord-014712-5u4e00q6 366 17 . . . cord-014712-5u4e00q6 367 1 At at IN cord-014712-5u4e00q6 367 2 the the DT cord-014712-5u4e00q6 367 3 age age NN cord-014712-5u4e00q6 367 4 of of IN cord-014712-5u4e00q6 367 5 7 7 CD cord-014712-5u4e00q6 367 6 during during IN cord-014712-5u4e00q6 367 7 the the DT cord-014712-5u4e00q6 367 8 unexplained unexplained JJ cord-014712-5u4e00q6 367 9 fever fever NN cord-014712-5u4e00q6 367 10 multiple multiple JJ cord-014712-5u4e00q6 367 11 formations formation NNS cord-014712-5u4e00q6 367 12 were be VBD cord-014712-5u4e00q6 367 13 identified identify VBN cord-014712-5u4e00q6 367 14 in in IN cord-014712-5u4e00q6 367 15 the the DT cord-014712-5u4e00q6 367 16 liver liver NN cord-014712-5u4e00q6 367 17 , , , cord-014712-5u4e00q6 367 18 biopsy biopsy NNP cord-014712-5u4e00q6 367 19 showed show VBD cord-014712-5u4e00q6 367 20 caseosis caseosis NNP cord-014712-5u4e00q6 367 21 suspected suspect VBD cord-014712-5u4e00q6 367 22 the the DT cord-014712-5u4e00q6 367 23 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 367 24 nature nature NN cord-014712-5u4e00q6 367 25 of of IN cord-014712-5u4e00q6 367 26 lesions lesion NNS cord-014712-5u4e00q6 367 27 but but CC cord-014712-5u4e00q6 367 28 MBT MBT NNP cord-014712-5u4e00q6 367 29 ( ( -LRB- cord-014712-5u4e00q6 367 30 - - : cord-014712-5u4e00q6 367 31 ) ) -RRB- cord-014712-5u4e00q6 367 32 . . . cord-014712-5u4e00q6 368 1 At at IN cord-014712-5u4e00q6 368 2 the the DT cord-014712-5u4e00q6 368 3 age age NN cord-014712-5u4e00q6 368 4 of of IN cord-014712-5u4e00q6 368 5 9 9 CD cord-014712-5u4e00q6 368 6 years year NNS cord-014712-5u4e00q6 368 7 because because IN cord-014712-5u4e00q6 368 8 of of IN cord-014712-5u4e00q6 368 9 shade shade NN cord-014712-5u4e00q6 368 10 in in IN cord-014712-5u4e00q6 368 11 the the DT cord-014712-5u4e00q6 368 12 left left JJ cord-014712-5u4e00q6 368 13 upper upper JJ cord-014712-5u4e00q6 368 14 lobe lobe NN cord-014712-5u4e00q6 368 15 and and CC cord-014712-5u4e00q6 368 16 ineffective ineffective JJ cord-014712-5u4e00q6 368 17 standard standard JJ cord-014712-5u4e00q6 368 18 antibiotic antibiotic JJ cord-014712-5u4e00q6 368 19 treatment treatment NN cord-014712-5u4e00q6 368 20 the the DT cord-014712-5u4e00q6 368 21 tuberculosis tuberculosis NN cord-014712-5u4e00q6 368 22 again again RB cord-014712-5u4e00q6 368 23 was be VBD cord-014712-5u4e00q6 368 24 suspected suspect VBN cord-014712-5u4e00q6 368 25 . . . cord-014712-5u4e00q6 369 1 Due due IN cord-014712-5u4e00q6 369 2 to to IN cord-014712-5u4e00q6 369 3 ineffective ineffective JJ cord-014712-5u4e00q6 369 4 antimycobacterial antimycobacterial JJ cord-014712-5u4e00q6 369 5 treatment treatment NN cord-014712-5u4e00q6 369 6 for for IN cord-014712-5u4e00q6 369 7 8 8 CD cord-014712-5u4e00q6 369 8 months month NNS cord-014712-5u4e00q6 370 1 multi multi JJ cord-014712-5u4e00q6 370 2 drug drug NNP cord-014712-5u4e00q6 370 3 resistant resistant JJ cord-014712-5u4e00q6 370 4 tubercullosis tubercullosis NNP cord-014712-5u4e00q6 370 5 was be VBD cord-014712-5u4e00q6 370 6 considered consider VBN cord-014712-5u4e00q6 370 7 . . . cord-014712-5u4e00q6 371 1 Anti anti JJ cord-014712-5u4e00q6 371 2 - - JJ cord-014712-5u4e00q6 371 3 TB TB NNP cord-014712-5u4e00q6 371 4 drugs drug NNS cord-014712-5u4e00q6 371 5 II II NNP cord-014712-5u4e00q6 371 6 line line NN cord-014712-5u4e00q6 371 7 was be VBD cord-014712-5u4e00q6 371 8 appointed appoint VBN cord-014712-5u4e00q6 371 9 without without IN cord-014712-5u4e00q6 371 10 clinical clinical JJ cord-014712-5u4e00q6 371 11 response response NN cord-014712-5u4e00q6 371 12 . . . cord-014712-5u4e00q6 372 1 Fever Fever NNP cord-014712-5u4e00q6 372 2 persisted persist VBD cord-014712-5u4e00q6 372 3 . . . cord-014712-5u4e00q6 373 1 MRI MRI NNP cord-014712-5u4e00q6 373 2 of of IN cord-014712-5u4e00q6 373 3 brain brain NN cord-014712-5u4e00q6 373 4 revealed reveal VBD cord-014712-5u4e00q6 373 5 mass mass JJ cord-014712-5u4e00q6 373 6 lesion lesion NN cord-014712-5u4e00q6 373 7 in in IN cord-014712-5u4e00q6 373 8 the the DT cord-014712-5u4e00q6 373 9 left left JJ cord-014712-5u4e00q6 373 10 parietal parietal JJ cord-014712-5u4e00q6 373 11 lobe lobe NN cord-014712-5u4e00q6 373 12 . . . cord-014712-5u4e00q6 374 1 Because because IN cord-014712-5u4e00q6 374 2 of of IN cord-014712-5u4e00q6 374 3 suspected suspect VBN cord-014712-5u4e00q6 374 4 tumor tumor NN cord-014712-5u4e00q6 374 5 the the DT cord-014712-5u4e00q6 374 6 brain brain NN cord-014712-5u4e00q6 374 7 biopsy biopsy NN cord-014712-5u4e00q6 374 8 was be VBD cord-014712-5u4e00q6 374 9 done do VBN cord-014712-5u4e00q6 374 10 and and CC cord-014712-5u4e00q6 374 11 the the DT cord-014712-5u4e00q6 374 12 pus pus NN cord-014712-5u4e00q6 374 13 was be VBD cord-014712-5u4e00q6 374 14 obtained obtain VBN cord-014712-5u4e00q6 374 15 . . . cord-014712-5u4e00q6 375 1 Microbiological microbiological JJ cord-014712-5u4e00q6 375 2 studies study NNS cord-014712-5u4e00q6 375 3 revealed reveal VBD cord-014712-5u4e00q6 375 4 Aspergillus Aspergillus NNP cord-014712-5u4e00q6 375 5 fumigatus fumigatus NN cord-014712-5u4e00q6 375 6 . . . cord-014712-5u4e00q6 376 1 At at IN cord-014712-5u4e00q6 376 2 the the DT cord-014712-5u4e00q6 376 3 same same JJ cord-014712-5u4e00q6 376 4 time time NN cord-014712-5u4e00q6 376 5 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 376 6 tumor tumor NN cord-014712-5u4e00q6 376 7 - - HYPH cord-014712-5u4e00q6 376 8 like like JJ cord-014712-5u4e00q6 376 9 infiltrate infiltrate VB cord-014712-5u4e00q6 376 10 40 40 CD cord-014712-5u4e00q6 376 11 х х NNS cord-014712-5u4e00q6 376 12 20 20 CD cord-014712-5u4e00q6 376 13 mm mm NNS cord-014712-5u4e00q6 376 14 appeared appear VBD cord-014712-5u4e00q6 376 15 on on IN cord-014712-5u4e00q6 376 16 chest chest NN cord-014712-5u4e00q6 376 17 in in IN cord-014712-5u4e00q6 376 18 a a DT cord-014712-5u4e00q6 376 19 proection proection NN cord-014712-5u4e00q6 376 20 of of IN cord-014712-5u4e00q6 376 21 lung lung NN cord-014712-5u4e00q6 376 22 lesions lesion NNS cord-014712-5u4e00q6 376 23 . . . cord-014712-5u4e00q6 377 1 The the DT cord-014712-5u4e00q6 377 2 pus pus NN cord-014712-5u4e00q6 377 3 was be VBD cord-014712-5u4e00q6 377 4 obtained obtain VBN cord-014712-5u4e00q6 377 5 during during IN cord-014712-5u4e00q6 377 6 thoracentesis thoracentesis NN cord-014712-5u4e00q6 377 7 . . . cord-014712-5u4e00q6 378 1 Result result NN cord-014712-5u4e00q6 378 2 of of IN cord-014712-5u4e00q6 378 3 microbiological microbiological JJ cord-014712-5u4e00q6 378 4 studies study NNS cord-014712-5u4e00q6 378 5 : : : cord-014712-5u4e00q6 378 6 Aspergillus Aspergillus NNP cord-014712-5u4e00q6 378 7 fumigatus fumigatus NN cord-014712-5u4e00q6 378 8 . . . cord-014712-5u4e00q6 379 1 Drainage drainage NN cord-014712-5u4e00q6 379 2 of of IN cord-014712-5u4e00q6 379 3 abscesses abscess NNS cord-014712-5u4e00q6 379 4 and and CC cord-014712-5u4e00q6 379 5 intravenous intravenous JJ cord-014712-5u4e00q6 379 6 Voriconazolum Voriconazolum NNP cord-014712-5u4e00q6 379 7 led lead VBD cord-014712-5u4e00q6 379 8 to to IN cord-014712-5u4e00q6 379 9 dramatic dramatic JJ cord-014712-5u4e00q6 379 10 clinical clinical JJ cord-014712-5u4e00q6 379 11 improvement improvement NN cord-014712-5u4e00q6 379 12 and and CC cord-014712-5u4e00q6 379 13 normalization normalization NN cord-014712-5u4e00q6 379 14 of of IN cord-014712-5u4e00q6 379 15 blood blood NN cord-014712-5u4e00q6 379 16 parameters parameter NNS cord-014712-5u4e00q6 379 17 . . . cord-014712-5u4e00q6 380 1 Conclusion conclusion NN cord-014712-5u4e00q6 380 2 . . . cord-014712-5u4e00q6 381 1 Features feature NNS cord-014712-5u4e00q6 381 2 of of IN cord-014712-5u4e00q6 381 3 our -PRON- PRP$ cord-014712-5u4e00q6 381 4 case case NN cord-014712-5u4e00q6 381 5 is be VBZ cord-014712-5u4e00q6 381 6 spread spread VBN cord-014712-5u4e00q6 381 7 lesions lesion NNS cord-014712-5u4e00q6 381 8 of of IN cord-014712-5u4e00q6 381 9 aspergillosis aspergillosis NN cord-014712-5u4e00q6 381 10 with with IN cord-014712-5u4e00q6 381 11 relatively relatively RB cord-014712-5u4e00q6 381 12 slow slow JJ cord-014712-5u4e00q6 381 13 progression progression NN cord-014712-5u4e00q6 381 14 of of IN cord-014712-5u4e00q6 381 15 infection infection NN cord-014712-5u4e00q6 381 16 . . . cord-014712-5u4e00q6 382 1 High high JJ cord-014712-5u4e00q6 382 2 incidence incidence NN cord-014712-5u4e00q6 382 3 of of IN cord-014712-5u4e00q6 382 4 tuberculosis tuberculosis NN cord-014712-5u4e00q6 382 5 in in IN cord-014712-5u4e00q6 382 6 Ukraine Ukraine NNP cord-014712-5u4e00q6 382 7 leads lead VBZ cord-014712-5u4e00q6 382 8 to to IN cord-014712-5u4e00q6 382 9 a a DT cord-014712-5u4e00q6 382 10 high high JJ cord-014712-5u4e00q6 382 11 suspicion suspicion NN cord-014712-5u4e00q6 382 12 regarding regard VBG cord-014712-5u4e00q6 382 13 this this DT cord-014712-5u4e00q6 382 14 infection infection NN cord-014712-5u4e00q6 382 15 . . . cord-014712-5u4e00q6 383 1 Diagnosis diagnosis NN cord-014712-5u4e00q6 383 2 of of IN cord-014712-5u4e00q6 383 3 TB TB NNP cord-014712-5u4e00q6 383 4 is be VBZ cord-014712-5u4e00q6 383 5 mainly mainly RB cord-014712-5u4e00q6 383 6 based base VBN cord-014712-5u4e00q6 383 7 on on IN cord-014712-5u4e00q6 383 8 instrumental instrumental JJ cord-014712-5u4e00q6 383 9 studies study NNS cord-014712-5u4e00q6 383 10 . . . cord-014712-5u4e00q6 384 1 Radiological radiological JJ cord-014712-5u4e00q6 384 2 and and CC cord-014712-5u4e00q6 384 3 histological histological JJ cord-014712-5u4e00q6 384 4 differential differential JJ cord-014712-5u4e00q6 384 5 diagnosis diagnosis NN cord-014712-5u4e00q6 384 6 between between IN cord-014712-5u4e00q6 384 7 tuberculosis tuberculosis NN cord-014712-5u4e00q6 384 8 and and CC cord-014712-5u4e00q6 384 9 other other JJ cord-014712-5u4e00q6 384 10 infections infection NNS cord-014712-5u4e00q6 384 11 with with IN cord-014712-5u4e00q6 384 12 granulomas granuloma NNS cord-014712-5u4e00q6 384 13 in in IN cord-014712-5u4e00q6 384 14 CGD CGD NNP cord-014712-5u4e00q6 384 15 is be VBZ cord-014712-5u4e00q6 384 16 difficult difficult JJ cord-014712-5u4e00q6 384 17 . . . cord-014712-5u4e00q6 385 1 High high JJ cord-014712-5u4e00q6 385 2 suspicion suspicion NN cord-014712-5u4e00q6 385 3 of of IN cord-014712-5u4e00q6 385 4 tuberculosis tuberculosis NN cord-014712-5u4e00q6 385 5 led lead VBD cord-014712-5u4e00q6 385 6 to to IN cord-014712-5u4e00q6 385 7 late late JJ cord-014712-5u4e00q6 385 8 diagnosis diagnosis NN cord-014712-5u4e00q6 385 9 of of IN cord-014712-5u4e00q6 385 10 aspergillosis aspergillosis NNP cord-014712-5u4e00q6 385 11 . . . cord-014712-5u4e00q6 386 1 Great Great NNP cord-014712-5u4e00q6 386 2 North North NNP cord-014712-5u4e00q6 386 3 Children Children NNPS cord-014712-5u4e00q6 386 4 's 's POS cord-014712-5u4e00q6 386 5 Hospital Hospital NNP cord-014712-5u4e00q6 386 6 , , , cord-014712-5u4e00q6 386 7 Newcastle Newcastle NNP cord-014712-5u4e00q6 386 8 upon upon IN cord-014712-5u4e00q6 386 9 Tyne Tyne NNP cord-014712-5u4e00q6 386 10 Hospitals Hospitals NNP cord-014712-5u4e00q6 386 11 NHS NHS NNP cord-014712-5u4e00q6 386 12 Foundation Foundation NNP cord-014712-5u4e00q6 386 13 Trust Trust NNP cord-014712-5u4e00q6 386 14 , , , cord-014712-5u4e00q6 386 15 and and CC cord-014712-5u4e00q6 386 16 Primary Primary NNP cord-014712-5u4e00q6 386 17 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 386 18 Group Group NNP cord-014712-5u4e00q6 386 19 , , , cord-014712-5u4e00q6 386 20 Institute Institute NNP cord-014712-5u4e00q6 386 21 of of IN cord-014712-5u4e00q6 386 22 Cellular Cellular NNP cord-014712-5u4e00q6 386 23 Medicine Medicine NNP cord-014712-5u4e00q6 386 24 , , , cord-014712-5u4e00q6 386 25 Newcastle Newcastle NNP cord-014712-5u4e00q6 386 26 University University NNP cord-014712-5u4e00q6 386 27 , , , cord-014712-5u4e00q6 386 28 Newcastle Newcastle NNP cord-014712-5u4e00q6 386 29 upon upon IN cord-014712-5u4e00q6 386 30 Tyne Tyne NNP cord-014712-5u4e00q6 386 31 , , , cord-014712-5u4e00q6 386 32 UK UK NNP cord-014712-5u4e00q6 387 1 Even even RB cord-014712-5u4e00q6 387 2 following follow VBG cord-014712-5u4e00q6 387 3 the the DT cord-014712-5u4e00q6 387 4 introduction introduction NN cord-014712-5u4e00q6 387 5 of of IN cord-014712-5u4e00q6 387 6 biologic biologic JJ cord-014712-5u4e00q6 387 7 disease disease NN cord-014712-5u4e00q6 387 8 modifying modify VBG cord-014712-5u4e00q6 387 9 antirheumatic antirheumatic JJ cord-014712-5u4e00q6 387 10 drugs drug NNS cord-014712-5u4e00q6 387 11 ( ( -LRB- cord-014712-5u4e00q6 387 12 DMARDs dmard NNS cord-014712-5u4e00q6 387 13 ) ) -RRB- cord-014712-5u4e00q6 387 14 , , , cord-014712-5u4e00q6 387 15 a a DT cord-014712-5u4e00q6 387 16 small small JJ cord-014712-5u4e00q6 387 17 number number NN cord-014712-5u4e00q6 387 18 of of IN cord-014712-5u4e00q6 387 19 children child NNS cord-014712-5u4e00q6 387 20 suffering suffer VBG cord-014712-5u4e00q6 387 21 from from IN cord-014712-5u4e00q6 387 22 severe severe JJ cord-014712-5u4e00q6 387 23 , , , cord-014712-5u4e00q6 387 24 refractory refractory JJ cord-014712-5u4e00q6 387 25 autoimmune autoimmune NN cord-014712-5u4e00q6 387 26 ( ( -LRB- cord-014712-5u4e00q6 387 27 AI AI NNP cord-014712-5u4e00q6 387 28 ) ) -RRB- cord-014712-5u4e00q6 387 29 , , , cord-014712-5u4e00q6 387 30 rheumatic rheumatic JJ cord-014712-5u4e00q6 387 31 and/or and/or CC cord-014712-5u4e00q6 387 32 autoinflammatory autoinflammatory JJ cord-014712-5u4e00q6 387 33 disorders disorder NNS cord-014712-5u4e00q6 387 34 will will MD cord-014712-5u4e00q6 387 35 not not RB cord-014712-5u4e00q6 387 36 get get VB cord-014712-5u4e00q6 387 37 into into IN cord-014712-5u4e00q6 387 38 clinical clinical JJ cord-014712-5u4e00q6 387 39 remission remission NN cord-014712-5u4e00q6 387 40 ( ( -LRB- cord-014712-5u4e00q6 387 41 CR CR NNP cord-014712-5u4e00q6 387 42 ) ) -RRB- cord-014712-5u4e00q6 387 43 and and CC cord-014712-5u4e00q6 387 44 will will MD cord-014712-5u4e00q6 387 45 potentially potentially RB cord-014712-5u4e00q6 387 46 further further RB cord-014712-5u4e00q6 387 47 suffer suffer VB cord-014712-5u4e00q6 387 48 from from IN cord-014712-5u4e00q6 387 49 multiple multiple JJ cord-014712-5u4e00q6 387 50 side side NN cord-014712-5u4e00q6 387 51 - - HYPH cord-014712-5u4e00q6 387 52 effects effect NNS cord-014712-5u4e00q6 387 53 of of IN cord-014712-5u4e00q6 387 54 combined combined JJ cord-014712-5u4e00q6 387 55 and and CC cord-014712-5u4e00q6 387 56 long long JJ cord-014712-5u4e00q6 387 57 - - HYPH cord-014712-5u4e00q6 387 58 term term NN cord-014712-5u4e00q6 387 59 immunosuppressive immunosuppressive JJ cord-014712-5u4e00q6 387 60 and and CC cord-014712-5u4e00q6 387 61 anti anti JJ cord-014712-5u4e00q6 387 62 - - JJ cord-014712-5u4e00q6 387 63 inflammatory inflammatory JJ cord-014712-5u4e00q6 387 64 therapies therapy NNS cord-014712-5u4e00q6 387 65 , , , cord-014712-5u4e00q6 387 66 in in IN cord-014712-5u4e00q6 387 67 particular particular JJ cord-014712-5u4e00q6 387 68 severe severe JJ cord-014712-5u4e00q6 387 69 infections infection NNS cord-014712-5u4e00q6 387 70 ( ( -LRB- cord-014712-5u4e00q6 387 71 Marodi Marodi NNP cord-014712-5u4e00q6 387 72 L L NNP cord-014712-5u4e00q6 387 73 , , , cord-014712-5u4e00q6 387 74 Casanova Casanova NNP cord-014712-5u4e00q6 387 75 JL JL NNP cord-014712-5u4e00q6 387 76 . . . cord-014712-5u4e00q6 388 1 JACI JACI NNP cord-014712-5u4e00q6 388 2 2010 2010 CD cord-014712-5u4e00q6 388 3 ; ; : cord-014712-5u4e00q6 388 4 Abinun Abinun NNP cord-014712-5u4e00q6 388 5 M. M. NNP cord-014712-5u4e00q6 388 6 Ped Ped NNP cord-014712-5u4e00q6 388 7 Health Health NNP cord-014712-5u4e00q6 388 8 2010 2010 CD cord-014712-5u4e00q6 388 9 ) ) -RRB- cord-014712-5u4e00q6 388 10 . . . cord-014712-5u4e00q6 389 1 Whilst whilst IN cord-014712-5u4e00q6 389 2 autologous autologous JJ cord-014712-5u4e00q6 389 3 T t NN cord-014712-5u4e00q6 389 4 cell cell NN cord-014712-5u4e00q6 389 5 depleted deplete VBD cord-014712-5u4e00q6 389 6 HSCT HSCT NNP cord-014712-5u4e00q6 389 7 following follow VBG cord-014712-5u4e00q6 389 8 the the DT cord-014712-5u4e00q6 389 9 immunosuppressive immunosuppressive JJ cord-014712-5u4e00q6 389 10 conditioning conditioning NN cord-014712-5u4e00q6 389 11 regimen regimen NN cord-014712-5u4e00q6 389 12 achieved achieve VBD cord-014712-5u4e00q6 389 13 complete complete JJ cord-014712-5u4e00q6 389 14 clinical clinical JJ cord-014712-5u4e00q6 389 15 remission remission NN cord-014712-5u4e00q6 389 16 in in IN cord-014712-5u4e00q6 389 17 majority majority NN cord-014712-5u4e00q6 389 18 of of IN cord-014712-5u4e00q6 389 19 children child NNS cord-014712-5u4e00q6 389 20 with with IN cord-014712-5u4e00q6 389 21 severe severe JJ cord-014712-5u4e00q6 389 22 juvenile juvenile JJ cord-014712-5u4e00q6 389 23 idiopathic idiopathic JJ cord-014712-5u4e00q6 389 24 arthritis arthritis NN cord-014712-5u4e00q6 389 25 ( ( -LRB- cord-014712-5u4e00q6 389 26 JIA JIA NNP cord-014712-5u4e00q6 389 27 ) ) -RRB- cord-014712-5u4e00q6 389 28 ( ( -LRB- cord-014712-5u4e00q6 389 29 de de FW cord-014712-5u4e00q6 389 30 Kleer Kleer NNP cord-014712-5u4e00q6 389 31 IM IM NNP cord-014712-5u4e00q6 389 32 et et NNP cord-014712-5u4e00q6 389 33 al al NNP cord-014712-5u4e00q6 389 34 . . . cord-014712-5u4e00q6 390 1 Ann Ann NNP cord-014712-5u4e00q6 390 2 Rheum Rheum NNP cord-014712-5u4e00q6 390 3 Dis Dis NNP cord-014712-5u4e00q6 390 4 2004 2004 CD cord-014712-5u4e00q6 390 5 ) ) -RRB- cord-014712-5u4e00q6 390 6 , , , cord-014712-5u4e00q6 390 7 infection infection NN cord-014712-5u4e00q6 390 8 - - HYPH cord-014712-5u4e00q6 390 9 related relate VBN cord-014712-5u4e00q6 390 10 mortality mortality NN cord-014712-5u4e00q6 390 11 remains remain VBZ cord-014712-5u4e00q6 390 12 significant significant JJ cord-014712-5u4e00q6 391 1 ( ( -LRB- cord-014712-5u4e00q6 391 2 Abinun Abinun NNP cord-014712-5u4e00q6 391 3 M M NNP cord-014712-5u4e00q6 391 4 et et NNP cord-014712-5u4e00q6 391 5 al al NNP cord-014712-5u4e00q6 391 6 . . . cord-014712-5u4e00q6 392 1 Mol Mol NNP cord-014712-5u4e00q6 392 2 Immunol Immunol NNP cord-014712-5u4e00q6 392 3 2009 2009 CD cord-014712-5u4e00q6 392 4 ) ) -RRB- cord-014712-5u4e00q6 392 5 . . . cord-014712-5u4e00q6 393 1 Therefore therefore RB cord-014712-5u4e00q6 393 2 , , , cord-014712-5u4e00q6 393 3 following follow VBG cord-014712-5u4e00q6 393 4 the the DT cord-014712-5u4e00q6 393 5 success success NN cord-014712-5u4e00q6 393 6 of of IN cord-014712-5u4e00q6 393 7 allogeneic allogeneic NN cord-014712-5u4e00q6 393 8 HSCT HSCT NNP cord-014712-5u4e00q6 393 9 in in IN cord-014712-5u4e00q6 393 10 treating treat VBG cord-014712-5u4e00q6 393 11 6 6 CD cord-014712-5u4e00q6 393 12 children child NNS cord-014712-5u4e00q6 393 13 with with IN cord-014712-5u4e00q6 393 14 immunodysregulation immunodysregulation NN cord-014712-5u4e00q6 393 15 , , , cord-014712-5u4e00q6 393 16 polyendocrinopathy polyendocrinopathy NNP cord-014712-5u4e00q6 393 17 , , , cord-014712-5u4e00q6 393 18 enteropathy enteropathy NNP cord-014712-5u4e00q6 393 19 , , , cord-014712-5u4e00q6 393 20 X x NN cord-014712-5u4e00q6 393 21 - - HYPH cord-014712-5u4e00q6 393 22 linked link VBN cord-014712-5u4e00q6 393 23 ( ( -LRB- cord-014712-5u4e00q6 393 24 IPEX IPEX NNP cord-014712-5u4e00q6 393 25 ) ) -RRB- cord-014712-5u4e00q6 393 26 syndrome syndrome NN cord-014712-5u4e00q6 394 1 ( ( -LRB- cord-014712-5u4e00q6 394 2 Nademi Nademi NNP cord-014712-5u4e00q6 394 3 Z Z NNP cord-014712-5u4e00q6 394 4 et et FW cord-014712-5u4e00q6 394 5 al al NNP cord-014712-5u4e00q6 394 6 . . . cord-014712-5u4e00q6 395 1 BMT BMT NNP cord-014712-5u4e00q6 395 2 2014 2014 CD cord-014712-5u4e00q6 395 3 ) ) -RRB- cord-014712-5u4e00q6 395 4 , , , cord-014712-5u4e00q6 395 5 we -PRON- PRP cord-014712-5u4e00q6 395 6 treated treat VBD cord-014712-5u4e00q6 395 7 further further RB cord-014712-5u4e00q6 395 8 10 10 CD cord-014712-5u4e00q6 395 9 children child NNS cord-014712-5u4e00q6 395 10 with with IN cord-014712-5u4e00q6 395 11 different different JJ cord-014712-5u4e00q6 395 12 severe severe JJ cord-014712-5u4e00q6 395 13 AI ai NN cord-014712-5u4e00q6 395 14 ( ( -LRB- cord-014712-5u4e00q6 395 15 ALPS ALPS NNP cord-014712-5u4e00q6 395 16 , , , cord-014712-5u4e00q6 395 17 autoimmune autoimmune JJ cord-014712-5u4e00q6 395 18 lymphoproliferative lymphoproliferative JJ cord-014712-5u4e00q6 395 19 syndrome syndrome NNP cord-014712-5u4e00q6 395 20 ( ( -LRB- cord-014712-5u4e00q6 395 21 n n NN cord-014712-5u4e00q6 395 22 = = SYM cord-014712-5u4e00q6 395 23 3 3 CD cord-014712-5u4e00q6 395 24 ) ) -RRB- cord-014712-5u4e00q6 395 25 ; ; , cord-014712-5u4e00q6 395 26 complex complex JJ cord-014712-5u4e00q6 395 27 AI AI NNP cord-014712-5u4e00q6 395 28 disorder disorder NN cord-014712-5u4e00q6 395 29 ( ( -LRB- cord-014712-5u4e00q6 395 30 n n NN cord-014712-5u4e00q6 395 31 = = SYM cord-014712-5u4e00q6 395 32 1 1 CD cord-014712-5u4e00q6 395 33 ) ) -RRB- cord-014712-5u4e00q6 395 34 ) ) -RRB- cord-014712-5u4e00q6 395 35 , , , cord-014712-5u4e00q6 395 36 rheumatological rheumatological JJ cord-014712-5u4e00q6 395 37 ( ( -LRB- cord-014712-5u4e00q6 395 38 jSLE jsle JJ cord-014712-5u4e00q6 395 39 , , , cord-014712-5u4e00q6 395 40 juvenile juvenile JJ cord-014712-5u4e00q6 395 41 systemic systemic JJ cord-014712-5u4e00q6 395 42 lupus lupus NN cord-014712-5u4e00q6 395 43 erythematosus erythematosus NN cord-014712-5u4e00q6 395 44 ( ( -LRB- cord-014712-5u4e00q6 395 45 n n NN cord-014712-5u4e00q6 395 46 = = SYM cord-014712-5u4e00q6 395 47 1 1 CD cord-014712-5u4e00q6 395 48 ) ) -RRB- cord-014712-5u4e00q6 395 49 ; ; : cord-014712-5u4e00q6 396 1 JIA JIA NNP cord-014712-5u4e00q6 396 2 ( ( -LRB- cord-014712-5u4e00q6 396 3 n n NN cord-014712-5u4e00q6 396 4 = = SYM cord-014712-5u4e00q6 396 5 2 2 CD cord-014712-5u4e00q6 396 6 ) ) -RRB- cord-014712-5u4e00q6 396 7 ) ) -RRB- cord-014712-5u4e00q6 396 8 and and CC cord-014712-5u4e00q6 396 9 autoinflammatory autoinflammatory JJ cord-014712-5u4e00q6 396 10 disorders disorder NNS cord-014712-5u4e00q6 396 11 ( ( -LRB- cord-014712-5u4e00q6 396 12 MKD MKD NNP cord-014712-5u4e00q6 396 13 , , , cord-014712-5u4e00q6 396 14 mevalonic mevalonic NNP cord-014712-5u4e00q6 396 15 kinase kinase NN cord-014712-5u4e00q6 396 16 deficiency/ deficiency/ CD cord-014712-5u4e00q6 396 17 TRAPS trap NNS cord-014712-5u4e00q6 396 18 , , , cord-014712-5u4e00q6 396 19 TNF tnf NN cord-014712-5u4e00q6 396 20 - - HYPH cord-014712-5u4e00q6 396 21 receptor receptor NN cord-014712-5u4e00q6 396 22 associated associate VBD cord-014712-5u4e00q6 396 23 periodic periodic JJ cord-014712-5u4e00q6 396 24 fever fever NN cord-014712-5u4e00q6 396 25 syndrome syndrome NN cord-014712-5u4e00q6 396 26 ( ( -LRB- cord-014712-5u4e00q6 396 27 n n NN cord-014712-5u4e00q6 396 28 = = SYM cord-014712-5u4e00q6 396 29 1 1 CD cord-014712-5u4e00q6 396 30 ) ) -RRB- cord-014712-5u4e00q6 396 31 ; ; : cord-014712-5u4e00q6 396 32 EOC EOC NNP cord-014712-5u4e00q6 396 33 , , , cord-014712-5u4e00q6 396 34 early early JJ cord-014712-5u4e00q6 396 35 onset onset NN cord-014712-5u4e00q6 396 36 colitis colitis NN cord-014712-5u4e00q6 396 37 ( ( -LRB- cord-014712-5u4e00q6 396 38 n n NN cord-014712-5u4e00q6 396 39 = = SYM cord-014712-5u4e00q6 396 40 2 2 CD cord-014712-5u4e00q6 396 41 ) ) -RRB- cord-014712-5u4e00q6 396 42 ) ) -RRB- cord-014712-5u4e00q6 396 43 . . . cord-014712-5u4e00q6 397 1 Overall overall RB cord-014712-5u4e00q6 397 2 , , , cord-014712-5u4e00q6 397 3 14 14 CD cord-014712-5u4e00q6 397 4 of of IN cord-014712-5u4e00q6 397 5 the the DT cord-014712-5u4e00q6 397 6 16 16 CD cord-014712-5u4e00q6 397 7 children child NNS cord-014712-5u4e00q6 397 8 are be VBP cord-014712-5u4e00q6 397 9 alive alive JJ cord-014712-5u4e00q6 397 10 ( ( -LRB- cord-014712-5u4e00q6 397 11 follow follow VB cord-014712-5u4e00q6 397 12 up up RP cord-014712-5u4e00q6 397 13 1 1 CD cord-014712-5u4e00q6 397 14 - - HYPH cord-014712-5u4e00q6 397 15 11 11 CD cord-014712-5u4e00q6 397 16 years year NNS cord-014712-5u4e00q6 397 17 ) ) -RRB- cord-014712-5u4e00q6 397 18 , , , cord-014712-5u4e00q6 397 19 12 12 CD cord-014712-5u4e00q6 397 20 in in IN cord-014712-5u4e00q6 397 21 complete complete JJ cord-014712-5u4e00q6 397 22 and and CC cord-014712-5u4e00q6 397 23 1 1 LS cord-014712-5u4e00q6 397 24 ( ( -LRB- cord-014712-5u4e00q6 397 25 complex complex JJ cord-014712-5u4e00q6 397 26 AI AI NNP cord-014712-5u4e00q6 397 27 disorder disorder NN cord-014712-5u4e00q6 397 28 ) ) -RRB- cord-014712-5u4e00q6 397 29 in in IN cord-014712-5u4e00q6 397 30 partial partial JJ cord-014712-5u4e00q6 397 31 CR cr NN cord-014712-5u4e00q6 397 32 , , , cord-014712-5u4e00q6 397 33 original original JJ cord-014712-5u4e00q6 397 34 disease disease NN cord-014712-5u4e00q6 397 35 ( ( -LRB- cord-014712-5u4e00q6 397 36 ALPS ALPS NNP cord-014712-5u4e00q6 397 37 ) ) -RRB- cord-014712-5u4e00q6 397 38 relapsed relapse VBD cord-014712-5u4e00q6 397 39 in in IN cord-014712-5u4e00q6 397 40 1 1 CD cord-014712-5u4e00q6 397 41 , , , cord-014712-5u4e00q6 397 42 and and CC cord-014712-5u4e00q6 397 43 2 2 CD cord-014712-5u4e00q6 397 44 children child NNS cord-014712-5u4e00q6 397 45 died die VBD cord-014712-5u4e00q6 397 46 ( ( -LRB- cord-014712-5u4e00q6 397 47 1 1 CD cord-014712-5u4e00q6 397 48 each each DT cord-014712-5u4e00q6 397 49 with with IN cord-014712-5u4e00q6 397 50 ALPS ALPS NNP cord-014712-5u4e00q6 397 51 and and CC cord-014712-5u4e00q6 397 52 EOC EOC NNP cord-014712-5u4e00q6 397 53 ) ) -RRB- cord-014712-5u4e00q6 397 54 . . . cord-014712-5u4e00q6 398 1 2 2 CD cord-014712-5u4e00q6 398 2 children child NNS cord-014712-5u4e00q6 398 3 had have VBD cord-014712-5u4e00q6 398 4 significant significant JJ cord-014712-5u4e00q6 398 5 , , , cord-014712-5u4e00q6 398 6 but but CC cord-014712-5u4e00q6 398 7 transient transient JJ cord-014712-5u4e00q6 398 8 acute acute NN cord-014712-5u4e00q6 398 9 ( ( -LRB- cord-014712-5u4e00q6 398 10 grade grade NN cord-014712-5u4e00q6 398 11 3 3 CD cord-014712-5u4e00q6 398 12 - - SYM cord-014712-5u4e00q6 398 13 4 4 CD cord-014712-5u4e00q6 398 14 ) ) -RRB- cord-014712-5u4e00q6 398 15 and and CC cord-014712-5u4e00q6 398 16 chronic chronic JJ cord-014712-5u4e00q6 398 17 ( ( -LRB- cord-014712-5u4e00q6 398 18 limited limited JJ cord-014712-5u4e00q6 398 19 ) ) -RRB- cord-014712-5u4e00q6 398 20 graft graft NN cord-014712-5u4e00q6 398 21 vs. vs. FW cord-014712-5u4e00q6 398 22 host host NN cord-014712-5u4e00q6 398 23 disease disease NN cord-014712-5u4e00q6 398 24 ( ( -LRB- cord-014712-5u4e00q6 398 25 GvHD GvHD NNP cord-014712-5u4e00q6 398 26 ) ) -RRB- cord-014712-5u4e00q6 398 27 , , , cord-014712-5u4e00q6 398 28 3 3 CD cord-014712-5u4e00q6 398 29 experienced experience VBD cord-014712-5u4e00q6 398 30 multiple multiple JJ cord-014712-5u4e00q6 398 31 virus virus NN cord-014712-5u4e00q6 398 32 reactivation(s reactivation(s NNP cord-014712-5u4e00q6 398 33 ) ) -RRB- cord-014712-5u4e00q6 398 34 , , , cord-014712-5u4e00q6 398 35 and and CC cord-014712-5u4e00q6 398 36 remarkably remarkably RB cord-014712-5u4e00q6 398 37 we -PRON- PRP cord-014712-5u4e00q6 398 38 saw see VBD cord-014712-5u4e00q6 398 39 significant significant JJ cord-014712-5u4e00q6 398 40 secondary secondary JJ cord-014712-5u4e00q6 398 41 AI ai NN cord-014712-5u4e00q6 398 42 diseases disease NNS cord-014712-5u4e00q6 398 43 post post VBP cord-014712-5u4e00q6 398 44 - - JJ cord-014712-5u4e00q6 398 45 HSCT HSCT NNP cord-014712-5u4e00q6 399 1 ( ( -LRB- cord-014712-5u4e00q6 399 2 transient transient JJ cord-014712-5u4e00q6 399 3 nephritic nephritic NNP cord-014712-5u4e00q6 399 4 syndrome syndrome NN cord-014712-5u4e00q6 399 5 ( ( -LRB- cord-014712-5u4e00q6 399 6 n n NN cord-014712-5u4e00q6 399 7 = = SYM cord-014712-5u4e00q6 399 8 2 2 CD cord-014712-5u4e00q6 399 9 ) ) -RRB- cord-014712-5u4e00q6 399 10 and and CC cord-014712-5u4e00q6 399 11 cytopaenias cytopaenias NNP cord-014712-5u4e00q6 399 12 ( ( -LRB- cord-014712-5u4e00q6 399 13 n n NN cord-014712-5u4e00q6 399 14 = = SYM cord-014712-5u4e00q6 399 15 1 1 CD cord-014712-5u4e00q6 399 16 ) ) -RRB- cord-014712-5u4e00q6 399 17 ; ; : cord-014712-5u4e00q6 399 18 psoriasis psoriasis NN cord-014712-5u4e00q6 399 19 , , , cord-014712-5u4e00q6 399 20 n n NN cord-014712-5u4e00q6 399 21 = = SYM cord-014712-5u4e00q6 399 22 1 1 CD cord-014712-5u4e00q6 399 23 ; ; , cord-014712-5u4e00q6 399 24 and and CC cord-014712-5u4e00q6 399 25 thyroid thyroid NN cord-014712-5u4e00q6 399 26 disorders disorder NNS cord-014712-5u4e00q6 399 27 ( ( -LRB- cord-014712-5u4e00q6 399 28 Grave Grave NNP cord-014712-5u4e00q6 399 29 's 's POS cord-014712-5u4e00q6 399 30 thyrotoxicosis thyrotoxicosis NN cord-014712-5u4e00q6 399 31 and and CC cord-014712-5u4e00q6 399 32 hypothyroidism hypothyroidism NN cord-014712-5u4e00q6 399 33 ) ) -RRB- cord-014712-5u4e00q6 399 34 , , . cord-014712-5u4e00q6 400 1 n n NN cord-014712-5u4e00q6 400 2 = = SYM cord-014712-5u4e00q6 400 3 2 2 CD cord-014712-5u4e00q6 400 4 ) ) -RRB- cord-014712-5u4e00q6 400 5 . . . cord-014712-5u4e00q6 401 1 Our -PRON- PRP$ cord-014712-5u4e00q6 401 2 data datum NNS cord-014712-5u4e00q6 401 3 add add VBP cord-014712-5u4e00q6 401 4 to to IN cord-014712-5u4e00q6 401 5 the the DT cord-014712-5u4e00q6 401 6 positive positive JJ cord-014712-5u4e00q6 401 7 experience experience NN cord-014712-5u4e00q6 401 8 and and CC cord-014712-5u4e00q6 401 9 evidence evidence NN cord-014712-5u4e00q6 401 10 acquired acquire VBN cord-014712-5u4e00q6 401 11 over over IN cord-014712-5u4e00q6 401 12 the the DT cord-014712-5u4e00q6 401 13 last last JJ cord-014712-5u4e00q6 401 14 10 10 CD cord-014712-5u4e00q6 401 15 - - SYM cord-014712-5u4e00q6 401 16 15 15 CD cord-014712-5u4e00q6 401 17 years year NNS cord-014712-5u4e00q6 401 18 ( ( -LRB- cord-014712-5u4e00q6 401 19 Daikeler Daikeler NNP cord-014712-5u4e00q6 401 20 T T NNP cord-014712-5u4e00q6 401 21 et et FW cord-014712-5u4e00q6 401 22 al al NNP cord-014712-5u4e00q6 401 23 . . . cord-014712-5u4e00q6 402 1 BMT BMT NNP cord-014712-5u4e00q6 402 2 2009 2009 CD cord-014712-5u4e00q6 402 3 ; ; : cord-014712-5u4e00q6 402 4 Snowden Snowden NNP cord-014712-5u4e00q6 402 5 JA JA NNP cord-014712-5u4e00q6 402 6 et et NNP cord-014712-5u4e00q6 402 7 al al NNP cord-014712-5u4e00q6 402 8 . . . cord-014712-5u4e00q6 403 1 BJH BJH NNP cord-014712-5u4e00q6 403 2 2012 2012 CD cord-014712-5u4e00q6 403 3 ) ) -RRB- cord-014712-5u4e00q6 403 4 to to TO cord-014712-5u4e00q6 403 5 propose propose VB cord-014712-5u4e00q6 403 6 the the DT cord-014712-5u4e00q6 403 7 allogeneic allogeneic JJ cord-014712-5u4e00q6 403 8 HSCT HSCT NNP cord-014712-5u4e00q6 403 9 as as IN cord-014712-5u4e00q6 403 10 a a DT cord-014712-5u4e00q6 403 11 viable viable JJ cord-014712-5u4e00q6 403 12 treatment treatment NN cord-014712-5u4e00q6 403 13 option option NN cord-014712-5u4e00q6 403 14 for for IN cord-014712-5u4e00q6 403 15 the the DT cord-014712-5u4e00q6 403 16 small small JJ cord-014712-5u4e00q6 403 17 group group NN cord-014712-5u4e00q6 403 18 of of IN cord-014712-5u4e00q6 403 19 children child NNS cord-014712-5u4e00q6 403 20 suffering suffer VBG cord-014712-5u4e00q6 403 21 from from IN cord-014712-5u4e00q6 403 22 severe severe JJ cord-014712-5u4e00q6 403 23 autoimmune autoimmune JJ cord-014712-5u4e00q6 403 24 disorders disorder NNS cord-014712-5u4e00q6 403 25 . . . cord-014712-5u4e00q6 404 1 The the DT cord-014712-5u4e00q6 404 2 Wiskott Wiskott NNP cord-014712-5u4e00q6 404 3 - - HYPH cord-014712-5u4e00q6 404 4 Aldrich Aldrich NNP cord-014712-5u4e00q6 404 5 syndrome syndrome NN cord-014712-5u4e00q6 404 6 ( ( -LRB- cord-014712-5u4e00q6 404 7 WAS be VBD cord-014712-5u4e00q6 404 8 ) ) -RRB- cord-014712-5u4e00q6 404 9 is be VBZ cord-014712-5u4e00q6 404 10 an an DT cord-014712-5u4e00q6 404 11 X x NN cord-014712-5u4e00q6 404 12 - - HYPH cord-014712-5u4e00q6 404 13 linked link VBN cord-014712-5u4e00q6 404 14 primary primary JJ cord-014712-5u4e00q6 404 15 immune immune JJ cord-014712-5u4e00q6 404 16 deficiency deficiency NN cord-014712-5u4e00q6 404 17 disorder disorder NN cord-014712-5u4e00q6 404 18 characterized characterize VBN cord-014712-5u4e00q6 404 19 by by IN cord-014712-5u4e00q6 404 20 thrombocytopenia thrombocytopenia NN cord-014712-5u4e00q6 404 21 , , , cord-014712-5u4e00q6 404 22 microthrombocytopenia microthrombocytopenia NNP cord-014712-5u4e00q6 404 23 , , , cord-014712-5u4e00q6 404 24 recurrent recurrent JJ cord-014712-5u4e00q6 404 25 , , , cord-014712-5u4e00q6 404 26 mostly mostly RB cord-014712-5u4e00q6 404 27 respiratory respiratory JJ cord-014712-5u4e00q6 404 28 tract tract NN cord-014712-5u4e00q6 404 29 infections infection NNS cord-014712-5u4e00q6 404 30 , , , cord-014712-5u4e00q6 404 31 eczema eczema NN cord-014712-5u4e00q6 404 32 and and CC cord-014712-5u4e00q6 404 33 increased increase VBN cord-014712-5u4e00q6 404 34 risk risk NN cord-014712-5u4e00q6 404 35 of of IN cord-014712-5u4e00q6 404 36 autoimmune autoimmune JJ cord-014712-5u4e00q6 404 37 disorders disorder NNS cord-014712-5u4e00q6 404 38 and and CC cord-014712-5u4e00q6 404 39 malignancies malignancy NNS cord-014712-5u4e00q6 404 40 . . . cord-014712-5u4e00q6 405 1 WAS be VBD cord-014712-5u4e00q6 405 2 is be VBZ cord-014712-5u4e00q6 405 3 caused cause VBN cord-014712-5u4e00q6 405 4 by by IN cord-014712-5u4e00q6 405 5 mutations mutation NNS cord-014712-5u4e00q6 405 6 in in IN cord-014712-5u4e00q6 405 7 the the DT cord-014712-5u4e00q6 405 8 WASP WASP NNP cord-014712-5u4e00q6 405 9 gene gene NN cord-014712-5u4e00q6 405 10 which which WDT cord-014712-5u4e00q6 405 11 encodes encode VBZ cord-014712-5u4e00q6 405 12 WASP WASP NNP cord-014712-5u4e00q6 405 13 , , , cord-014712-5u4e00q6 405 14 a a DT cord-014712-5u4e00q6 405 15 502-amino 502-amino CD cord-014712-5u4e00q6 405 16 acid acid NN cord-014712-5u4e00q6 405 17 protein protein NN cord-014712-5u4e00q6 405 18 . . . cord-014712-5u4e00q6 406 1 WASP WASP NNP cord-014712-5u4e00q6 406 2 plays play VBZ cord-014712-5u4e00q6 406 3 a a DT cord-014712-5u4e00q6 406 4 critical critical JJ cord-014712-5u4e00q6 406 5 role role NN cord-014712-5u4e00q6 406 6 in in IN cord-014712-5u4e00q6 406 7 actin actin NN cord-014712-5u4e00q6 406 8 cytoskeleton cytoskeleton NN cord-014712-5u4e00q6 406 9 organization organization NN cord-014712-5u4e00q6 406 10 , , , cord-014712-5u4e00q6 406 11 signalling signal VBG cord-014712-5u4e00q6 406 12 and and CC cord-014712-5u4e00q6 406 13 different different JJ cord-014712-5u4e00q6 406 14 functions function NNS cord-014712-5u4e00q6 406 15 of of IN cord-014712-5u4e00q6 406 16 immune immune JJ cord-014712-5u4e00q6 406 17 cells cell NNS cord-014712-5u4e00q6 406 18 . . . cord-014712-5u4e00q6 407 1 We -PRON- PRP cord-014712-5u4e00q6 407 2 present present VBP cord-014712-5u4e00q6 407 3 here here RB cord-014712-5u4e00q6 407 4 the the DT cord-014712-5u4e00q6 407 5 results result NNS cord-014712-5u4e00q6 407 6 of of IN cord-014712-5u4e00q6 407 7 genetic genetic JJ cord-014712-5u4e00q6 407 8 analysis analysis NN cord-014712-5u4e00q6 407 9 of of IN cord-014712-5u4e00q6 407 10 patients patient NNS cord-014712-5u4e00q6 407 11 with with IN cord-014712-5u4e00q6 407 12 WAS be VBD cord-014712-5u4e00q6 407 13 from from IN cord-014712-5u4e00q6 407 14 eleven eleven CD cord-014712-5u4e00q6 407 15 Eastern eastern JJ cord-014712-5u4e00q6 407 16 and and CC cord-014712-5u4e00q6 407 17 Central central JJ cord-014712-5u4e00q6 407 18 European european JJ cord-014712-5u4e00q6 407 19 ( ( -LRB- cord-014712-5u4e00q6 407 20 ECE ECE NNP cord-014712-5u4e00q6 407 21 ) ) -RRB- cord-014712-5u4e00q6 407 22 countries country NNS cord-014712-5u4e00q6 407 23 , , , cord-014712-5u4e00q6 407 24 Turkey Turkey NNP cord-014712-5u4e00q6 407 25 , , , cord-014712-5u4e00q6 407 26 Iran Iran NNP cord-014712-5u4e00q6 407 27 and and CC cord-014712-5u4e00q6 407 28 Azerbaijan Azerbaijan NNP cord-014712-5u4e00q6 407 29 . . . cord-014712-5u4e00q6 408 1 Clinical clinical JJ cord-014712-5u4e00q6 408 2 and and CC cord-014712-5u4e00q6 408 3 laboratory laboratory NN cord-014712-5u4e00q6 408 4 information information NN cord-014712-5u4e00q6 408 5 of of IN cord-014712-5u4e00q6 408 6 116 116 CD cord-014712-5u4e00q6 408 7 affected affect VBN cord-014712-5u4e00q6 408 8 males male NNS cord-014712-5u4e00q6 408 9 and and CC cord-014712-5u4e00q6 408 10 63 63 CD cord-014712-5u4e00q6 408 11 carrier carrier NN cord-014712-5u4e00q6 408 12 females female NNS cord-014712-5u4e00q6 408 13 from from IN cord-014712-5u4e00q6 408 14 106 106 CD cord-014712-5u4e00q6 408 15 WAS be VBD cord-014712-5u4e00q6 408 16 families family NNS cord-014712-5u4e00q6 408 17 were be VBD cord-014712-5u4e00q6 408 18 collected collect VBN cord-014712-5u4e00q6 408 19 . . . cord-014712-5u4e00q6 409 1 The the DT cord-014712-5u4e00q6 409 2 WASP WASP NNP cord-014712-5u4e00q6 409 3 gene gene NN cord-014712-5u4e00q6 409 4 was be VBD cord-014712-5u4e00q6 409 5 sequenced sequence VBN cord-014712-5u4e00q6 409 6 from from IN cord-014712-5u4e00q6 409 7 genomic genomic JJ cord-014712-5u4e00q6 409 8 DNA dna NN cord-014712-5u4e00q6 409 9 of of IN cord-014712-5u4e00q6 409 10 patients patient NNS cord-014712-5u4e00q6 409 11 with with IN cord-014712-5u4e00q6 409 12 WAS be VBD cord-014712-5u4e00q6 409 13 , , , cord-014712-5u4e00q6 409 14 as as RB cord-014712-5u4e00q6 409 15 well well RB cord-014712-5u4e00q6 409 16 as as IN cord-014712-5u4e00q6 409 17 their -PRON- PRP$ cord-014712-5u4e00q6 409 18 family family NN cord-014712-5u4e00q6 409 19 members member NNS cord-014712-5u4e00q6 409 20 to to TO cord-014712-5u4e00q6 409 21 identify identify VB cord-014712-5u4e00q6 409 22 carriers carrier NNS cord-014712-5u4e00q6 409 23 . . . cord-014712-5u4e00q6 410 1 In in IN cord-014712-5u4e00q6 410 2 this this DT cord-014712-5u4e00q6 410 3 large large JJ cord-014712-5u4e00q6 410 4 cohort cohort NN cord-014712-5u4e00q6 410 5 , , , cord-014712-5u4e00q6 410 6 we -PRON- PRP cord-014712-5u4e00q6 410 7 identified identify VBD cord-014712-5u4e00q6 410 8 77 77 CD cord-014712-5u4e00q6 410 9 unique unique JJ cord-014712-5u4e00q6 410 10 mutations mutation NNS cord-014712-5u4e00q6 410 11 including include VBG cord-014712-5u4e00q6 410 12 23 23 CD cord-014712-5u4e00q6 410 13 novel novel JJ cord-014712-5u4e00q6 410 14 sequence sequence NN cord-014712-5u4e00q6 410 15 variants variant NNS cord-014712-5u4e00q6 410 16 . . . cord-014712-5u4e00q6 411 1 The the DT cord-014712-5u4e00q6 411 2 mutations mutation NNS cord-014712-5u4e00q6 411 3 were be VBD cord-014712-5u4e00q6 411 4 scattered scatter VBN cord-014712-5u4e00q6 411 5 throughout throughout IN cord-014712-5u4e00q6 411 6 the the DT cord-014712-5u4e00q6 411 7 WASP WASP NNP cord-014712-5u4e00q6 411 8 gene gene NN cord-014712-5u4e00q6 411 9 and and CC cord-014712-5u4e00q6 411 10 included include VBD cord-014712-5u4e00q6 411 11 single single JJ cord-014712-5u4e00q6 411 12 base base NN cord-014712-5u4e00q6 411 13 pair pair NN cord-014712-5u4e00q6 411 14 changes change NNS cord-014712-5u4e00q6 411 15 ( ( -LRB- cord-014712-5u4e00q6 411 16 20 20 CD cord-014712-5u4e00q6 411 17 missense missense NN cord-014712-5u4e00q6 411 18 and and CC cord-014712-5u4e00q6 411 19 14 14 CD cord-014712-5u4e00q6 411 20 nonsense nonsense NN cord-014712-5u4e00q6 411 21 mutations mutation NNS cord-014712-5u4e00q6 411 22 ) ) -RRB- cord-014712-5u4e00q6 411 23 , , , cord-014712-5u4e00q6 411 24 8 8 CD cord-014712-5u4e00q6 411 25 small small JJ cord-014712-5u4e00q6 411 26 insertions insertion NNS cord-014712-5u4e00q6 411 27 , , , cord-014712-5u4e00q6 411 28 22 22 CD cord-014712-5u4e00q6 411 29 deletions deletion NNS cord-014712-5u4e00q6 411 30 , , , cord-014712-5u4e00q6 411 31 and and CC cord-014712-5u4e00q6 411 32 12 12 CD cord-014712-5u4e00q6 411 33 splice splice NN cord-014712-5u4e00q6 411 34 site site NN cord-014712-5u4e00q6 411 35 defects defect NNS cord-014712-5u4e00q6 411 36 . . . cord-014712-5u4e00q6 412 1 This this DT cord-014712-5u4e00q6 412 2 study study NN cord-014712-5u4e00q6 412 3 was be VBD cord-014712-5u4e00q6 412 4 financially financially RB cord-014712-5u4e00q6 412 5 supported support VBN cord-014712-5u4e00q6 412 6 by by IN cord-014712-5u4e00q6 412 7 the the DT cord-014712-5u4e00q6 412 8 TÜBİTAK TÜBİTAK NNP cord-014712-5u4e00q6 412 9 Project Project NNP cord-014712-5u4e00q6 412 10 110S252 110s252 CD cord-014712-5u4e00q6 412 11 and and CC cord-014712-5u4e00q6 412 12 BAP BAP NNP cord-014712-5u4e00q6 412 13 Project Project NNP cord-014712-5u4e00q6 413 1 TDA-2013 tda-2013 NN cord-014712-5u4e00q6 413 2 - - HYPH cord-014712-5u4e00q6 413 3 4075 4075 CD cord-014712-5u4e00q6 413 4 . . . cord-014712-5u4e00q6 414 1 Background background NN cord-014712-5u4e00q6 414 2 : : : cord-014712-5u4e00q6 415 1 Chronic chronic JJ cord-014712-5u4e00q6 415 2 granulomatous granulomatous JJ cord-014712-5u4e00q6 415 3 disease disease NN cord-014712-5u4e00q6 415 4 ( ( -LRB- cord-014712-5u4e00q6 415 5 CGD CGD NNP cord-014712-5u4e00q6 415 6 ) ) -RRB- cord-014712-5u4e00q6 415 7 is be VBZ cord-014712-5u4e00q6 415 8 a a DT cord-014712-5u4e00q6 415 9 rare rare JJ cord-014712-5u4e00q6 415 10 primary primary JJ cord-014712-5u4e00q6 415 11 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 415 12 disorder disorder NN cord-014712-5u4e00q6 415 13 of of IN cord-014712-5u4e00q6 415 14 phagocytes phagocyte NNS cord-014712-5u4e00q6 415 15 . . . cord-014712-5u4e00q6 416 1 resulting result VBG cord-014712-5u4e00q6 416 2 in in IN cord-014712-5u4e00q6 416 3 impaired impaired JJ cord-014712-5u4e00q6 416 4 killing killing NN cord-014712-5u4e00q6 416 5 of of IN cord-014712-5u4e00q6 416 6 bacteria bacteria NNS cord-014712-5u4e00q6 416 7 and and CC cord-014712-5u4e00q6 416 8 fungi fungus NNS cord-014712-5u4e00q6 416 9 . . . cord-014712-5u4e00q6 417 1 A a DT cord-014712-5u4e00q6 417 2 mutation mutation NN cord-014712-5u4e00q6 417 3 in in IN cord-014712-5u4e00q6 417 4 one one CD cord-014712-5u4e00q6 417 5 of of IN cord-014712-5u4e00q6 417 6 the the DT cord-014712-5u4e00q6 417 7 four four CD cord-014712-5u4e00q6 417 8 genes gene NNS cord-014712-5u4e00q6 417 9 encoding encode VBG cord-014712-5u4e00q6 417 10 the the DT cord-014712-5u4e00q6 417 11 components component NNS cord-014712-5u4e00q6 417 12 p22 p22 NNP cord-014712-5u4e00q6 417 13 phox phox NNP cord-014712-5u4e00q6 417 14 , , , cord-014712-5u4e00q6 417 15 p47 p47 CD cord-014712-5u4e00q6 417 16 phox phox NNP cord-014712-5u4e00q6 417 17 , , , cord-014712-5u4e00q6 417 18 p67 p67 NNP cord-014712-5u4e00q6 417 19 phox phox NNP cord-014712-5u4e00q6 417 20 and and CC cord-014712-5u4e00q6 417 21 p40 p40 CD cord-014712-5u4e00q6 417 22 phox phox NNS cord-014712-5u4e00q6 417 23 of of IN cord-014712-5u4e00q6 417 24 the the DT cord-014712-5u4e00q6 417 25 leukocyte leukocyte NN cord-014712-5u4e00q6 418 1 NADPH NADPH NNP cord-014712-5u4e00q6 418 2 oxidase oxidase NN cord-014712-5u4e00q6 418 3 leads lead VBZ cord-014712-5u4e00q6 418 4 to to IN cord-014712-5u4e00q6 418 5 autosomal autosomal JJ cord-014712-5u4e00q6 418 6 recessive recessive JJ cord-014712-5u4e00q6 418 7 ( ( -LRB- cord-014712-5u4e00q6 418 8 AR)-CGD ar)-cgd NN cord-014712-5u4e00q6 418 9 . . . cord-014712-5u4e00q6 419 1 A a DT cord-014712-5u4e00q6 419 2 mutation mutation NN cord-014712-5u4e00q6 419 3 in in IN cord-014712-5u4e00q6 419 4 the the DT cord-014712-5u4e00q6 419 5 CYBB CYBB NNP cord-014712-5u4e00q6 419 6 gene gene NN cord-014712-5u4e00q6 419 7 encoding encoding NN cord-014712-5u4e00q6 419 8 gp91 gp91 NN cord-014712-5u4e00q6 419 9 phox phox NNP cord-014712-5u4e00q6 419 10 leads lead VBZ cord-014712-5u4e00q6 419 11 to to IN cord-014712-5u4e00q6 419 12 X x NN cord-014712-5u4e00q6 419 13 - - HYPH cord-014712-5u4e00q6 419 14 linked link VBN cord-014712-5u4e00q6 419 15 recessive recessive JJ cord-014712-5u4e00q6 419 16 CGD CGD NNP cord-014712-5u4e00q6 419 17 . . . cord-014712-5u4e00q6 420 1 Methods method NNS cord-014712-5u4e00q6 420 2 : : : cord-014712-5u4e00q6 421 1 We -PRON- PRP cord-014712-5u4e00q6 421 2 report report VBP cord-014712-5u4e00q6 421 3 here here RB cord-014712-5u4e00q6 421 4 the the DT cord-014712-5u4e00q6 421 5 results result NNS cord-014712-5u4e00q6 421 6 of of IN cord-014712-5u4e00q6 421 7 genetically genetically RB cord-014712-5u4e00q6 421 8 and and CC cord-014712-5u4e00q6 421 9 functionally functionally RB cord-014712-5u4e00q6 421 10 characterized characterize VBN cord-014712-5u4e00q6 421 11 100 100 CD cord-014712-5u4e00q6 421 12 patients patient NNS cord-014712-5u4e00q6 421 13 with with IN cord-014712-5u4e00q6 421 14 CGD CGD NNP cord-014712-5u4e00q6 421 15 from from IN cord-014712-5u4e00q6 421 16 83 83 CD cord-014712-5u4e00q6 421 17 Turkish turkish JJ cord-014712-5u4e00q6 421 18 families family NNS cord-014712-5u4e00q6 421 19 in in IN cord-014712-5u4e00q6 421 20 Turkey Turkey NNP cord-014712-5u4e00q6 421 21 . . . cord-014712-5u4e00q6 422 1 Results result NNS cord-014712-5u4e00q6 422 2 : : : cord-014712-5u4e00q6 423 1 Most Most JJS cord-014712-5u4e00q6 423 2 of of IN cord-014712-5u4e00q6 423 3 the the DT cord-014712-5u4e00q6 423 4 families family NNS cord-014712-5u4e00q6 423 5 ( ( -LRB- cord-014712-5u4e00q6 423 6 62 62 CD cord-014712-5u4e00q6 423 7 % % NN cord-014712-5u4e00q6 423 8 ) ) -RRB- cord-014712-5u4e00q6 423 9 have have VBP cord-014712-5u4e00q6 423 10 an an DT cord-014712-5u4e00q6 423 11 AR AR NNP cord-014712-5u4e00q6 423 12 genotype genotype NN cord-014712-5u4e00q6 423 13 ( ( -LRB- cord-014712-5u4e00q6 423 14 % % NN cord-014712-5u4e00q6 423 15 28 28 CD cord-014712-5u4e00q6 423 16 p22 p22 NN cord-014712-5u4e00q6 423 17 phox phox NNP cord-014712-5u4e00q6 423 18 , , , cord-014712-5u4e00q6 423 19 % % NN cord-014712-5u4e00q6 423 20 20 20 CD cord-014712-5u4e00q6 423 21 p47 p47 CD cord-014712-5u4e00q6 423 22 phox phox NN cord-014712-5u4e00q6 423 23 and and CC cord-014712-5u4e00q6 423 24 % % NN cord-014712-5u4e00q6 423 25 14 14 CD cord-014712-5u4e00q6 423 26 p67 p67 NNP cord-014712-5u4e00q6 423 27 phox phox NNP cord-014712-5u4e00q6 423 28 ) ) -RRB- cord-014712-5u4e00q6 423 29 and and CC cord-014712-5u4e00q6 423 30 38 38 CD cord-014712-5u4e00q6 423 31 % % NN cord-014712-5u4e00q6 423 32 have have VBP cord-014712-5u4e00q6 423 33 an an DT cord-014712-5u4e00q6 423 34 X x NN cord-014712-5u4e00q6 423 35 - - HYPH cord-014712-5u4e00q6 423 36 linked link VBN cord-014712-5u4e00q6 423 37 genotype genotype NN cord-014712-5u4e00q6 423 38 . . . cord-014712-5u4e00q6 424 1 Patients patient NNS cord-014712-5u4e00q6 424 2 with with IN cord-014712-5u4e00q6 424 3 A22 A22 NNP cord-014712-5u4e00q6 424 4 0 0 CD cord-014712-5u4e00q6 424 5 , , , cord-014712-5u4e00q6 424 6 A67 A67 NNP cord-014712-5u4e00q6 424 7 0 0 CD cord-014712-5u4e00q6 424 8 and and CC cord-014712-5u4e00q6 424 9 X91 x91 JJ cord-014712-5u4e00q6 424 10 0 0 CD cord-014712-5u4e00q6 424 11 phenotypes phenotype NNS cord-014712-5u4e00q6 424 12 with with IN cord-014712-5u4e00q6 424 13 oxidase oxidase NN cord-014712-5u4e00q6 424 14 null null NN cord-014712-5u4e00q6 424 15 activity activity NN cord-014712-5u4e00q6 425 1 ( ( -LRB- cord-014712-5u4e00q6 425 2 DHR DHR NNP cord-014712-5u4e00q6 425 3 stimulation stimulation NN cord-014712-5u4e00q6 425 4 index index NN cord-014712-5u4e00q6 425 5 of of IN cord-014712-5u4e00q6 425 6 ≤1.5 ≤1.5 NNP cord-014712-5u4e00q6 425 7 ) ) -RRB- cord-014712-5u4e00q6 425 8 were be VBD cord-014712-5u4e00q6 425 9 found find VBN cord-014712-5u4e00q6 425 10 in in IN cord-014712-5u4e00q6 425 11 73 73 CD cord-014712-5u4e00q6 425 12 patients patient NNS cord-014712-5u4e00q6 425 13 . . . cord-014712-5u4e00q6 426 1 However however RB cord-014712-5u4e00q6 426 2 , , , cord-014712-5u4e00q6 426 3 in in IN cord-014712-5u4e00q6 426 4 p47 p47 CD cord-014712-5u4e00q6 426 5 phox phox NN cord-014712-5u4e00q6 426 6 deficient deficient JJ cord-014712-5u4e00q6 426 7 cases case NNS cord-014712-5u4e00q6 426 8 and and CC cord-014712-5u4e00q6 426 9 in in IN cord-014712-5u4e00q6 426 10 7 7 CD cord-014712-5u4e00q6 426 11 other other JJ cord-014712-5u4e00q6 426 12 AR AR NNP cord-014712-5u4e00q6 426 13 cases case NNS cord-014712-5u4e00q6 426 14 with with IN cord-014712-5u4e00q6 426 15 high high JJ cord-014712-5u4e00q6 426 16 residual residual JJ cord-014712-5u4e00q6 426 17 oxidase oxidase NN cord-014712-5u4e00q6 426 18 activity activity NN cord-014712-5u4e00q6 426 19 ( ( -LRB- cord-014712-5u4e00q6 426 20 DHR DHR NNP cord-014712-5u4e00q6 426 21 stimulation stimulation NN cord-014712-5u4e00q6 426 22 index index NN cord-014712-5u4e00q6 426 23 ≥3 ≥3 NNP cord-014712-5u4e00q6 426 24 ) ) -RRB- cord-014712-5u4e00q6 426 25 were be VBD cord-014712-5u4e00q6 426 26 found find VBN cord-014712-5u4e00q6 426 27 in in IN cord-014712-5u4e00q6 426 28 27 27 CD cord-014712-5u4e00q6 426 29 patients patient NNS cord-014712-5u4e00q6 426 30 . . . cord-014712-5u4e00q6 427 1 Conclusions conclusion NNS cord-014712-5u4e00q6 427 2 : : : cord-014712-5u4e00q6 428 1 Residual residual JJ cord-014712-5u4e00q6 428 2 oxidase oxidase NN cord-014712-5u4e00q6 428 3 activity activity NN cord-014712-5u4e00q6 428 4 is be VBZ cord-014712-5u4e00q6 428 5 similarly similarly RB cord-014712-5u4e00q6 428 6 lack lack JJ cord-014712-5u4e00q6 428 7 in in IN cord-014712-5u4e00q6 428 8 the the DT cord-014712-5u4e00q6 428 9 X91 X91 NNP cord-014712-5u4e00q6 428 10 0 0 NFP cord-014712-5u4e00q6 428 11 , , , cord-014712-5u4e00q6 428 12 A22 A22 NNP cord-014712-5u4e00q6 428 13 0 0 NFP cord-014712-5u4e00q6 428 14 and and CC cord-014712-5u4e00q6 428 15 A67 a67 NN cord-014712-5u4e00q6 428 16 0 0 CD cord-014712-5u4e00q6 428 17 phenotype phenotype NN cord-014712-5u4e00q6 428 18 except except IN cord-014712-5u4e00q6 428 19 7 7 CD cord-014712-5u4e00q6 428 20 AR AR NNP cord-014712-5u4e00q6 428 21 cases case NNS cord-014712-5u4e00q6 428 22 with with IN cord-014712-5u4e00q6 428 23 missense missense NN cord-014712-5u4e00q6 428 24 mutation mutation NN cord-014712-5u4e00q6 428 25 . . . cord-014712-5u4e00q6 429 1 In in IN cord-014712-5u4e00q6 429 2 our -PRON- PRP$ cord-014712-5u4e00q6 429 3 cohort cohort NN cord-014712-5u4e00q6 429 4 , , , cord-014712-5u4e00q6 429 5 the the DT cord-014712-5u4e00q6 429 6 percentage percentage NN cord-014712-5u4e00q6 429 7 of of IN cord-014712-5u4e00q6 429 8 AR AR NNP cord-014712-5u4e00q6 429 9 - - HYPH cord-014712-5u4e00q6 429 10 CGD CGD NNP cord-014712-5u4e00q6 429 11 was be VBD cord-014712-5u4e00q6 429 12 different different JJ cord-014712-5u4e00q6 429 13 from from IN cord-014712-5u4e00q6 429 14 European european JJ cord-014712-5u4e00q6 429 15 and and CC cord-014712-5u4e00q6 429 16 USA USA NNP cord-014712-5u4e00q6 429 17 registries registry NNS cord-014712-5u4e00q6 429 18 ( ( -LRB- cord-014712-5u4e00q6 429 19 in in IN cord-014712-5u4e00q6 429 20 comparison comparison NN cord-014712-5u4e00q6 429 21 with with IN cord-014712-5u4e00q6 429 22 % % NN cord-014712-5u4e00q6 429 23 5 5 CD cord-014712-5u4e00q6 429 24 , , , cord-014712-5u4e00q6 429 25 % % NN cord-014712-5u4e00q6 429 26 5 5 CD cord-014712-5u4e00q6 429 27 and and CC cord-014712-5u4e00q6 429 28 30 30 CD cord-014712-5u4e00q6 429 29 % % NN cord-014712-5u4e00q6 429 30 of of IN cord-014712-5u4e00q6 429 31 p22 p22 NN cord-014712-5u4e00q6 429 32 phox phox NNP cord-014712-5u4e00q6 429 33 , , , cord-014712-5u4e00q6 429 34 p67 p67 NNP cord-014712-5u4e00q6 429 35 phox phox NNP cord-014712-5u4e00q6 429 36 and and CC cord-014712-5u4e00q6 429 37 p47 p47 CD cord-014712-5u4e00q6 429 38 phox phox NNP cord-014712-5u4e00q6 429 39 deficient deficient JJ cord-014712-5u4e00q6 429 40 AR AR NNP cord-014712-5u4e00q6 429 41 - - HYPH cord-014712-5u4e00q6 429 42 CGD CGD NNP cord-014712-5u4e00q6 429 43 cases case NNS cord-014712-5u4e00q6 429 44 , , , cord-014712-5u4e00q6 429 45 respectively respectively RB cord-014712-5u4e00q6 429 46 ) ) -RRB- cord-014712-5u4e00q6 429 47 with with IN cord-014712-5u4e00q6 429 48 the the DT cord-014712-5u4e00q6 429 49 higher high JJR cord-014712-5u4e00q6 429 50 percentage percentage NN cord-014712-5u4e00q6 429 51 of of IN cord-014712-5u4e00q6 429 52 patients patient NNS cord-014712-5u4e00q6 429 53 with with IN cord-014712-5u4e00q6 429 54 p22 p22 NN cord-014712-5u4e00q6 429 55 phox phox NNP cord-014712-5u4e00q6 429 56 ( ( -LRB- cord-014712-5u4e00q6 429 57 28 28 CD cord-014712-5u4e00q6 429 58 % % NN cord-014712-5u4e00q6 429 59 ) ) -RRB- cord-014712-5u4e00q6 429 60 and and CC cord-014712-5u4e00q6 430 1 p67 p67 NNP cord-014712-5u4e00q6 430 2 phox phox NNP cord-014712-5u4e00q6 430 3 -deficent -deficent . cord-014712-5u4e00q6 431 1 ( ( -LRB- cord-014712-5u4e00q6 431 2 14 14 CD cord-014712-5u4e00q6 431 3 % % NN cord-014712-5u4e00q6 431 4 ) ) -RRB- cord-014712-5u4e00q6 431 5 phenotypes phenotype NNS cord-014712-5u4e00q6 431 6 , , , cord-014712-5u4e00q6 431 7 and and CC cord-014712-5u4e00q6 431 8 the the DT cord-014712-5u4e00q6 431 9 lower low JJR cord-014712-5u4e00q6 431 10 percentage percentage NN cord-014712-5u4e00q6 431 11 of of IN cord-014712-5u4e00q6 431 12 patients patient NNS cord-014712-5u4e00q6 431 13 with with IN cord-014712-5u4e00q6 432 1 p47 p47 CD cord-014712-5u4e00q6 432 2 phox phox NNP cord-014712-5u4e00q6 432 3 -deficient -deficient : cord-014712-5u4e00q6 432 4 ( ( -LRB- cord-014712-5u4e00q6 432 5 20 20 CD cord-014712-5u4e00q6 432 6 % % NN cord-014712-5u4e00q6 432 7 ) ) -RRB- cord-014712-5u4e00q6 432 8 phenotype phenotype NN cord-014712-5u4e00q6 432 9 . . . cord-014712-5u4e00q6 433 1 The the DT cord-014712-5u4e00q6 433 2 basic basic JJ cord-014712-5u4e00q6 433 3 difference difference NN cord-014712-5u4e00q6 433 4 in in IN cord-014712-5u4e00q6 433 5 our -PRON- PRP$ cord-014712-5u4e00q6 433 6 results result NNS cord-014712-5u4e00q6 433 7 from from IN cord-014712-5u4e00q6 433 8 those those DT cord-014712-5u4e00q6 433 9 reported report VBN cord-014712-5u4e00q6 433 10 is be VBZ cord-014712-5u4e00q6 433 11 the the DT cord-014712-5u4e00q6 433 12 higher high JJR cord-014712-5u4e00q6 433 13 percentage percentage NN cord-014712-5u4e00q6 433 14 of of IN cord-014712-5u4e00q6 433 15 patients patient NNS cord-014712-5u4e00q6 433 16 with with IN cord-014712-5u4e00q6 433 17 AR AR NNP cord-014712-5u4e00q6 433 18 - - HYPH cord-014712-5u4e00q6 433 19 CGD CGD NNP cord-014712-5u4e00q6 433 20 ( ( -LRB- cord-014712-5u4e00q6 433 21 % % NN cord-014712-5u4e00q6 433 22 62 62 CD cord-014712-5u4e00q6 433 23 ) ) -RRB- cord-014712-5u4e00q6 433 24 , , , cord-014712-5u4e00q6 433 25 which which WDT cord-014712-5u4e00q6 433 26 was be VBD cord-014712-5u4e00q6 433 27 lower low JJR cord-014712-5u4e00q6 433 28 than than IN cord-014712-5u4e00q6 433 29 in in IN cord-014712-5u4e00q6 433 30 the the DT cord-014712-5u4e00q6 433 31 European european JJ cord-014712-5u4e00q6 433 32 and and CC cord-014712-5u4e00q6 433 33 USA USA NNP cord-014712-5u4e00q6 433 34 registries registry NNS cord-014712-5u4e00q6 433 35 , , , cord-014712-5u4e00q6 433 36 probably probably RB cord-014712-5u4e00q6 433 37 because because IN cord-014712-5u4e00q6 433 38 of of IN cord-014712-5u4e00q6 433 39 the the DT cord-014712-5u4e00q6 433 40 higher high JJR cord-014712-5u4e00q6 433 41 prevalence prevalence NN cord-014712-5u4e00q6 433 42 of of IN cord-014712-5u4e00q6 433 43 consanguineous consanguineous JJ cord-014712-5u4e00q6 433 44 marriage marriage NN cord-014712-5u4e00q6 433 45 in in IN cord-014712-5u4e00q6 433 46 Turkey Turkey NNP cord-014712-5u4e00q6 433 47 . . . cord-014712-5u4e00q6 434 1 Introduction introduction NN cord-014712-5u4e00q6 434 2 : : : cord-014712-5u4e00q6 435 1 Schnitzler Schnitzler NNP cord-014712-5u4e00q6 435 2 syndrome syndrome NN cord-014712-5u4e00q6 435 3 is be VBZ cord-014712-5u4e00q6 435 4 an an DT cord-014712-5u4e00q6 435 5 autoinflammatory autoinflammatory JJ cord-014712-5u4e00q6 435 6 disorder disorder NN cord-014712-5u4e00q6 435 7 of of IN cord-014712-5u4e00q6 435 8 unknown unknown JJ cord-014712-5u4e00q6 435 9 etiology etiology NN cord-014712-5u4e00q6 435 10 . . . cord-014712-5u4e00q6 436 1 At at IN cord-014712-5u4e00q6 436 2 least least JJS cord-014712-5u4e00q6 436 3 some some DT cord-014712-5u4e00q6 436 4 of of IN cord-014712-5u4e00q6 436 5 its -PRON- PRP$ cord-014712-5u4e00q6 436 6 clinical clinical JJ cord-014712-5u4e00q6 436 7 presentation presentation NN cord-014712-5u4e00q6 436 8 is be VBZ cord-014712-5u4e00q6 436 9 mediated mediate VBN cord-014712-5u4e00q6 436 10 through through IN cord-014712-5u4e00q6 436 11 an an DT cord-014712-5u4e00q6 436 12 activation activation NN cord-014712-5u4e00q6 436 13 of of IN cord-014712-5u4e00q6 436 14 inflammasome inflammasome NN cord-014712-5u4e00q6 436 15 and and CC cord-014712-5u4e00q6 436 16 release release NN cord-014712-5u4e00q6 436 17 of of IN cord-014712-5u4e00q6 436 18 IL-1 IL-1 NNP cord-014712-5u4e00q6 436 19 , , , cord-014712-5u4e00q6 436 20 as as IN cord-014712-5u4e00q6 436 21 was be VBD cord-014712-5u4e00q6 436 22 repeatedly repeatedly RB cord-014712-5u4e00q6 436 23 demonstrated demonstrate VBN cord-014712-5u4e00q6 436 24 by by IN cord-014712-5u4e00q6 436 25 a a DT cord-014712-5u4e00q6 436 26 prominent prominent JJ cord-014712-5u4e00q6 436 27 therapeutic therapeutic JJ cord-014712-5u4e00q6 436 28 effect effect NN cord-014712-5u4e00q6 436 29 of of IN cord-014712-5u4e00q6 436 30 IL-1 IL-1 NNP cord-014712-5u4e00q6 436 31 blockade blockade NN cord-014712-5u4e00q6 436 32 . . . cord-014712-5u4e00q6 437 1 Recent recent JJ cord-014712-5u4e00q6 437 2 reports report NNS cord-014712-5u4e00q6 437 3 bring bring VBP cord-014712-5u4e00q6 437 4 an an DT cord-014712-5u4e00q6 437 5 evidence evidence NN cord-014712-5u4e00q6 437 6 of of IN cord-014712-5u4e00q6 437 7 an an DT cord-014712-5u4e00q6 437 8 important important JJ cord-014712-5u4e00q6 437 9 role role NN cord-014712-5u4e00q6 437 10 of of IN cord-014712-5u4e00q6 437 11 mitochondria mitochondrion NNS cord-014712-5u4e00q6 437 12 in in IN cord-014712-5u4e00q6 437 13 inflammasome inflammasome NNP cord-014712-5u4e00q6 437 14 activation activation NN cord-014712-5u4e00q6 437 15 and and CC cord-014712-5u4e00q6 437 16 in in IN cord-014712-5u4e00q6 437 17 a a DT cord-014712-5u4e00q6 437 18 pathogenesis pathogenesis NN cord-014712-5u4e00q6 437 19 of of IN cord-014712-5u4e00q6 437 20 autoinflammatory autoinflammatory JJ cord-014712-5u4e00q6 437 21 diseases disease NNS cord-014712-5u4e00q6 437 22 . . . cord-014712-5u4e00q6 438 1 We -PRON- PRP cord-014712-5u4e00q6 438 2 have have VBP cord-014712-5u4e00q6 438 3 therefore therefore RB cord-014712-5u4e00q6 438 4 investigated investigate VBN cord-014712-5u4e00q6 438 5 mitochondrial mitochondrial JJ cord-014712-5u4e00q6 438 6 function function NN cord-014712-5u4e00q6 438 7 and and CC cord-014712-5u4e00q6 438 8 structure structure NN cord-014712-5u4e00q6 438 9 in in IN cord-014712-5u4e00q6 438 10 patients patient NNS cord-014712-5u4e00q6 438 11 with with IN cord-014712-5u4e00q6 438 12 Schnitzler Schnitzler NNP cord-014712-5u4e00q6 438 13 syndrome syndrome NN cord-014712-5u4e00q6 438 14 . . . cord-014712-5u4e00q6 439 1 Materials material NNS cord-014712-5u4e00q6 439 2 and and CC cord-014712-5u4e00q6 439 3 methods method NNS cord-014712-5u4e00q6 439 4 : : : cord-014712-5u4e00q6 439 5 Activity activity NN cord-014712-5u4e00q6 439 6 and and CC cord-014712-5u4e00q6 439 7 amount amount NN cord-014712-5u4e00q6 439 8 of of IN cord-014712-5u4e00q6 439 9 oxidative oxidative JJ cord-014712-5u4e00q6 439 10 phosphorylation phosphorylation NN cord-014712-5u4e00q6 439 11 complexes complex NNS cord-014712-5u4e00q6 439 12 ( ( -LRB- cord-014712-5u4e00q6 439 13 OXPHOS OXPHOS NNP cord-014712-5u4e00q6 439 14 ) ) -RRB- cord-014712-5u4e00q6 439 15 were be VBD cord-014712-5u4e00q6 439 16 analysed analyse VBN cord-014712-5u4e00q6 439 17 by by IN cord-014712-5u4e00q6 439 18 spectrophotometry spectrophotometry NN cord-014712-5u4e00q6 439 19 , , , cord-014712-5u4e00q6 439 20 histochemistry histochemistry NNP cord-014712-5u4e00q6 439 21 and and CC cord-014712-5u4e00q6 439 22 imunoelectrophoretic imunoelectrophoretic JJ cord-014712-5u4e00q6 439 23 methods method NNS cord-014712-5u4e00q6 439 24 in in IN cord-014712-5u4e00q6 439 25 fibroblast fibroblast NN cord-014712-5u4e00q6 439 26 cell cell NN cord-014712-5u4e00q6 439 27 lines line NNS cord-014712-5u4e00q6 439 28 derived derive VBN cord-014712-5u4e00q6 439 29 from from IN cord-014712-5u4e00q6 439 30 skin skin NN cord-014712-5u4e00q6 439 31 biopsies biopsy NNS cord-014712-5u4e00q6 439 32 of of IN cord-014712-5u4e00q6 439 33 three three CD cord-014712-5u4e00q6 439 34 adult adult NN cord-014712-5u4e00q6 439 35 male male JJ cord-014712-5u4e00q6 439 36 patients patient NNS cord-014712-5u4e00q6 439 37 with with IN cord-014712-5u4e00q6 439 38 Schnitzler Schnitzler NNP cord-014712-5u4e00q6 439 39 syndrome syndrome NN cord-014712-5u4e00q6 439 40 . . . cord-014712-5u4e00q6 440 1 Ultrastructure Ultrastructure NNP cord-014712-5u4e00q6 440 2 of of IN cord-014712-5u4e00q6 440 3 mitochondria mitochondrion NNS cord-014712-5u4e00q6 440 4 , , , cord-014712-5u4e00q6 440 5 mitochondrial mitochondrial NN cord-014712-5u4e00q6 440 6 network network NN cord-014712-5u4e00q6 440 7 and and CC cord-014712-5u4e00q6 440 8 reactive reactive JJ cord-014712-5u4e00q6 440 9 oxygen oxygen NN cord-014712-5u4e00q6 440 10 species specie NNS cord-014712-5u4e00q6 441 1 ( ( -LRB- cord-014712-5u4e00q6 441 2 ROS ROS NNP cord-014712-5u4e00q6 441 3 ) ) -RRB- cord-014712-5u4e00q6 441 4 were be VBD cord-014712-5u4e00q6 441 5 analysed analyse VBN cord-014712-5u4e00q6 441 6 by by IN cord-014712-5u4e00q6 441 7 fluorescent fluorescent NN cord-014712-5u4e00q6 441 8 and and CC cord-014712-5u4e00q6 441 9 electron electron NN cord-014712-5u4e00q6 441 10 microscopy microscopy NN cord-014712-5u4e00q6 441 11 . . . cord-014712-5u4e00q6 442 1 Results result NNS cord-014712-5u4e00q6 442 2 : : : cord-014712-5u4e00q6 443 1 The the DT cord-014712-5u4e00q6 443 2 activities activity NNS cord-014712-5u4e00q6 443 3 and and CC cord-014712-5u4e00q6 443 4 amount amount NN cord-014712-5u4e00q6 443 5 of of IN cord-014712-5u4e00q6 443 6 OXPHOS OXPHOS NNP cord-014712-5u4e00q6 443 7 complexes complex NNS cord-014712-5u4e00q6 444 1 I -PRON- PRP cord-014712-5u4e00q6 444 2 , , , cord-014712-5u4e00q6 444 3 III III NNP cord-014712-5u4e00q6 444 4 and and CC cord-014712-5u4e00q6 444 5 IV IV NNP cord-014712-5u4e00q6 444 6 were be VBD cord-014712-5u4e00q6 444 7 decreased decrease VBN cord-014712-5u4e00q6 444 8 in in IN cord-014712-5u4e00q6 444 9 patients patient NNS cord-014712-5u4e00q6 444 10 with with IN cord-014712-5u4e00q6 444 11 Schnitzler Schnitzler NNP cord-014712-5u4e00q6 444 12 syndrome syndrome NN cord-014712-5u4e00q6 444 13 . . . cord-014712-5u4e00q6 445 1 Interindividual Interindividual NNP cord-014712-5u4e00q6 445 2 differences difference NNS cord-014712-5u4e00q6 445 3 in in IN cord-014712-5u4e00q6 445 4 the the DT cord-014712-5u4e00q6 445 5 degree degree NN cord-014712-5u4e00q6 445 6 of of IN cord-014712-5u4e00q6 445 7 impairment impairment NN cord-014712-5u4e00q6 445 8 ( ( -LRB- cord-014712-5u4e00q6 445 9 from from IN cord-014712-5u4e00q6 445 10 severe severe JJ cord-014712-5u4e00q6 445 11 to to IN cord-014712-5u4e00q6 445 12 moderate moderate JJ cord-014712-5u4e00q6 445 13 ) ) -RRB- cord-014712-5u4e00q6 445 14 in in IN cord-014712-5u4e00q6 445 15 analyzed analyze VBN cord-014712-5u4e00q6 445 16 mitochondrial mitochondrial JJ cord-014712-5u4e00q6 445 17 parameters parameter NNS cord-014712-5u4e00q6 445 18 were be VBD cord-014712-5u4e00q6 445 19 found find VBN cord-014712-5u4e00q6 445 20 . . . cord-014712-5u4e00q6 446 1 Content content NN cord-014712-5u4e00q6 446 2 of of IN cord-014712-5u4e00q6 446 3 ROS ROS NNP cord-014712-5u4e00q6 446 4 , , , cord-014712-5u4e00q6 446 5 previously previously RB cord-014712-5u4e00q6 446 6 suggested suggest VBD cord-014712-5u4e00q6 446 7 as as IN cord-014712-5u4e00q6 446 8 main main JJ cord-014712-5u4e00q6 446 9 inducers inducer NNS cord-014712-5u4e00q6 446 10 of of IN cord-014712-5u4e00q6 446 11 inflammasome inflammasome NNP cord-014712-5u4e00q6 446 12 , , , cord-014712-5u4e00q6 446 13 were be VBD cord-014712-5u4e00q6 446 14 not not RB cord-014712-5u4e00q6 446 15 significantly significantly RB cord-014712-5u4e00q6 446 16 increased increase VBN cord-014712-5u4e00q6 446 17 in in IN cord-014712-5u4e00q6 446 18 cells cell NNS cord-014712-5u4e00q6 446 19 with with IN cord-014712-5u4e00q6 446 20 Schnitzler Schnitzler NNP cord-014712-5u4e00q6 446 21 syndrome syndrome NN cord-014712-5u4e00q6 446 22 . . . cord-014712-5u4e00q6 447 1 We -PRON- PRP cord-014712-5u4e00q6 447 2 , , , cord-014712-5u4e00q6 447 3 however however RB cord-014712-5u4e00q6 447 4 , , , cord-014712-5u4e00q6 447 5 did do VBD cord-014712-5u4e00q6 447 6 find find VB cord-014712-5u4e00q6 447 7 consistent consistent JJ cord-014712-5u4e00q6 447 8 and and CC cord-014712-5u4e00q6 447 9 prominent prominent JJ cord-014712-5u4e00q6 447 10 changes change NNS cord-014712-5u4e00q6 447 11 in in IN cord-014712-5u4e00q6 447 12 mitochondrial mitochondrial JJ cord-014712-5u4e00q6 447 13 structure structure NN cord-014712-5u4e00q6 447 14 of of IN cord-014712-5u4e00q6 447 15 all all DT cord-014712-5u4e00q6 447 16 three three CD cord-014712-5u4e00q6 447 17 patients patient NNS cord-014712-5u4e00q6 447 18 . . . cord-014712-5u4e00q6 448 1 Disturbed disturbed JJ cord-014712-5u4e00q6 448 2 mitochondrial mitochondrial JJ cord-014712-5u4e00q6 448 3 network network NN cord-014712-5u4e00q6 448 4 and and CC cord-014712-5u4e00q6 448 5 mainly mainly RB cord-014712-5u4e00q6 448 6 abnormal abnormal JJ cord-014712-5u4e00q6 448 7 , , , cord-014712-5u4e00q6 448 8 partially partially RB cord-014712-5u4e00q6 448 9 swelling swell VBG cord-014712-5u4e00q6 448 10 mitochondria mitochondrion NNS cord-014712-5u4e00q6 448 11 with with IN cord-014712-5u4e00q6 448 12 unusual unusual JJ cord-014712-5u4e00q6 448 13 and and CC cord-014712-5u4e00q6 448 14 sparse sparse JJ cord-014712-5u4e00q6 448 15 cristae cristae NN cord-014712-5u4e00q6 448 16 were be VBD cord-014712-5u4e00q6 448 17 characteristic characteristic JJ cord-014712-5u4e00q6 448 18 for for IN cord-014712-5u4e00q6 448 19 all all DT cord-014712-5u4e00q6 448 20 patients patient NNS cord-014712-5u4e00q6 448 21 . . . cord-014712-5u4e00q6 449 1 We -PRON- PRP cord-014712-5u4e00q6 449 2 did do VBD cord-014712-5u4e00q6 449 3 further further RB cord-014712-5u4e00q6 449 4 notice notice VB cord-014712-5u4e00q6 449 5 marked mark VBN cord-014712-5u4e00q6 449 6 accumulation accumulation NN cord-014712-5u4e00q6 449 7 of of IN cord-014712-5u4e00q6 449 8 neutral neutral JJ cord-014712-5u4e00q6 449 9 lipids lipid NNS cord-014712-5u4e00q6 449 10 in in IN cord-014712-5u4e00q6 449 11 all all DT cord-014712-5u4e00q6 449 12 tested test VBN cord-014712-5u4e00q6 449 13 fibroblasts fibroblast NNS cord-014712-5u4e00q6 449 14 . . . cord-014712-5u4e00q6 450 1 Conclusion conclusion NN cord-014712-5u4e00q6 450 2 : : : cord-014712-5u4e00q6 451 1 Severe severe JJ cord-014712-5u4e00q6 451 2 structural structural JJ cord-014712-5u4e00q6 451 3 damage damage NN cord-014712-5u4e00q6 451 4 of of IN cord-014712-5u4e00q6 451 5 mitochondria mitochondrion NNS cord-014712-5u4e00q6 451 6 associated associate VBN cord-014712-5u4e00q6 451 7 with with IN cord-014712-5u4e00q6 451 8 milder mild JJR cord-014712-5u4e00q6 451 9 functional functional JJ cord-014712-5u4e00q6 451 10 changes change NNS cord-014712-5u4e00q6 451 11 represented represent VBD cord-014712-5u4e00q6 451 12 a a DT cord-014712-5u4e00q6 451 13 consistent consistent JJ cord-014712-5u4e00q6 451 14 feature feature NN cord-014712-5u4e00q6 451 15 found find VBN cord-014712-5u4e00q6 451 16 in in IN cord-014712-5u4e00q6 451 17 all all DT cord-014712-5u4e00q6 451 18 tested test VBN cord-014712-5u4e00q6 451 19 Schnitzler Schnitzler NNP cord-014712-5u4e00q6 451 20 syndrome syndrome NN cord-014712-5u4e00q6 451 21 patients patient NNS cord-014712-5u4e00q6 451 22 . . . cord-014712-5u4e00q6 452 1 Along along IN cord-014712-5u4e00q6 452 2 with with IN cord-014712-5u4e00q6 452 3 progress progress NN cord-014712-5u4e00q6 452 4 in in IN cord-014712-5u4e00q6 452 5 basic basic JJ cord-014712-5u4e00q6 452 6 and and CC cord-014712-5u4e00q6 452 7 clinical clinical JJ cord-014712-5u4e00q6 452 8 immunology immunology NN cord-014712-5u4e00q6 452 9 worldwide worldwide RB cord-014712-5u4e00q6 452 10 , , , cord-014712-5u4e00q6 452 11 the the DT cord-014712-5u4e00q6 452 12 knowledge knowledge NN cord-014712-5u4e00q6 452 13 and and CC cord-014712-5u4e00q6 452 14 activities activity NNS cord-014712-5u4e00q6 452 15 in in IN cord-014712-5u4e00q6 452 16 the the DT cord-014712-5u4e00q6 452 17 field field NN cord-014712-5u4e00q6 452 18 of of IN cord-014712-5u4e00q6 452 19 primary primary JJ cord-014712-5u4e00q6 452 20 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 452 21 ( ( -LRB- cord-014712-5u4e00q6 452 22 PIDs PIDs NNP cord-014712-5u4e00q6 452 23 ) ) -RRB- cord-014712-5u4e00q6 452 24 have have VBP cord-014712-5u4e00q6 452 25 developed develop VBN cord-014712-5u4e00q6 452 26 during during IN cord-014712-5u4e00q6 452 27 last last JJ cord-014712-5u4e00q6 452 28 two two CD cord-014712-5u4e00q6 452 29 decades decade NNS cord-014712-5u4e00q6 452 30 . . . cord-014712-5u4e00q6 453 1 In in IN cord-014712-5u4e00q6 453 2 1997 1997 CD cord-014712-5u4e00q6 453 3 , , , cord-014712-5u4e00q6 453 4 a a DT cord-014712-5u4e00q6 453 5 group group NN cord-014712-5u4e00q6 453 6 of of IN cord-014712-5u4e00q6 453 7 junior junior JJ cord-014712-5u4e00q6 453 8 doctors doctor NNS cord-014712-5u4e00q6 453 9 and and CC cord-014712-5u4e00q6 453 10 students student NNS cord-014712-5u4e00q6 453 11 joined join VBD cord-014712-5u4e00q6 453 12 seniors senior NNS cord-014712-5u4e00q6 453 13 in in IN cord-014712-5u4e00q6 453 14 this this DT cord-014712-5u4e00q6 453 15 filed file VBN cord-014712-5u4e00q6 453 16 to to TO cord-014712-5u4e00q6 453 17 establish establish VB cord-014712-5u4e00q6 453 18 Iranian iranian JJ cord-014712-5u4e00q6 453 19 Primary Primary NNP cord-014712-5u4e00q6 453 20 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 453 21 Registry Registry NNP cord-014712-5u4e00q6 453 22 ( ( -LRB- cord-014712-5u4e00q6 453 23 IPIDR IPIDR NNP cord-014712-5u4e00q6 453 24 ) ) -RRB- cord-014712-5u4e00q6 453 25 . . . cord-014712-5u4e00q6 454 1 Several several JJ cord-014712-5u4e00q6 454 2 national national JJ cord-014712-5u4e00q6 454 3 and and CC cord-014712-5u4e00q6 454 4 international international JJ cord-014712-5u4e00q6 454 5 research research NN cord-014712-5u4e00q6 454 6 projects project NNS cord-014712-5u4e00q6 454 7 have have VBP cord-014712-5u4e00q6 454 8 been be VBN cord-014712-5u4e00q6 454 9 done do VBN cord-014712-5u4e00q6 454 10 so so RB cord-014712-5u4e00q6 454 11 far far RB cord-014712-5u4e00q6 454 12 which which WDT cord-014712-5u4e00q6 454 13 led lead VBD cord-014712-5u4e00q6 454 14 to to IN cord-014712-5u4e00q6 454 15 lots lot NNS cord-014712-5u4e00q6 454 16 of of IN cord-014712-5u4e00q6 454 17 publications publication NNS cord-014712-5u4e00q6 454 18 , , , cord-014712-5u4e00q6 454 19 while while IN cord-014712-5u4e00q6 454 20 improving improve VBG cord-014712-5u4e00q6 454 21 the the DT cord-014712-5u4e00q6 454 22 diagnosis diagnosis NN cord-014712-5u4e00q6 454 23 of of IN cord-014712-5u4e00q6 454 24 patients patient NNS cord-014712-5u4e00q6 454 25 with with IN cord-014712-5u4e00q6 454 26 PIDs pid NNS cord-014712-5u4e00q6 454 27 , , , cord-014712-5u4e00q6 454 28 construction construction NN cord-014712-5u4e00q6 454 29 of of IN cord-014712-5u4e00q6 454 30 Iranian Iranian NNP cord-014712-5u4e00q6 454 31 Primary Primary NNP cord-014712-5u4e00q6 454 32 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 454 33 Association Association NNP cord-014712-5u4e00q6 454 34 ( ( -LRB- cord-014712-5u4e00q6 454 35 IPIA IPIA NNP cord-014712-5u4e00q6 454 36 ) ) -RRB- cord-014712-5u4e00q6 454 37 , , , cord-014712-5u4e00q6 454 38 and and CC cord-014712-5u4e00q6 454 39 establishment establishment NN cord-014712-5u4e00q6 454 40 of of IN cord-014712-5u4e00q6 454 41 Research Research NNP cord-014712-5u4e00q6 454 42 Center Center NNP cord-014712-5u4e00q6 454 43 for for IN cord-014712-5u4e00q6 454 44 Immunodeficiencies Immunodeficiencies NNP cord-014712-5u4e00q6 454 45 were be VBD cord-014712-5u4e00q6 454 46 other other JJ cord-014712-5u4e00q6 454 47 activities activity NNS cord-014712-5u4e00q6 454 48 which which WDT cord-014712-5u4e00q6 454 49 lead lead VBP cord-014712-5u4e00q6 454 50 to to IN cord-014712-5u4e00q6 454 51 better well JJR cord-014712-5u4e00q6 454 52 management management NN cord-014712-5u4e00q6 454 53 of of IN cord-014712-5u4e00q6 454 54 the the DT cord-014712-5u4e00q6 454 55 patients patient NNS cord-014712-5u4e00q6 454 56 . . . cord-014712-5u4e00q6 455 1 Organizing organize VBG cord-014712-5u4e00q6 455 2 annual annual JJ cord-014712-5u4e00q6 455 3 meeting meeting NN cord-014712-5u4e00q6 455 4 on on IN cord-014712-5u4e00q6 455 5 Clinical Clinical NNP cord-014712-5u4e00q6 455 6 Immunology Immunology NNP cord-014712-5u4e00q6 455 7 and and CC cord-014712-5u4e00q6 455 8 Immunodeficiencies Immunodeficiencies NNP cord-014712-5u4e00q6 455 9 , , , cord-014712-5u4e00q6 455 10 celebrating celebrate VBG cord-014712-5u4e00q6 455 11 PI pi NN cord-014712-5u4e00q6 455 12 week week NN cord-014712-5u4e00q6 455 13 annually annually RB cord-014712-5u4e00q6 455 14 and and CC cord-014712-5u4e00q6 455 15 active active JJ cord-014712-5u4e00q6 455 16 participation participation NN cord-014712-5u4e00q6 455 17 in in IN cord-014712-5u4e00q6 455 18 the the DT cord-014712-5u4e00q6 455 19 international international JJ cord-014712-5u4e00q6 455 20 congresses congress NNS cord-014712-5u4e00q6 455 21 were be VBD cord-014712-5u4e00q6 455 22 all all DT cord-014712-5u4e00q6 455 23 helped help VBN cord-014712-5u4e00q6 455 24 in in RP cord-014712-5u4e00q6 455 25 to to TO cord-014712-5u4e00q6 455 26 increase increase VB cord-014712-5u4e00q6 455 27 knowledge knowledge NN cord-014712-5u4e00q6 455 28 of of IN cord-014712-5u4e00q6 455 29 physicians physician NNS cord-014712-5u4e00q6 455 30 in in IN cord-014712-5u4e00q6 455 31 the the DT cord-014712-5u4e00q6 455 32 country country NN cord-014712-5u4e00q6 455 33 . . . cord-014712-5u4e00q6 456 1 The the DT cord-014712-5u4e00q6 456 2 overall overall JJ cord-014712-5u4e00q6 456 3 activities activity NNS cord-014712-5u4e00q6 456 4 in in IN cord-014712-5u4e00q6 456 5 the the DT cord-014712-5u4e00q6 456 6 field field NN cord-014712-5u4e00q6 456 7 of of IN cord-014712-5u4e00q6 456 8 PIDs pid NNS cord-014712-5u4e00q6 456 9 led lead VBD cord-014712-5u4e00q6 456 10 to to IN cord-014712-5u4e00q6 456 11 an an DT cord-014712-5u4e00q6 456 12 increased increase VBN cord-014712-5u4e00q6 456 13 trend trend NN cord-014712-5u4e00q6 456 14 in in IN cord-014712-5u4e00q6 456 15 recognition recognition NN cord-014712-5u4e00q6 456 16 of of IN cord-014712-5u4e00q6 456 17 more more JJR cord-014712-5u4e00q6 456 18 patients patient NNS cord-014712-5u4e00q6 456 19 in in IN cord-014712-5u4e00q6 456 20 the the DT cord-014712-5u4e00q6 456 21 recent recent JJ cord-014712-5u4e00q6 456 22 years year NNS cord-014712-5u4e00q6 456 23 , , , cord-014712-5u4e00q6 456 24 which which WDT cord-014712-5u4e00q6 456 25 was be VBD cord-014712-5u4e00q6 456 26 associated associate VBN cord-014712-5u4e00q6 456 27 with with IN cord-014712-5u4e00q6 456 28 decreased decrease VBN cord-014712-5u4e00q6 456 29 delay delay NN cord-014712-5u4e00q6 456 30 in in IN cord-014712-5u4e00q6 456 31 diagnosis diagnosis NN cord-014712-5u4e00q6 456 32 . . . cord-014712-5u4e00q6 457 1 Based base VBN cord-014712-5u4e00q6 457 2 on on IN cord-014712-5u4e00q6 457 3 recent recent JJ cord-014712-5u4e00q6 457 4 report report NN cord-014712-5u4e00q6 457 5 of of IN cord-014712-5u4e00q6 457 6 the the DT cord-014712-5u4e00q6 457 7 registry registry NN cord-014712-5u4e00q6 457 8 , , , cord-014712-5u4e00q6 457 9 published publish VBN cord-014712-5u4e00q6 457 10 recently recently RB cord-014712-5u4e00q6 457 11 in in IN cord-014712-5u4e00q6 457 12 the the DT cord-014712-5u4e00q6 457 13 J J NNP cord-014712-5u4e00q6 457 14 Clin Clin NNP cord-014712-5u4e00q6 457 15 Immunol Immunol NNP cord-014712-5u4e00q6 457 16 , , , cord-014712-5u4e00q6 457 17 more more JJR cord-014712-5u4e00q6 457 18 than than IN cord-014712-5u4e00q6 457 19 730 730 CD cord-014712-5u4e00q6 457 20 new new JJ cord-014712-5u4e00q6 457 21 patients patient NNS cord-014712-5u4e00q6 457 22 with with IN cord-014712-5u4e00q6 457 23 PID PID NNP cord-014712-5u4e00q6 457 24 , , , cord-014712-5u4e00q6 457 25 in in IN cord-014712-5u4e00q6 457 26 addition addition NN cord-014712-5u4e00q6 457 27 to to IN cord-014712-5u4e00q6 457 28 previously previously RB cord-014712-5u4e00q6 457 29 930 930 CD cord-014712-5u4e00q6 457 30 reported report VBN cord-014712-5u4e00q6 457 31 patients patient NNS cord-014712-5u4e00q6 457 32 , , , cord-014712-5u4e00q6 457 33 were be VBD cord-014712-5u4e00q6 457 34 presented present VBN cord-014712-5u4e00q6 457 35 . . . cord-014712-5u4e00q6 458 1 Predominantly predominantly RB cord-014712-5u4e00q6 458 2 antibody antibody NN cord-014712-5u4e00q6 458 3 deficiencies deficiency NNS cord-014712-5u4e00q6 458 4 were be VBD cord-014712-5u4e00q6 458 5 the the DT cord-014712-5u4e00q6 458 6 most most RBS cord-014712-5u4e00q6 458 7 common common JJ cord-014712-5u4e00q6 458 8 form form NN cord-014712-5u4e00q6 458 9 of of IN cord-014712-5u4e00q6 458 10 disease disease NN cord-014712-5u4e00q6 458 11 , , , cord-014712-5u4e00q6 458 12 followed follow VBN cord-014712-5u4e00q6 458 13 by by IN cord-014712-5u4e00q6 458 14 combined combined JJ cord-014712-5u4e00q6 458 15 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 458 16 , , , cord-014712-5u4e00q6 458 17 congenital congenital JJ cord-014712-5u4e00q6 458 18 defects defect NNS cord-014712-5u4e00q6 458 19 of of IN cord-014712-5u4e00q6 458 20 phagocytes phagocyte NNS cord-014712-5u4e00q6 458 21 , , , cord-014712-5u4e00q6 458 22 and and CC cord-014712-5u4e00q6 458 23 other other JJ cord-014712-5u4e00q6 458 24 well well RB cord-014712-5u4e00q6 458 25 - - HYPH cord-014712-5u4e00q6 458 26 defined define VBN cord-014712-5u4e00q6 458 27 syndromes syndrome NNS cord-014712-5u4e00q6 458 28 with with IN cord-014712-5u4e00q6 458 29 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 458 30 . . . cord-014712-5u4e00q6 459 1 The the DT cord-014712-5u4e00q6 459 2 rapid rapid JJ cord-014712-5u4e00q6 459 3 progress progress NN cord-014712-5u4e00q6 459 4 in in IN cord-014712-5u4e00q6 459 5 identification identification NN cord-014712-5u4e00q6 459 6 and and CC cord-014712-5u4e00q6 459 7 registration registration NN cord-014712-5u4e00q6 459 8 of of IN cord-014712-5u4e00q6 459 9 the the DT cord-014712-5u4e00q6 459 10 patients patient NNS cord-014712-5u4e00q6 459 11 with with IN cord-014712-5u4e00q6 459 12 PIDs pid NNS cord-014712-5u4e00q6 459 13 is be VBZ cord-014712-5u4e00q6 459 14 important important JJ cord-014712-5u4e00q6 459 15 not not RB cord-014712-5u4e00q6 459 16 only only RB cord-014712-5u4e00q6 459 17 as as IN cord-014712-5u4e00q6 459 18 of of IN cord-014712-5u4e00q6 459 19 epidemiological epidemiological JJ cord-014712-5u4e00q6 459 20 aspect aspect NN cord-014712-5u4e00q6 459 21 , , , cord-014712-5u4e00q6 459 22 but but CC cord-014712-5u4e00q6 459 23 also also RB cord-014712-5u4e00q6 459 24 as as IN cord-014712-5u4e00q6 459 25 of of IN cord-014712-5u4e00q6 459 26 timely timely JJ cord-014712-5u4e00q6 459 27 diagnosis diagnosis NN cord-014712-5u4e00q6 459 28 and and CC cord-014712-5u4e00q6 459 29 appropriate appropriate JJ cord-014712-5u4e00q6 459 30 treatment treatment NN cord-014712-5u4e00q6 459 31 of of IN cord-014712-5u4e00q6 459 32 the the DT cord-014712-5u4e00q6 459 33 patients patient NNS cord-014712-5u4e00q6 459 34 . . . cord-014712-5u4e00q6 460 1 The the DT cord-014712-5u4e00q6 460 2 J J NNP cord-014712-5u4e00q6 460 3 Project Project NNP cord-014712-5u4e00q6 460 4 physician physician NN cord-014712-5u4e00q6 460 5 education education NN cord-014712-5u4e00q6 460 6 and and CC cord-014712-5u4e00q6 460 7 clinical clinical JJ cord-014712-5u4e00q6 460 8 research research NN cord-014712-5u4e00q6 460 9 collaboration collaboration NN cord-014712-5u4e00q6 460 10 program program NN cord-014712-5u4e00q6 460 11 was be VBD cord-014712-5u4e00q6 460 12 launched launch VBN cord-014712-5u4e00q6 460 13 in in IN cord-014712-5u4e00q6 460 14 2004 2004 CD cord-014712-5u4e00q6 460 15 in in IN cord-014712-5u4e00q6 460 16 Eastern Eastern NNP cord-014712-5u4e00q6 460 17 and and CC cord-014712-5u4e00q6 460 18 Central Central NNP cord-014712-5u4e00q6 460 19 Europe Europe NNP cord-014712-5u4e00q6 460 20 ( ( -LRB- cord-014712-5u4e00q6 460 21 ECE ECE NNP cord-014712-5u4e00q6 460 22 ) ) -RRB- cord-014712-5u4e00q6 460 23 . . . cord-014712-5u4e00q6 461 1 In in IN cord-014712-5u4e00q6 461 2 less less JJR cord-014712-5u4e00q6 461 3 than than IN cord-014712-5u4e00q6 461 4 10 10 CD cord-014712-5u4e00q6 461 5 years year NNS cord-014712-5u4e00q6 461 6 , , , cord-014712-5u4e00q6 461 7 it -PRON- PRP cord-014712-5u4e00q6 461 8 has have VBZ cord-014712-5u4e00q6 461 9 achieved achieve VBN cord-014712-5u4e00q6 461 10 remarkable remarkable JJ cord-014712-5u4e00q6 461 11 success success NN cord-014712-5u4e00q6 461 12 . . . cord-014712-5u4e00q6 462 1 This this DT cord-014712-5u4e00q6 462 2 project project NN cord-014712-5u4e00q6 462 3 aims aim VBZ cord-014712-5u4e00q6 462 4 to to TO cord-014712-5u4e00q6 462 5 increase increase VB cord-014712-5u4e00q6 462 6 knowledge knowledge NN cord-014712-5u4e00q6 462 7 in in IN cord-014712-5u4e00q6 462 8 the the DT cord-014712-5u4e00q6 462 9 field field NN cord-014712-5u4e00q6 462 10 of of IN cord-014712-5u4e00q6 462 11 primary primary JJ cord-014712-5u4e00q6 462 12 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 462 13 disorders disorder NNS cord-014712-5u4e00q6 462 14 ( ( -LRB- cord-014712-5u4e00q6 462 15 PID PID NNP cord-014712-5u4e00q6 462 16 ) ) -RRB- cord-014712-5u4e00q6 462 17 , , , cord-014712-5u4e00q6 462 18 and and CC cord-014712-5u4e00q6 462 19 to to TO cord-014712-5u4e00q6 462 20 improve improve VB cord-014712-5u4e00q6 462 21 the the DT cord-014712-5u4e00q6 462 22 diagnosis diagnosis NN cord-014712-5u4e00q6 462 23 and and CC cord-014712-5u4e00q6 462 24 treatment treatment NN cord-014712-5u4e00q6 462 25 of of IN cord-014712-5u4e00q6 462 26 patients patient NNS cord-014712-5u4e00q6 462 27 worldwide worldwide RB cord-014712-5u4e00q6 462 28 , , , cord-014712-5u4e00q6 462 29 particularly particularly RB cord-014712-5u4e00q6 462 30 in in IN cord-014712-5u4e00q6 462 31 countries country NNS cord-014712-5u4e00q6 462 32 with with IN cord-014712-5u4e00q6 462 33 limited limited JJ cord-014712-5u4e00q6 462 34 economic economic JJ cord-014712-5u4e00q6 462 35 resources resource NNS cord-014712-5u4e00q6 462 36 , , , cord-014712-5u4e00q6 462 37 which which WDT cord-014712-5u4e00q6 462 38 currently currently RB cord-014712-5u4e00q6 462 39 report report VBP cord-014712-5u4e00q6 462 40 fewer few JJR cord-014712-5u4e00q6 462 41 such such JJ cord-014712-5u4e00q6 462 42 patients patient NNS cord-014712-5u4e00q6 462 43 than than IN cord-014712-5u4e00q6 462 44 expected expect VBN cord-014712-5u4e00q6 462 45 . . . cord-014712-5u4e00q6 463 1 In in IN cord-014712-5u4e00q6 463 2 most most JJS cord-014712-5u4e00q6 463 3 ECE ECE NNP cord-014712-5u4e00q6 463 4 countries country NNS cord-014712-5u4e00q6 463 5 , , , cord-014712-5u4e00q6 463 6 gene gene NN cord-014712-5u4e00q6 463 7 sequencing sequencing NN cord-014712-5u4e00q6 463 8 , , , cord-014712-5u4e00q6 463 9 which which WDT cord-014712-5u4e00q6 463 10 can can MD cord-014712-5u4e00q6 463 11 provide provide VB cord-014712-5u4e00q6 463 12 a a DT cord-014712-5u4e00q6 463 13 definitive definitive JJ cord-014712-5u4e00q6 463 14 diagnosis diagnosis NN cord-014712-5u4e00q6 463 15 of of IN cord-014712-5u4e00q6 463 16 PID PID NNP cord-014712-5u4e00q6 463 17 , , , cord-014712-5u4e00q6 463 18 still still RB cord-014712-5u4e00q6 463 19 remains remain VBZ cord-014712-5u4e00q6 463 20 unavailable unavailable JJ cord-014712-5u4e00q6 463 21 . . . cord-014712-5u4e00q6 464 1 By by IN cord-014712-5u4e00q6 464 2 contrast contrast NN cord-014712-5u4e00q6 464 3 , , , cord-014712-5u4e00q6 464 4 such such JJ cord-014712-5u4e00q6 464 5 technology technology NN cord-014712-5u4e00q6 464 6 is be VBZ cord-014712-5u4e00q6 464 7 used use VBN cord-014712-5u4e00q6 464 8 elsewhere elsewhere RB cord-014712-5u4e00q6 464 9 to to TO cord-014712-5u4e00q6 464 10 detect detect VB cord-014712-5u4e00q6 464 11 the the DT cord-014712-5u4e00q6 464 12 more more JJR cord-014712-5u4e00q6 464 13 than than IN cord-014712-5u4e00q6 464 14 200 200 CD cord-014712-5u4e00q6 464 15 PID pid NN cord-014712-5u4e00q6 464 16 - - HYPH cord-014712-5u4e00q6 464 17 causing cause VBG cord-014712-5u4e00q6 464 18 genes gene NNS cord-014712-5u4e00q6 464 19 that that WDT cord-014712-5u4e00q6 464 20 have have VBP cord-014712-5u4e00q6 464 21 been be VBN cord-014712-5u4e00q6 464 22 discovered discover VBN cord-014712-5u4e00q6 464 23 in in IN cord-014712-5u4e00q6 464 24 the the DT cord-014712-5u4e00q6 464 25 last last JJ cord-014712-5u4e00q6 464 26 three three CD cord-014712-5u4e00q6 464 27 decades decade NNS cord-014712-5u4e00q6 464 28 . . . cord-014712-5u4e00q6 465 1 Thus thus RB cord-014712-5u4e00q6 465 2 , , , cord-014712-5u4e00q6 465 3 PID PID NNP cord-014712-5u4e00q6 465 4 awareness awareness NN cord-014712-5u4e00q6 465 5 programs program NNS cord-014712-5u4e00q6 465 6 like like IN cord-014712-5u4e00q6 465 7 the the DT cord-014712-5u4e00q6 465 8 J J NNP cord-014712-5u4e00q6 465 9 Project Project NNP cord-014712-5u4e00q6 465 10 remain remain VBP cord-014712-5u4e00q6 465 11 critically critically RB cord-014712-5u4e00q6 465 12 important important JJ cord-014712-5u4e00q6 465 13 , , , cord-014712-5u4e00q6 465 14 to to TO cord-014712-5u4e00q6 465 15 improve improve VB cord-014712-5u4e00q6 465 16 diagnostic diagnostic JJ cord-014712-5u4e00q6 465 17 facilities facility NNS cord-014712-5u4e00q6 465 18 and and CC cord-014712-5u4e00q6 465 19 treatment treatment NN cord-014712-5u4e00q6 465 20 and and CC cord-014712-5u4e00q6 465 21 to to TO cord-014712-5u4e00q6 465 22 promote promote VB cord-014712-5u4e00q6 465 23 clinical clinical JJ cord-014712-5u4e00q6 465 24 research research NN cord-014712-5u4e00q6 465 25 collaboration collaboration NN cord-014712-5u4e00q6 465 26 . . . cord-014712-5u4e00q6 466 1 This this DT cord-014712-5u4e00q6 466 2 paper paper NN cord-014712-5u4e00q6 466 3 highlights highlight VBZ cord-014712-5u4e00q6 466 4 the the DT cord-014712-5u4e00q6 466 5 achievements achievement NNS cord-014712-5u4e00q6 466 6 of of IN cord-014712-5u4e00q6 466 7 the the DT cord-014712-5u4e00q6 466 8 J J NNP cord-014712-5u4e00q6 466 9 Project Project NNP cord-014712-5u4e00q6 466 10 and and CC cord-014712-5u4e00q6 466 11 the the DT cord-014712-5u4e00q6 466 12 spread spread NN cord-014712-5u4e00q6 466 13 of of IN cord-014712-5u4e00q6 466 14 its -PRON- PRP$ cord-014712-5u4e00q6 466 15 concepts concept NNS cord-014712-5u4e00q6 466 16 and and CC cord-014712-5u4e00q6 466 17 spirit spirit NN cord-014712-5u4e00q6 466 18 to to IN cord-014712-5u4e00q6 466 19 the the DT cord-014712-5u4e00q6 466 20 countries country NNS cord-014712-5u4e00q6 466 21 of of IN cord-014712-5u4e00q6 466 22 Western Western NNP cord-014712-5u4e00q6 466 23 Asia Asia NNP cord-014712-5u4e00q6 466 24 . . . cord-014712-5u4e00q6 467 1 Primary Primary NNP cord-014712-5u4e00q6 467 2 Immunodeficiencis Immunodeficiencis NNP cord-014712-5u4e00q6 467 3 ( ( -LRB- cord-014712-5u4e00q6 467 4 PID PID NNP cord-014712-5u4e00q6 467 5 ) ) -RRB- cord-014712-5u4e00q6 467 6 are be VBP cord-014712-5u4e00q6 467 7 rare rare JJ cord-014712-5u4e00q6 467 8 genetically genetically RB cord-014712-5u4e00q6 467 9 determined determine VBN cord-014712-5u4e00q6 467 10 diseases disease NNS cord-014712-5u4e00q6 467 11 , , , cord-014712-5u4e00q6 467 12 occurring occur VBG cord-014712-5u4e00q6 467 13 with with IN cord-014712-5u4e00q6 467 14 an an DT cord-014712-5u4e00q6 467 15 incidence incidence NN cord-014712-5u4e00q6 467 16 of of IN cord-014712-5u4e00q6 467 17 10 10 CD cord-014712-5u4e00q6 467 18 per per IN cord-014712-5u4e00q6 467 19 100 100 CD cord-014712-5u4e00q6 467 20 000 000 CD cord-014712-5u4e00q6 467 21 inhabitants inhabitant NNS cord-014712-5u4e00q6 467 22 . . . cord-014712-5u4e00q6 468 1 It -PRON- PRP cord-014712-5u4e00q6 468 2 is be VBZ cord-014712-5u4e00q6 468 3 heterogeneous heterogeneous JJ cord-014712-5u4e00q6 468 4 group group NN cord-014712-5u4e00q6 468 5 of of IN cord-014712-5u4e00q6 468 6 disorders disorder NNS cord-014712-5u4e00q6 468 7 , , , cord-014712-5u4e00q6 468 8 from from IN cord-014712-5u4e00q6 468 9 quite quite RB cord-014712-5u4e00q6 468 10 commonly commonly RB cord-014712-5u4e00q6 468 11 found find VBN cord-014712-5u4e00q6 468 12 and and CC cord-014712-5u4e00q6 468 13 usually usually RB cord-014712-5u4e00q6 468 14 asymptomatic asymptomatic JJ cord-014712-5u4e00q6 468 15 IgA IgA NNP cord-014712-5u4e00q6 468 16 deficiency deficiency NN cord-014712-5u4e00q6 468 17 ( ( -LRB- cord-014712-5u4e00q6 468 18 1 1 CD cord-014712-5u4e00q6 468 19 in in IN cord-014712-5u4e00q6 468 20 600 600 CD cord-014712-5u4e00q6 468 21 ) ) -RRB- cord-014712-5u4e00q6 468 22 , , , cord-014712-5u4e00q6 468 23 to to IN cord-014712-5u4e00q6 468 24 a a DT cord-014712-5u4e00q6 468 25 very very RB cord-014712-5u4e00q6 468 26 rare rare JJ cord-014712-5u4e00q6 468 27 diseases disease NNS cord-014712-5u4e00q6 468 28 such such JJ cord-014712-5u4e00q6 468 29 as as IN cord-014712-5u4e00q6 468 30 Chediak Chediak NNP cord-014712-5u4e00q6 468 31 -Higashi -Higashi . cord-014712-5u4e00q6 468 32 ( ( -LRB- cord-014712-5u4e00q6 468 33 1 1 CD cord-014712-5u4e00q6 468 34 in in IN cord-014712-5u4e00q6 468 35 2 2 CD cord-014712-5u4e00q6 468 36 000 000 CD cord-014712-5u4e00q6 468 37 000 000 CD cord-014712-5u4e00q6 468 38 inhabitants inhabitant NNS cord-014712-5u4e00q6 468 39 ) ) -RRB- cord-014712-5u4e00q6 468 40 . . . cord-014712-5u4e00q6 469 1 In in IN cord-014712-5u4e00q6 469 2 2005 2005 CD cord-014712-5u4e00q6 469 3 , , , cord-014712-5u4e00q6 469 4 within within IN cord-014712-5u4e00q6 469 5 the the DT cord-014712-5u4e00q6 469 6 framework framework NN cord-014712-5u4e00q6 469 7 of of IN cord-014712-5u4e00q6 469 8 a a DT cord-014712-5u4e00q6 469 9 government government NN cord-014712-5u4e00q6 469 10 research research NN cord-014712-5u4e00q6 469 11 project project NN cord-014712-5u4e00q6 470 1 No no UH cord-014712-5u4e00q6 470 2 . . . cord-014712-5u4e00q6 471 1 PBZ PBZ NNP cord-014712-5u4e00q6 471 2 - - HYPH cord-014712-5u4e00q6 471 3 KBN-119/ KBN-119/ NNS cord-014712-5u4e00q6 472 1 P05/ P05/ NNP cord-014712-5u4e00q6 472 2 2005 2005 CD cord-014712-5u4e00q6 473 1 - - : cord-014712-5u4e00q6 473 2 " " `` cord-014712-5u4e00q6 473 3 Development development NN cord-014712-5u4e00q6 473 4 , , , cord-014712-5u4e00q6 473 5 improvement improvement NN cord-014712-5u4e00q6 473 6 and and CC cord-014712-5u4e00q6 473 7 implementation implementation NN cord-014712-5u4e00q6 473 8 of of IN cord-014712-5u4e00q6 473 9 highly highly RB cord-014712-5u4e00q6 473 10 specialized specialized JJ cord-014712-5u4e00q6 473 11 diagnostic diagnostic JJ cord-014712-5u4e00q6 473 12 procedures procedure NNS cord-014712-5u4e00q6 473 13 for for IN cord-014712-5u4e00q6 473 14 immune immune NN cord-014712-5u4e00q6 473 15 - - HYPH cord-014712-5u4e00q6 473 16 mediated mediate VBN cord-014712-5u4e00q6 473 17 diseases disease NNS cord-014712-5u4e00q6 473 18 " " '' cord-014712-5u4e00q6 473 19 , , , cord-014712-5u4e00q6 473 20 a a DT cord-014712-5u4e00q6 473 21 network network NN cord-014712-5u4e00q6 473 22 of of IN cord-014712-5u4e00q6 473 23 cooperating cooperate VBG cord-014712-5u4e00q6 473 24 national national JJ cord-014712-5u4e00q6 473 25 centers center NNS cord-014712-5u4e00q6 473 26 for for IN cord-014712-5u4e00q6 473 27 diagnosis diagnosis NN cord-014712-5u4e00q6 473 28 and and CC cord-014712-5u4e00q6 473 29 treatment treatment NN cord-014712-5u4e00q6 473 30 of of IN cord-014712-5u4e00q6 473 31 PID PID NNP cord-014712-5u4e00q6 473 32 , , , cord-014712-5u4e00q6 473 33 named name VBN cord-014712-5u4e00q6 473 34 Polish Polish NNP cord-014712-5u4e00q6 473 35 Working Working NNP cord-014712-5u4e00q6 473 36 Group Group NNP cord-014712-5u4e00q6 473 37 on on IN cord-014712-5u4e00q6 473 38 Primary Primary NNP cord-014712-5u4e00q6 473 39 Immunodeficiencies Immunodeficiencies NNP cord-014712-5u4e00q6 473 40 ( ( -LRB- cord-014712-5u4e00q6 473 41 PGR PGR NNP cord-014712-5u4e00q6 473 42 PNO PNO NNP cord-014712-5u4e00q6 473 43 ) ) -RRB- cord-014712-5u4e00q6 473 44 was be VBD cord-014712-5u4e00q6 473 45 founded found VBN cord-014712-5u4e00q6 473 46 . . . cord-014712-5u4e00q6 474 1 As as IN cord-014712-5u4e00q6 474 2 a a DT cord-014712-5u4e00q6 474 3 result result NN cord-014712-5u4e00q6 474 4 of of IN cord-014712-5u4e00q6 474 5 joint joint JJ cord-014712-5u4e00q6 474 6 efforts effort NNS cord-014712-5u4e00q6 474 7 of of IN cord-014712-5u4e00q6 474 8 the the DT cord-014712-5u4e00q6 474 9 Group Group NNP cord-014712-5u4e00q6 474 10 as as RB cord-014712-5u4e00q6 474 11 well well RB cord-014712-5u4e00q6 474 12 as as IN cord-014712-5u4e00q6 474 13 an an DT cord-014712-5u4e00q6 474 14 implementation implementation NN cord-014712-5u4e00q6 474 15 of of IN cord-014712-5u4e00q6 474 16 three three CD cord-014712-5u4e00q6 474 17 EU EU NNP cord-014712-5u4e00q6 474 18 grants grant NNS cord-014712-5u4e00q6 474 19 [ [ -LRB- cord-014712-5u4e00q6 474 20 EURO EURO NNP cord-014712-5u4e00q6 474 21 - - HYPH cord-014712-5u4e00q6 474 22 PID PID NNP cord-014712-5u4e00q6 474 23 -NAS -NAS : cord-014712-5u4e00q6 474 24 QLRT QLRT NNP cord-014712-5u4e00q6 475 1 -2001 -2001 : cord-014712-5u4e00q6 476 1 -0274 -0274 . cord-014712-5u4e00q6 477 1 ( ( -LRB- cord-014712-5u4e00q6 477 2 2001 2001 CD cord-014712-5u4e00q6 477 3 -2004 -2004 NNP cord-014712-5u4e00q6 477 4 , , , cord-014712-5u4e00q6 477 5 EURO EURO NNP cord-014712-5u4e00q6 477 6 - - HYPH cord-014712-5u4e00q6 477 7 POLICY POLICY NNP cord-014712-5u4e00q6 477 8 -PID -pid ADD cord-014712-5u4e00q6 478 1 SP23 SP23 NNP cord-014712-5u4e00q6 478 2 -CT-2005 -CT-2005 NNP cord-014712-5u4e00q6 478 3 - - HYPH cord-014712-5u4e00q6 478 4 006411 006411 CD cord-014712-5u4e00q6 479 1 , , , cord-014712-5u4e00q6 479 2 EURO EURO NNP cord-014712-5u4e00q6 479 3 - - HYPH cord-014712-5u4e00q6 479 4 GENE GENE NNP cord-014712-5u4e00q6 479 5 -SCAN -SCAN . cord-014712-5u4e00q6 480 1 ( ( -LRB- cord-014712-5u4e00q6 480 2 223 223 CD cord-014712-5u4e00q6 480 3 , , , cord-014712-5u4e00q6 480 4 293 293 CD cord-014712-5u4e00q6 480 5 ) ) -RRB- cord-014712-5u4e00q6 480 6 ] ] -RRB- cord-014712-5u4e00q6 481 1 the the DT cord-014712-5u4e00q6 481 2 number number NN cord-014712-5u4e00q6 481 3 of of IN cord-014712-5u4e00q6 481 4 centers center NNS cord-014712-5u4e00q6 481 5 actively actively RB cord-014712-5u4e00q6 481 6 working work VBG cord-014712-5u4e00q6 481 7 in in IN cord-014712-5u4e00q6 481 8 the the DT cord-014712-5u4e00q6 481 9 diagnosis diagnosis NN cord-014712-5u4e00q6 481 10 and and CC cord-014712-5u4e00q6 481 11 treatment treatment NN cord-014712-5u4e00q6 481 12 of of IN cord-014712-5u4e00q6 481 13 primary primary JJ cord-014712-5u4e00q6 481 14 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 481 15 increased increase VBD cord-014712-5u4e00q6 481 16 . . . cord-014712-5u4e00q6 482 1 Up up IN cord-014712-5u4e00q6 482 2 todate todate NN cord-014712-5u4e00q6 482 3 PGR PGR NNP cord-014712-5u4e00q6 482 4 PNO PNO NNP cord-014712-5u4e00q6 482 5 includes include VBZ cord-014712-5u4e00q6 482 6 15 15 CD cord-014712-5u4e00q6 482 7 pediatric pediatric JJ cord-014712-5u4e00q6 482 8 centers center NNS cord-014712-5u4e00q6 482 9 , , , cord-014712-5u4e00q6 482 10 and and CC cord-014712-5u4e00q6 482 11 since since IN cord-014712-5u4e00q6 482 12 2012 2012 CD cord-014712-5u4e00q6 482 13 -11 -11 IN cord-014712-5u4e00q6 482 14 centers center NNS cord-014712-5u4e00q6 482 15 for for IN cord-014712-5u4e00q6 482 16 adults adult NNS cord-014712-5u4e00q6 482 17 . . . cord-014712-5u4e00q6 483 1 Development development NN cord-014712-5u4e00q6 483 2 and and CC cord-014712-5u4e00q6 483 3 dissemination dissemination NN cord-014712-5u4e00q6 483 4 of of IN cord-014712-5u4e00q6 483 5 new new JJ cord-014712-5u4e00q6 483 6 diagnostic diagnostic JJ cord-014712-5u4e00q6 483 7 and and CC cord-014712-5u4e00q6 483 8 therapeutic therapeutic JJ cord-014712-5u4e00q6 483 9 standards standard NNS cord-014712-5u4e00q6 483 10 contributed contribute VBD cord-014712-5u4e00q6 483 11 significantly significantly RB cord-014712-5u4e00q6 483 12 to to IN cord-014712-5u4e00q6 483 13 the the DT cord-014712-5u4e00q6 483 14 increase increase NN cord-014712-5u4e00q6 483 15 in in IN cord-014712-5u4e00q6 483 16 detection detection NN cord-014712-5u4e00q6 483 17 PID pid NN cord-014712-5u4e00q6 483 18 . . . cord-014712-5u4e00q6 484 1 With with IN cord-014712-5u4e00q6 484 2 early early JJ cord-014712-5u4e00q6 484 3 diagnosis diagnosis NN cord-014712-5u4e00q6 484 4 of of IN cord-014712-5u4e00q6 484 5 the the DT cord-014712-5u4e00q6 484 6 disease disease NN cord-014712-5u4e00q6 484 7 -the -the ADD cord-014712-5u4e00q6 484 8 implementation implementation NN cord-014712-5u4e00q6 484 9 of of IN cord-014712-5u4e00q6 484 10 appropriate appropriate JJ cord-014712-5u4e00q6 484 11 treatment treatment NN cord-014712-5u4e00q6 484 12 , , , cord-014712-5u4e00q6 484 13 including include VBG cord-014712-5u4e00q6 484 14 gamma gamma NN cord-014712-5u4e00q6 484 15 globulin globulin NN cord-014712-5u4e00q6 484 16 replacement replacement NN cord-014712-5u4e00q6 484 17 therapy therapy NN cord-014712-5u4e00q6 484 18 together together RB cord-014712-5u4e00q6 484 19 with with IN cord-014712-5u4e00q6 484 20 quality quality NN cord-014712-5u4e00q6 484 21 of of IN cord-014712-5u4e00q6 484 22 life life NN cord-014712-5u4e00q6 484 23 has have VBZ cord-014712-5u4e00q6 484 24 improved improve VBN cord-014712-5u4e00q6 484 25 . . . cord-014712-5u4e00q6 485 1 In in IN cord-014712-5u4e00q6 485 2 spite spite NN cord-014712-5u4e00q6 485 3 of of IN cord-014712-5u4e00q6 485 4 all all DT cord-014712-5u4e00q6 485 5 efforts effort NNS cord-014712-5u4e00q6 485 6 recognition recognition NN cord-014712-5u4e00q6 485 7 of of IN cord-014712-5u4e00q6 485 8 PID PID NNP cord-014712-5u4e00q6 485 9 in in IN cord-014712-5u4e00q6 485 10 Poland Poland NNP cord-014712-5u4e00q6 485 11 is be VBZ cord-014712-5u4e00q6 485 12 very very RB cord-014712-5u4e00q6 485 13 rare rare JJ cord-014712-5u4e00q6 485 14 and and CC cord-014712-5u4e00q6 485 15 currently currently RB cord-014712-5u4e00q6 485 16 is be VBZ cord-014712-5u4e00q6 485 17 1.44 1.44 CD cord-014712-5u4e00q6 485 18 to to TO cord-014712-5u4e00q6 485 19 100 100 CD cord-014712-5u4e00q6 485 20 000 000 CD cord-014712-5u4e00q6 485 21 , , , cord-014712-5u4e00q6 485 22 what what WP cord-014712-5u4e00q6 485 23 is be VBZ cord-014712-5u4e00q6 485 24 almost almost RB cord-014712-5u4e00q6 485 25 10 10 CD cord-014712-5u4e00q6 485 26 times time NNS cord-014712-5u4e00q6 485 27 smaller small JJR cord-014712-5u4e00q6 485 28 than than IN cord-014712-5u4e00q6 485 29 in in IN cord-014712-5u4e00q6 485 30 Europe Europe NNP cord-014712-5u4e00q6 485 31 ( ( -LRB- cord-014712-5u4e00q6 485 32 www.ESID.org www.ESID.org NNP cord-014712-5u4e00q6 485 33 ) ) -RRB- cord-014712-5u4e00q6 485 34 . . . cord-014712-5u4e00q6 486 1 At at IN cord-014712-5u4e00q6 486 2 the the DT cord-014712-5u4e00q6 486 3 moment moment NN cord-014712-5u4e00q6 486 4 , , , cord-014712-5u4e00q6 486 5 a a DT cord-014712-5u4e00q6 486 6 nationwide nationwide JJ cord-014712-5u4e00q6 486 7 registry registry NN cord-014712-5u4e00q6 486 8 of of IN cord-014712-5u4e00q6 486 9 children child NNS cord-014712-5u4e00q6 486 10 and and CC cord-014712-5u4e00q6 486 11 adults adult NNS cord-014712-5u4e00q6 486 12 with with IN cord-014712-5u4e00q6 486 13 PID PID NNP cord-014712-5u4e00q6 486 14 consists consist VBZ cord-014712-5u4e00q6 486 15 of of IN cord-014712-5u4e00q6 486 16 3 3 CD cord-014712-5u4e00q6 486 17 368 368 CD cord-014712-5u4e00q6 486 18 patients patient NNS cord-014712-5u4e00q6 486 19 . . . cord-014712-5u4e00q6 487 1 In in IN cord-014712-5u4e00q6 487 2 September September NNP cord-014712-5u4e00q6 487 3 2013 2013 CD cord-014712-5u4e00q6 487 4 PGR PGR NNP cord-014712-5u4e00q6 487 5 -PNO -PNO -LRB- cord-014712-5u4e00q6 487 6 summarized summarize VBN cord-014712-5u4e00q6 487 7 in in IN cord-014712-5u4e00q6 487 8 the the DT cord-014712-5u4e00q6 487 9 annual annual JJ cord-014712-5u4e00q6 487 10 report report NN cord-014712-5u4e00q6 487 11 the the DT cord-014712-5u4e00q6 487 12 current current JJ cord-014712-5u4e00q6 487 13 status status NN cord-014712-5u4e00q6 487 14 of of IN cord-014712-5u4e00q6 487 15 the the DT cord-014712-5u4e00q6 487 16 substitution substitution NN cord-014712-5u4e00q6 487 17 therapy therapy NN cord-014712-5u4e00q6 487 18 with with IN cord-014712-5u4e00q6 487 19 intravenous intravenous JJ cord-014712-5u4e00q6 487 20 and and CC cord-014712-5u4e00q6 487 21 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 487 22 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 487 23 therapy therapy NN cord-014712-5u4e00q6 487 24 in in IN cord-014712-5u4e00q6 487 25 children child NNS cord-014712-5u4e00q6 487 26 and and CC cord-014712-5u4e00q6 487 27 adults adult NNS cord-014712-5u4e00q6 487 28 with with IN cord-014712-5u4e00q6 487 29 PID PID NNP cord-014712-5u4e00q6 487 30 in in IN cord-014712-5u4e00q6 487 31 Poland Poland NNP cord-014712-5u4e00q6 487 32 . . . cord-014712-5u4e00q6 488 1 On on IN cord-014712-5u4e00q6 488 2 the the DT cord-014712-5u4e00q6 488 3 basis basis NN cord-014712-5u4e00q6 488 4 of of IN cord-014712-5u4e00q6 488 5 available available JJ cord-014712-5u4e00q6 488 6 information information NN cord-014712-5u4e00q6 488 7 , , , cord-014712-5u4e00q6 488 8 half half NN cord-014712-5u4e00q6 488 9 of of IN cord-014712-5u4e00q6 488 10 all all DT cord-014712-5u4e00q6 488 11 patients patient NNS cord-014712-5u4e00q6 488 12 ( ( -LRB- cord-014712-5u4e00q6 488 13 1 1 CD cord-014712-5u4e00q6 488 14 684 684 CD cord-014712-5u4e00q6 488 15 children child NNS cord-014712-5u4e00q6 488 16 and and CC cord-014712-5u4e00q6 488 17 adults adult NNS cord-014712-5u4e00q6 488 18 ) ) -RRB- cord-014712-5u4e00q6 488 19 were be VBD cord-014712-5u4e00q6 488 20 diagnosed diagnose VBN cord-014712-5u4e00q6 488 21 to to TO cord-014712-5u4e00q6 488 22 have have VB cord-014712-5u4e00q6 488 23 antibody antibody NN cord-014712-5u4e00q6 488 24 deficiency deficiency NN cord-014712-5u4e00q6 488 25 . . . cord-014712-5u4e00q6 489 1 These these DT cord-014712-5u4e00q6 489 2 data datum NNS cord-014712-5u4e00q6 489 3 are be VBP cord-014712-5u4e00q6 489 4 similar similar JJ cord-014712-5u4e00q6 489 5 to to IN cord-014712-5u4e00q6 489 6 the the DT cord-014712-5u4e00q6 489 7 register register NN cord-014712-5u4e00q6 489 8 of of IN cord-014712-5u4e00q6 489 9 a a DT cord-014712-5u4e00q6 489 10 European european JJ cord-014712-5u4e00q6 489 11 database database NN cord-014712-5u4e00q6 489 12 ESID ESID NNP cord-014712-5u4e00q6 489 13 , , , cord-014712-5u4e00q6 489 14 where where WRB cord-014712-5u4e00q6 489 15 the the DT cord-014712-5u4e00q6 489 16 percentage percentage NN cord-014712-5u4e00q6 489 17 of of IN cord-014712-5u4e00q6 489 18 patients patient NNS cord-014712-5u4e00q6 489 19 with with IN cord-014712-5u4e00q6 489 20 PID PID NNP cord-014712-5u4e00q6 489 21 with with IN cord-014712-5u4e00q6 489 22 a a DT cord-014712-5u4e00q6 489 23 predominance predominance NN cord-014712-5u4e00q6 489 24 of of IN cord-014712-5u4e00q6 489 25 antibody antibody NN cord-014712-5u4e00q6 489 26 deficiency deficiency NN cord-014712-5u4e00q6 489 27 is be VBZ cord-014712-5u4e00q6 489 28 more more JJR cord-014712-5u4e00q6 489 29 than than IN cord-014712-5u4e00q6 489 30 56 56 CD cord-014712-5u4e00q6 489 31 % % NN cord-014712-5u4e00q6 490 1 ( ( -LRB- cord-014712-5u4e00q6 490 2 www.ESID.org www.ESID.org NNP cord-014712-5u4e00q6 490 3 ) ) -RRB- cord-014712-5u4e00q6 490 4 Development development NN cord-014712-5u4e00q6 490 5 and and CC cord-014712-5u4e00q6 490 6 dissemination dissemination NN cord-014712-5u4e00q6 490 7 of of IN cord-014712-5u4e00q6 490 8 new new JJ cord-014712-5u4e00q6 490 9 diagnostic diagnostic JJ cord-014712-5u4e00q6 490 10 and and CC cord-014712-5u4e00q6 490 11 therapeutic therapeutic JJ cord-014712-5u4e00q6 490 12 standards standard NNS cord-014712-5u4e00q6 490 13 as as RB cord-014712-5u4e00q6 490 14 well well RB cord-014712-5u4e00q6 490 15 as as IN cord-014712-5u4e00q6 490 16 a a DT cord-014712-5u4e00q6 490 17 national national JJ cord-014712-5u4e00q6 490 18 cooperation cooperation NN cord-014712-5u4e00q6 490 19 contribute contribute VB cord-014712-5u4e00q6 490 20 significantly significantly RB cord-014712-5u4e00q6 490 21 to to IN cord-014712-5u4e00q6 490 22 the the DT cord-014712-5u4e00q6 490 23 increased increase VBN cord-014712-5u4e00q6 490 24 detection detection NN cord-014712-5u4e00q6 490 25 of of IN cord-014712-5u4e00q6 490 26 PID PID NNP cord-014712-5u4e00q6 490 27 . . . cord-014712-5u4e00q6 491 1 Early early JJ cord-014712-5u4e00q6 491 2 diagnosis diagnosis NN cord-014712-5u4e00q6 491 3 of of IN cord-014712-5u4e00q6 491 4 the the DT cord-014712-5u4e00q6 491 5 disease disease NN cord-014712-5u4e00q6 491 6 is be VBZ cord-014712-5u4e00q6 491 7 followed follow VBN cord-014712-5u4e00q6 491 8 by by IN cord-014712-5u4e00q6 491 9 earlier early JJR cord-014712-5u4e00q6 491 10 implementation implementation NN cord-014712-5u4e00q6 491 11 of of IN cord-014712-5u4e00q6 491 12 appropriate appropriate JJ cord-014712-5u4e00q6 491 13 treatment treatment NN cord-014712-5u4e00q6 491 14 , , , cord-014712-5u4e00q6 491 15 including include VBG cord-014712-5u4e00q6 491 16 gammaglobulin gammaglobulin NNP cord-014712-5u4e00q6 491 17 replacement replacement NN cord-014712-5u4e00q6 491 18 therapy therapy NN cord-014712-5u4e00q6 491 19 together together RB cord-014712-5u4e00q6 491 20 with with IN cord-014712-5u4e00q6 491 21 improvement improvement NN cord-014712-5u4e00q6 491 22 of of IN cord-014712-5u4e00q6 491 23 quality quality NN cord-014712-5u4e00q6 491 24 of of IN cord-014712-5u4e00q6 491 25 life life NN cord-014712-5u4e00q6 491 26 . . . cord-014712-5u4e00q6 492 1 Mutations mutation NNS cord-014712-5u4e00q6 492 2 of of IN cord-014712-5u4e00q6 492 3 WAS be VBD cord-014712-5u4e00q6 492 4 were be VBD cord-014712-5u4e00q6 492 5 identified identify VBN cord-014712-5u4e00q6 492 6 in in IN cord-014712-5u4e00q6 492 7 38 38 CD cord-014712-5u4e00q6 492 8 WAS be VBD cord-014712-5u4e00q6 492 9 boys boy NNS cord-014712-5u4e00q6 492 10 and and CC cord-014712-5u4e00q6 492 11 in in IN cord-014712-5u4e00q6 492 12 10 10 CD cord-014712-5u4e00q6 492 13 heterozygote heterozygote NN cord-014712-5u4e00q6 492 14 mothers mother NNS cord-014712-5u4e00q6 492 15 . . . cord-014712-5u4e00q6 493 1 Frequently frequently RB cord-014712-5u4e00q6 493 2 genetic genetic JJ cord-014712-5u4e00q6 493 3 damages damage NNS cord-014712-5u4e00q6 493 4 occur occur VBP cord-014712-5u4e00q6 493 5 in in IN cord-014712-5u4e00q6 493 6 1,2,7,10 1,2,7,10 CD cord-014712-5u4e00q6 493 7 exones exones NNPS cord-014712-5u4e00q6 493 8 and and CC cord-014712-5u4e00q6 493 9 6,8 6,8 CD cord-014712-5u4e00q6 493 10 intrones introne NNS cord-014712-5u4e00q6 493 11 : : : cord-014712-5u4e00q6 493 12 deletions deletion NNS cord-014712-5u4e00q6 493 13 ( ( -LRB- cord-014712-5u4e00q6 493 14 11 11 CD cord-014712-5u4e00q6 493 15 ) ) -RRB- cord-014712-5u4e00q6 493 16 , , , cord-014712-5u4e00q6 493 17 splice splice NN cord-014712-5u4e00q6 493 18 - - HYPH cord-014712-5u4e00q6 493 19 site site NN cord-014712-5u4e00q6 493 20 mutation mutation NN cord-014712-5u4e00q6 493 21 ( ( -LRB- cord-014712-5u4e00q6 493 22 9 9 CD cord-014712-5u4e00q6 493 23 ) ) -RRB- cord-014712-5u4e00q6 493 24 , , , cord-014712-5u4e00q6 493 25 missens missens NNP cord-014712-5u4e00q6 493 26 ( ( -LRB- cord-014712-5u4e00q6 493 27 12 12 CD cord-014712-5u4e00q6 493 28 ) ) -RRB- cord-014712-5u4e00q6 493 29 , , , cord-014712-5u4e00q6 493 30 insertions insertion NNS cord-014712-5u4e00q6 493 31 ( ( -LRB- cord-014712-5u4e00q6 493 32 6 6 CD cord-014712-5u4e00q6 493 33 ) ) -RRB- cord-014712-5u4e00q6 493 34 . . . cord-014712-5u4e00q6 494 1 Deletions deletion NNS cord-014712-5u4e00q6 494 2 and and CC cord-014712-5u4e00q6 494 3 insertions insertion NNS cord-014712-5u4e00q6 494 4 lead lead VBP cord-014712-5u4e00q6 494 5 to to TO cord-014712-5u4e00q6 494 6 stop stop VB cord-014712-5u4e00q6 494 7 - - HYPH cord-014712-5u4e00q6 494 8 codon codon NN cord-014712-5u4e00q6 494 9 in in IN cord-014712-5u4e00q6 494 10 7 7 CD cord-014712-5u4e00q6 494 11 cases case NNS cord-014712-5u4e00q6 494 12 . . . cord-014712-5u4e00q6 495 1 31 31 CD cord-014712-5u4e00q6 496 1 NBS NBS NNP cord-014712-5u4e00q6 496 2 patients patient NNS cord-014712-5u4e00q6 496 3 were be VBD cord-014712-5u4e00q6 496 4 homozygous homozygous JJ cord-014712-5u4e00q6 496 5 for for IN cord-014712-5u4e00q6 496 6 657del5 657del5 CD cord-014712-5u4e00q6 496 7 mutation mutation NN cord-014712-5u4e00q6 496 8 and and CC cord-014712-5u4e00q6 496 9 oneheterozygote oneheterozygote NN cord-014712-5u4e00q6 496 10 for for IN cord-014712-5u4e00q6 496 11 657del5 657del5 CD cord-014712-5u4e00q6 496 12 had have VBD cord-014712-5u4e00q6 497 1 681delT 681delt CD cord-014712-5u4e00q6 498 1 X X NNP cord-014712-5u4e00q6 498 2 - - NN cord-014712-5u4e00q6 498 3 CGD CGD NNP cord-014712-5u4e00q6 498 4 : : : cord-014712-5u4e00q6 498 5 deletions deletion NNS cord-014712-5u4e00q6 498 6 ( ( -LRB- cord-014712-5u4e00q6 498 7 10 10 CD cord-014712-5u4e00q6 498 8 ) ) -RRB- cord-014712-5u4e00q6 498 9 and and CC cord-014712-5u4e00q6 498 10 nonsens nonsens NNP cord-014712-5u4e00q6 498 11 ( ( -LRB- cord-014712-5u4e00q6 498 12 6 6 CD cord-014712-5u4e00q6 498 13 ) ) -RRB- cord-014712-5u4e00q6 498 14 mutations mutation NNS cord-014712-5u4e00q6 498 15 in in IN cord-014712-5u4e00q6 498 16 different different JJ cord-014712-5u4e00q6 498 17 exons exon NNS cord-014712-5u4e00q6 498 18 of of IN cord-014712-5u4e00q6 498 19 CYBB CYBB NNP cord-014712-5u4e00q6 498 20 were be VBD cord-014712-5u4e00q6 498 21 observed observe VBN cord-014712-5u4e00q6 498 22 most most RBS cord-014712-5u4e00q6 498 23 often often RB cord-014712-5u4e00q6 498 24 . . . cord-014712-5u4e00q6 499 1 In in IN cord-014712-5u4e00q6 499 2 33 33 CD cord-014712-5u4e00q6 499 3 families family NNS cord-014712-5u4e00q6 499 4 was be VBD cord-014712-5u4e00q6 499 5 performed perform VBN cord-014712-5u4e00q6 499 6 prenatal prenatal JJ cord-014712-5u4e00q6 499 7 diagnosis diagnosis NN cord-014712-5u4e00q6 499 8 : : : cord-014712-5u4e00q6 500 1 X X NNS cord-014712-5u4e00q6 500 2 - - NNS cord-014712-5u4e00q6 500 3 SCID-4 scid-4 NN cord-014712-5u4e00q6 500 4 , , , cord-014712-5u4e00q6 500 5 HIGM1 higm1 NN cord-014712-5u4e00q6 500 6 - - HYPH cord-014712-5u4e00q6 500 7 4 4 CD cord-014712-5u4e00q6 500 8 , , , cord-014712-5u4e00q6 500 9 XLA-2 XLA-2 NNP cord-014712-5u4e00q6 500 10 , , , cord-014712-5u4e00q6 501 1 WAS-6 WAS-6 NNP cord-014712-5u4e00q6 501 2 , , , cord-014712-5u4e00q6 501 3 NBS-6 NBS-6 NNP cord-014712-5u4e00q6 501 4 , , , cord-014712-5u4e00q6 501 5 A A NNP cord-014712-5u4e00q6 501 6 - - HYPH cord-014712-5u4e00q6 501 7 T-4 t-4 NN cord-014712-5u4e00q6 501 8 , , , cord-014712-5u4e00q6 501 9 CGD-5 CGD-5 NNP cord-014712-5u4e00q6 501 10 , , , cord-014712-5u4e00q6 501 11 XLP-1 XLP-1 NNP cord-014712-5u4e00q6 501 12 , , , cord-014712-5u4e00q6 502 1 DNAlig4 DNAlig4 NNP cord-014712-5u4e00q6 502 2 - - HYPH cord-014712-5u4e00q6 502 3 1 1 CD cord-014712-5u4e00q6 502 4 . . . cord-014712-5u4e00q6 503 1 Healthy healthy JJ cord-014712-5u4e00q6 503 2 children child NNS cord-014712-5u4e00q6 503 3 -31 -31 CD cord-014712-5u4e00q6 503 4 . . . cord-014712-5u4e00q6 504 1 Recurrent recurrent JJ cord-014712-5u4e00q6 504 2 severe severe JJ cord-014712-5u4e00q6 504 3 complicated complicated JJ cord-014712-5u4e00q6 504 4 infections infection NNS cord-014712-5u4e00q6 504 5 developed develop VBN cord-014712-5u4e00q6 504 6 in in IN cord-014712-5u4e00q6 504 7 90 90 CD cord-014712-5u4e00q6 504 8 % % NN cord-014712-5u4e00q6 504 9 of of IN cord-014712-5u4e00q6 504 10 PID pid NN cord-014712-5u4e00q6 504 11 patients patient NNS cord-014712-5u4e00q6 504 12 . . . cord-014712-5u4e00q6 505 1 Antibody antibody NN cord-014712-5u4e00q6 505 2 deficiencies deficiency NNS cord-014712-5u4e00q6 505 3 : : : cord-014712-5u4e00q6 505 4 bacterial bacterial JJ cord-014712-5u4e00q6 505 5 infections infection NNS cord-014712-5u4e00q6 505 6 -100 -100 NN cord-014712-5u4e00q6 505 7 % % NN cord-014712-5u4e00q6 505 8 , , , cord-014712-5u4e00q6 505 9 enteroviral enteroviral JJ cord-014712-5u4e00q6 505 10 -17 -17 CD cord-014712-5u4e00q6 505 11 % % NN cord-014712-5u4e00q6 505 12 , , , cord-014712-5u4e00q6 505 13 tuberculosis tuberculosis NN cord-014712-5u4e00q6 505 14 2 2 CD cord-014712-5u4e00q6 505 15 cases case NNS cord-014712-5u4e00q6 505 16 , , , cord-014712-5u4e00q6 505 17 atypical atypical JJ cord-014712-5u4e00q6 505 18 mycobacteriosis mycobacteriosis NN cord-014712-5u4e00q6 505 19 -1 -1 NNP cord-014712-5u4e00q6 505 20 case case NN cord-014712-5u4e00q6 505 21 . . . cord-014712-5u4e00q6 506 1 Combined combined JJ cord-014712-5u4e00q6 506 2 PID pid NN cord-014712-5u4e00q6 506 3 : : : cord-014712-5u4e00q6 506 4 bacterial bacterial JJ cord-014712-5u4e00q6 506 5 infections infection NNS cord-014712-5u4e00q6 507 1 -100 -100 NNP cord-014712-5u4e00q6 508 1 % % NN cord-014712-5u4e00q6 508 2 , , , cord-014712-5u4e00q6 508 3 fungal fungal JJ cord-014712-5u4e00q6 508 4 -40 -40 NNS cord-014712-5u4e00q6 508 5 % % NN cord-014712-5u4e00q6 508 6 , , , cord-014712-5u4e00q6 508 7 viral viral JJ cord-014712-5u4e00q6 508 8 -37 -37 NN cord-014712-5u4e00q6 508 9 % % NN cord-014712-5u4e00q6 508 10 , , , cord-014712-5u4e00q6 508 11 opportunistic opportunistic JJ cord-014712-5u4e00q6 508 12 ( ( -LRB- cord-014712-5u4e00q6 508 13 Pneumocystis Pneumocystis NNP cord-014712-5u4e00q6 508 14 jiroveci jiroveci NNS cord-014712-5u4e00q6 508 15 ) ) -RRB- cord-014712-5u4e00q6 509 1 -48 -48 NNP cord-014712-5u4e00q6 509 2 % % NN cord-014712-5u4e00q6 509 3 , , , cord-014712-5u4e00q6 509 4 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 509 5 -70 -70 NN cord-014712-5u4e00q6 509 6 % % NN cord-014712-5u4e00q6 509 7 ( ( -LRB- cord-014712-5u4e00q6 509 8 24 24 CD cord-014712-5u4e00q6 509 9 -complication -complication CD cord-014712-5u4e00q6 509 10 of of IN cord-014712-5u4e00q6 509 11 BCG BCG NNP cord-014712-5u4e00q6 509 12 vaccination vaccination NN cord-014712-5u4e00q6 509 13 , , , cord-014712-5u4e00q6 509 14 5 5 CD cord-014712-5u4e00q6 509 15 -tuberculosis -tuberculosis CD cord-014712-5u4e00q6 509 16 or or CC cord-014712-5u4e00q6 509 17 atypical atypical JJ cord-014712-5u4e00q6 509 18 mycobacteriosis mycobacteriosis NN cord-014712-5u4e00q6 509 19 ) ) -RRB- cord-014712-5u4e00q6 509 20 . . . cord-014712-5u4e00q6 510 1 CGD CGD NNP cord-014712-5u4e00q6 510 2 : : : cord-014712-5u4e00q6 510 3 bacterial bacterial JJ cord-014712-5u4e00q6 510 4 -62 -62 NN cord-014712-5u4e00q6 510 5 % % NN cord-014712-5u4e00q6 510 6 ( ( -LRB- cord-014712-5u4e00q6 510 7 Staph.aureus staph.aureu NNS cord-014712-5u4e00q6 510 8 , , , cord-014712-5u4e00q6 510 9 E.coli E.coli NNS cord-014712-5u4e00q6 510 10 , , , cord-014712-5u4e00q6 510 11 B.cepatia B.cepatia NNP cord-014712-5u4e00q6 510 12 , , , cord-014712-5u4e00q6 510 13 Salmonella Salmonella NNP cord-014712-5u4e00q6 510 14 spp spp NNS cord-014712-5u4e00q6 510 15 . . . cord-014712-5u4e00q6 511 1 , , , cord-014712-5u4e00q6 511 2 Klebsiella Klebsiella NNP cord-014712-5u4e00q6 511 3 spp spp NNS cord-014712-5u4e00q6 511 4 . . . cord-014712-5u4e00q6 511 5 ) ) -RRB- cord-014712-5u4e00q6 511 6 , , , cord-014712-5u4e00q6 511 7 mycobacterial mycobacterial NNP cord-014712-5u4e00q6 511 8 -75 -75 CD cord-014712-5u4e00q6 511 9 % % NN cord-014712-5u4e00q6 511 10 ( ( -LRB- cord-014712-5u4e00q6 511 11 85 85 CD cord-014712-5u4e00q6 511 12 % % NN cord-014712-5u4e00q6 511 13 BCG BCG NNP cord-014712-5u4e00q6 511 14 origin origin NN cord-014712-5u4e00q6 511 15 , , , cord-014712-5u4e00q6 511 16 15 15 CD cord-014712-5u4e00q6 511 17 % % NN cord-014712-5u4e00q6 511 18 -tuberculosis -tuberculosis NN cord-014712-5u4e00q6 511 19 ) ) -RRB- cord-014712-5u4e00q6 511 20 , , , cord-014712-5u4e00q6 511 21 aspergilosis aspergilosis NN cord-014712-5u4e00q6 511 22 -30 -30 CD cord-014712-5u4e00q6 511 23 % % NN cord-014712-5u4e00q6 511 24 Immune immune JJ cord-014712-5u4e00q6 511 25 disregulation disregulation NN cord-014712-5u4e00q6 511 26 syndromes syndrome NNS cord-014712-5u4e00q6 511 27 ( ( -LRB- cord-014712-5u4e00q6 511 28 XLP1 XLP1 NNP cord-014712-5u4e00q6 511 29 [ [ -LRB- cord-014712-5u4e00q6 511 30 10 10 CD cord-014712-5u4e00q6 511 31 ] ] -RRB- cord-014712-5u4e00q6 511 32 and and CC cord-014712-5u4e00q6 511 33 ALPS ALPS NNP cord-014712-5u4e00q6 511 34 [ [ -LRB- cord-014712-5u4e00q6 511 35 41 41 CD cord-014712-5u4e00q6 511 36 ] ] -RRB- cord-014712-5u4e00q6 511 37 ) ) -RRB- cord-014712-5u4e00q6 511 38 : : : cord-014712-5u4e00q6 511 39 bacterial bacterial JJ cord-014712-5u4e00q6 511 40 infections infection NNS cord-014712-5u4e00q6 511 41 -20 -20 NFP cord-014712-5u4e00q6 511 42 % % NN cord-014712-5u4e00q6 511 43 , , , cord-014712-5u4e00q6 511 44 viral viral JJ cord-014712-5u4e00q6 511 45 -8 -8 JJS cord-014712-5u4e00q6 511 46 % % NN cord-014712-5u4e00q6 511 47 ( ( -LRB- cord-014712-5u4e00q6 511 48 EBV EBV NNP cord-014712-5u4e00q6 511 49 ) ) -RRB- cord-014712-5u4e00q6 511 50 . . . cord-014712-5u4e00q6 512 1 Autoimmune autoimmune JJ cord-014712-5u4e00q6 512 2 violations violation NNS cord-014712-5u4e00q6 512 3 were be VBD cord-014712-5u4e00q6 512 4 observed observe VBN cord-014712-5u4e00q6 512 5 in in IN cord-014712-5u4e00q6 512 6 56 56 CD cord-014712-5u4e00q6 512 7 % % NN cord-014712-5u4e00q6 512 8 of of IN cord-014712-5u4e00q6 512 9 all all DT cord-014712-5u4e00q6 512 10 PID PID NNP cord-014712-5u4e00q6 512 11 cases case NNS cord-014712-5u4e00q6 512 12 : : : cord-014712-5u4e00q6 512 13 5 5 CD cord-014712-5u4e00q6 512 14 % % NN cord-014712-5u4e00q6 512 15 of of IN cord-014712-5u4e00q6 512 16 combined combined JJ cord-014712-5u4e00q6 512 17 PID pid NN cord-014712-5u4e00q6 512 18 , , , cord-014712-5u4e00q6 512 19 35 35 CD cord-014712-5u4e00q6 512 20 % % NN cord-014712-5u4e00q6 512 21 of of IN cord-014712-5u4e00q6 512 22 antibody antibody NN cord-014712-5u4e00q6 512 23 deficiencies deficiency NNS cord-014712-5u4e00q6 512 24 , , , cord-014712-5u4e00q6 512 25 65 65 CD cord-014712-5u4e00q6 512 26 % % NN cord-014712-5u4e00q6 512 27 of of IN cord-014712-5u4e00q6 512 28 other other JJ cord-014712-5u4e00q6 512 29 well well RB cord-014712-5u4e00q6 512 30 defined define VBN cord-014712-5u4e00q6 512 31 syndromes syndrome NNS cord-014712-5u4e00q6 512 32 , , , cord-014712-5u4e00q6 512 33 100 100 CD cord-014712-5u4e00q6 512 34 % % NN cord-014712-5u4e00q6 512 35 of of IN cord-014712-5u4e00q6 512 36 autoimmune autoimmune JJ cord-014712-5u4e00q6 512 37 syndromes syndrome NNS cord-014712-5u4e00q6 512 38 . . . cord-014712-5u4e00q6 513 1 Cytopenias Cytopenias NNP cord-014712-5u4e00q6 513 2 developed develop VBD cord-014712-5u4e00q6 513 3 in in IN cord-014712-5u4e00q6 513 4 68 68 CD cord-014712-5u4e00q6 513 5 % % NN cord-014712-5u4e00q6 513 6 , , , cord-014712-5u4e00q6 513 7 vasculitisin vasculitisin NNP cord-014712-5u4e00q6 513 8 15 15 CD cord-014712-5u4e00q6 513 9 % % NN cord-014712-5u4e00q6 513 10 , , , cord-014712-5u4e00q6 513 11 ulcer ulcer NN cord-014712-5u4e00q6 513 12 colitisin colitisin NNP cord-014712-5u4e00q6 513 13 14 14 CD cord-014712-5u4e00q6 513 14 % % NN cord-014712-5u4e00q6 513 15 , , , cord-014712-5u4e00q6 513 16 arthritisin arthritisin VBD cord-014712-5u4e00q6 513 17 11 11 CD cord-014712-5u4e00q6 513 18 % % NN cord-014712-5u4e00q6 513 19 . . . cord-014712-5u4e00q6 514 1 Oncology oncology NN cord-014712-5u4e00q6 514 2 diseases disease NNS cord-014712-5u4e00q6 514 3 developed develop VBN cord-014712-5u4e00q6 514 4 in in IN cord-014712-5u4e00q6 514 5 4 4 CD cord-014712-5u4e00q6 514 6 % % NN cord-014712-5u4e00q6 514 7 of of IN cord-014712-5u4e00q6 514 8 patients patient NNS cord-014712-5u4e00q6 514 9 : : : cord-014712-5u4e00q6 514 10 mainly mainly RB cord-014712-5u4e00q6 514 11 in in IN cord-014712-5u4e00q6 514 12 NBS NBS NNP cord-014712-5u4e00q6 514 13 , , , cord-014712-5u4e00q6 514 14 A A NNP cord-014712-5u4e00q6 514 15 - - HYPH cord-014712-5u4e00q6 514 16 T T NNP cord-014712-5u4e00q6 514 17 , , , cord-014712-5u4e00q6 514 18 WAS be VBD cord-014712-5u4e00q6 514 19 and and CC cord-014712-5u4e00q6 514 20 CVID CVID NNP cord-014712-5u4e00q6 514 21 : : : cord-014712-5u4e00q6 515 1 T T NNP cord-014712-5u4e00q6 515 2 - - HYPH cord-014712-5u4e00q6 515 3 and and CC cord-014712-5u4e00q6 515 4 B b NN cord-014712-5u4e00q6 515 5 - - HYPH cord-014712-5u4e00q6 515 6 leukemia leukemia NN cord-014712-5u4e00q6 515 7 's 's POS cord-014712-5u4e00q6 515 8 , , , cord-014712-5u4e00q6 515 9 lymphomas lymphoma NNS cord-014712-5u4e00q6 515 10 , , , cord-014712-5u4e00q6 515 11 solid solid JJ cord-014712-5u4e00q6 515 12 cancer cancer NN cord-014712-5u4e00q6 515 13 . . . cord-014712-5u4e00q6 516 1 The the DT cord-014712-5u4e00q6 516 2 study study NN cord-014712-5u4e00q6 516 3 of of IN cord-014712-5u4e00q6 516 4 primary primary JJ cord-014712-5u4e00q6 516 5 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 516 6 is be VBZ cord-014712-5u4e00q6 516 7 a a DT cord-014712-5u4e00q6 516 8 unique unique JJ cord-014712-5u4e00q6 516 9 model model NN cord-014712-5u4e00q6 516 10 for for IN cord-014712-5u4e00q6 516 11 studying study VBG cord-014712-5u4e00q6 516 12 the the DT cord-014712-5u4e00q6 516 13 molecular molecular JJ cord-014712-5u4e00q6 516 14 basis basis NN cord-014712-5u4e00q6 516 15 of of IN cord-014712-5u4e00q6 516 16 immunity immunity NN cord-014712-5u4e00q6 516 17 . . . cord-014712-5u4e00q6 517 1 Question question NN cord-014712-5u4e00q6 517 2 about about IN cord-014712-5u4e00q6 517 3 intravital intravital JJ cord-014712-5u4e00q6 517 4 PID PID NNP cord-014712-5u4e00q6 517 5 verification verification NN cord-014712-5u4e00q6 517 6 is be VBZ cord-014712-5u4e00q6 517 7 still still RB cord-014712-5u4e00q6 517 8 relevant relevant JJ cord-014712-5u4e00q6 517 9 . . . cord-014712-5u4e00q6 518 1 A a DT cord-014712-5u4e00q6 518 2 regional regional JJ cord-014712-5u4e00q6 518 3 center center NN cord-014712-5u4e00q6 518 4 of of IN cord-014712-5u4e00q6 518 5 clinical clinical JJ cord-014712-5u4e00q6 518 6 immunology immunology NN cord-014712-5u4e00q6 518 7 was be VBD cord-014712-5u4e00q6 518 8 established establish VBN cord-014712-5u4e00q6 518 9 in in IN cord-014712-5u4e00q6 518 10 1986 1986 CD cord-014712-5u4e00q6 518 11 at at IN cord-014712-5u4e00q6 518 12 the the DT cord-014712-5u4e00q6 518 13 Regional Regional NNP cord-014712-5u4e00q6 518 14 Children Children NNPS cord-014712-5u4e00q6 518 15 's 's POS cord-014712-5u4e00q6 518 16 Clinical Clinical NNP cord-014712-5u4e00q6 518 17 Hospital Hospital NNP cord-014712-5u4e00q6 518 18 № № NNP cord-014712-5u4e00q6 518 19 1 1 CD cord-014712-5u4e00q6 518 20 , , , cord-014712-5u4e00q6 518 21 Yekaterinburg Yekaterinburg NNP cord-014712-5u4e00q6 518 22 . . . cord-014712-5u4e00q6 519 1 The the DT cord-014712-5u4e00q6 519 2 Regional Regional NNP cord-014712-5u4e00q6 519 3 Clinical Clinical NNP cord-014712-5u4e00q6 519 4 Hospital Hospital NNP cord-014712-5u4e00q6 519 5 № № NNP cord-014712-5u4e00q6 519 6 1 1 CD cord-014712-5u4e00q6 519 7 joined join VBD cord-014712-5u4e00q6 519 8 the the DT cord-014712-5u4e00q6 519 9 center center NN cord-014712-5u4e00q6 519 10 in in IN cord-014712-5u4e00q6 519 11 2013 2013 CD cord-014712-5u4e00q6 519 12 . . . cord-014712-5u4e00q6 520 1 Institute Institute NNP cord-014712-5u4e00q6 520 2 of of IN cord-014712-5u4e00q6 520 3 Immunology Immunology NNP cord-014712-5u4e00q6 520 4 and and CC cord-014712-5u4e00q6 520 5 Physiology Physiology NNP cord-014712-5u4e00q6 520 6 , , , cord-014712-5u4e00q6 520 7 Ural Ural NNP cord-014712-5u4e00q6 520 8 Branch Branch NNP cord-014712-5u4e00q6 520 9 of of IN cord-014712-5u4e00q6 520 10 the the DT cord-014712-5u4e00q6 520 11 Russian Russian NNP cord-014712-5u4e00q6 520 12 Academy Academy NNP cord-014712-5u4e00q6 520 13 of of IN cord-014712-5u4e00q6 520 14 Sciences Sciences NNPS cord-014712-5u4e00q6 520 15 carries carry VBZ cord-014712-5u4e00q6 520 16 scientific scientific JJ cord-014712-5u4e00q6 520 17 management management NN cord-014712-5u4e00q6 520 18 of of IN cord-014712-5u4e00q6 520 19 the the DT cord-014712-5u4e00q6 520 20 center center NN cord-014712-5u4e00q6 520 21 . . . cord-014712-5u4e00q6 521 1 The the DT cord-014712-5u4e00q6 521 2 Centre Centre NNP cord-014712-5u4e00q6 521 3 works work VBZ cord-014712-5u4e00q6 521 4 closely closely RB cord-014712-5u4e00q6 521 5 with with IN cord-014712-5u4e00q6 521 6 foreign foreign JJ cord-014712-5u4e00q6 521 7 counterparts counterpart NNS cord-014712-5u4e00q6 521 8 in in IN cord-014712-5u4e00q6 521 9 the the DT cord-014712-5u4e00q6 521 10 international international JJ cord-014712-5u4e00q6 521 11 project project NN cord-014712-5u4e00q6 521 12 J J NNP cord-014712-5u4e00q6 521 13 Project Project NNP cord-014712-5u4e00q6 521 14 and and CC cord-014712-5u4e00q6 521 15 it -PRON- PRP cord-014712-5u4e00q6 521 16 has have VBZ cord-014712-5u4e00q6 521 17 been be VBN cord-014712-5u4e00q6 521 18 one one CD cord-014712-5u4e00q6 521 19 of of IN cord-014712-5u4e00q6 521 20 the the DT cord-014712-5u4e00q6 521 21 centers center NNS cord-014712-5u4e00q6 521 22 of of IN cord-014712-5u4e00q6 521 23 JMF JMF NNP cord-014712-5u4e00q6 521 24 since since IN cord-014712-5u4e00q6 521 25 2013 2013 CD cord-014712-5u4e00q6 521 26 . . . cord-014712-5u4e00q6 522 1 Over over IN cord-014712-5u4e00q6 522 2 28 28 CD cord-014712-5u4e00q6 522 3 years year NNS cord-014712-5u4e00q6 522 4 we -PRON- PRP cord-014712-5u4e00q6 522 5 formed form VBD cord-014712-5u4e00q6 522 6 a a DT cord-014712-5u4e00q6 522 7 regional regional JJ cord-014712-5u4e00q6 522 8 register register NN cord-014712-5u4e00q6 522 9 of of IN cord-014712-5u4e00q6 522 10 patients patient NNS cord-014712-5u4e00q6 522 11 with with IN cord-014712-5u4e00q6 522 12 Primary Primary NNP cord-014712-5u4e00q6 522 13 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 522 14 , , , cord-014712-5u4e00q6 522 15 comprising comprise VBG cord-014712-5u4e00q6 522 16 309 309 CD cord-014712-5u4e00q6 522 17 patients patient NNS cord-014712-5u4e00q6 522 18 : : : cord-014712-5u4e00q6 522 19 224 224 CD cord-014712-5u4e00q6 522 20 children child NNS cord-014712-5u4e00q6 522 21 and and CC cord-014712-5u4e00q6 522 22 85 85 CD cord-014712-5u4e00q6 522 23 adults adult NNS cord-014712-5u4e00q6 522 24 . . . cord-014712-5u4e00q6 523 1 Analysis analysis NN cord-014712-5u4e00q6 523 2 of of IN cord-014712-5u4e00q6 523 3 the the DT cord-014712-5u4e00q6 523 4 regional regional JJ cord-014712-5u4e00q6 523 5 register register NN cord-014712-5u4e00q6 523 6 allows allow VBZ cord-014712-5u4e00q6 523 7 to to TO cord-014712-5u4e00q6 523 8 investigate investigate VB cord-014712-5u4e00q6 523 9 the the DT cord-014712-5u4e00q6 523 10 causes cause NNS cord-014712-5u4e00q6 523 11 of of IN cord-014712-5u4e00q6 523 12 deaths death NNS cord-014712-5u4e00q6 523 13 in in IN cord-014712-5u4e00q6 523 14 patients patient NNS cord-014712-5u4e00q6 523 15 with with IN cord-014712-5u4e00q6 523 16 PID PID NNP cord-014712-5u4e00q6 523 17 . . . cord-014712-5u4e00q6 524 1 Infectious infectious JJ cord-014712-5u4e00q6 524 2 syndrome syndrome NN cord-014712-5u4e00q6 524 3 mortality mortality NN cord-014712-5u4e00q6 524 4 -sepsis -sepsis NN cord-014712-5u4e00q6 524 5 , , , cord-014712-5u4e00q6 524 6 generalized generalized JJ cord-014712-5u4e00q6 524 7 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 524 8 infection infection NN cord-014712-5u4e00q6 525 1 -22 -22 IN cord-014712-5u4e00q6 525 2 patients patient NNS cord-014712-5u4e00q6 525 3 , , , cord-014712-5u4e00q6 525 4 proliferative proliferative JJ cord-014712-5u4e00q6 525 5 process process NN cord-014712-5u4e00q6 525 6 -4 -4 CD cord-014712-5u4e00q6 525 7 patients patient NNS cord-014712-5u4e00q6 525 8 , , , cord-014712-5u4e00q6 525 9 dominate dominate VB cord-014712-5u4e00q6 525 10 the the DT cord-014712-5u4e00q6 525 11 mortality mortality NN cord-014712-5u4e00q6 525 12 structure structure NN cord-014712-5u4e00q6 525 13 . . . cord-014712-5u4e00q6 526 1 Creation creation NN cord-014712-5u4e00q6 526 2 of of IN cord-014712-5u4e00q6 526 3 specialized specialized JJ cord-014712-5u4e00q6 526 4 immunological immunological JJ cord-014712-5u4e00q6 526 5 centers center NNS cord-014712-5u4e00q6 526 6 permit permit VBP cord-014712-5u4e00q6 526 7 to to TO cord-014712-5u4e00q6 526 8 raise raise VB cord-014712-5u4e00q6 526 9 the the DT cord-014712-5u4e00q6 526 10 educational educational JJ cord-014712-5u4e00q6 526 11 level level NN cord-014712-5u4e00q6 526 12 of of IN cord-014712-5u4e00q6 526 13 the the DT cord-014712-5u4e00q6 526 14 medical medical JJ cord-014712-5u4e00q6 526 15 staff staff NN cord-014712-5u4e00q6 526 16 , , , cord-014712-5u4e00q6 526 17 precisely precisely RB cord-014712-5u4e00q6 526 18 identify identify VB cord-014712-5u4e00q6 526 19 nosological nosological JJ cord-014712-5u4e00q6 526 20 forms form NNS cord-014712-5u4e00q6 526 21 of of IN cord-014712-5u4e00q6 526 22 PID PID NNP cord-014712-5u4e00q6 526 23 among among IN cord-014712-5u4e00q6 526 24 different different JJ cord-014712-5u4e00q6 526 25 groups group NNS cord-014712-5u4e00q6 526 26 of of IN cord-014712-5u4e00q6 526 27 patients patient NNS cord-014712-5u4e00q6 526 28 , , , cord-014712-5u4e00q6 526 29 to to TO cord-014712-5u4e00q6 526 30 prevent prevent VB cord-014712-5u4e00q6 526 31 the the DT cord-014712-5u4e00q6 526 32 birth birth NN cord-014712-5u4e00q6 526 33 of of IN cord-014712-5u4e00q6 526 34 children child NNS cord-014712-5u4e00q6 526 35 with with IN cord-014712-5u4e00q6 526 36 PID PID NNP cord-014712-5u4e00q6 526 37 , , , cord-014712-5u4e00q6 526 38 increase increase VB cord-014712-5u4e00q6 526 39 the the DT cord-014712-5u4e00q6 526 40 length length NN cord-014712-5u4e00q6 526 41 and and CC cord-014712-5u4e00q6 526 42 quality quality NN cord-014712-5u4e00q6 526 43 of of IN cord-014712-5u4e00q6 526 44 life life NN cord-014712-5u4e00q6 526 45 such such JJ cord-014712-5u4e00q6 526 46 patients patient NNS cord-014712-5u4e00q6 526 47 and and CC cord-014712-5u4e00q6 526 48 take take VB cord-014712-5u4e00q6 526 49 part part NN cord-014712-5u4e00q6 526 50 in in IN cord-014712-5u4e00q6 526 51 the the DT cord-014712-5u4e00q6 526 52 collaboration collaboration NN cord-014712-5u4e00q6 526 53 with with IN cord-014712-5u4e00q6 526 54 international international JJ cord-014712-5u4e00q6 526 55 experience experience NN cord-014712-5u4e00q6 526 56 in in IN cord-014712-5u4e00q6 526 57 the the DT cord-014712-5u4e00q6 526 58 PID PID NNP cord-014712-5u4e00q6 526 59 . . . cord-014712-5u4e00q6 527 1 Introduction introduction NN cord-014712-5u4e00q6 527 2 : : : cord-014712-5u4e00q6 528 1 The the DT cord-014712-5u4e00q6 528 2 aim aim NN cord-014712-5u4e00q6 528 3 of of IN cord-014712-5u4e00q6 528 4 this this DT cord-014712-5u4e00q6 528 5 retrospective retrospective JJ cord-014712-5u4e00q6 528 6 study study NN cord-014712-5u4e00q6 528 7 is be VBZ cord-014712-5u4e00q6 528 8 to to TO cord-014712-5u4e00q6 528 9 determine determine VB cord-014712-5u4e00q6 528 10 the the DT cord-014712-5u4e00q6 528 11 frequency frequency NN cord-014712-5u4e00q6 528 12 , , , cord-014712-5u4e00q6 528 13 and and CC cord-014712-5u4e00q6 528 14 demographic demographic JJ cord-014712-5u4e00q6 528 15 , , , cord-014712-5u4e00q6 528 16 clinical clinical JJ cord-014712-5u4e00q6 528 17 and and CC cord-014712-5u4e00q6 528 18 laboratory laboratory NN cord-014712-5u4e00q6 528 19 features feature NNS cord-014712-5u4e00q6 528 20 of of IN cord-014712-5u4e00q6 528 21 adult adult NN cord-014712-5u4e00q6 528 22 CVID CVID NNP cord-014712-5u4e00q6 528 23 patients patient NNS cord-014712-5u4e00q6 528 24 referred refer VBD cord-014712-5u4e00q6 528 25 to to IN cord-014712-5u4e00q6 528 26 our -PRON- PRP$ cord-014712-5u4e00q6 528 27 clinic clinic NN cord-014712-5u4e00q6 528 28 . . . cord-014712-5u4e00q6 529 1 Materials material NNS cord-014712-5u4e00q6 529 2 and and CC cord-014712-5u4e00q6 529 3 Methods method NNS cord-014712-5u4e00q6 529 4 : : : cord-014712-5u4e00q6 529 5 We -PRON- PRP cord-014712-5u4e00q6 529 6 retrospectively retrospectively RB cord-014712-5u4e00q6 529 7 evaluated evaluate VBD cord-014712-5u4e00q6 529 8 26 26 CD cord-014712-5u4e00q6 529 9 adult adult NN cord-014712-5u4e00q6 529 10 patients patient NNS cord-014712-5u4e00q6 529 11 ( ( -LRB- cord-014712-5u4e00q6 529 12 9 9 CD cord-014712-5u4e00q6 529 13 female female JJ cord-014712-5u4e00q6 529 14 ( ( -LRB- cord-014712-5u4e00q6 529 15 % % NN cord-014712-5u4e00q6 529 16 34,6 34,6 CD cord-014712-5u4e00q6 529 17 ) ) -RRB- cord-014712-5u4e00q6 529 18 , , , cord-014712-5u4e00q6 529 19 17 17 CD cord-014712-5u4e00q6 529 20 male male NN cord-014712-5u4e00q6 529 21 ( ( -LRB- cord-014712-5u4e00q6 529 22 % % NN cord-014712-5u4e00q6 529 23 65,4 65,4 CD cord-014712-5u4e00q6 529 24 ) ) -RRB- cord-014712-5u4e00q6 529 25 ; ; : cord-014712-5u4e00q6 529 26 aged age VBN cord-014712-5u4e00q6 529 27 18 18 CD cord-014712-5u4e00q6 529 28 to to TO cord-014712-5u4e00q6 529 29 67 67 CD cord-014712-5u4e00q6 529 30 years year NNS cord-014712-5u4e00q6 529 31 : : : cord-014712-5u4e00q6 529 32 median median NN cord-014712-5u4e00q6 529 33 27 27 CD cord-014712-5u4e00q6 529 34 years year NNS cord-014712-5u4e00q6 529 35 ) ) -RRB- cord-014712-5u4e00q6 529 36 who who WP cord-014712-5u4e00q6 529 37 were be VBD cord-014712-5u4e00q6 529 38 diagnosed diagnose VBN cord-014712-5u4e00q6 529 39 as as IN cord-014712-5u4e00q6 529 40 CVID CVID NNP cord-014712-5u4e00q6 529 41 according accord VBG cord-014712-5u4e00q6 529 42 to to IN cord-014712-5u4e00q6 529 43 ESID ESID NNP cord-014712-5u4e00q6 529 44 and and CC cord-014712-5u4e00q6 529 45 PAGID PAGID NNP cord-014712-5u4e00q6 529 46 criteria criterion NNS cord-014712-5u4e00q6 529 47 during during IN cord-014712-5u4e00q6 529 48 a a DT cord-014712-5u4e00q6 529 49 4 4 CD cord-014712-5u4e00q6 529 50 year year NN cord-014712-5u4e00q6 529 51 period period NN cord-014712-5u4e00q6 529 52 ( ( -LRB- cord-014712-5u4e00q6 529 53 January January NNP cord-014712-5u4e00q6 529 54 2010-March 2010-march CD cord-014712-5u4e00q6 529 55 2014 2014 CD cord-014712-5u4e00q6 529 56 ) ) -RRB- cord-014712-5u4e00q6 529 57 . . . cord-014712-5u4e00q6 530 1 Results result NNS cord-014712-5u4e00q6 530 2 : : : cord-014712-5u4e00q6 531 1 The the DT cord-014712-5u4e00q6 531 2 median median JJ cord-014712-5u4e00q6 531 3 current current JJ cord-014712-5u4e00q6 531 4 age age NN cord-014712-5u4e00q6 531 5 of of IN cord-014712-5u4e00q6 531 6 26 26 CD cord-014712-5u4e00q6 531 7 patients patient NNS cord-014712-5u4e00q6 531 8 was be VBD cord-014712-5u4e00q6 531 9 27 27 CD cord-014712-5u4e00q6 531 10 , , , cord-014712-5u4e00q6 531 11 and and CC cord-014712-5u4e00q6 531 12 the the DT cord-014712-5u4e00q6 531 13 median median JJ cord-014712-5u4e00q6 531 14 CVID CVID NNP cord-014712-5u4e00q6 531 15 diagnosis diagnosis NN cord-014712-5u4e00q6 531 16 age age NN cord-014712-5u4e00q6 531 17 was be VBD cord-014712-5u4e00q6 531 18 22,5 22,5 CD cord-014712-5u4e00q6 531 19 years year NNS cord-014712-5u4e00q6 531 20 . . . cord-014712-5u4e00q6 532 1 The the DT cord-014712-5u4e00q6 532 2 diagnostic diagnostic JJ cord-014712-5u4e00q6 532 3 delay delay NN cord-014712-5u4e00q6 532 4 in in IN cord-014712-5u4e00q6 532 5 patients patient NNS cord-014712-5u4e00q6 532 6 with with IN cord-014712-5u4e00q6 532 7 CVID CVID NNP cord-014712-5u4e00q6 532 8 was be VBD cord-014712-5u4e00q6 532 9 4,5 4,5 CD cord-014712-5u4e00q6 532 10 years year NNS cord-014712-5u4e00q6 532 11 ( ( -LRB- cord-014712-5u4e00q6 532 12 median median NN cord-014712-5u4e00q6 532 13 ) ) -RRB- cord-014712-5u4e00q6 532 14 . . . cord-014712-5u4e00q6 533 1 CVID CVID NNP cord-014712-5u4e00q6 533 2 patients patient NNS cord-014712-5u4e00q6 533 3 presented present VBD cord-014712-5u4e00q6 533 4 lower low JJR cord-014712-5u4e00q6 533 5 levels level NNS cord-014712-5u4e00q6 533 6 of of IN cord-014712-5u4e00q6 533 7 IgM IgM NNP cord-014712-5u4e00q6 533 8 ( ( -LRB- cord-014712-5u4e00q6 533 9 12 12 CD cord-014712-5u4e00q6 533 10 patients patient NNS cord-014712-5u4e00q6 533 11 , , , cord-014712-5u4e00q6 533 12 46,1 46,1 CD cord-014712-5u4e00q6 533 13 % % NN cord-014712-5u4e00q6 533 14 ) ) -RRB- cord-014712-5u4e00q6 533 15 , , , cord-014712-5u4e00q6 533 16 IgA IgA NNP cord-014712-5u4e00q6 533 17 ( ( -LRB- cord-014712-5u4e00q6 533 18 16 16 CD cord-014712-5u4e00q6 533 19 patients patient NNS cord-014712-5u4e00q6 533 20 , , , cord-014712-5u4e00q6 533 21 61,5 61,5 CD cord-014712-5u4e00q6 533 22 % % NN cord-014712-5u4e00q6 533 23 ) ) -RRB- cord-014712-5u4e00q6 533 24 and and CC cord-014712-5u4e00q6 533 25 IgG IgG NNP cord-014712-5u4e00q6 533 26 ( ( -LRB- cord-014712-5u4e00q6 533 27 16 16 CD cord-014712-5u4e00q6 533 28 patients patient NNS cord-014712-5u4e00q6 533 29 , , , cord-014712-5u4e00q6 533 30 61,5 61,5 CD cord-014712-5u4e00q6 533 31 % % NN cord-014712-5u4e00q6 533 32 ) ) -RRB- cord-014712-5u4e00q6 533 33 . . . cord-014712-5u4e00q6 534 1 According accord VBG cord-014712-5u4e00q6 534 2 to to IN cord-014712-5u4e00q6 534 3 lymphocyte lymphocyte NN cord-014712-5u4e00q6 534 4 lmunophenotypes lmunophenotype NNS cord-014712-5u4e00q6 534 5 of of IN cord-014712-5u4e00q6 534 6 CVID CVID NNP cord-014712-5u4e00q6 534 7 patients patient NNS cord-014712-5u4e00q6 534 8 , , , cord-014712-5u4e00q6 534 9 CD4 CD4 NNP cord-014712-5u4e00q6 534 10 ( ( -LRB- cord-014712-5u4e00q6 534 11 15 15 CD cord-014712-5u4e00q6 534 12 patients patient NNS cord-014712-5u4e00q6 534 13 , , , cord-014712-5u4e00q6 534 14 57,6 57,6 CD cord-014712-5u4e00q6 534 15 % % NN cord-014712-5u4e00q6 534 16 ) ) -RRB- cord-014712-5u4e00q6 534 17 , , , cord-014712-5u4e00q6 534 18 CD19 CD19 NNP cord-014712-5u4e00q6 534 19 ( ( -LRB- cord-014712-5u4e00q6 534 20 13 13 CD cord-014712-5u4e00q6 534 21 patients patient NNS cord-014712-5u4e00q6 534 22 , , , cord-014712-5u4e00q6 534 23 50 50 CD cord-014712-5u4e00q6 534 24 % % NN cord-014712-5u4e00q6 534 25 ) ) -RRB- cord-014712-5u4e00q6 534 26 and and CC cord-014712-5u4e00q6 534 27 CD4 CD4 NNP cord-014712-5u4e00q6 534 28 / / SYM cord-014712-5u4e00q6 534 29 CD8 CD8 NNP cord-014712-5u4e00q6 534 30 ( ( -LRB- cord-014712-5u4e00q6 534 31 13 13 CD cord-014712-5u4e00q6 534 32 patients patient NNS cord-014712-5u4e00q6 534 33 , , , cord-014712-5u4e00q6 534 34 50 50 CD cord-014712-5u4e00q6 534 35 % % NN cord-014712-5u4e00q6 534 36 ) ) -RRB- cord-014712-5u4e00q6 534 37 values value NNS cord-014712-5u4e00q6 534 38 were be VBD cord-014712-5u4e00q6 534 39 observed observe VBN cord-014712-5u4e00q6 534 40 the the DT cord-014712-5u4e00q6 534 41 most most RBS cord-014712-5u4e00q6 534 42 lower low JJR cord-014712-5u4e00q6 534 43 ones one NNS cord-014712-5u4e00q6 534 44 . . . cord-014712-5u4e00q6 535 1 Discussion discussion NN cord-014712-5u4e00q6 535 2 : : : cord-014712-5u4e00q6 536 1 We -PRON- PRP cord-014712-5u4e00q6 536 2 found find VBD cord-014712-5u4e00q6 536 3 that that IN cord-014712-5u4e00q6 536 4 both both DT cord-014712-5u4e00q6 536 5 of of IN cord-014712-5u4e00q6 536 6 the the DT cord-014712-5u4e00q6 536 7 patients patient NNS cord-014712-5u4e00q6 536 8 with with IN cord-014712-5u4e00q6 536 9 bronchiectasis bronchiectasis NN cord-014712-5u4e00q6 536 10 showed show VBD cord-014712-5u4e00q6 536 11 lower low JJR cord-014712-5u4e00q6 536 12 levels level NNS cord-014712-5u4e00q6 536 13 of of IN cord-014712-5u4e00q6 536 14 immünoglobulins immünoglobulin NNS cord-014712-5u4e00q6 536 15 and and CC cord-014712-5u4e00q6 536 16 lower low JJR cord-014712-5u4e00q6 536 17 imunophenotypes imunophenotype NNS cord-014712-5u4e00q6 536 18 of of IN cord-014712-5u4e00q6 536 19 B B NNP cord-014712-5u4e00q6 536 20 cell cell NN cord-014712-5u4e00q6 536 21 than than IN cord-014712-5u4e00q6 536 22 the the DT cord-014712-5u4e00q6 536 23 others other NNS cord-014712-5u4e00q6 536 24 that that WDT cord-014712-5u4e00q6 536 25 do do VBP cord-014712-5u4e00q6 536 26 not not RB cord-014712-5u4e00q6 536 27 have have VB cord-014712-5u4e00q6 536 28 bronchiectasis bronchiectasis NN cord-014712-5u4e00q6 536 29 . . . cord-014712-5u4e00q6 537 1 In in IN cord-014712-5u4e00q6 537 2 our -PRON- PRP$ cord-014712-5u4e00q6 537 3 patients patient NNS cord-014712-5u4e00q6 537 4 CD4 CD4 NNP cord-014712-5u4e00q6 537 5 , , , cord-014712-5u4e00q6 537 6 CD19 CD19 NNP cord-014712-5u4e00q6 537 7 and and CC cord-014712-5u4e00q6 537 8 CD4 CD4 NNP cord-014712-5u4e00q6 537 9 / / SYM cord-014712-5u4e00q6 537 10 CD8 CD8 NNP cord-014712-5u4e00q6 537 11 values value NNS cord-014712-5u4e00q6 537 12 have have VBP cord-014712-5u4e00q6 537 13 got get VBN cord-014712-5u4e00q6 537 14 enough enough JJ cord-014712-5u4e00q6 537 15 priority priority NN cord-014712-5u4e00q6 537 16 to to TO cord-014712-5u4e00q6 537 17 be be VB cord-014712-5u4e00q6 537 18 mentioned mention VBN cord-014712-5u4e00q6 537 19 about about IN cord-014712-5u4e00q6 537 20 an an DT cord-014712-5u4e00q6 537 21 immun immun JJ cord-014712-5u4e00q6 537 22 deficiency deficiency NN cord-014712-5u4e00q6 537 23 . . . cord-014712-5u4e00q6 538 1 In in IN cord-014712-5u4e00q6 538 2 conclusion conclusion NN cord-014712-5u4e00q6 538 3 , , , cord-014712-5u4e00q6 538 4 despite despite IN cord-014712-5u4e00q6 538 5 recent recent JJ cord-014712-5u4e00q6 538 6 improvements improvement NNS cord-014712-5u4e00q6 538 7 in in IN cord-014712-5u4e00q6 538 8 diagnostic diagnostic JJ cord-014712-5u4e00q6 538 9 tools tool NNS cord-014712-5u4e00q6 538 10 , , , cord-014712-5u4e00q6 538 11 the the DT cord-014712-5u4e00q6 538 12 diagnosis diagnosis NN cord-014712-5u4e00q6 538 13 of of IN cord-014712-5u4e00q6 538 14 mild mild JJ cord-014712-5u4e00q6 538 15 or or CC cord-014712-5u4e00q6 538 16 moderate moderate JJ cord-014712-5u4e00q6 538 17 CVID CVID NNP cord-014712-5u4e00q6 538 18 is be VBZ cord-014712-5u4e00q6 538 19 often often RB cord-014712-5u4e00q6 538 20 delayed delay VBN cord-014712-5u4e00q6 538 21 . . . cord-014712-5u4e00q6 539 1 However however RB cord-014712-5u4e00q6 539 2 , , , cord-014712-5u4e00q6 539 3 it -PRON- PRP cord-014712-5u4e00q6 539 4 seems seem VBZ cord-014712-5u4e00q6 539 5 that that IN cord-014712-5u4e00q6 539 6 the the DT cord-014712-5u4e00q6 539 7 diagnosis diagnosis NN cord-014712-5u4e00q6 539 8 of of IN cord-014712-5u4e00q6 539 9 CVID CVID NNP cord-014712-5u4e00q6 539 10 is be VBZ cord-014712-5u4e00q6 539 11 delayed delay VBN cord-014712-5u4e00q6 539 12 especially especially RB cord-014712-5u4e00q6 539 13 in in IN cord-014712-5u4e00q6 539 14 adulthood adulthood NN cord-014712-5u4e00q6 539 15 on on IN cord-014712-5u4e00q6 539 16 account account NN cord-014712-5u4e00q6 539 17 of of IN cord-014712-5u4e00q6 539 18 the the DT cord-014712-5u4e00q6 539 19 fact fact NN cord-014712-5u4e00q6 539 20 that that IN cord-014712-5u4e00q6 539 21 the the DT cord-014712-5u4e00q6 539 22 lack lack NN cord-014712-5u4e00q6 539 23 of of IN cord-014712-5u4e00q6 539 24 awareness awareness NN cord-014712-5u4e00q6 539 25 of of IN cord-014712-5u4e00q6 539 26 these these DT cord-014712-5u4e00q6 539 27 illnesses illness NNS cord-014712-5u4e00q6 539 28 among among IN cord-014712-5u4e00q6 539 29 the the DT cord-014712-5u4e00q6 539 30 medical medical JJ cord-014712-5u4e00q6 539 31 professionals professional NNS cord-014712-5u4e00q6 539 32 all all RB cord-014712-5u4e00q6 539 33 over over IN cord-014712-5u4e00q6 539 34 the the DT cord-014712-5u4e00q6 539 35 world world NN cord-014712-5u4e00q6 539 36 . . . cord-014712-5u4e00q6 540 1 Primary primary JJ cord-014712-5u4e00q6 540 2 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 540 3 disease disease NN cord-014712-5u4e00q6 540 4 is be VBZ cord-014712-5u4e00q6 540 5 important important JJ cord-014712-5u4e00q6 540 6 in in IN cord-014712-5u4e00q6 540 7 Turkey Turkey NNP cord-014712-5u4e00q6 540 8 because because IN cord-014712-5u4e00q6 540 9 of of IN cord-014712-5u4e00q6 540 10 the the DT cord-014712-5u4e00q6 540 11 high high JJ cord-014712-5u4e00q6 540 12 rate rate NN cord-014712-5u4e00q6 540 13 of of IN cord-014712-5u4e00q6 540 14 consanguineous consanguineous JJ cord-014712-5u4e00q6 540 15 marriage marriage NN cord-014712-5u4e00q6 540 16 . . . cord-014712-5u4e00q6 541 1 The the DT cord-014712-5u4e00q6 541 2 lack lack NN cord-014712-5u4e00q6 541 3 of of IN cord-014712-5u4e00q6 541 4 awereness awereness NN cord-014712-5u4e00q6 541 5 about about IN cord-014712-5u4e00q6 541 6 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 541 7 can can MD cord-014712-5u4e00q6 541 8 cause cause VB cord-014712-5u4e00q6 541 9 late late JJ cord-014712-5u4e00q6 541 10 - - HYPH cord-014712-5u4e00q6 541 11 diagnosis diagnosis NN cord-014712-5u4e00q6 541 12 and and CC cord-014712-5u4e00q6 541 13 severe severe JJ cord-014712-5u4e00q6 541 14 complications complication NNS cord-014712-5u4e00q6 541 15 . . . cord-014712-5u4e00q6 542 1 The the DT cord-014712-5u4e00q6 542 2 objective objective NN cord-014712-5u4e00q6 542 3 of of IN cord-014712-5u4e00q6 542 4 this this DT cord-014712-5u4e00q6 542 5 study study NN cord-014712-5u4e00q6 542 6 was be VBD cord-014712-5u4e00q6 542 7 to to TO cord-014712-5u4e00q6 542 8 assess assess VB cord-014712-5u4e00q6 542 9 PID PID NNP cord-014712-5u4e00q6 542 10 awereness awereness NN cord-014712-5u4e00q6 542 11 before before RB cord-014712-5u4e00q6 542 12 and and CC cord-014712-5u4e00q6 542 13 after after IN cord-014712-5u4e00q6 542 14 clinical clinical JJ cord-014712-5u4e00q6 542 15 immunogy immunogy NN cord-014712-5u4e00q6 542 16 education education NN cord-014712-5u4e00q6 542 17 among among IN cord-014712-5u4e00q6 542 18 medical medical JJ cord-014712-5u4e00q6 542 19 students student NNS cord-014712-5u4e00q6 542 20 . . . cord-014712-5u4e00q6 543 1 One one CD cord-014712-5u4e00q6 543 2 hundred hundred CD cord-014712-5u4e00q6 543 3 and and CC cord-014712-5u4e00q6 543 4 thirty thirty CD cord-014712-5u4e00q6 543 5 - - HYPH cord-014712-5u4e00q6 543 6 two two CD cord-014712-5u4e00q6 543 7 questionnaires questionnaire NNS cord-014712-5u4e00q6 543 8 0 0 CD cord-014712-5u4e00q6 543 9 with with IN cord-014712-5u4e00q6 543 10 71 71 CD cord-014712-5u4e00q6 543 11 items item NNS cord-014712-5u4e00q6 543 12 ( ( -LRB- cord-014712-5u4e00q6 543 13 1 1 CD cord-014712-5u4e00q6 543 14 ) ) -RRB- cord-014712-5u4e00q6 543 15 were be VBD cord-014712-5u4e00q6 543 16 distributed distribute VBN cord-014712-5u4e00q6 543 17 to to IN cord-014712-5u4e00q6 543 18 seventh seventh JJ cord-014712-5u4e00q6 543 19 somestre somestre NNP cord-014712-5u4e00q6 543 20 medical medical JJ cord-014712-5u4e00q6 543 21 students student NNS cord-014712-5u4e00q6 543 22 and and CC cord-014712-5u4e00q6 543 23 116 116 CD cord-014712-5u4e00q6 543 24 ( ( -LRB- cord-014712-5u4e00q6 543 25 88 88 CD cord-014712-5u4e00q6 543 26 % % NN cord-014712-5u4e00q6 543 27 ) ) -RRB- cord-014712-5u4e00q6 543 28 completed complete VBN cord-014712-5u4e00q6 543 29 questionnaires questionnaire NNS cord-014712-5u4e00q6 543 30 were be VBD cord-014712-5u4e00q6 543 31 evaluated evaluate VBN cord-014712-5u4e00q6 543 32 before before IN cord-014712-5u4e00q6 543 33 ( ( -LRB- cord-014712-5u4e00q6 543 34 first first RB cord-014712-5u4e00q6 543 35 ) ) -RRB- cord-014712-5u4e00q6 543 36 and and CC cord-014712-5u4e00q6 543 37 after after IN cord-014712-5u4e00q6 543 38 ( ( -LRB- cord-014712-5u4e00q6 543 39 second second RB cord-014712-5u4e00q6 543 40 ) ) -RRB- cord-014712-5u4e00q6 543 41 their -PRON- PRP$ cord-014712-5u4e00q6 543 42 education education NN cord-014712-5u4e00q6 543 43 about about IN cord-014712-5u4e00q6 543 44 clinical clinical JJ cord-014712-5u4e00q6 543 45 immunology immunology NN cord-014712-5u4e00q6 543 46 courses course NNS cord-014712-5u4e00q6 543 47 for for IN cord-014712-5u4e00q6 543 48 6 6 CD cord-014712-5u4e00q6 543 49 hours hour NNS cord-014712-5u4e00q6 543 50 . . . cord-014712-5u4e00q6 544 1 Questionnaire questionnaire NN cord-014712-5u4e00q6 544 2 Scores score NNS cord-014712-5u4e00q6 544 3 ( ( -LRB- cord-014712-5u4e00q6 544 4 QS QS NNP cord-014712-5u4e00q6 544 5 ) ) -RRB- cord-014712-5u4e00q6 544 6 were be VBD cord-014712-5u4e00q6 544 7 detected detect VBN cord-014712-5u4e00q6 544 8 as as IN cord-014712-5u4e00q6 544 9 total total JJ cord-014712-5u4e00q6 544 10 correct correct JJ cord-014712-5u4e00q6 544 11 answers answer NNS cord-014712-5u4e00q6 544 12 . . . cord-014712-5u4e00q6 545 1 The the DT cord-014712-5u4e00q6 545 2 mean mean NN cord-014712-5u4e00q6 545 3 of of IN cord-014712-5u4e00q6 545 4 the the DT cord-014712-5u4e00q6 545 5 first first JJ cord-014712-5u4e00q6 545 6 QS QS NNP cord-014712-5u4e00q6 545 7 was be VBD cord-014712-5u4e00q6 546 1 37.4 37.4 CD cord-014712-5u4e00q6 546 2 ± ± CD cord-014712-5u4e00q6 546 3 3.7 3.7 CD cord-014712-5u4e00q6 546 4 and and CC cord-014712-5u4e00q6 546 5 second second JJ cord-014712-5u4e00q6 546 6 QS QS NNP cord-014712-5u4e00q6 546 7 was be VBD cord-014712-5u4e00q6 546 8 42 42 CD cord-014712-5u4e00q6 546 9 ± ± NNP cord-014712-5u4e00q6 546 10 4.3 4.3 CD cord-014712-5u4e00q6 546 11 ( ( -LRB- cord-014712-5u4e00q6 546 12 p p NN cord-014712-5u4e00q6 546 13 < < XX cord-014712-5u4e00q6 546 14 0.05 0.05 CD cord-014712-5u4e00q6 546 15 ) ) -RRB- cord-014712-5u4e00q6 546 16 . . . cord-014712-5u4e00q6 547 1 There there EX cord-014712-5u4e00q6 547 2 was be VBD cord-014712-5u4e00q6 547 3 no no DT cord-014712-5u4e00q6 547 4 statistically statistically RB cord-014712-5u4e00q6 547 5 difference difference NN cord-014712-5u4e00q6 547 6 in in IN cord-014712-5u4e00q6 547 7 gender gender NN cord-014712-5u4e00q6 547 8 ( ( -LRB- cord-014712-5u4e00q6 547 9 60 60 CD cord-014712-5u4e00q6 547 10 M m NN cord-014712-5u4e00q6 547 11 and and CC cord-014712-5u4e00q6 547 12 56 56 CD cord-014712-5u4e00q6 547 13 F F NNP cord-014712-5u4e00q6 547 14 ) ) -RRB- cord-014712-5u4e00q6 547 15 . . . cord-014712-5u4e00q6 548 1 Of of IN cord-014712-5u4e00q6 548 2 69 69 CD cord-014712-5u4e00q6 548 3 questions question NNS cord-014712-5u4e00q6 548 4 , , , cord-014712-5u4e00q6 548 5 there there EX cord-014712-5u4e00q6 548 6 were be VBD cord-014712-5u4e00q6 548 7 39 39 CD cord-014712-5u4e00q6 548 8 related relate VBN cord-014712-5u4e00q6 548 9 with with IN cord-014712-5u4e00q6 548 10 PID PID NNP cord-014712-5u4e00q6 548 11 directly directly RB cord-014712-5u4e00q6 548 12 . . . cord-014712-5u4e00q6 549 1 The the DT cord-014712-5u4e00q6 549 2 correct correct JJ cord-014712-5u4e00q6 549 3 responses response NNS cord-014712-5u4e00q6 549 4 rate rate VBP cord-014712-5u4e00q6 549 5 less less JJR cord-014712-5u4e00q6 549 6 than than IN cord-014712-5u4e00q6 549 7 50 50 CD cord-014712-5u4e00q6 549 8 % % NN cord-014712-5u4e00q6 549 9 before before IN cord-014712-5u4e00q6 549 10 education education NN cord-014712-5u4e00q6 549 11 were be VBD cord-014712-5u4e00q6 549 12 10 10 CD cord-014712-5u4e00q6 549 13 of of IN cord-014712-5u4e00q6 549 14 39 39 CD cord-014712-5u4e00q6 549 15 questions question NNS cord-014712-5u4e00q6 549 16 . . . cord-014712-5u4e00q6 550 1 All all DT cord-014712-5u4e00q6 550 2 participants participant NNS cord-014712-5u4e00q6 550 3 corrected correct VBD cord-014712-5u4e00q6 550 4 their -PRON- PRP$ cord-014712-5u4e00q6 550 5 responses response NNS cord-014712-5u4e00q6 550 6 after after IN cord-014712-5u4e00q6 550 7 education education NN cord-014712-5u4e00q6 550 8 . . . cord-014712-5u4e00q6 551 1 The the DT cord-014712-5u4e00q6 551 2 best good JJS cord-014712-5u4e00q6 551 3 improvement improvement NN cord-014712-5u4e00q6 551 4 was be VBD cord-014712-5u4e00q6 551 5 detected detect VBN cord-014712-5u4e00q6 551 6 in in IN cord-014712-5u4e00q6 551 7 the the DT cord-014712-5u4e00q6 551 8 responses response NNS cord-014712-5u4e00q6 551 9 of of IN cord-014712-5u4e00q6 551 10 the the DT cord-014712-5u4e00q6 551 11 clinical clinical JJ cord-014712-5u4e00q6 551 12 signs sign NNS cord-014712-5u4e00q6 551 13 related relate VBN cord-014712-5u4e00q6 551 14 with with IN cord-014712-5u4e00q6 551 15 PID PID NNP cord-014712-5u4e00q6 551 16 . . . cord-014712-5u4e00q6 552 1 It -PRON- PRP cord-014712-5u4e00q6 552 2 was be VBD cord-014712-5u4e00q6 552 3 remarkable remarkable JJ cord-014712-5u4e00q6 552 4 that that IN cord-014712-5u4e00q6 552 5 the the DT cord-014712-5u4e00q6 552 6 participants participant NNS cord-014712-5u4e00q6 552 7 have have VBP cord-014712-5u4e00q6 552 8 known know VBN cord-014712-5u4e00q6 552 9 the the DT cord-014712-5u4e00q6 552 10 family family NN cord-014712-5u4e00q6 552 11 history history NN cord-014712-5u4e00q6 552 12 related relate VBN cord-014712-5u4e00q6 552 13 with with IN cord-014712-5u4e00q6 552 14 PID PID NNP cord-014712-5u4e00q6 552 15 excellent excellent JJ cord-014712-5u4e00q6 552 16 before before IN cord-014712-5u4e00q6 552 17 education education NN cord-014712-5u4e00q6 552 18 . . . cord-014712-5u4e00q6 553 1 The the DT cord-014712-5u4e00q6 553 2 majority majority NN cord-014712-5u4e00q6 553 3 of of IN cord-014712-5u4e00q6 553 4 the the DT cord-014712-5u4e00q6 553 5 participants participant NNS cord-014712-5u4e00q6 553 6 ( ( -LRB- cord-014712-5u4e00q6 553 7 80 80 CD cord-014712-5u4e00q6 553 8 % % NN cord-014712-5u4e00q6 553 9 ) ) -RRB- cord-014712-5u4e00q6 553 10 believed believe VBD cord-014712-5u4e00q6 553 11 that that IN cord-014712-5u4e00q6 553 12 a a DT cord-014712-5u4e00q6 553 13 lymphocyte lymphocyte NN cord-014712-5u4e00q6 553 14 count count NN cord-014712-5u4e00q6 553 15 of of IN cord-014712-5u4e00q6 553 16 2500 2500 CD cord-014712-5u4e00q6 553 17 / / SYM cord-014712-5u4e00q6 553 18 mm3 mm3 NNS cord-014712-5u4e00q6 553 19 was be VBD cord-014712-5u4e00q6 553 20 related relate VBN cord-014712-5u4e00q6 553 21 to to IN cord-014712-5u4e00q6 553 22 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 553 23 . . . cord-014712-5u4e00q6 554 1 NBT NBT NNP cord-014712-5u4e00q6 554 2 and and CC cord-014712-5u4e00q6 554 3 CH50 CH50 NNP cord-014712-5u4e00q6 554 4 test test NN cord-014712-5u4e00q6 554 5 were be VBD cord-014712-5u4e00q6 554 6 not not RB cord-014712-5u4e00q6 554 7 found find VBN cord-014712-5u4e00q6 554 8 to to TO cord-014712-5u4e00q6 554 9 be be VB cord-014712-5u4e00q6 554 10 related relate VBN cord-014712-5u4e00q6 554 11 with with IN cord-014712-5u4e00q6 554 12 PID PID NNP cord-014712-5u4e00q6 554 13 before before IN cord-014712-5u4e00q6 554 14 education education NN cord-014712-5u4e00q6 554 15 . . . cord-014712-5u4e00q6 555 1 It -PRON- PRP cord-014712-5u4e00q6 555 2 is be VBZ cord-014712-5u4e00q6 555 3 also also RB cord-014712-5u4e00q6 555 4 important important JJ cord-014712-5u4e00q6 555 5 to to TO cord-014712-5u4e00q6 555 6 increase increase VB cord-014712-5u4e00q6 555 7 the the DT cord-014712-5u4e00q6 555 8 awareness awareness NN cord-014712-5u4e00q6 555 9 of of IN cord-014712-5u4e00q6 555 10 PID PID NNP cord-014712-5u4e00q6 555 11 among among IN cord-014712-5u4e00q6 555 12 the the DT cord-014712-5u4e00q6 555 13 physicians physician NNS cord-014712-5u4e00q6 555 14 during during IN cord-014712-5u4e00q6 555 15 their -PRON- PRP$ cord-014712-5u4e00q6 555 16 education education NN cord-014712-5u4e00q6 555 17 in in IN cord-014712-5u4e00q6 555 18 medical medical JJ cord-014712-5u4e00q6 555 19 school school NN cord-014712-5u4e00q6 555 20 and and CC cord-014712-5u4e00q6 555 21 more more RBR cord-014712-5u4e00q6 555 22 comprehensive comprehensive JJ cord-014712-5u4e00q6 555 23 education education NN cord-014712-5u4e00q6 555 24 in in IN cord-014712-5u4e00q6 555 25 PID PID NNP cord-014712-5u4e00q6 555 26 appears appear VBZ cord-014712-5u4e00q6 555 27 to to TO cord-014712-5u4e00q6 555 28 be be VB cord-014712-5u4e00q6 555 29 useful useful JJ cord-014712-5u4e00q6 555 30 for for IN cord-014712-5u4e00q6 555 31 medical medical JJ cord-014712-5u4e00q6 555 32 students student NNS cord-014712-5u4e00q6 555 33 . . . cord-014712-5u4e00q6 556 1 Chronic chronic JJ cord-014712-5u4e00q6 556 2 granulomatous granulomatous JJ cord-014712-5u4e00q6 556 3 disease disease NN cord-014712-5u4e00q6 556 4 ( ( -LRB- cord-014712-5u4e00q6 556 5 CGD CGD NNP cord-014712-5u4e00q6 556 6 ) ) -RRB- cord-014712-5u4e00q6 556 7 is be VBZ cord-014712-5u4e00q6 556 8 a a DT cord-014712-5u4e00q6 556 9 rare rare JJ cord-014712-5u4e00q6 556 10 primary primary JJ cord-014712-5u4e00q6 556 11 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 556 12 with with IN cord-014712-5u4e00q6 556 13 mutations mutation NNS cord-014712-5u4e00q6 556 14 in in IN cord-014712-5u4e00q6 556 15 NADPH NADPH NNP cord-014712-5u4e00q6 556 16 oxidase oxidase NN cord-014712-5u4e00q6 556 17 enzyme enzyme NN cord-014712-5u4e00q6 556 18 complex complex NN cord-014712-5u4e00q6 556 19 which which WDT cord-014712-5u4e00q6 556 20 causes cause VBZ cord-014712-5u4e00q6 556 21 failure failure NN cord-014712-5u4e00q6 556 22 of of IN cord-014712-5u4e00q6 556 23 phagocytic phagocytic JJ cord-014712-5u4e00q6 556 24 cells cell NNS cord-014712-5u4e00q6 556 25 to to TO cord-014712-5u4e00q6 556 26 produce produce VB cord-014712-5u4e00q6 556 27 superoxide superoxide NN cord-014712-5u4e00q6 556 28 and and CC cord-014712-5u4e00q6 556 29 subsequent subsequent JJ cord-014712-5u4e00q6 556 30 intracellular intracellular JJ cord-014712-5u4e00q6 556 31 killing killing NN cord-014712-5u4e00q6 556 32 of of IN cord-014712-5u4e00q6 556 33 microorganisms microorganism NNS cord-014712-5u4e00q6 556 34 . . . cord-014712-5u4e00q6 557 1 We -PRON- PRP cord-014712-5u4e00q6 557 2 retrospectively retrospectively RB cord-014712-5u4e00q6 557 3 analysed analyse VBD cord-014712-5u4e00q6 557 4 medical medical JJ cord-014712-5u4e00q6 557 5 records record NNS cord-014712-5u4e00q6 557 6 of of IN cord-014712-5u4e00q6 557 7 patients patient NNS cord-014712-5u4e00q6 557 8 diagnosed diagnose VBN cord-014712-5u4e00q6 557 9 with with IN cord-014712-5u4e00q6 557 10 CGD CGD NNP cord-014712-5u4e00q6 557 11 in in IN cord-014712-5u4e00q6 557 12 the the DT cord-014712-5u4e00q6 557 13 last last JJ cord-014712-5u4e00q6 557 14 35 35 CD cord-014712-5u4e00q6 557 15 years year NNS cord-014712-5u4e00q6 557 16 from from IN cord-014712-5u4e00q6 557 17 immunological immunological JJ cord-014712-5u4e00q6 557 18 diagnostic diagnostic JJ cord-014712-5u4e00q6 557 19 centres centre NNS cord-014712-5u4e00q6 557 20 from from IN cord-014712-5u4e00q6 557 21 9 9 CD cord-014712-5u4e00q6 557 22 central central JJ cord-014712-5u4e00q6 557 23 and and CC cord-014712-5u4e00q6 557 24 eastern eastern JJ cord-014712-5u4e00q6 557 25 European european JJ cord-014712-5u4e00q6 557 26 countries country NNS cord-014712-5u4e00q6 557 27 ( ( -LRB- cord-014712-5u4e00q6 557 28 Estonia Estonia NNP cord-014712-5u4e00q6 557 29 , , , cord-014712-5u4e00q6 557 30 Poland Poland NNP cord-014712-5u4e00q6 557 31 , , , cord-014712-5u4e00q6 557 32 Belarus Belarus NNP cord-014712-5u4e00q6 557 33 , , , cord-014712-5u4e00q6 557 34 Ukraine Ukraine NNP cord-014712-5u4e00q6 557 35 , , , cord-014712-5u4e00q6 557 36 Czech Czech NNP cord-014712-5u4e00q6 557 37 Republic Republic NNP cord-014712-5u4e00q6 557 38 , , , cord-014712-5u4e00q6 557 39 Slovakia Slovakia NNP cord-014712-5u4e00q6 557 40 , , , cord-014712-5u4e00q6 557 41 Hungary Hungary NNP cord-014712-5u4e00q6 557 42 , , , cord-014712-5u4e00q6 557 43 Serbia Serbia NNP cord-014712-5u4e00q6 557 44 and and CC cord-014712-5u4e00q6 557 45 Slovenia Slovenia NNP cord-014712-5u4e00q6 557 46 ) ) -RRB- cord-014712-5u4e00q6 557 47 and and CC cord-014712-5u4e00q6 557 48 Russia Russia NNP cord-014712-5u4e00q6 557 49 . . . cord-014712-5u4e00q6 558 1 Genetic genetic JJ cord-014712-5u4e00q6 558 2 sequencing sequencing NN cord-014712-5u4e00q6 558 3 from from IN cord-014712-5u4e00q6 558 4 patients patient NNS cord-014712-5u4e00q6 558 5 ' ' POS cord-014712-5u4e00q6 558 6 DNA DNA NNP cord-014712-5u4e00q6 558 7 was be VBD cord-014712-5u4e00q6 558 8 performed perform VBN cord-014712-5u4e00q6 558 9 in in IN cord-014712-5u4e00q6 558 10 genetic genetic JJ cord-014712-5u4e00q6 558 11 centres centre NNS cord-014712-5u4e00q6 558 12 in in IN cord-014712-5u4e00q6 558 13 Ljubljana Ljubljana NNP cord-014712-5u4e00q6 558 14 , , , cord-014712-5u4e00q6 558 15 Belarus Belarus NNP cord-014712-5u4e00q6 558 16 and and CC cord-014712-5u4e00q6 558 17 Netherlands Netherlands NNP cord-014712-5u4e00q6 558 18 for for IN cord-014712-5u4e00q6 558 19 mutations mutation NNS cord-014712-5u4e00q6 558 20 in in IN cord-014712-5u4e00q6 558 21 known know VBN cord-014712-5u4e00q6 558 22 genes gene NNS cord-014712-5u4e00q6 558 23 involved involve VBN cord-014712-5u4e00q6 558 24 in in IN cord-014712-5u4e00q6 558 25 CGD CGD NNP cord-014712-5u4e00q6 558 26 pathogenesis pathogenesis NN cord-014712-5u4e00q6 558 27 : : : cord-014712-5u4e00q6 558 28 CYBB CYBB NNP cord-014712-5u4e00q6 558 29 , , , cord-014712-5u4e00q6 558 30 CYBA CYBA NNP cord-014712-5u4e00q6 558 31 , , , cord-014712-5u4e00q6 558 32 NCF1 NCF1 NNP cord-014712-5u4e00q6 558 33 , , , cord-014712-5u4e00q6 558 34 NCF2 NCF2 NNP cord-014712-5u4e00q6 558 35 . . . cord-014712-5u4e00q6 559 1 We -PRON- PRP cord-014712-5u4e00q6 559 2 included include VBD cord-014712-5u4e00q6 559 3 104 104 CD cord-014712-5u4e00q6 559 4 patients patient NNS cord-014712-5u4e00q6 559 5 with with IN cord-014712-5u4e00q6 559 6 CGD CGD NNP cord-014712-5u4e00q6 559 7 in in IN cord-014712-5u4e00q6 559 8 our -PRON- PRP$ cord-014712-5u4e00q6 559 9 cohort cohort NN cord-014712-5u4e00q6 559 10 , , , cord-014712-5u4e00q6 559 11 7 7 CD cord-014712-5u4e00q6 559 12 were be VBD cord-014712-5u4e00q6 559 13 female female JJ cord-014712-5u4e00q6 559 14 . . . cord-014712-5u4e00q6 560 1 The the DT cord-014712-5u4e00q6 560 2 mean mean JJ cord-014712-5u4e00q6 560 3 age age NN cord-014712-5u4e00q6 560 4 at at IN cord-014712-5u4e00q6 560 5 presentation presentation NN cord-014712-5u4e00q6 560 6 of of IN cord-014712-5u4e00q6 560 7 the the DT cord-014712-5u4e00q6 560 8 disease disease NN cord-014712-5u4e00q6 560 9 was be VBD cord-014712-5u4e00q6 560 10 12 12 CD cord-014712-5u4e00q6 560 11 months month NNS cord-014712-5u4e00q6 560 12 and and CC cord-014712-5u4e00q6 560 13 at at IN cord-014712-5u4e00q6 560 14 diagnosis diagnosis NN cord-014712-5u4e00q6 560 15 3,9 3,9 CD cord-014712-5u4e00q6 560 16 years year NNS cord-014712-5u4e00q6 560 17 . . . cord-014712-5u4e00q6 561 1 Lymphadenitis Lymphadenitis NNP cord-014712-5u4e00q6 561 2 ( ( -LRB- cord-014712-5u4e00q6 561 3 43 43 CD cord-014712-5u4e00q6 561 4 % % NN cord-014712-5u4e00q6 561 5 ) ) -RRB- cord-014712-5u4e00q6 561 6 , , , cord-014712-5u4e00q6 561 7 dermatitis dermatitis NN cord-014712-5u4e00q6 561 8 ( ( -LRB- cord-014712-5u4e00q6 561 9 16 16 CD cord-014712-5u4e00q6 561 10 % % NN cord-014712-5u4e00q6 561 11 ) ) -RRB- cord-014712-5u4e00q6 561 12 , , , cord-014712-5u4e00q6 561 13 enteritis enteritis NN cord-014712-5u4e00q6 561 14 ( ( -LRB- cord-014712-5u4e00q6 561 15 16 16 CD cord-014712-5u4e00q6 561 16 % % NN cord-014712-5u4e00q6 561 17 ) ) -RRB- cord-014712-5u4e00q6 561 18 , , , cord-014712-5u4e00q6 561 19 pulmonary pulmonary JJ cord-014712-5u4e00q6 561 20 infections infection NNS cord-014712-5u4e00q6 561 21 ( ( -LRB- cord-014712-5u4e00q6 561 22 13 13 CD cord-014712-5u4e00q6 561 23 % % NN cord-014712-5u4e00q6 561 24 ) ) -RRB- cord-014712-5u4e00q6 561 25 , , , cord-014712-5u4e00q6 561 26 liver liver NN cord-014712-5u4e00q6 561 27 abscesses abscess NNS cord-014712-5u4e00q6 561 28 ( ( -LRB- cord-014712-5u4e00q6 561 29 4 4 CD cord-014712-5u4e00q6 561 30 % % NN cord-014712-5u4e00q6 561 31 ) ) -RRB- cord-014712-5u4e00q6 561 32 and and CC cord-014712-5u4e00q6 561 33 septicaemia septicaemia NN cord-014712-5u4e00q6 561 34 ( ( -LRB- cord-014712-5u4e00q6 561 35 6 6 CD cord-014712-5u4e00q6 561 36 % % NN cord-014712-5u4e00q6 561 37 ) ) -RRB- cord-014712-5u4e00q6 561 38 were be VBD cord-014712-5u4e00q6 561 39 the the DT cord-014712-5u4e00q6 561 40 most most RBS cord-014712-5u4e00q6 561 41 common common JJ cord-014712-5u4e00q6 561 42 clinical clinical JJ cord-014712-5u4e00q6 561 43 presentation presentation NN cord-014712-5u4e00q6 561 44 . . . cord-014712-5u4e00q6 562 1 Complications complication NNS cord-014712-5u4e00q6 562 2 of of IN cord-014712-5u4e00q6 562 3 BCG BCG NNP cord-014712-5u4e00q6 562 4 vaccination vaccination NN cord-014712-5u4e00q6 562 5 ( ( -LRB- cord-014712-5u4e00q6 562 6 28 28 CD cord-014712-5u4e00q6 562 7 % % NN cord-014712-5u4e00q6 562 8 ) ) -RRB- cord-014712-5u4e00q6 562 9 were be VBD cord-014712-5u4e00q6 562 10 the the DT cord-014712-5u4e00q6 562 11 most most RBS cord-014712-5u4e00q6 562 12 common common JJ cord-014712-5u4e00q6 562 13 presenting present VBG cord-014712-5u4e00q6 562 14 infection infection NN cord-014712-5u4e00q6 562 15 . . . cord-014712-5u4e00q6 563 1 In in IN cord-014712-5u4e00q6 563 2 total total JJ cord-014712-5u4e00q6 563 3 917,4 917,4 CD cord-014712-5u4e00q6 563 4 years year NNS cord-014712-5u4e00q6 563 5 of of IN cord-014712-5u4e00q6 563 6 followup followup NN cord-014712-5u4e00q6 563 7 in in IN cord-014712-5u4e00q6 563 8 our -PRON- PRP$ cord-014712-5u4e00q6 563 9 cohort cohort NN cord-014712-5u4e00q6 563 10 , , , cord-014712-5u4e00q6 563 11 the the DT cord-014712-5u4e00q6 563 12 patients patient NNS cord-014712-5u4e00q6 563 13 suffered suffer VBD cord-014712-5u4e00q6 563 14 834 834 CD cord-014712-5u4e00q6 563 15 different different JJ cord-014712-5u4e00q6 563 16 severe severe JJ cord-014712-5u4e00q6 563 17 infectious infectious JJ cord-014712-5u4e00q6 563 18 episodes episode NNS cord-014712-5u4e00q6 563 19 ( ( -LRB- cord-014712-5u4e00q6 563 20 0.9 0.9 CD cord-014712-5u4e00q6 563 21 per per IN cord-014712-5u4e00q6 563 22 year year NN cord-014712-5u4e00q6 563 23 ) ) -RRB- cord-014712-5u4e00q6 563 24 . . . cord-014712-5u4e00q6 564 1 Respiratory respiratory JJ cord-014712-5u4e00q6 564 2 ( ( -LRB- cord-014712-5u4e00q6 564 3 25 25 CD cord-014712-5u4e00q6 564 4 % % NN cord-014712-5u4e00q6 564 5 ) ) -RRB- cord-014712-5u4e00q6 564 6 , , , cord-014712-5u4e00q6 564 7 Lymph lymph NN cord-014712-5u4e00q6 564 8 node node NN cord-014712-5u4e00q6 564 9 ( ( -LRB- cord-014712-5u4e00q6 564 10 25 25 CD cord-014712-5u4e00q6 564 11 % % NN cord-014712-5u4e00q6 564 12 ) ) -RRB- cord-014712-5u4e00q6 564 13 and and CC cord-014712-5u4e00q6 564 14 gastrointestinal gastrointestinal JJ cord-014712-5u4e00q6 564 15 tract tract NN cord-014712-5u4e00q6 564 16 ( ( -LRB- cord-014712-5u4e00q6 564 17 18 18 CD cord-014712-5u4e00q6 564 18 % % NN cord-014712-5u4e00q6 564 19 ) ) -RRB- cord-014712-5u4e00q6 564 20 infections infection NNS cord-014712-5u4e00q6 564 21 represented represent VBD cord-014712-5u4e00q6 564 22 the the DT cord-014712-5u4e00q6 564 23 most most RBS cord-014712-5u4e00q6 564 24 prevalent prevalent JJ cord-014712-5u4e00q6 564 25 severe severe JJ cord-014712-5u4e00q6 564 26 infections infection NNS cord-014712-5u4e00q6 564 27 . . . cord-014712-5u4e00q6 565 1 We -PRON- PRP cord-014712-5u4e00q6 565 2 identified identify VBD cord-014712-5u4e00q6 565 3 87 87 CD cord-014712-5u4e00q6 565 4 different different JJ cord-014712-5u4e00q6 565 5 mutations mutation NNS cord-014712-5u4e00q6 565 6 out out IN cord-014712-5u4e00q6 565 7 of of IN cord-014712-5u4e00q6 565 8 104 104 CD cord-014712-5u4e00q6 565 9 genes gene NNS cord-014712-5u4e00q6 565 10 tested test VBN cord-014712-5u4e00q6 565 11 . . . cord-014712-5u4e00q6 566 1 In in IN cord-014712-5u4e00q6 566 2 78 78 CD cord-014712-5u4e00q6 566 3 patients patient NNS cord-014712-5u4e00q6 566 4 we -PRON- PRP cord-014712-5u4e00q6 566 5 identified identify VBD cord-014712-5u4e00q6 566 6 different different JJ cord-014712-5u4e00q6 566 7 mutations mutation NNS cord-014712-5u4e00q6 566 8 in in IN cord-014712-5u4e00q6 566 9 CYBB CYBB NNP cord-014712-5u4e00q6 566 10 gene gene NN cord-014712-5u4e00q6 566 11 , , , cord-014712-5u4e00q6 566 12 2 2 CD cord-014712-5u4e00q6 566 13 unrelated unrelated JJ cord-014712-5u4e00q6 566 14 patients patient NNS cord-014712-5u4e00q6 566 15 had have VBD cord-014712-5u4e00q6 566 16 the the DT cord-014712-5u4e00q6 566 17 same same JJ cord-014712-5u4e00q6 566 18 mutation mutation NN cord-014712-5u4e00q6 566 19 in in IN cord-014712-5u4e00q6 566 20 CYBA CYBA NNP cord-014712-5u4e00q6 566 21 gene gene NN cord-014712-5u4e00q6 566 22 and and CC cord-014712-5u4e00q6 566 23 in in IN cord-014712-5u4e00q6 566 24 5 5 CD cord-014712-5u4e00q6 566 25 patients patient NNS cord-014712-5u4e00q6 566 26 had have VBD cord-014712-5u4e00q6 566 27 typical typical JJ cord-014712-5u4e00q6 566 28 deletion deletion NN cord-014712-5u4e00q6 566 29 in in IN cord-014712-5u4e00q6 566 30 NCF1 NCF1 NNP cord-014712-5u4e00q6 566 31 gene gene NN cord-014712-5u4e00q6 566 32 . . . cord-014712-5u4e00q6 567 1 In in IN cord-014712-5u4e00q6 567 2 our -PRON- PRP$ cord-014712-5u4e00q6 567 3 cohort cohort NN cord-014712-5u4e00q6 567 4 we -PRON- PRP cord-014712-5u4e00q6 567 5 observed observe VBD cord-014712-5u4e00q6 567 6 high high JJ cord-014712-5u4e00q6 567 7 incidence incidence NN cord-014712-5u4e00q6 567 8 of of IN cord-014712-5u4e00q6 567 9 BCG BCG NNP cord-014712-5u4e00q6 567 10 infections infection NNS cord-014712-5u4e00q6 567 11 as as IN cord-014712-5u4e00q6 567 12 a a DT cord-014712-5u4e00q6 567 13 presenting present VBG cord-014712-5u4e00q6 567 14 symptom symptom NN cord-014712-5u4e00q6 567 15 . . . cord-014712-5u4e00q6 568 1 Apart apart RB cord-014712-5u4e00q6 568 2 from from IN cord-014712-5u4e00q6 568 3 high high JJ cord-014712-5u4e00q6 568 4 BCG BCG NNP cord-014712-5u4e00q6 568 5 infections infection NNS cord-014712-5u4e00q6 568 6 patients patient NNS cord-014712-5u4e00q6 568 7 included include VBN cord-014712-5u4e00q6 568 8 in in IN cord-014712-5u4e00q6 568 9 our -PRON- PRP$ cord-014712-5u4e00q6 568 10 study study NN cord-014712-5u4e00q6 568 11 had have VBD cord-014712-5u4e00q6 568 12 similar similar JJ cord-014712-5u4e00q6 568 13 frequencies frequency NNS cord-014712-5u4e00q6 568 14 of of IN cord-014712-5u4e00q6 568 15 infections infection NNS cord-014712-5u4e00q6 568 16 and and CC cord-014712-5u4e00q6 568 17 infecting infect VBG cord-014712-5u4e00q6 568 18 microorganisms microorganism NNS cord-014712-5u4e00q6 568 19 as as IN cord-014712-5u4e00q6 568 20 patients patient NNS cord-014712-5u4e00q6 568 21 described describe VBN cord-014712-5u4e00q6 568 22 in in IN cord-014712-5u4e00q6 568 23 previous previous JJ cord-014712-5u4e00q6 568 24 series series NN cord-014712-5u4e00q6 568 25 . . . cord-014712-5u4e00q6 569 1 Objectives objective NNS cord-014712-5u4e00q6 569 2 : : : cord-014712-5u4e00q6 570 1 The the DT cord-014712-5u4e00q6 570 2 aim aim NN cord-014712-5u4e00q6 570 3 of of IN cord-014712-5u4e00q6 570 4 this this DT cord-014712-5u4e00q6 570 5 study study NN cord-014712-5u4e00q6 570 6 is be VBZ cord-014712-5u4e00q6 570 7 to to TO cord-014712-5u4e00q6 570 8 determine determine VB cord-014712-5u4e00q6 570 9 the the DT cord-014712-5u4e00q6 570 10 carrier carrier NN cord-014712-5u4e00q6 570 11 rate rate NN cord-014712-5u4e00q6 570 12 in in IN cord-014712-5u4e00q6 570 13 healthy healthy JJ cord-014712-5u4e00q6 570 14 controls control NNS cord-014712-5u4e00q6 570 15 from from IN cord-014712-5u4e00q6 570 16 Central central JJ cord-014712-5u4e00q6 570 17 European european JJ cord-014712-5u4e00q6 570 18 and and CC cord-014712-5u4e00q6 570 19 Balkan balkan JJ cord-014712-5u4e00q6 570 20 region region NN cord-014712-5u4e00q6 570 21 . . . cord-014712-5u4e00q6 571 1 Methods method NNS cord-014712-5u4e00q6 571 2 : : : cord-014712-5u4e00q6 571 3 We -PRON- PRP cord-014712-5u4e00q6 571 4 screened screen VBD cord-014712-5u4e00q6 571 5 more more JJR cord-014712-5u4e00q6 571 6 than than IN cord-014712-5u4e00q6 571 7 500 500 CD cord-014712-5u4e00q6 571 8 healthy healthy JJ cord-014712-5u4e00q6 571 9 subjects subject NNS cord-014712-5u4e00q6 571 10 from from IN cord-014712-5u4e00q6 571 11 5 5 CD cord-014712-5u4e00q6 571 12 countries country NNS cord-014712-5u4e00q6 571 13 in in IN cord-014712-5u4e00q6 571 14 the the DT cord-014712-5u4e00q6 571 15 region region NN cord-014712-5u4e00q6 571 16 . . . cord-014712-5u4e00q6 572 1 Exon exon NN cord-014712-5u4e00q6 572 2 2 2 CD cord-014712-5u4e00q6 572 3 and and CC cord-014712-5u4e00q6 572 4 10 10 CD cord-014712-5u4e00q6 572 5 was be VBD cord-014712-5u4e00q6 572 6 PCR PCR NNP cord-014712-5u4e00q6 572 7 amplified amplify VBN cord-014712-5u4e00q6 572 8 and and CC cord-014712-5u4e00q6 572 9 subsequently subsequently RB cord-014712-5u4e00q6 572 10 sequenced sequence VBN cord-014712-5u4e00q6 572 11 with with IN cord-014712-5u4e00q6 572 12 ABI ABI NNP cord-014712-5u4e00q6 572 13 prism prism NN cord-014712-5u4e00q6 572 14 310 310 CD cord-014712-5u4e00q6 572 15 genetic genetic JJ cord-014712-5u4e00q6 572 16 analyzer analyzer NN cord-014712-5u4e00q6 572 17 . . . cord-014712-5u4e00q6 573 1 Results result NNS cord-014712-5u4e00q6 573 2 : : : cord-014712-5u4e00q6 574 1 Heterozygous heterozygous JJ cord-014712-5u4e00q6 574 2 mutations mutation NNS cord-014712-5u4e00q6 574 3 were be VBD cord-014712-5u4e00q6 574 4 found find VBN cord-014712-5u4e00q6 574 5 in in IN cord-014712-5u4e00q6 574 6 4 4 CD cord-014712-5u4e00q6 574 7 % % NN cord-014712-5u4e00q6 574 8 of of IN cord-014712-5u4e00q6 574 9 apparently apparently RB cord-014712-5u4e00q6 574 10 healthy healthy JJ cord-014712-5u4e00q6 574 11 Hungarians Hungarians NNPS cord-014712-5u4e00q6 574 12 , , , cord-014712-5u4e00q6 574 13 7 7 CD cord-014712-5u4e00q6 574 14 % % NN cord-014712-5u4e00q6 574 15 of of IN cord-014712-5u4e00q6 574 16 Slovenians Slovenians NNPS cord-014712-5u4e00q6 574 17 , , , cord-014712-5u4e00q6 574 18 8 8 CD cord-014712-5u4e00q6 574 19 % % NN cord-014712-5u4e00q6 574 20 of of IN cord-014712-5u4e00q6 574 21 Bosnians Bosnians NNPS cord-014712-5u4e00q6 574 22 , , , cord-014712-5u4e00q6 574 23 11 11 CD cord-014712-5u4e00q6 574 24 % % NN cord-014712-5u4e00q6 574 25 of of IN cord-014712-5u4e00q6 574 26 Serbians Serbians NNPS cord-014712-5u4e00q6 574 27 and and CC cord-014712-5u4e00q6 574 28 in in IN cord-014712-5u4e00q6 574 29 16 16 CD cord-014712-5u4e00q6 574 30 % % NN cord-014712-5u4e00q6 574 31 of of IN cord-014712-5u4e00q6 574 32 apparently apparently RB cord-014712-5u4e00q6 574 33 healthy healthy JJ cord-014712-5u4e00q6 574 34 Macedonians Macedonians NNPS cord-014712-5u4e00q6 574 35 . . . cord-014712-5u4e00q6 575 1 Mutations mutation NNS cord-014712-5u4e00q6 575 2 found find VBN cord-014712-5u4e00q6 575 3 in in IN cord-014712-5u4e00q6 575 4 Hungarian hungarian JJ cord-014712-5u4e00q6 575 5 population population NN cord-014712-5u4e00q6 575 6 were be VBD cord-014712-5u4e00q6 575 7 as as IN cord-014712-5u4e00q6 575 8 follows follow VBZ cord-014712-5u4e00q6 575 9 : : : cord-014712-5u4e00q6 575 10 V726A V726A NNP cord-014712-5u4e00q6 575 11 ( ( -LRB- cord-014712-5u4e00q6 575 12 1 1 CD cord-014712-5u4e00q6 575 13 ) ) -RRB- cord-014712-5u4e00q6 575 14 , , , cord-014712-5u4e00q6 575 15 K695R K695R NNP cord-014712-5u4e00q6 575 16 ( ( -LRB- cord-014712-5u4e00q6 575 17 3 3 CD cord-014712-5u4e00q6 575 18 ) ) -RRB- cord-014712-5u4e00q6 575 19 . . . cord-014712-5u4e00q6 576 1 Mutations mutation NNS cord-014712-5u4e00q6 576 2 found find VBN cord-014712-5u4e00q6 576 3 in in IN cord-014712-5u4e00q6 576 4 Slovenian slovenian JJ cord-014712-5u4e00q6 576 5 population population NN cord-014712-5u4e00q6 576 6 were be VBD cord-014712-5u4e00q6 576 7 : : : cord-014712-5u4e00q6 576 8 V726A V726A NNP cord-014712-5u4e00q6 576 9 ( ( -LRB- cord-014712-5u4e00q6 576 10 1 1 CD cord-014712-5u4e00q6 576 11 ) ) -RRB- cord-014712-5u4e00q6 576 12 , , , cord-014712-5u4e00q6 576 13 K695R K695R NNP cord-014712-5u4e00q6 576 14 ( ( -LRB- cord-014712-5u4e00q6 576 15 5 5 CD cord-014712-5u4e00q6 576 16 ) ) -RRB- cord-014712-5u4e00q6 576 17 and and CC cord-014712-5u4e00q6 576 18 E148Q E148Q NNPS cord-014712-5u4e00q6 576 19 ( ( -LRB- cord-014712-5u4e00q6 576 20 1 1 CD cord-014712-5u4e00q6 576 21 ) ) -RRB- cord-014712-5u4e00q6 576 22 . . . cord-014712-5u4e00q6 577 1 Mutations mutation NNS cord-014712-5u4e00q6 577 2 found find VBN cord-014712-5u4e00q6 577 3 in in IN cord-014712-5u4e00q6 577 4 Bosnian bosnian JJ cord-014712-5u4e00q6 577 5 population population NN cord-014712-5u4e00q6 577 6 were be VBD cord-014712-5u4e00q6 577 7 : : : cord-014712-5u4e00q6 577 8 V726A V726A NNP cord-014712-5u4e00q6 577 9 ( ( -LRB- cord-014712-5u4e00q6 577 10 1 1 CD cord-014712-5u4e00q6 577 11 ) ) -RRB- cord-014712-5u4e00q6 577 12 , , , cord-014712-5u4e00q6 577 13 K695R K695R NNP cord-014712-5u4e00q6 577 14 ( ( -LRB- cord-014712-5u4e00q6 577 15 6 6 CD cord-014712-5u4e00q6 577 16 ) ) -RRB- cord-014712-5u4e00q6 577 17 and and CC cord-014712-5u4e00q6 577 18 F756C F756C NNP cord-014712-5u4e00q6 577 19 ( ( -LRB- cord-014712-5u4e00q6 577 20 1 1 CD cord-014712-5u4e00q6 577 21 ) ) -RRB- cord-014712-5u4e00q6 577 22 . . . cord-014712-5u4e00q6 578 1 Mutations mutation NNS cord-014712-5u4e00q6 578 2 found find VBN cord-014712-5u4e00q6 578 3 in in IN cord-014712-5u4e00q6 578 4 Serbian serbian JJ cord-014712-5u4e00q6 578 5 population population NN cord-014712-5u4e00q6 578 6 were be VBD cord-014712-5u4e00q6 578 7 : : : cord-014712-5u4e00q6 578 8 E148Q E148Q NNP cord-014712-5u4e00q6 578 9 ( ( -LRB- cord-014712-5u4e00q6 578 10 6 6 CD cord-014712-5u4e00q6 578 11 ) ) -RRB- cord-014712-5u4e00q6 578 12 , , , cord-014712-5u4e00q6 578 13 K695R K695R NNP cord-014712-5u4e00q6 578 14 ( ( -LRB- cord-014712-5u4e00q6 578 15 5 5 CD cord-014712-5u4e00q6 578 16 ) ) -RRB- cord-014712-5u4e00q6 578 17 . . . cord-014712-5u4e00q6 579 1 Mutations mutation NNS cord-014712-5u4e00q6 579 2 found find VBN cord-014712-5u4e00q6 579 3 in in IN cord-014712-5u4e00q6 579 4 Macedonian macedonian JJ cord-014712-5u4e00q6 579 5 population population NN cord-014712-5u4e00q6 579 6 were be VBD cord-014712-5u4e00q6 579 7 as as IN cord-014712-5u4e00q6 579 8 follows follow VBZ cord-014712-5u4e00q6 579 9 : : : cord-014712-5u4e00q6 579 10 E148Q E148Q NNP cord-014712-5u4e00q6 579 11 ( ( -LRB- cord-014712-5u4e00q6 579 12 8) 8) NN cord-014712-5u4e00q6 579 13 , , , cord-014712-5u4e00q6 579 14 K695R K695R NNP cord-014712-5u4e00q6 579 15 ( ( -LRB- cord-014712-5u4e00q6 579 16 7 7 CD cord-014712-5u4e00q6 579 17 ) ) -RRB- cord-014712-5u4e00q6 579 18 and and CC cord-014712-5u4e00q6 579 19 M694V M694V NNP cord-014712-5u4e00q6 579 20 ( ( -LRB- cord-014712-5u4e00q6 579 21 1 1 CD cord-014712-5u4e00q6 579 22 ) ) -RRB- cord-014712-5u4e00q6 579 23 . . . cord-014712-5u4e00q6 580 1 Conclusion conclusion NN cord-014712-5u4e00q6 580 2 : : : cord-014712-5u4e00q6 580 3 We -PRON- PRP cord-014712-5u4e00q6 580 4 found find VBD cord-014712-5u4e00q6 580 5 higher high JJR cord-014712-5u4e00q6 580 6 than than IN cord-014712-5u4e00q6 580 7 expected expect VBN cord-014712-5u4e00q6 580 8 carrier carrier NN cord-014712-5u4e00q6 580 9 rate rate NN cord-014712-5u4e00q6 580 10 in in IN cord-014712-5u4e00q6 580 11 screened screen VBN cord-014712-5u4e00q6 580 12 populations population NNS cord-014712-5u4e00q6 580 13 , , , cord-014712-5u4e00q6 580 14 from from IN cord-014712-5u4e00q6 580 15 4 4 CD cord-014712-5u4e00q6 580 16 % % NN cord-014712-5u4e00q6 580 17 to to IN cord-014712-5u4e00q6 580 18 16 16 CD cord-014712-5u4e00q6 580 19 % % NN cord-014712-5u4e00q6 580 20 . . . cord-014712-5u4e00q6 581 1 It -PRON- PRP cord-014712-5u4e00q6 581 2 is be VBZ cord-014712-5u4e00q6 581 3 interesting interesting JJ cord-014712-5u4e00q6 581 4 to to TO cord-014712-5u4e00q6 581 5 note note VB cord-014712-5u4e00q6 581 6 that that IN cord-014712-5u4e00q6 581 7 more more JJR cord-014712-5u4e00q6 581 8 than than IN cord-014712-5u4e00q6 581 9 half half PDT cord-014712-5u4e00q6 581 10 ( ( -LRB- cord-014712-5u4e00q6 581 11 60 60 CD cord-014712-5u4e00q6 581 12 % % NN cord-014712-5u4e00q6 581 13 ) ) -RRB- cord-014712-5u4e00q6 581 14 of of IN cord-014712-5u4e00q6 581 15 detected detect VBN cord-014712-5u4e00q6 581 16 carriers carrier NNS cord-014712-5u4e00q6 581 17 in in IN cord-014712-5u4e00q6 581 18 all all DT cord-014712-5u4e00q6 581 19 analyzed analyze VBN cord-014712-5u4e00q6 581 20 populations population NNS cord-014712-5u4e00q6 581 21 has have VBZ cord-014712-5u4e00q6 581 22 K695R K695R NNP cord-014712-5u4e00q6 581 23 mutation mutation NN cord-014712-5u4e00q6 581 24 . . . cord-014712-5u4e00q6 582 1 Progress progress VB cord-014712-5u4e00q6 582 2 in in IN cord-014712-5u4e00q6 582 3 the the DT cord-014712-5u4e00q6 582 4 field field NN cord-014712-5u4e00q6 582 5 of of IN cord-014712-5u4e00q6 582 6 primary primary JJ cord-014712-5u4e00q6 582 7 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 582 8 ( ( -LRB- cord-014712-5u4e00q6 582 9 PIDs PIDs NNP cord-014712-5u4e00q6 582 10 ) ) -RRB- cord-014712-5u4e00q6 582 11 is be VBZ cord-014712-5u4e00q6 582 12 reflected reflect VBN cord-014712-5u4e00q6 582 13 in in IN cord-014712-5u4e00q6 582 14 national national JJ cord-014712-5u4e00q6 582 15 PID pid NN cord-014712-5u4e00q6 582 16 registries registry NNS cord-014712-5u4e00q6 582 17 . . . cord-014712-5u4e00q6 583 1 Data datum NNS cord-014712-5u4e00q6 583 2 from from IN cord-014712-5u4e00q6 583 3 Slovenian slovenian JJ cord-014712-5u4e00q6 583 4 PID pid NN cord-014712-5u4e00q6 583 5 registry registry NN cord-014712-5u4e00q6 583 6 were be VBD cord-014712-5u4e00q6 583 7 analyzed analyze VBN cord-014712-5u4e00q6 583 8 . . . cord-014712-5u4e00q6 584 1 Patients patient NNS cord-014712-5u4e00q6 584 2 ' ' POS cord-014712-5u4e00q6 584 3 data datum NNS cord-014712-5u4e00q6 584 4 were be VBD cord-014712-5u4e00q6 584 5 collected collect VBN cord-014712-5u4e00q6 584 6 retrospectively retrospectively RB cord-014712-5u4e00q6 584 7 before before IN cord-014712-5u4e00q6 584 8 2007 2007 CD cord-014712-5u4e00q6 584 9 and and CC cord-014712-5u4e00q6 584 10 prospectively prospectively RB cord-014712-5u4e00q6 584 11 afterward afterward RB cord-014712-5u4e00q6 584 12 . . . cord-014712-5u4e00q6 585 1 Patients patient NNS cord-014712-5u4e00q6 585 2 were be VBD cord-014712-5u4e00q6 585 3 classified classify VBN cord-014712-5u4e00q6 585 4 according accord VBG cord-014712-5u4e00q6 585 5 to to IN cord-014712-5u4e00q6 585 6 international international JJ cord-014712-5u4e00q6 585 7 classification classification NN cord-014712-5u4e00q6 585 8 and and CC cord-014712-5u4e00q6 585 9 updated update VBD cord-014712-5u4e00q6 585 10 regularly regularly RB cord-014712-5u4e00q6 585 11 . . . cord-014712-5u4e00q6 586 1 Data datum NNS cord-014712-5u4e00q6 586 2 of of IN cord-014712-5u4e00q6 586 3 193 193 CD cord-014712-5u4e00q6 586 4 patients patient NNS cord-014712-5u4e00q6 586 5 with with IN cord-014712-5u4e00q6 586 6 45 45 CD cord-014712-5u4e00q6 586 7 different different JJ cord-014712-5u4e00q6 586 8 PIDs pid NNS cord-014712-5u4e00q6 586 9 were be VBD cord-014712-5u4e00q6 586 10 analyzed analyze VBN cord-014712-5u4e00q6 586 11 . . . cord-014712-5u4e00q6 587 1 Interestingly interestingly RB cord-014712-5u4e00q6 587 2 , , , cord-014712-5u4e00q6 587 3 complement complement JJ cord-014712-5u4e00q6 587 4 deficiencies deficiency NNS cord-014712-5u4e00q6 587 5 are be VBP cord-014712-5u4e00q6 587 6 the the DT cord-014712-5u4e00q6 587 7 most most RBS cord-014712-5u4e00q6 587 8 common common JJ cord-014712-5u4e00q6 587 9 , , , cord-014712-5u4e00q6 587 10 accounting account VBG cord-014712-5u4e00q6 587 11 for for IN cord-014712-5u4e00q6 587 12 23 23 CD cord-014712-5u4e00q6 587 13 % % NN cord-014712-5u4e00q6 587 14 of of IN cord-014712-5u4e00q6 587 15 all all DT cord-014712-5u4e00q6 587 16 entries entry NNS cord-014712-5u4e00q6 587 17 . . . cord-014712-5u4e00q6 588 1 Second second LS cord-014712-5u4e00q6 588 2 most most RBS cord-014712-5u4e00q6 588 3 common common JJ cord-014712-5u4e00q6 588 4 are be VBP cord-014712-5u4e00q6 588 5 antibody antibody NN cord-014712-5u4e00q6 588 6 deficiencies deficiency NNS cord-014712-5u4e00q6 588 7 with with IN cord-014712-5u4e00q6 588 8 19 19 CD cord-014712-5u4e00q6 588 9 % % NN cord-014712-5u4e00q6 588 10 , , , cord-014712-5u4e00q6 588 11 followed follow VBN cord-014712-5u4e00q6 588 12 by by IN cord-014712-5u4e00q6 588 13 well well RB cord-014712-5u4e00q6 588 14 - - HYPH cord-014712-5u4e00q6 588 15 defined define VBN cord-014712-5u4e00q6 588 16 syndromes syndrome NNS cord-014712-5u4e00q6 588 17 ( ( -LRB- cord-014712-5u4e00q6 588 18 16 16 CD cord-014712-5u4e00q6 588 19 % % NN cord-014712-5u4e00q6 588 20 ) ) -RRB- cord-014712-5u4e00q6 588 21 , , , cord-014712-5u4e00q6 588 22 immune immune JJ cord-014712-5u4e00q6 588 23 dysregulation dysregulation NN cord-014712-5u4e00q6 588 24 ( ( -LRB- cord-014712-5u4e00q6 588 25 13 13 CD cord-014712-5u4e00q6 588 26 % % NN cord-014712-5u4e00q6 588 27 ) ) -RRB- cord-014712-5u4e00q6 588 28 , , , cord-014712-5u4e00q6 588 29 neutrophil neutrophil NN cord-014712-5u4e00q6 588 30 defects defect NNS cord-014712-5u4e00q6 588 31 ( ( -LRB- cord-014712-5u4e00q6 588 32 12 12 CD cord-014712-5u4e00q6 588 33 % % NN cord-014712-5u4e00q6 588 34 ) ) -RRB- cord-014712-5u4e00q6 588 35 , , , cord-014712-5u4e00q6 588 36 combined combine VBN cord-014712-5u4e00q6 588 37 deficiencies deficiency NNS cord-014712-5u4e00q6 588 38 ( ( -LRB- cord-014712-5u4e00q6 588 39 9 9 CD cord-014712-5u4e00q6 588 40 % % NN cord-014712-5u4e00q6 588 41 ) ) -RRB- cord-014712-5u4e00q6 588 42 , , , cord-014712-5u4e00q6 588 43 autoinflammatory autoinflammatory JJ cord-014712-5u4e00q6 588 44 disorders disorder NNS cord-014712-5u4e00q6 588 45 ( ( -LRB- cord-014712-5u4e00q6 588 46 6 6 CD cord-014712-5u4e00q6 588 47 % % NN cord-014712-5u4e00q6 588 48 ) ) -RRB- cord-014712-5u4e00q6 588 49 and and CC cord-014712-5u4e00q6 588 50 defects defect NNS cord-014712-5u4e00q6 588 51 of of IN cord-014712-5u4e00q6 588 52 innate innate JJ cord-014712-5u4e00q6 588 53 immunity immunity NN cord-014712-5u4e00q6 588 54 ( ( -LRB- cord-014712-5u4e00q6 588 55 2 2 CD cord-014712-5u4e00q6 588 56 % % NN cord-014712-5u4e00q6 588 57 ) ) -RRB- cord-014712-5u4e00q6 588 58 . . . cord-014712-5u4e00q6 589 1 Prevalence prevalence NN cord-014712-5u4e00q6 589 2 of of IN cord-014712-5u4e00q6 589 3 diagnosed diagnosed JJ cord-014712-5u4e00q6 589 4 PIDs pid NNS cord-014712-5u4e00q6 589 5 in in IN cord-014712-5u4e00q6 589 6 Slovenia Slovenia NNP cord-014712-5u4e00q6 589 7 has have VBZ cord-014712-5u4e00q6 589 8 changed change VBN cord-014712-5u4e00q6 589 9 in in IN cord-014712-5u4e00q6 589 10 the the DT cord-014712-5u4e00q6 589 11 last last JJ cord-014712-5u4e00q6 589 12 5 5 CD cord-014712-5u4e00q6 589 13 years year NNS cord-014712-5u4e00q6 589 14 ; ; : cord-014712-5u4e00q6 589 15 less less JJR cord-014712-5u4e00q6 589 16 complement complement JJ cord-014712-5u4e00q6 589 17 deficiencies deficiency NNS cord-014712-5u4e00q6 589 18 and and CC cord-014712-5u4e00q6 589 19 more more JJR cord-014712-5u4e00q6 589 20 antibody antibody NN cord-014712-5u4e00q6 589 21 deficiencies deficiency NNS cord-014712-5u4e00q6 589 22 were be VBD cord-014712-5u4e00q6 589 23 diagnosed diagnose VBN cord-014712-5u4e00q6 589 24 in in IN cord-014712-5u4e00q6 589 25 comparison comparison NN cord-014712-5u4e00q6 589 26 to to IN cord-014712-5u4e00q6 589 27 previous previous JJ cord-014712-5u4e00q6 589 28 decades decade NNS cord-014712-5u4e00q6 589 29 . . . cord-014712-5u4e00q6 590 1 The the DT cord-014712-5u4e00q6 590 2 number number NN cord-014712-5u4e00q6 590 3 of of IN cord-014712-5u4e00q6 590 4 new new JJ cord-014712-5u4e00q6 590 5 PID PID NNP cord-014712-5u4e00q6 590 6 cases case NNS cord-014712-5u4e00q6 590 7 has have VBZ cord-014712-5u4e00q6 590 8 been be VBN cord-014712-5u4e00q6 590 9 gradually gradually RB cord-014712-5u4e00q6 590 10 increasing increase VBG cord-014712-5u4e00q6 590 11 , , , cord-014712-5u4e00q6 590 12 a a DT cord-014712-5u4e00q6 590 13 more more RBR cord-014712-5u4e00q6 590 14 prominent prominent JJ cord-014712-5u4e00q6 590 15 increase increase NN cord-014712-5u4e00q6 590 16 has have VBZ cord-014712-5u4e00q6 590 17 been be VBN cord-014712-5u4e00q6 590 18 noted note VBN cord-014712-5u4e00q6 590 19 in in IN cord-014712-5u4e00q6 590 20 the the DT cord-014712-5u4e00q6 590 21 last last JJ cord-014712-5u4e00q6 590 22 10 10 CD cord-014712-5u4e00q6 590 23 years year NNS cord-014712-5u4e00q6 590 24 . . . cord-014712-5u4e00q6 591 1 The the DT cord-014712-5u4e00q6 591 2 prevalence prevalence NN cord-014712-5u4e00q6 591 3 increased increase VBD cord-014712-5u4e00q6 591 4 most most RBS cord-014712-5u4e00q6 591 5 for for IN cord-014712-5u4e00q6 591 6 combined combined JJ cord-014712-5u4e00q6 591 7 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 591 8 , , , cord-014712-5u4e00q6 591 9 CVID CVID NNP cord-014712-5u4e00q6 591 10 and and CC cord-014712-5u4e00q6 591 11 autoinflammatory autoinflammatory JJ cord-014712-5u4e00q6 591 12 disorders disorder NNS cord-014712-5u4e00q6 591 13 . . . cord-014712-5u4e00q6 592 1 The the DT cord-014712-5u4e00q6 592 2 spectrum spectrum NN cord-014712-5u4e00q6 592 3 of of IN cord-014712-5u4e00q6 592 4 PID PID NNP cord-014712-5u4e00q6 592 5 entities entity NNS cord-014712-5u4e00q6 592 6 has have VBZ cord-014712-5u4e00q6 592 7 also also RB cord-014712-5u4e00q6 592 8 widened widen VBN cord-014712-5u4e00q6 592 9 in in IN cord-014712-5u4e00q6 592 10 the the DT cord-014712-5u4e00q6 592 11 last last JJ cord-014712-5u4e00q6 592 12 decade decade NN cord-014712-5u4e00q6 592 13 . . . cord-014712-5u4e00q6 593 1 Three three CD cord-014712-5u4e00q6 593 2 patients patient NNS cord-014712-5u4e00q6 593 3 with with IN cord-014712-5u4e00q6 593 4 SCID SCID NNP cord-014712-5u4e00q6 593 5 were be VBD cord-014712-5u4e00q6 593 6 diagnosed diagnose VBN cord-014712-5u4e00q6 593 7 and and CC cord-014712-5u4e00q6 593 8 successfully successfully RB cord-014712-5u4e00q6 593 9 treated treat VBN cord-014712-5u4e00q6 593 10 in in IN cord-014712-5u4e00q6 593 11 the the DT cord-014712-5u4e00q6 593 12 last last JJ cord-014712-5u4e00q6 593 13 three three CD cord-014712-5u4e00q6 593 14 years year NNS cord-014712-5u4e00q6 593 15 ( ( -LRB- cord-014712-5u4e00q6 593 16 incidence incidence NN cord-014712-5u4e00q6 593 17 -1:25.000 -1:25.000 NFP cord-014712-5u4e00q6 593 18 births birth NNS cord-014712-5u4e00q6 593 19 ) ) -RRB- cord-014712-5u4e00q6 593 20 . . . cord-014712-5u4e00q6 594 1 High high JJ cord-014712-5u4e00q6 594 2 prevalence prevalence NN cord-014712-5u4e00q6 594 3 of of IN cord-014712-5u4e00q6 594 4 complement complement NN cord-014712-5u4e00q6 594 5 deficiencies deficiency NNS cord-014712-5u4e00q6 594 6 reflects reflect VBZ cord-014712-5u4e00q6 594 7 early early JJ cord-014712-5u4e00q6 594 8 implementation implementation NN cord-014712-5u4e00q6 594 9 of of IN cord-014712-5u4e00q6 594 10 good good JJ cord-014712-5u4e00q6 594 11 complement complement NN cord-014712-5u4e00q6 594 12 diagnostic diagnostic JJ cord-014712-5u4e00q6 594 13 facilities facility NNS cord-014712-5u4e00q6 594 14 and and CC cord-014712-5u4e00q6 594 15 awareness awareness NN cord-014712-5u4e00q6 594 16 among among IN cord-014712-5u4e00q6 594 17 infectologists infectologist NNS cord-014712-5u4e00q6 594 18 . . . cord-014712-5u4e00q6 595 1 This this DT cord-014712-5u4e00q6 595 2 group group NN cord-014712-5u4e00q6 595 3 of of IN cord-014712-5u4e00q6 595 4 patients patient NNS cord-014712-5u4e00q6 595 5 was be VBD cord-014712-5u4e00q6 595 6 prospectively prospectively RB cord-014712-5u4e00q6 595 7 collected collect VBN cord-014712-5u4e00q6 595 8 from from IN cord-014712-5u4e00q6 595 9 1987 1987 CD cord-014712-5u4e00q6 595 10 . . . cord-014712-5u4e00q6 596 1 Combined combined JJ cord-014712-5u4e00q6 596 2 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 596 3 , , , cord-014712-5u4e00q6 596 4 CVID CVID NNP cord-014712-5u4e00q6 596 5 and and CC cord-014712-5u4e00q6 596 6 autoinflammatory autoinflammatory NNP cord-014712-5u4e00q6 596 7 syndromes syndrome NNS cord-014712-5u4e00q6 596 8 were be VBD cord-014712-5u4e00q6 596 9 all all DT cord-014712-5u4e00q6 596 10 probably probably RB cord-014712-5u4e00q6 596 11 underdiagnosed underdiagnosed JJ cord-014712-5u4e00q6 596 12 before before IN cord-014712-5u4e00q6 596 13 due due IN cord-014712-5u4e00q6 596 14 to to IN cord-014712-5u4e00q6 596 15 lack lack NN cord-014712-5u4e00q6 596 16 of of IN cord-014712-5u4e00q6 596 17 awareness awareness NN cord-014712-5u4e00q6 596 18 among among IN cord-014712-5u4e00q6 596 19 physicians physician NNS cord-014712-5u4e00q6 596 20 . . . cord-014712-5u4e00q6 597 1 Distribution distribution NN cord-014712-5u4e00q6 597 2 of of IN cord-014712-5u4e00q6 597 3 PID PID NNP cord-014712-5u4e00q6 597 4 groups group NNS cord-014712-5u4e00q6 597 5 is be VBZ cord-014712-5u4e00q6 597 6 more more RBR cord-014712-5u4e00q6 597 7 consistent consistent JJ cord-014712-5u4e00q6 597 8 with with IN cord-014712-5u4e00q6 597 9 ESID ESID NNP cord-014712-5u4e00q6 597 10 registry registry NN cord-014712-5u4e00q6 597 11 in in IN cord-014712-5u4e00q6 597 12 the the DT cord-014712-5u4e00q6 597 13 last last JJ cord-014712-5u4e00q6 597 14 five five CD cord-014712-5u4e00q6 597 15 years year NNS cord-014712-5u4e00q6 597 16 . . . cord-014712-5u4e00q6 598 1 Identification identification NN cord-014712-5u4e00q6 598 2 and and CC cord-014712-5u4e00q6 598 3 successful successful JJ cord-014712-5u4e00q6 598 4 treatment treatment NN cord-014712-5u4e00q6 598 5 of of IN cord-014712-5u4e00q6 598 6 SCID SCID NNP cord-014712-5u4e00q6 598 7 patients patient NNS cord-014712-5u4e00q6 598 8 in in IN cord-014712-5u4e00q6 598 9 the the DT cord-014712-5u4e00q6 598 10 last last JJ cord-014712-5u4e00q6 598 11 years year NNS cord-014712-5u4e00q6 598 12 is be VBZ cord-014712-5u4e00q6 598 13 an an DT cord-014712-5u4e00q6 598 14 important important JJ cord-014712-5u4e00q6 598 15 quality quality NN cord-014712-5u4e00q6 598 16 marker marker NN cord-014712-5u4e00q6 598 17 . . . cord-014712-5u4e00q6 599 1 Bulgarian Bulgarian NNP cord-014712-5u4e00q6 599 2 Association Association NNP cord-014712-5u4e00q6 599 3 for for IN cord-014712-5u4e00q6 599 4 Clinical Clinical NNP cord-014712-5u4e00q6 599 5 Immunology Immunology NNP cord-014712-5u4e00q6 599 6 was be VBD cord-014712-5u4e00q6 599 7 set set VBN cord-014712-5u4e00q6 599 8 up up RP cord-014712-5u4e00q6 599 9 in in IN cord-014712-5u4e00q6 599 10 2005 2005 CD cord-014712-5u4e00q6 599 11 aiming aim VBG cord-014712-5u4e00q6 599 12 to to TO cord-014712-5u4e00q6 599 13 get get VB cord-014712-5u4e00q6 599 14 together together RB cord-014712-5u4e00q6 599 15 all all DT cord-014712-5u4e00q6 599 16 specialists specialist NNS cord-014712-5u4e00q6 599 17 working work VBG cord-014712-5u4e00q6 599 18 in in IN cord-014712-5u4e00q6 599 19 the the DT cord-014712-5u4e00q6 599 20 field field NN cord-014712-5u4e00q6 599 21 of of IN cord-014712-5u4e00q6 599 22 clinical clinical JJ cord-014712-5u4e00q6 599 23 immunology immunology NN cord-014712-5u4e00q6 599 24 . . . cord-014712-5u4e00q6 600 1 One one CD cord-014712-5u4e00q6 600 2 of of IN cord-014712-5u4e00q6 600 3 the the DT cord-014712-5u4e00q6 600 4 important important JJ cord-014712-5u4e00q6 600 5 objectives objective NNS cord-014712-5u4e00q6 600 6 of of IN cord-014712-5u4e00q6 600 7 the the DT cord-014712-5u4e00q6 600 8 association association NN cord-014712-5u4e00q6 600 9 was be VBD cord-014712-5u4e00q6 600 10 to to TO cord-014712-5u4e00q6 600 11 raise raise VB cord-014712-5u4e00q6 600 12 the the DT cord-014712-5u4e00q6 600 13 public public JJ cord-014712-5u4e00q6 600 14 awareness awareness NN cord-014712-5u4e00q6 600 15 and and CC cord-014712-5u4e00q6 600 16 attract attract VB cord-014712-5u4e00q6 600 17 attention attention NN cord-014712-5u4e00q6 600 18 of of IN cord-014712-5u4e00q6 600 19 specialists specialist NNS cord-014712-5u4e00q6 600 20 , , , cord-014712-5u4e00q6 600 21 National national JJ cord-014712-5u4e00q6 600 22 health health NN cord-014712-5u4e00q6 600 23 system system NN cord-014712-5u4e00q6 600 24 , , , cord-014712-5u4e00q6 600 25 government government NN cord-014712-5u4e00q6 600 26 and and CC cord-014712-5u4e00q6 600 27 other other JJ cord-014712-5u4e00q6 600 28 related related JJ cord-014712-5u4e00q6 600 29 societies society NNS cord-014712-5u4e00q6 600 30 in in IN cord-014712-5u4e00q6 600 31 order order NN cord-014712-5u4e00q6 600 32 to to TO cord-014712-5u4e00q6 600 33 improve improve VB cord-014712-5u4e00q6 600 34 the the DT cord-014712-5u4e00q6 600 35 diagnosis diagnosis NN cord-014712-5u4e00q6 600 36 and and CC cord-014712-5u4e00q6 600 37 access access NN cord-014712-5u4e00q6 600 38 to to IN cord-014712-5u4e00q6 600 39 treatment treatment NN cord-014712-5u4e00q6 600 40 for for IN cord-014712-5u4e00q6 600 41 children child NNS cord-014712-5u4e00q6 600 42 and and CC cord-014712-5u4e00q6 600 43 adults adult NNS cord-014712-5u4e00q6 600 44 with with IN cord-014712-5u4e00q6 600 45 PID PID NNP cord-014712-5u4e00q6 600 46 . . . cord-014712-5u4e00q6 601 1 Efforts effort NNS cord-014712-5u4e00q6 601 2 of of IN cord-014712-5u4e00q6 601 3 immunologists immunologist NNS cord-014712-5u4e00q6 601 4 led lead VBD cord-014712-5u4e00q6 601 5 to to IN cord-014712-5u4e00q6 601 6 the the DT cord-014712-5u4e00q6 601 7 following follow VBG cord-014712-5u4e00q6 601 8 results result NNS cord-014712-5u4e00q6 601 9 : : : cord-014712-5u4e00q6 601 10 1 1 CD cord-014712-5u4e00q6 601 11 . . . cord-014712-5u4e00q6 602 1 Consensus consensus NN cord-014712-5u4e00q6 602 2 on on IN cord-014712-5u4e00q6 602 3 the the DT cord-014712-5u4e00q6 602 4 diagnosis diagnosis NN cord-014712-5u4e00q6 602 5 and and CC cord-014712-5u4e00q6 602 6 treatment treatment NN cord-014712-5u4e00q6 602 7 of of IN cord-014712-5u4e00q6 602 8 the the DT cord-014712-5u4e00q6 602 9 basic basic JJ cord-014712-5u4e00q6 602 10 PID PID NNP cord-014712-5u4e00q6 602 11 groups group NNS cord-014712-5u4e00q6 602 12 was be VBD cord-014712-5u4e00q6 602 13 created create VBN cord-014712-5u4e00q6 602 14 by by IN cord-014712-5u4e00q6 602 15 the the DT cord-014712-5u4e00q6 602 16 PID PID NNP cord-014712-5u4e00q6 602 17 national national JJ cord-014712-5u4e00q6 602 18 working working NN cord-014712-5u4e00q6 602 19 group group NN cord-014712-5u4e00q6 602 20 that that WDT cord-014712-5u4e00q6 602 21 was be VBD cord-014712-5u4e00q6 602 22 established establish VBN cord-014712-5u4e00q6 602 23 in in IN cord-014712-5u4e00q6 602 24 2010 2010 CD cord-014712-5u4e00q6 602 25 , , , cord-014712-5u4e00q6 602 26 and and CC cord-014712-5u4e00q6 602 27 specific specific JJ cord-014712-5u4e00q6 602 28 guidelines guideline NNS cord-014712-5u4e00q6 602 29 were be VBD cord-014712-5u4e00q6 602 30 disseminated disseminate VBN cord-014712-5u4e00q6 602 31 as as RB cord-014712-5u4e00q6 602 32 well well RB cord-014712-5u4e00q6 602 33 . . . cord-014712-5u4e00q6 603 1 Register register VB cord-014712-5u4e00q6 603 2 for for IN cord-014712-5u4e00q6 603 3 PID PID NNP cord-014712-5u4e00q6 603 4 patients patient NNS cord-014712-5u4e00q6 603 5 has have VBZ cord-014712-5u4e00q6 603 6 been be VBN cord-014712-5u4e00q6 603 7 set set VBN cord-014712-5u4e00q6 603 8 up up RP cord-014712-5u4e00q6 603 9 in in IN cord-014712-5u4e00q6 603 10 Bulgaria Bulgaria NNP cord-014712-5u4e00q6 603 11 that that WDT cord-014712-5u4e00q6 603 12 allowed allow VBD cord-014712-5u4e00q6 603 13 the the DT cord-014712-5u4e00q6 603 14 collection collection NN cord-014712-5u4e00q6 603 15 of of IN cord-014712-5u4e00q6 603 16 data datum NNS cord-014712-5u4e00q6 603 17 on on IN cord-014712-5u4e00q6 603 18 the the DT cord-014712-5u4e00q6 603 19 incidence incidence NN cord-014712-5u4e00q6 603 20 and and CC cord-014712-5u4e00q6 603 21 prevalence prevalence NN cord-014712-5u4e00q6 603 22 of of IN cord-014712-5u4e00q6 603 23 PID pid NN cord-014712-5u4e00q6 603 24 and and CC cord-014712-5u4e00q6 603 25 the the DT cord-014712-5u4e00q6 603 26 negative negative JJ cord-014712-5u4e00q6 603 27 effect effect NN cord-014712-5u4e00q6 603 28 of of IN cord-014712-5u4e00q6 603 29 these these DT cord-014712-5u4e00q6 603 30 conditions condition NNS cord-014712-5u4e00q6 603 31 on on IN cord-014712-5u4e00q6 603 32 the the DT cord-014712-5u4e00q6 603 33 population population NN cord-014712-5u4e00q6 603 34 . . . cord-014712-5u4e00q6 604 1 3 3 LS cord-014712-5u4e00q6 604 2 . . . cord-014712-5u4e00q6 605 1 Educational educational JJ cord-014712-5u4e00q6 605 2 program program NN cord-014712-5u4e00q6 605 3 to to TO cord-014712-5u4e00q6 605 4 improve improve VB cord-014712-5u4e00q6 605 5 the the DT cord-014712-5u4e00q6 605 6 qualification qualification NN cord-014712-5u4e00q6 605 7 of of IN cord-014712-5u4e00q6 605 8 the the DT cord-014712-5u4e00q6 605 9 physicians physician NNS cord-014712-5u4e00q6 605 10 and and CC cord-014712-5u4e00q6 605 11 provide provide VB cord-014712-5u4e00q6 605 12 available available JJ cord-014712-5u4e00q6 605 13 resources resource NNS cord-014712-5u4e00q6 605 14 to to IN cord-014712-5u4e00q6 605 15 general general JJ cord-014712-5u4e00q6 605 16 practitioners practitioner NNS cord-014712-5u4e00q6 605 17 and and CC cord-014712-5u4e00q6 605 18 raise raise VB cord-014712-5u4e00q6 605 19 the the DT cord-014712-5u4e00q6 605 20 public public JJ cord-014712-5u4e00q6 605 21 awareness awareness NN cord-014712-5u4e00q6 605 22 were be VBD cord-014712-5u4e00q6 605 23 introduced introduce VBN cord-014712-5u4e00q6 605 24 . . . cord-014712-5u4e00q6 606 1 Collaboration collaboration NN cord-014712-5u4e00q6 606 2 with with IN cord-014712-5u4e00q6 606 3 patient patient NN cord-014712-5u4e00q6 606 4 's 's POS cord-014712-5u4e00q6 606 5 organizations organization NNS cord-014712-5u4e00q6 606 6 was be VBD cord-014712-5u4e00q6 606 7 developed develop VBN cord-014712-5u4e00q6 606 8 . . . cord-014712-5u4e00q6 607 1 5 5 LS cord-014712-5u4e00q6 607 2 . . . cord-014712-5u4e00q6 608 1 Treatment treatment NN cord-014712-5u4e00q6 608 2 of of IN cord-014712-5u4e00q6 608 3 PID PID NNP cord-014712-5u4e00q6 608 4 patients patient NNS cord-014712-5u4e00q6 608 5 has have VBZ cord-014712-5u4e00q6 608 6 been be VBN cord-014712-5u4e00q6 608 7 fully fully RB cord-014712-5u4e00q6 608 8 covered cover VBN cord-014712-5u4e00q6 608 9 by by IN cord-014712-5u4e00q6 608 10 the the DT cord-014712-5u4e00q6 608 11 public public JJ cord-014712-5u4e00q6 608 12 health health NN cord-014712-5u4e00q6 608 13 system system NN cord-014712-5u4e00q6 608 14 since since IN cord-014712-5u4e00q6 608 15 March March NNP cord-014712-5u4e00q6 608 16 2013 2013 CD cord-014712-5u4e00q6 608 17 . . . cord-014712-5u4e00q6 609 1 All all PDT cord-014712-5u4e00q6 609 2 these these DT cord-014712-5u4e00q6 609 3 steps step NNS cord-014712-5u4e00q6 609 4 made make VBD cord-014712-5u4e00q6 609 5 it -PRON- PRP cord-014712-5u4e00q6 609 6 possible possible JJ cord-014712-5u4e00q6 609 7 to to TO cord-014712-5u4e00q6 609 8 advance advance VB cord-014712-5u4e00q6 609 9 the the DT cord-014712-5u4e00q6 609 10 diagnosis diagnosis NN cord-014712-5u4e00q6 609 11 and and CC cord-014712-5u4e00q6 609 12 management management NN cord-014712-5u4e00q6 609 13 of of IN cord-014712-5u4e00q6 609 14 PID PID NNP cord-014712-5u4e00q6 609 15 in in IN cord-014712-5u4e00q6 609 16 our -PRON- PRP$ cord-014712-5u4e00q6 609 17 country country NN cord-014712-5u4e00q6 609 18 . . . cord-014712-5u4e00q6 610 1 PEDIATRIC pediatric JJ cord-014712-5u4e00q6 610 2 PID pid NN cord-014712-5u4e00q6 610 3 PATIENTS patient NNS cord-014712-5u4e00q6 610 4 CARE care VBP cord-014712-5u4e00q6 611 1 -SINGLE -SINGLE : cord-014712-5u4e00q6 611 2 CENTER center NN cord-014712-5u4e00q6 611 3 EXPERIENCE experience NN cord-014712-5u4e00q6 611 4 G. G. NNP cord-014712-5u4e00q6 611 5 Petrova Petrova NNP cord-014712-5u4e00q6 611 6 ; ; : cord-014712-5u4e00q6 611 7 P. P. NNP cord-014712-5u4e00q6 611 8 Perenovska Perenovska NNP cord-014712-5u4e00q6 611 9 ; ; : cord-014712-5u4e00q6 611 10 S. S. NNP cord-014712-5u4e00q6 611 11 Mihailova Mihailova NNP cord-014712-5u4e00q6 611 12 ; ; : cord-014712-5u4e00q6 611 13 E. E. NNP cord-014712-5u4e00q6 611 14 Naumova Naumova NNP cord-014712-5u4e00q6 611 15 UMHAT UMHAT NNP cord-014712-5u4e00q6 611 16 " " `` cord-014712-5u4e00q6 611 17 Alexandrovska Alexandrovska NNP cord-014712-5u4e00q6 611 18 " " '' cord-014712-5u4e00q6 611 19 , , , cord-014712-5u4e00q6 611 20 Sofia Sofia NNP cord-014712-5u4e00q6 611 21 , , , cord-014712-5u4e00q6 611 22 Bulgaria Bulgaria NNP cord-014712-5u4e00q6 611 23 J J NNP cord-014712-5u4e00q6 611 24 - - HYPH cord-014712-5u4e00q6 611 25 project project NN cord-014712-5u4e00q6 611 26 in in IN cord-014712-5u4e00q6 611 27 Bulgaria Bulgaria NNP cord-014712-5u4e00q6 611 28 started start VBD cord-014712-5u4e00q6 611 29 in in IN cord-014712-5u4e00q6 611 30 2005 2005 CD cord-014712-5u4e00q6 611 31 and and CC cord-014712-5u4e00q6 611 32 up up IN cord-014712-5u4e00q6 611 33 to to IN cord-014712-5u4e00q6 611 34 now now RB cord-014712-5u4e00q6 611 35 we -PRON- PRP cord-014712-5u4e00q6 611 36 have have VBP cord-014712-5u4e00q6 611 37 elaborated elaborate VBN cord-014712-5u4e00q6 611 38 programme programme NN cord-014712-5u4e00q6 611 39 with with IN cord-014712-5u4e00q6 611 40 diagnostic diagnostic JJ cord-014712-5u4e00q6 611 41 criteria criterion NNS cord-014712-5u4e00q6 611 42 , , , cord-014712-5u4e00q6 611 43 well well RB cord-014712-5u4e00q6 611 44 equipped equipped JJ cord-014712-5u4e00q6 611 45 laboratory laboratory NN cord-014712-5u4e00q6 611 46 , , , cord-014712-5u4e00q6 611 47 established establish VBD cord-014712-5u4e00q6 611 48 some some DT cord-014712-5u4e00q6 611 49 mutual mutual JJ cord-014712-5u4e00q6 611 50 connections connection NNS cord-014712-5u4e00q6 611 51 with with IN cord-014712-5u4e00q6 611 52 foreign foreign JJ cord-014712-5u4e00q6 611 53 colleagues colleague NNS cord-014712-5u4e00q6 611 54 , , , cord-014712-5u4e00q6 611 55 held hold VBD cord-014712-5u4e00q6 611 56 regional regional JJ cord-014712-5u4e00q6 611 57 meetings meeting NNS cord-014712-5u4e00q6 611 58 , , , cord-014712-5u4e00q6 611 59 conferences conference NNS cord-014712-5u4e00q6 611 60 ; ; , cord-014712-5u4e00q6 611 61 created create VBN cord-014712-5u4e00q6 611 62 clinical clinical JJ cord-014712-5u4e00q6 611 63 standards standard NNS cord-014712-5u4e00q6 611 64 for for IN cord-014712-5u4e00q6 611 65 treatment treatment NN cord-014712-5u4e00q6 611 66 and and CC cord-014712-5u4e00q6 611 67 ensured ensure VBD cord-014712-5u4e00q6 611 68 an an DT cord-014712-5u4e00q6 611 69 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 611 70 treatment treatment NN cord-014712-5u4e00q6 611 71 and and CC cord-014712-5u4e00q6 611 72 replacement replacement NN cord-014712-5u4e00q6 611 73 therapy therapy NN cord-014712-5u4e00q6 611 74 . . . cord-014712-5u4e00q6 612 1 Here here RB cord-014712-5u4e00q6 612 2 are be VBP cord-014712-5u4e00q6 612 3 examples example NNS cord-014712-5u4e00q6 612 4 of of IN cord-014712-5u4e00q6 612 5 some some DT cord-014712-5u4e00q6 612 6 of of IN cord-014712-5u4e00q6 612 7 the the DT cord-014712-5u4e00q6 612 8 problems problem NNS cord-014712-5u4e00q6 612 9 we -PRON- PRP cord-014712-5u4e00q6 612 10 face face VBP cord-014712-5u4e00q6 612 11 : : : cord-014712-5u4e00q6 612 12 1 1 CD cord-014712-5u4e00q6 612 13 . . . cord-014712-5u4e00q6 613 1 Seven seven CD cord-014712-5u4e00q6 613 2 - - HYPH cord-014712-5u4e00q6 613 3 years year NNS cord-014712-5u4e00q6 613 4 old old JJ cord-014712-5u4e00q6 613 5 boy boy NN cord-014712-5u4e00q6 613 6 with with IN cord-014712-5u4e00q6 613 7 hypogamaglobulinaemia hypogamaglobulinaemia NNP cord-014712-5u4e00q6 613 8 ( ( -LRB- cord-014712-5u4e00q6 613 9 normal normal JJ cord-014712-5u4e00q6 613 10 number number NN cord-014712-5u4e00q6 613 11 B b NN cord-014712-5u4e00q6 613 12 - - : cord-014712-5u4e00q6 613 13 Ly ly NN cord-014712-5u4e00q6 613 14 with with IN cord-014712-5u4e00q6 613 15 abnormal abnormal JJ cord-014712-5u4e00q6 613 16 function function NN cord-014712-5u4e00q6 613 17 ) ) -RRB- cord-014712-5u4e00q6 613 18 . . . cord-014712-5u4e00q6 614 1 IVIG IVIG NNP cord-014712-5u4e00q6 614 2 had have VBD cord-014712-5u4e00q6 614 3 some some DT cord-014712-5u4e00q6 614 4 initial initial JJ cord-014712-5u4e00q6 614 5 effect effect NN cord-014712-5u4e00q6 614 6 , , , cord-014712-5u4e00q6 614 7 but but CC cord-014712-5u4e00q6 614 8 lately lately RB cord-014712-5u4e00q6 614 9 we -PRON- PRP cord-014712-5u4e00q6 614 10 noted note VBD cord-014712-5u4e00q6 614 11 very very RB cord-014712-5u4e00q6 614 12 fast fast JJ cord-014712-5u4e00q6 614 13 deceleration deceleration NN cord-014712-5u4e00q6 614 14 in in IN cord-014712-5u4e00q6 614 15 the the DT cord-014712-5u4e00q6 614 16 overall overall JJ cord-014712-5u4e00q6 614 17 health health NN cord-014712-5u4e00q6 614 18 status status NN cord-014712-5u4e00q6 614 19 with with IN cord-014712-5u4e00q6 614 20 possible possible JJ cord-014712-5u4e00q6 614 21 need need NN cord-014712-5u4e00q6 614 22 of of IN cord-014712-5u4e00q6 614 23 lung lung NN cord-014712-5u4e00q6 614 24 transplantation transplantation NN cord-014712-5u4e00q6 614 25 . . . cord-014712-5u4e00q6 615 1 The the DT cord-014712-5u4e00q6 615 2 case case NN cord-014712-5u4e00q6 615 3 is be VBZ cord-014712-5u4e00q6 615 4 posing pose VBG cord-014712-5u4e00q6 615 5 a a DT cord-014712-5u4e00q6 615 6 question question NN cord-014712-5u4e00q6 615 7 what what WP cord-014712-5u4e00q6 615 8 more more JJR cord-014712-5u4e00q6 615 9 could could MD cord-014712-5u4e00q6 615 10 we -PRON- PRP cord-014712-5u4e00q6 615 11 do do VB cord-014712-5u4e00q6 615 12 , , , cord-014712-5u4e00q6 615 13 could could MD cord-014712-5u4e00q6 615 14 we -PRON- PRP cord-014712-5u4e00q6 615 15 have have VB cord-014712-5u4e00q6 615 16 prevented prevent VBN cord-014712-5u4e00q6 615 17 this this DT cord-014712-5u4e00q6 615 18 rapid rapid JJ cord-014712-5u4e00q6 615 19 worsening worsening NN cord-014712-5u4e00q6 615 20 . . . cord-014712-5u4e00q6 616 1 2 2 LS cord-014712-5u4e00q6 616 2 . . . cord-014712-5u4e00q6 617 1 Ten ten CD cord-014712-5u4e00q6 617 2 - - HYPH cord-014712-5u4e00q6 617 3 month month NN cord-014712-5u4e00q6 617 4 old old JJ cord-014712-5u4e00q6 617 5 girl girl NN cord-014712-5u4e00q6 617 6 with with IN cord-014712-5u4e00q6 617 7 SCID SCID NNP cord-014712-5u4e00q6 617 8 with with IN cord-014712-5u4e00q6 617 9 severe severe JJ cord-014712-5u4e00q6 617 10 BCG BCG NNP cord-014712-5u4e00q6 617 11 infection infection NN cord-014712-5u4e00q6 617 12 after after IN cord-014712-5u4e00q6 617 13 first first JJ cord-014712-5u4e00q6 617 14 vaccination vaccination NN cord-014712-5u4e00q6 617 15 , , , cord-014712-5u4e00q6 617 16 referred refer VBD cord-014712-5u4e00q6 617 17 relatively relatively RB cord-014712-5u4e00q6 617 18 late late JJ cord-014712-5u4e00q6 617 19 to to IN cord-014712-5u4e00q6 617 20 our -PRON- PRP$ cord-014712-5u4e00q6 617 21 center center NN cord-014712-5u4e00q6 617 22 , , , cord-014712-5u4e00q6 617 23 but but CC cord-014712-5u4e00q6 617 24 successfully successfully RB cord-014712-5u4e00q6 617 25 transplanted transplant VBN cord-014712-5u4e00q6 617 26 . . . cord-014712-5u4e00q6 618 1 The the DT cord-014712-5u4e00q6 618 2 case case NN cord-014712-5u4e00q6 618 3 is be VBZ cord-014712-5u4e00q6 618 4 posing pose VBG cord-014712-5u4e00q6 618 5 a a DT cord-014712-5u4e00q6 618 6 question question NN cord-014712-5u4e00q6 618 7 about about IN cord-014712-5u4e00q6 618 8 timing timing NN cord-014712-5u4e00q6 618 9 of of IN cord-014712-5u4e00q6 618 10 BCG BCG NNP cord-014712-5u4e00q6 618 11 vaccination vaccination NN cord-014712-5u4e00q6 618 12 and and CC cord-014712-5u4e00q6 618 13 of of IN cord-014712-5u4e00q6 618 14 referral referral NN cord-014712-5u4e00q6 618 15 to to IN cord-014712-5u4e00q6 618 16 specialized specialized JJ cord-014712-5u4e00q6 618 17 center center NN cord-014712-5u4e00q6 618 18 . . . cord-014712-5u4e00q6 619 1 3 3 LS cord-014712-5u4e00q6 619 2 . . . cord-014712-5u4e00q6 620 1 Nine nine CD cord-014712-5u4e00q6 620 2 - - HYPH cord-014712-5u4e00q6 620 3 years year NNS cord-014712-5u4e00q6 620 4 old old JJ cord-014712-5u4e00q6 620 5 girl girl NN cord-014712-5u4e00q6 620 6 with with IN cord-014712-5u4e00q6 620 7 unidentified unidentified JJ cord-014712-5u4e00q6 620 8 immune immune JJ cord-014712-5u4e00q6 620 9 deficiency deficiency NN cord-014712-5u4e00q6 620 10 , , , cord-014712-5u4e00q6 620 11 normal normal JJ cord-014712-5u4e00q6 620 12 immunological immunological JJ cord-014712-5u4e00q6 620 13 follow follow VBP cord-014712-5u4e00q6 620 14 up up RP cord-014712-5u4e00q6 620 15 but but CC cord-014712-5u4e00q6 620 16 clinical clinical JJ cord-014712-5u4e00q6 620 17 course course NN cord-014712-5u4e00q6 620 18 as as IN cord-014712-5u4e00q6 620 19 an an DT cord-014712-5u4e00q6 620 20 immune immune JJ cord-014712-5u4e00q6 620 21 deficiency deficiency NN cord-014712-5u4e00q6 620 22 with with IN cord-014712-5u4e00q6 620 23 very very RB cord-014712-5u4e00q6 620 24 favorable favorable JJ cord-014712-5u4e00q6 620 25 effect effect NN cord-014712-5u4e00q6 620 26 of of IN cord-014712-5u4e00q6 620 27 IVIG IVIG NNP cord-014712-5u4e00q6 620 28 according accord VBG cord-014712-5u4e00q6 620 29 the the DT cord-014712-5u4e00q6 620 30 parents parent NNS cord-014712-5u4e00q6 620 31 . . . cord-014712-5u4e00q6 621 1 The the DT cord-014712-5u4e00q6 621 2 case case NN cord-014712-5u4e00q6 621 3 is be VBZ cord-014712-5u4e00q6 621 4 posing pose VBG cord-014712-5u4e00q6 621 5 the the DT cord-014712-5u4e00q6 621 6 question question NN cord-014712-5u4e00q6 621 7 should should MD cord-014712-5u4e00q6 621 8 we -PRON- PRP cord-014712-5u4e00q6 621 9 stop stop VB cord-014712-5u4e00q6 621 10 or or CC cord-014712-5u4e00q6 621 11 should should MD cord-014712-5u4e00q6 621 12 we -PRON- PRP cord-014712-5u4e00q6 621 13 continue continue VB cord-014712-5u4e00q6 621 14 IVIG IVIG NNP cord-014712-5u4e00q6 621 15 , , , cord-014712-5u4e00q6 621 16 despite despite IN cord-014712-5u4e00q6 621 17 failing fail VBG cord-014712-5u4e00q6 621 18 to to TO cord-014712-5u4e00q6 621 19 find find VB cord-014712-5u4e00q6 621 20 immunological immunological JJ cord-014712-5u4e00q6 621 21 defect defect NN cord-014712-5u4e00q6 621 22 , , , cord-014712-5u4e00q6 621 23 based base VBN cord-014712-5u4e00q6 621 24 on on IN cord-014712-5u4e00q6 621 25 the the DT cord-014712-5u4e00q6 621 26 good good JJ cord-014712-5u4e00q6 621 27 clinical clinical JJ cord-014712-5u4e00q6 621 28 response response NN cord-014712-5u4e00q6 621 29 . . . cord-014712-5u4e00q6 622 1 Unfortunately unfortunately RB cord-014712-5u4e00q6 622 2 PIDs pid NNS cord-014712-5u4e00q6 622 3 are be VBP cord-014712-5u4e00q6 622 4 not not RB cord-014712-5u4e00q6 622 5 very very RB cord-014712-5u4e00q6 622 6 well well RB cord-014712-5u4e00q6 622 7 recognized recognized JJ cord-014712-5u4e00q6 622 8 and and CC cord-014712-5u4e00q6 622 9 sometimes sometimes RB cord-014712-5u4e00q6 622 10 the the DT cord-014712-5u4e00q6 622 11 patients patient NNS cord-014712-5u4e00q6 622 12 are be VBP cord-014712-5u4e00q6 622 13 referred refer VBN cord-014712-5u4e00q6 622 14 late late RB cord-014712-5u4e00q6 622 15 . . . cord-014712-5u4e00q6 623 1 Sometimes sometimes RB cord-014712-5u4e00q6 623 2 poverty poverty NN cord-014712-5u4e00q6 623 3 and and CC cord-014712-5u4e00q6 623 4 lack lack NN cord-014712-5u4e00q6 623 5 of of IN cord-014712-5u4e00q6 623 6 knowledge knowledge NN cord-014712-5u4e00q6 623 7 of of IN cord-014712-5u4e00q6 623 8 patients patient NNS cord-014712-5u4e00q6 623 9 leads lead VBZ cord-014712-5u4e00q6 623 10 to to IN cord-014712-5u4e00q6 623 11 miscalculation miscalculation NN cord-014712-5u4e00q6 623 12 and and CC cord-014712-5u4e00q6 623 13 neglecting neglecting NN cord-014712-5u4e00q6 623 14 of of IN cord-014712-5u4e00q6 623 15 their -PRON- PRP$ cord-014712-5u4e00q6 623 16 conditions condition NNS cord-014712-5u4e00q6 623 17 by by IN cord-014712-5u4e00q6 623 18 themselves -PRON- PRP cord-014712-5u4e00q6 623 19 , , , cord-014712-5u4e00q6 623 20 or or CC cord-014712-5u4e00q6 623 21 refusal refusal VB cord-014712-5u4e00q6 623 22 for for IN cord-014712-5u4e00q6 623 23 specific specific JJ cord-014712-5u4e00q6 623 24 tests test NNS cord-014712-5u4e00q6 623 25 for for IN cord-014712-5u4e00q6 623 26 clarifying clarify VBG cord-014712-5u4e00q6 623 27 the the DT cord-014712-5u4e00q6 623 28 diagnosis diagnosis NN cord-014712-5u4e00q6 623 29 . . . cord-014712-5u4e00q6 624 1 Background background NN cord-014712-5u4e00q6 624 2 : : : cord-014712-5u4e00q6 625 1 Although although IN cord-014712-5u4e00q6 625 2 rare rare JJ cord-014712-5u4e00q6 625 3 , , , cord-014712-5u4e00q6 625 4 Primary primary JJ cord-014712-5u4e00q6 625 5 immune immune JJ cord-014712-5u4e00q6 625 6 deficiencies deficiency NNS cord-014712-5u4e00q6 625 7 ( ( -LRB- cord-014712-5u4e00q6 625 8 PID PID NNP cord-014712-5u4e00q6 625 9 ) ) -RRB- cord-014712-5u4e00q6 625 10 are be VBP cord-014712-5u4e00q6 625 11 manifested manifest VBN cord-014712-5u4e00q6 625 12 with with IN cord-014712-5u4e00q6 625 13 high high JJ cord-014712-5u4e00q6 625 14 rate rate NN cord-014712-5u4e00q6 625 15 infections infection NNS cord-014712-5u4e00q6 625 16 as as RB cord-014712-5u4e00q6 625 17 well well RB cord-014712-5u4e00q6 625 18 as as IN cord-014712-5u4e00q6 625 19 with with IN cord-014712-5u4e00q6 625 20 autoimmune autoimmune JJ cord-014712-5u4e00q6 625 21 and and CC cord-014712-5u4e00q6 625 22 malignant malignant JJ cord-014712-5u4e00q6 625 23 disorders disorder NNS cord-014712-5u4e00q6 625 24 that that WDT cord-014712-5u4e00q6 625 25 are be VBP cord-014712-5u4e00q6 625 26 treated treat VBN cord-014712-5u4e00q6 625 27 hardly hardly RB cord-014712-5u4e00q6 625 28 and and CC cord-014712-5u4e00q6 625 29 inefficiently inefficiently RB cord-014712-5u4e00q6 625 30 . . . cord-014712-5u4e00q6 626 1 PID PID NNP cord-014712-5u4e00q6 626 2 are be VBP cord-014712-5u4e00q6 626 3 not not RB cord-014712-5u4e00q6 626 4 only only RB cord-014712-5u4e00q6 626 5 immunological immunological JJ cord-014712-5u4e00q6 626 6 problem problem NN cord-014712-5u4e00q6 626 7 ; ; : cord-014712-5u4e00q6 626 8 they -PRON- PRP cord-014712-5u4e00q6 626 9 require require VBP cord-014712-5u4e00q6 626 10 close close JJ cord-014712-5u4e00q6 626 11 collaboration collaboration NN cord-014712-5u4e00q6 626 12 between between IN cord-014712-5u4e00q6 626 13 immunologists immunologist NNS cord-014712-5u4e00q6 626 14 , , , cord-014712-5u4e00q6 626 15 pediatricians pediatrician NNS cord-014712-5u4e00q6 626 16 , , , cord-014712-5u4e00q6 626 17 ENT ENT NNP cord-014712-5u4e00q6 626 18 , , , cord-014712-5u4e00q6 626 19 lung lung NN cord-014712-5u4e00q6 626 20 and and CC cord-014712-5u4e00q6 626 21 gut gut NN cord-014712-5u4e00q6 626 22 specialists specialist NNS cord-014712-5u4e00q6 626 23 , , , cord-014712-5u4e00q6 626 24 dermatologists dermatologist NNS cord-014712-5u4e00q6 626 25 , , , cord-014712-5u4e00q6 626 26 hematologists hematologist NNS cord-014712-5u4e00q6 626 27 , , , cord-014712-5u4e00q6 626 28 oncologists oncologist NNS cord-014712-5u4e00q6 626 29 , , , cord-014712-5u4e00q6 626 30 patients patient NNS cord-014712-5u4e00q6 626 31 and and CC cord-014712-5u4e00q6 626 32 administration administration NN cord-014712-5u4e00q6 626 33 . . . cord-014712-5u4e00q6 627 1 The the DT cord-014712-5u4e00q6 627 2 aim aim NN cord-014712-5u4e00q6 627 3 of of IN cord-014712-5u4e00q6 627 4 this this DT cord-014712-5u4e00q6 627 5 study study NN cord-014712-5u4e00q6 627 6 was be VBD cord-014712-5u4e00q6 627 7 to to TO cord-014712-5u4e00q6 627 8 summarize summarize VB cord-014712-5u4e00q6 627 9 the the DT cord-014712-5u4e00q6 627 10 activity activity NN cord-014712-5u4e00q6 627 11 on on IN cord-014712-5u4e00q6 627 12 registration registration NN cord-014712-5u4e00q6 627 13 and and CC cord-014712-5u4e00q6 627 14 replacement replacement NN cord-014712-5u4e00q6 627 15 therapy therapy NN cord-014712-5u4e00q6 627 16 of of IN cord-014712-5u4e00q6 627 17 PID PID NNP cord-014712-5u4e00q6 627 18 patients patient NNS cord-014712-5u4e00q6 627 19 in in IN cord-014712-5u4e00q6 627 20 Plovdiv Plovdiv NNP cord-014712-5u4e00q6 627 21 region region NN cord-014712-5u4e00q6 627 22 at at IN cord-014712-5u4e00q6 627 23 the the DT cord-014712-5u4e00q6 627 24 University University NNP cord-014712-5u4e00q6 627 25 Hospital Hospital NNP cord-014712-5u4e00q6 627 26 " " '' cord-014712-5u4e00q6 627 27 St. St. NNP cord-014712-5u4e00q6 627 28 George"-Plovdiv George"-Plovdiv NNP cord-014712-5u4e00q6 627 29 for for IN cord-014712-5u4e00q6 627 30 1 1 CD cord-014712-5u4e00q6 627 31 year year NN cord-014712-5u4e00q6 627 32 ( ( -LRB- cord-014712-5u4e00q6 627 33 03.2013 03.2013 CD cord-014712-5u4e00q6 627 34 - - HYPH cord-014712-5u4e00q6 627 35 02.2014 02.2014 CD cord-014712-5u4e00q6 627 36 ) ) -RRB- cord-014712-5u4e00q6 627 37 . . . cord-014712-5u4e00q6 628 1 Methodology methodology NN cord-014712-5u4e00q6 628 2 : : : cord-014712-5u4e00q6 629 1 Children child NNS cord-014712-5u4e00q6 629 2 with with IN cord-014712-5u4e00q6 629 3 PID PID NNP cord-014712-5u4e00q6 629 4 of of IN cord-014712-5u4e00q6 629 5 humoral humoral JJ cord-014712-5u4e00q6 629 6 immunity immunity NN cord-014712-5u4e00q6 629 7 hospitalized hospitalize VBN cord-014712-5u4e00q6 629 8 at at IN cord-014712-5u4e00q6 629 9 the the DT cord-014712-5u4e00q6 629 10 Clinic Clinic NNP cord-014712-5u4e00q6 629 11 of of IN cord-014712-5u4e00q6 629 12 Pediatrics Pediatrics NNP cord-014712-5u4e00q6 629 13 , , , cord-014712-5u4e00q6 629 14 and and CC cord-014712-5u4e00q6 629 15 adults adult NNS cord-014712-5u4e00q6 629 16 with with IN cord-014712-5u4e00q6 629 17 Hereditary hereditary JJ cord-014712-5u4e00q6 629 18 angioedema angioedema NN cord-014712-5u4e00q6 629 19 ( ( -LRB- cord-014712-5u4e00q6 629 20 HAE HAE NNP cord-014712-5u4e00q6 629 21 ) ) -RRB- cord-014712-5u4e00q6 629 22 were be VBD cord-014712-5u4e00q6 629 23 included include VBN cord-014712-5u4e00q6 629 24 in in IN cord-014712-5u4e00q6 629 25 the the DT cord-014712-5u4e00q6 629 26 study study NN cord-014712-5u4e00q6 629 27 using use VBG cord-014712-5u4e00q6 629 28 immunological immunological JJ cord-014712-5u4e00q6 629 29 and and CC cord-014712-5u4e00q6 629 30 other other JJ cord-014712-5u4e00q6 629 31 lab lab NN cord-014712-5u4e00q6 629 32 tests test NNS cord-014712-5u4e00q6 629 33 , , , cord-014712-5u4e00q6 629 34 clinical clinical JJ cord-014712-5u4e00q6 629 35 follow follow VB cord-014712-5u4e00q6 629 36 up up RP cord-014712-5u4e00q6 629 37 and and CC cord-014712-5u4e00q6 629 38 treatment treatment NN cord-014712-5u4e00q6 629 39 : : : cord-014712-5u4e00q6 629 40 IV IV NNP cord-014712-5u4e00q6 629 41 and and CC cord-014712-5u4e00q6 629 42 SC SC NNP cord-014712-5u4e00q6 629 43 Ig Ig NNP cord-014712-5u4e00q6 629 44 for for IN cord-014712-5u4e00q6 629 45 children child NNS cord-014712-5u4e00q6 629 46 with with IN cord-014712-5u4e00q6 629 47 PID PID NNP cord-014712-5u4e00q6 629 48 and and CC cord-014712-5u4e00q6 629 49 C1 C1 NNP cord-014712-5u4e00q6 629 50 esterase esterase NN cord-014712-5u4e00q6 629 51 inhibitor inhibitor NN cord-014712-5u4e00q6 629 52 ( ( -LRB- cord-014712-5u4e00q6 629 53 Ruconest Ruconest NNP cord-014712-5u4e00q6 629 54 , , , cord-014712-5u4e00q6 629 55 Berinert Berinert NNP cord-014712-5u4e00q6 629 56 ) ) -RRB- cord-014712-5u4e00q6 629 57 for for IN cord-014712-5u4e00q6 629 58 HAE HAE NNP cord-014712-5u4e00q6 629 59 patients patient NNS cord-014712-5u4e00q6 629 60 . . . cord-014712-5u4e00q6 630 1 Results result NNS cord-014712-5u4e00q6 630 2 : : : cord-014712-5u4e00q6 631 1 Three three CD cord-014712-5u4e00q6 631 2 national national JJ cord-014712-5u4e00q6 631 3 workshops workshop NNS cord-014712-5u4e00q6 631 4 and and CC cord-014712-5u4e00q6 631 5 a a DT cord-014712-5u4e00q6 631 6 national national JJ cord-014712-5u4e00q6 631 7 conference conference NN cord-014712-5u4e00q6 631 8 on on IN cord-014712-5u4e00q6 631 9 PID PID NNP cord-014712-5u4e00q6 631 10 were be VBD cord-014712-5u4e00q6 631 11 hosted host VBN cord-014712-5u4e00q6 631 12 and and CC cord-014712-5u4e00q6 631 13 organized organize VBN cord-014712-5u4e00q6 631 14 in in IN cord-014712-5u4e00q6 631 15 Plovdiv Plovdiv NNP cord-014712-5u4e00q6 631 16 since since IN cord-014712-5u4e00q6 631 17 2005 2005 CD cord-014712-5u4e00q6 631 18 . . . cord-014712-5u4e00q6 632 1 Well well UH cord-014712-5u4e00q6 632 2 established established JJ cord-014712-5u4e00q6 632 3 university university NN cord-014712-5u4e00q6 632 4 hospital hospital NN cord-014712-5u4e00q6 632 5 immunological immunological JJ cord-014712-5u4e00q6 632 6 laboratory laboratory NN cord-014712-5u4e00q6 632 7 , , , cord-014712-5u4e00q6 632 8 detecting detect VBG cord-014712-5u4e00q6 632 9 serum serum NN cord-014712-5u4e00q6 632 10 immunogloblins immunogloblin NNS cord-014712-5u4e00q6 632 11 , , , cord-014712-5u4e00q6 632 12 blood blood NN cord-014712-5u4e00q6 632 13 lymphocyte lymphocyte NN cord-014712-5u4e00q6 632 14 populations population NNS cord-014712-5u4e00q6 632 15 and and CC cord-014712-5u4e00q6 632 16 subpopulations subpopulation NNS cord-014712-5u4e00q6 632 17 and and CC cord-014712-5u4e00q6 632 18 complement complement VB cord-014712-5u4e00q6 632 19 proteins protein NNS cord-014712-5u4e00q6 632 20 ; ; : cord-014712-5u4e00q6 632 21 Clinic Clinic NNP cord-014712-5u4e00q6 632 22 of of IN cord-014712-5u4e00q6 632 23 Pediatric Pediatric NNP cord-014712-5u4e00q6 632 24 and and CC cord-014712-5u4e00q6 632 25 Genetic Genetic NNP cord-014712-5u4e00q6 632 26 Diseases Diseases NNPS cord-014712-5u4e00q6 632 27 and and CC cord-014712-5u4e00q6 632 28 an an DT cord-014712-5u4e00q6 632 29 Information information NN cord-014712-5u4e00q6 632 30 center center NN cord-014712-5u4e00q6 632 31 for for IN cord-014712-5u4e00q6 632 32 Rare rare JJ cord-014712-5u4e00q6 632 33 diseases disease NNS cord-014712-5u4e00q6 632 34 and and CC cord-014712-5u4e00q6 632 35 Orphan Orphan NNP cord-014712-5u4e00q6 632 36 drugs drug NNS cord-014712-5u4e00q6 632 37 function function VBP cord-014712-5u4e00q6 632 38 in in IN cord-014712-5u4e00q6 632 39 Plovdiv Plovdiv NNP cord-014712-5u4e00q6 632 40 . . . cord-014712-5u4e00q6 633 1 An an DT cord-014712-5u4e00q6 633 2 Expert expert NN cord-014712-5u4e00q6 633 3 center center NN cord-014712-5u4e00q6 633 4 for for IN cord-014712-5u4e00q6 633 5 diagnosis diagnosis NN cord-014712-5u4e00q6 633 6 and and CC cord-014712-5u4e00q6 633 7 treatment treatment NN cord-014712-5u4e00q6 633 8 of of IN cord-014712-5u4e00q6 633 9 PID PID NNP cord-014712-5u4e00q6 633 10 was be VBD cord-014712-5u4e00q6 633 11 created create VBN cord-014712-5u4e00q6 633 12 at at IN cord-014712-5u4e00q6 633 13 the the DT cord-014712-5u4e00q6 633 14 University University NNP cord-014712-5u4e00q6 633 15 Hospital Hospital NNP cord-014712-5u4e00q6 633 16 . . . cord-014712-5u4e00q6 634 1 It -PRON- PRP cord-014712-5u4e00q6 634 2 is be VBZ cord-014712-5u4e00q6 634 3 a a DT cord-014712-5u4e00q6 634 4 team team NN cord-014712-5u4e00q6 634 5 of of IN cord-014712-5u4e00q6 634 6 two two CD cord-014712-5u4e00q6 634 7 competent competent JJ cord-014712-5u4e00q6 634 8 pediatricians pediatrician NNS cord-014712-5u4e00q6 634 9 , , , cord-014712-5u4e00q6 634 10 an an DT cord-014712-5u4e00q6 634 11 immunologist immunologist NN cord-014712-5u4e00q6 634 12 and and CC cord-014712-5u4e00q6 634 13 an an DT cord-014712-5u4e00q6 634 14 allergist allergist NN cord-014712-5u4e00q6 634 15 . . . cord-014712-5u4e00q6 635 1 The the DT cord-014712-5u4e00q6 635 2 targets target NNS cord-014712-5u4e00q6 635 3 are be VBP cord-014712-5u4e00q6 635 4 hospitalized hospitalize VBN cord-014712-5u4e00q6 635 5 PID PID NNP cord-014712-5u4e00q6 635 6 children child NNS cord-014712-5u4e00q6 635 7 , , , cord-014712-5u4e00q6 635 8 outpatient outpatient NN cord-014712-5u4e00q6 635 9 PID pid NN cord-014712-5u4e00q6 635 10 children child NNS cord-014712-5u4e00q6 635 11 and and CC cord-014712-5u4e00q6 635 12 HAE HAE NNP cord-014712-5u4e00q6 635 13 adults adult NNS cord-014712-5u4e00q6 635 14 . . . cord-014712-5u4e00q6 636 1 The the DT cord-014712-5u4e00q6 636 2 Center Center NNP cord-014712-5u4e00q6 636 3 introduced introduce VBD cord-014712-5u4e00q6 636 4 regular regular JJ cord-014712-5u4e00q6 636 5 replacement replacement NN cord-014712-5u4e00q6 636 6 therapy therapy NN cord-014712-5u4e00q6 636 7 with with IN cord-014712-5u4e00q6 636 8 IV IV NNP cord-014712-5u4e00q6 636 9 and and CC cord-014712-5u4e00q6 636 10 SC SC NNP cord-014712-5u4e00q6 636 11 IV IV NNP cord-014712-5u4e00q6 636 12 and and CC cord-014712-5u4e00q6 636 13 C1 C1 NNP cord-014712-5u4e00q6 636 14 Inhibitor Inhibitor NNP cord-014712-5u4e00q6 636 15 , , , cord-014712-5u4e00q6 636 16 reimbursed reimburse VBN cord-014712-5u4e00q6 636 17 by by IN cord-014712-5u4e00q6 636 18 the the DT cord-014712-5u4e00q6 636 19 National National NNP cord-014712-5u4e00q6 636 20 Insurance Insurance NNP cord-014712-5u4e00q6 636 21 . . . cord-014712-5u4e00q6 637 1 Together together RB cord-014712-5u4e00q6 637 2 with with IN cord-014712-5u4e00q6 637 3 ICRDOD ICRDOD NNS cord-014712-5u4e00q6 637 4 the the DT cord-014712-5u4e00q6 637 5 experts expert NNS cord-014712-5u4e00q6 637 6 provide provide VBP cord-014712-5u4e00q6 637 7 education education NN cord-014712-5u4e00q6 637 8 for for IN cord-014712-5u4e00q6 637 9 patients patient NNS cord-014712-5u4e00q6 637 10 and and CC cord-014712-5u4e00q6 637 11 parents parent NNS cord-014712-5u4e00q6 637 12 how how WRB cord-014712-5u4e00q6 637 13 to to TO cord-014712-5u4e00q6 637 14 perform perform VB cord-014712-5u4e00q6 637 15 SC SC NNP cord-014712-5u4e00q6 637 16 Ig Ig NNP cord-014712-5u4e00q6 637 17 application application NN cord-014712-5u4e00q6 637 18 as as RB cord-014712-5u4e00q6 637 19 well well RB cord-014712-5u4e00q6 637 20 as as IN cord-014712-5u4e00q6 637 21 consultations consultation NNS cord-014712-5u4e00q6 637 22 of of IN cord-014712-5u4e00q6 637 23 patients patient NNS cord-014712-5u4e00q6 637 24 and and CC cord-014712-5u4e00q6 637 25 relatives relative NNS cord-014712-5u4e00q6 637 26 about about IN cord-014712-5u4e00q6 637 27 PID.Since PID.Since NNP cord-014712-5u4e00q6 637 28 March March NNP cord-014712-5u4e00q6 637 29 2013 2013 CD cord-014712-5u4e00q6 637 30 indicated indicate VBD cord-014712-5u4e00q6 637 31 reimbursed reimburse VBN cord-014712-5u4e00q6 637 32 replacement replacement NN cord-014712-5u4e00q6 637 33 therapy therapy NN cord-014712-5u4e00q6 637 34 with with IN cord-014712-5u4e00q6 637 35 IV IV NNP cord-014712-5u4e00q6 638 1 Ig Ig NNP cord-014712-5u4e00q6 638 2 -Octagam -Octagam NNP cord-014712-5u4e00q6 638 3 , , , cord-014712-5u4e00q6 638 4 started start VBD cord-014712-5u4e00q6 638 5 regularly regularly RB cord-014712-5u4e00q6 638 6 in in IN cord-014712-5u4e00q6 638 7 5 5 CD cord-014712-5u4e00q6 638 8 hospitalized hospitalize VBN cord-014712-5u4e00q6 638 9 PID PID NNP cord-014712-5u4e00q6 638 10 children child NNS cord-014712-5u4e00q6 638 11 with with IN cord-014712-5u4e00q6 638 12 Bruton Bruton NNP cord-014712-5u4e00q6 638 13 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 638 14 , , , cord-014712-5u4e00q6 638 15 CVID CVID NNP cord-014712-5u4e00q6 638 16 , , , cord-014712-5u4e00q6 638 17 Omenn Omenn NNP cord-014712-5u4e00q6 638 18 syndrome syndrome NN cord-014712-5u4e00q6 638 19 or or CC cord-014712-5u4e00q6 638 20 IgG1 igg1 NN cord-014712-5u4e00q6 638 21 ID ID NNP cord-014712-5u4e00q6 638 22 . . . cord-014712-5u4e00q6 639 1 These these DT cord-014712-5u4e00q6 639 2 patients patient NNS cord-014712-5u4e00q6 639 3 , , , cord-014712-5u4e00q6 639 4 aged age VBN cord-014712-5u4e00q6 639 5 form form NN cord-014712-5u4e00q6 639 6 4 4 CD cord-014712-5u4e00q6 639 7 to to TO cord-014712-5u4e00q6 639 8 12 12 CD cord-014712-5u4e00q6 639 9 years year NNS cord-014712-5u4e00q6 639 10 , , , cord-014712-5u4e00q6 639 11 had have VBD cord-014712-5u4e00q6 639 12 2 2 CD cord-014712-5u4e00q6 639 13 to to TO cord-014712-5u4e00q6 639 14 6 6 CD cord-014712-5u4e00q6 639 15 hospitalizations hospitalization NNS cord-014712-5u4e00q6 639 16 for for IN cord-014712-5u4e00q6 639 17 one one CD cord-014712-5u4e00q6 639 18 year year NN cord-014712-5u4e00q6 639 19 . . . cord-014712-5u4e00q6 640 1 Four four CD cord-014712-5u4e00q6 640 2 outpatient outpatient NN cord-014712-5u4e00q6 640 3 children child NNS cord-014712-5u4e00q6 640 4 with with IN cord-014712-5u4e00q6 640 5 Omenn Omenn NNP cord-014712-5u4e00q6 640 6 syndrome syndrome NN cord-014712-5u4e00q6 640 7 or or CC cord-014712-5u4e00q6 640 8 IgG1 igg1 NN cord-014712-5u4e00q6 640 9 subclass subclass NN cord-014712-5u4e00q6 640 10 deficiency deficiency NN cord-014712-5u4e00q6 640 11 were be VBD cord-014712-5u4e00q6 640 12 subjected subject VBN cord-014712-5u4e00q6 640 13 to to IN cord-014712-5u4e00q6 640 14 SC SC NNP cord-014712-5u4e00q6 640 15 Ig Ig NNP cord-014712-5u4e00q6 640 16 -Gammanorm -Gammanorm NNP cord-014712-5u4e00q6 640 17 , , , cord-014712-5u4e00q6 640 18 and and CC cord-014712-5u4e00q6 640 19 7 7 CD cord-014712-5u4e00q6 640 20 HAE HAE NNP cord-014712-5u4e00q6 640 21 type type NN cord-014712-5u4e00q6 640 22 1 1 CD cord-014712-5u4e00q6 640 23 outpatients outpatient NNS cord-014712-5u4e00q6 640 24 had have VBD cord-014712-5u4e00q6 640 25 good good JJ cord-014712-5u4e00q6 640 26 response response NN cord-014712-5u4e00q6 640 27 for for IN cord-014712-5u4e00q6 640 28 replacement replacement NN cord-014712-5u4e00q6 640 29 C1 C1 NNP cord-014712-5u4e00q6 640 30 inhibitor inhibitor NN cord-014712-5u4e00q6 640 31 therapy therapy NN cord-014712-5u4e00q6 640 32 as as IN cord-014712-5u4e00q6 640 33 follows follow VBZ cord-014712-5u4e00q6 640 34 : : : cord-014712-5u4e00q6 641 1 Conestat Conestat NNP cord-014712-5u4e00q6 641 2 alfa alfa NNP cord-014712-5u4e00q6 641 3 ( ( -LRB- cord-014712-5u4e00q6 641 4 Ruconest)in Ruconest)in NNP cord-014712-5u4e00q6 641 5 5 5 CD cord-014712-5u4e00q6 641 6 HAE HAE NNP cord-014712-5u4e00q6 641 7 adults adult NNS cord-014712-5u4e00q6 641 8 ( ( -LRB- cord-014712-5u4e00q6 641 9 150 150 CD cord-014712-5u4e00q6 641 10 IU IU NNP cord-014712-5u4e00q6 641 11 / / , cord-014712-5u4e00q6 641 12 ml ml NN cord-014712-5u4e00q6 641 13 weekly weekly NN cord-014712-5u4e00q6 641 14 ) ) -RRB- cord-014712-5u4e00q6 641 15 , , , cord-014712-5u4e00q6 641 16 and and CC cord-014712-5u4e00q6 641 17 Berinert Berinert NNP cord-014712-5u4e00q6 641 18 ( ( -LRB- cord-014712-5u4e00q6 641 19 20 20 CD cord-014712-5u4e00q6 641 20 U U NNP cord-014712-5u4e00q6 641 21 / / SYM cord-014712-5u4e00q6 641 22 kg kg NN cord-014712-5u4e00q6 641 23 b.w b.w NNP cord-014712-5u4e00q6 641 24 . . NNP cord-014712-5u4e00q6 641 25 weekley)in weekley)in NNP cord-014712-5u4e00q6 641 26 2 2 CD cord-014712-5u4e00q6 641 27 HAE HAE NNP cord-014712-5u4e00q6 641 28 adult adult NN cord-014712-5u4e00q6 641 29 patients patient NNS cord-014712-5u4e00q6 641 30 . . . cord-014712-5u4e00q6 642 1 Conclusions conclusion NNS cord-014712-5u4e00q6 642 2 : : : cord-014712-5u4e00q6 643 1 The the DT cord-014712-5u4e00q6 643 2 Expert Expert NNP cord-014712-5u4e00q6 643 3 PID PID NNP cord-014712-5u4e00q6 643 4 Center Center NNP cord-014712-5u4e00q6 643 5 in in IN cord-014712-5u4e00q6 643 6 Plovdiv Plovdiv NNP cord-014712-5u4e00q6 643 7 University University NNP cord-014712-5u4e00q6 643 8 Hospital Hospital NNP cord-014712-5u4e00q6 643 9 provides provide VBZ cord-014712-5u4e00q6 643 10 competent competent JJ cord-014712-5u4e00q6 643 11 diagnosis diagnosis NN cord-014712-5u4e00q6 643 12 , , , cord-014712-5u4e00q6 643 13 therapy therapy NN cord-014712-5u4e00q6 643 14 , , , cord-014712-5u4e00q6 643 15 education education NN cord-014712-5u4e00q6 643 16 and and CC cord-014712-5u4e00q6 643 17 consultations consultation NNS cord-014712-5u4e00q6 643 18 for for IN cord-014712-5u4e00q6 643 19 pediatric pediatric JJ cord-014712-5u4e00q6 643 20 and and CC cord-014712-5u4e00q6 643 21 adult adult NN cord-014712-5u4e00q6 643 22 PID pid NN cord-014712-5u4e00q6 643 23 patients patient NNS cord-014712-5u4e00q6 643 24 from from IN cord-014712-5u4e00q6 643 25 Plovdiv Plovdiv NNP cord-014712-5u4e00q6 643 26 region region NN cord-014712-5u4e00q6 643 27 . . . cord-014712-5u4e00q6 644 1 The the DT cord-014712-5u4e00q6 644 2 recent recent JJ cord-014712-5u4e00q6 644 3 introduction introduction NN cord-014712-5u4e00q6 644 4 of of IN cord-014712-5u4e00q6 644 5 reimbursed reimburse VBN cord-014712-5u4e00q6 644 6 replacement replacement NN cord-014712-5u4e00q6 644 7 therapy therapy NN cord-014712-5u4e00q6 644 8 for for IN cord-014712-5u4e00q6 644 9 PID PID NNP cord-014712-5u4e00q6 644 10 patients patient NNS cord-014712-5u4e00q6 644 11 ( ( -LRB- cord-014712-5u4e00q6 644 12 hospitalized hospitalize VBN cord-014712-5u4e00q6 644 13 or or CC cord-014712-5u4e00q6 644 14 outpatients outpatient NNS cord-014712-5u4e00q6 644 15 ) ) -RRB- cord-014712-5u4e00q6 644 16 allows allow VBZ cord-014712-5u4e00q6 644 17 regular regular JJ cord-014712-5u4e00q6 644 18 immunological immunological JJ cord-014712-5u4e00q6 644 19 and and CC cord-014712-5u4e00q6 644 20 clinical clinical JJ cord-014712-5u4e00q6 644 21 follow follow NN cord-014712-5u4e00q6 644 22 up up IN cord-014712-5u4e00q6 644 23 of of IN cord-014712-5u4e00q6 644 24 the the DT cord-014712-5u4e00q6 644 25 diseases disease NNS cord-014712-5u4e00q6 644 26 . . . cord-014712-5u4e00q6 645 1 Background background NN cord-014712-5u4e00q6 645 2 : : : cord-014712-5u4e00q6 646 1 Intravenous intravenous JJ cord-014712-5u4e00q6 646 2 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 646 3 ( ( -LRB- cord-014712-5u4e00q6 646 4 IVIGs ivig NNS cord-014712-5u4e00q6 646 5 ) ) -RRB- cord-014712-5u4e00q6 646 6 are be VBP cord-014712-5u4e00q6 646 7 scarce scarce JJ cord-014712-5u4e00q6 646 8 biological biological JJ cord-014712-5u4e00q6 646 9 products product NNS cord-014712-5u4e00q6 646 10 used use VBN cord-014712-5u4e00q6 646 11 in in IN cord-014712-5u4e00q6 646 12 a a DT cord-014712-5u4e00q6 646 13 broad broad JJ cord-014712-5u4e00q6 646 14 variety variety NN cord-014712-5u4e00q6 646 15 of of IN cord-014712-5u4e00q6 646 16 disorders disorder NNS cord-014712-5u4e00q6 646 17 . . . cord-014712-5u4e00q6 647 1 Tolerance tolerance NN cord-014712-5u4e00q6 647 2 to to IN cord-014712-5u4e00q6 647 3 infusions infusion NNS cord-014712-5u4e00q6 647 4 is be VBZ cord-014712-5u4e00q6 647 5 usually usually RB cord-014712-5u4e00q6 647 6 good good JJ cord-014712-5u4e00q6 647 7 but but CC cord-014712-5u4e00q6 647 8 adverse adverse JJ cord-014712-5u4e00q6 647 9 events event NNS cord-014712-5u4e00q6 647 10 , , , cord-014712-5u4e00q6 647 11 including include VBG cord-014712-5u4e00q6 647 12 some some DT cord-014712-5u4e00q6 647 13 serious serious JJ cord-014712-5u4e00q6 647 14 ones one NNS cord-014712-5u4e00q6 647 15 , , , cord-014712-5u4e00q6 647 16 have have VBP cord-014712-5u4e00q6 647 17 been be VBN cord-014712-5u4e00q6 647 18 reported report VBN cord-014712-5u4e00q6 647 19 . . . cord-014712-5u4e00q6 648 1 Methodology methodology NN cord-014712-5u4e00q6 648 2 : : : cord-014712-5u4e00q6 649 1 A a DT cord-014712-5u4e00q6 649 2 cohort cohort NN cord-014712-5u4e00q6 649 3 study study NN cord-014712-5u4e00q6 649 4 aimed aim VBN cord-014712-5u4e00q6 649 5 for for IN cord-014712-5u4e00q6 649 6 detection detection NN cord-014712-5u4e00q6 649 7 of of IN cord-014712-5u4e00q6 649 8 adverse adverse JJ cord-014712-5u4e00q6 649 9 events event NNS cord-014712-5u4e00q6 649 10 that that WDT cord-014712-5u4e00q6 649 11 occur occur VBP cord-014712-5u4e00q6 649 12 during during IN cord-014712-5u4e00q6 649 13 and and CC cord-014712-5u4e00q6 649 14 following follow VBG cord-014712-5u4e00q6 649 15 intravenous intravenous JJ cord-014712-5u4e00q6 649 16 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 649 17 ( ( -LRB- cord-014712-5u4e00q6 649 18 IVIG IVIG NNP cord-014712-5u4e00q6 649 19 ) ) -RRB- cord-014712-5u4e00q6 649 20 infusions infusion NNS cord-014712-5u4e00q6 649 21 at at IN cord-014712-5u4e00q6 649 22 Cairo Cairo NNP cord-014712-5u4e00q6 649 23 University University NNP cord-014712-5u4e00q6 649 24 Children Children NNP cord-014712-5u4e00q6 649 25 Hospitals Hospitals NNPS cord-014712-5u4e00q6 650 1 [ [ -LRB- cord-014712-5u4e00q6 650 2 Patients patient NNS cord-014712-5u4e00q6 650 3 were be VBD cord-014712-5u4e00q6 650 4 recruited recruit VBN cord-014712-5u4e00q6 650 5 at at IN cord-014712-5u4e00q6 650 6 Neonatal Neonatal NNP cord-014712-5u4e00q6 650 7 Intensive Intensive NNP cord-014712-5u4e00q6 650 8 Care Care NNP cord-014712-5u4e00q6 650 9 Units Units NNPS cord-014712-5u4e00q6 650 10 ( ( -LRB- cord-014712-5u4e00q6 650 11 NICU NICU NNP cord-014712-5u4e00q6 650 12 ) ) -RRB- cord-014712-5u4e00q6 650 13 , , , cord-014712-5u4e00q6 650 14 Pediatric Pediatric NNP cord-014712-5u4e00q6 650 15 Intensive Intensive NNP cord-014712-5u4e00q6 650 16 Care Care NNP cord-014712-5u4e00q6 650 17 Units Units NNPS cord-014712-5u4e00q6 650 18 ( ( -LRB- cord-014712-5u4e00q6 650 19 PICU PICU NNP cord-014712-5u4e00q6 650 20 ) ) -RRB- cord-014712-5u4e00q6 650 21 , , , cord-014712-5u4e00q6 650 22 general general JJ cord-014712-5u4e00q6 650 23 and and CC cord-014712-5u4e00q6 650 24 specialized specialized JJ cord-014712-5u4e00q6 650 25 inpatient inpatient JJ cord-014712-5u4e00q6 650 26 wards ward NNS cord-014712-5u4e00q6 650 27 ] ] -RRB- cord-014712-5u4e00q6 650 28 over over IN cord-014712-5u4e00q6 650 29 a a DT cord-014712-5u4e00q6 650 30 time time NN cord-014712-5u4e00q6 650 31 period period NN cord-014712-5u4e00q6 650 32 of of IN cord-014712-5u4e00q6 650 33 six six CD cord-014712-5u4e00q6 650 34 months month NNS cord-014712-5u4e00q6 650 35 , , , cord-014712-5u4e00q6 650 36 from from IN cord-014712-5u4e00q6 650 37 April April NNP cord-014712-5u4e00q6 650 38 through through IN cord-014712-5u4e00q6 650 39 September September NNP cord-014712-5u4e00q6 650 40 , , , cord-014712-5u4e00q6 650 41 2013 2013 CD cord-014712-5u4e00q6 650 42 . . . cord-014712-5u4e00q6 651 1 The the DT cord-014712-5u4e00q6 651 2 study study NN cord-014712-5u4e00q6 651 3 included include VBD cord-014712-5u4e00q6 651 4 62 62 CD cord-014712-5u4e00q6 651 5 transfusions transfusion NNS cord-014712-5u4e00q6 651 6 for for IN cord-014712-5u4e00q6 651 7 different different JJ cord-014712-5u4e00q6 651 8 disease disease NN cord-014712-5u4e00q6 651 9 conditions condition NNS cord-014712-5u4e00q6 651 10 in in IN cord-014712-5u4e00q6 651 11 55 55 CD cord-014712-5u4e00q6 651 12 patients patient NNS cord-014712-5u4e00q6 651 13 . . . cord-014712-5u4e00q6 652 1 Three three CD cord-014712-5u4e00q6 652 2 maltose maltose NN cord-014712-5u4e00q6 652 3 - - HYPH cord-014712-5u4e00q6 652 4 stabilized stabilize VBN cord-014712-5u4e00q6 652 5 intravenous intravenous JJ cord-014712-5u4e00q6 652 6 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 652 7 products product NNS cord-014712-5u4e00q6 652 8 were be VBD cord-014712-5u4e00q6 652 9 administered administer VBN cord-014712-5u4e00q6 652 10 to to IN cord-014712-5u4e00q6 652 11 patients patient NNS cord-014712-5u4e00q6 652 12 . . . cord-014712-5u4e00q6 653 1 Assessments assessment NNS cord-014712-5u4e00q6 653 2 were be VBD cord-014712-5u4e00q6 653 3 done do VBN cord-014712-5u4e00q6 653 4 before before RB cord-014712-5u4e00q6 653 5 , , , cord-014712-5u4e00q6 653 6 during during IN cord-014712-5u4e00q6 653 7 and and CC cord-014712-5u4e00q6 653 8 after after IN cord-014712-5u4e00q6 653 9 the the DT cord-014712-5u4e00q6 653 10 infusions infusion NNS cord-014712-5u4e00q6 653 11 . . . cord-014712-5u4e00q6 654 1 Results result NNS cord-014712-5u4e00q6 654 2 : : : cord-014712-5u4e00q6 655 1 There there EX cord-014712-5u4e00q6 655 2 were be VBD cord-014712-5u4e00q6 655 3 22 22 CD cord-014712-5u4e00q6 655 4 symptoms symptom NNS cord-014712-5u4e00q6 655 5 and and CC cord-014712-5u4e00q6 655 6 26 26 CD cord-014712-5u4e00q6 655 7 laboratory laboratory NN cord-014712-5u4e00q6 655 8 changes change NNS cord-014712-5u4e00q6 655 9 of of IN cord-014712-5u4e00q6 655 10 adverse adverse JJ cord-014712-5u4e00q6 655 11 events event NNS cord-014712-5u4e00q6 655 12 during during IN cord-014712-5u4e00q6 655 13 IVIG IVIG NNP cord-014712-5u4e00q6 655 14 transfusions transfusion NNS cord-014712-5u4e00q6 655 15 , , , cord-014712-5u4e00q6 655 16 with with IN cord-014712-5u4e00q6 655 17 some some DT cord-014712-5u4e00q6 655 18 patients patient NNS cord-014712-5u4e00q6 655 19 experiencing experience VBG cord-014712-5u4e00q6 655 20 more more JJR cord-014712-5u4e00q6 655 21 than than IN cord-014712-5u4e00q6 655 22 one one CD cord-014712-5u4e00q6 655 23 adverse adverse JJ cord-014712-5u4e00q6 655 24 reaction reaction NN cord-014712-5u4e00q6 655 25 . . . cord-014712-5u4e00q6 656 1 Adverse adverse JJ cord-014712-5u4e00q6 656 2 events event NNS cord-014712-5u4e00q6 656 3 were be VBD cord-014712-5u4e00q6 656 4 noted note VBN cord-014712-5u4e00q6 656 5 to to TO cord-014712-5u4e00q6 656 6 occur occur VB cord-014712-5u4e00q6 656 7 most most RBS cord-014712-5u4e00q6 656 8 frequently frequently RB cord-014712-5u4e00q6 656 9 within within IN cord-014712-5u4e00q6 656 10 1 1 CD cord-014712-5u4e00q6 656 11 to to IN cord-014712-5u4e00q6 656 12 6 6 CD cord-014712-5u4e00q6 656 13 h h NN cord-014712-5u4e00q6 656 14 from from IN cord-014712-5u4e00q6 656 15 onset onset NN cord-014712-5u4e00q6 656 16 of of IN cord-014712-5u4e00q6 656 17 IVIG IVIG NNP cord-014712-5u4e00q6 656 18 infusion infusion NN cord-014712-5u4e00q6 657 1 ( ( -LRB- cord-014712-5u4e00q6 657 2 n n NN cord-014712-5u4e00q6 657 3 = = SYM cord-014712-5u4e00q6 657 4 9 9 CD cord-014712-5u4e00q6 657 5 , , , cord-014712-5u4e00q6 657 6 39.1 39.1 CD cord-014712-5u4e00q6 657 7 % % NN cord-014712-5u4e00q6 657 8 ) ) -RRB- cord-014712-5u4e00q6 657 9 . . . cord-014712-5u4e00q6 658 1 First first JJ cord-014712-5u4e00q6 658 2 hour hour NN cord-014712-5u4e00q6 658 3 after after IN cord-014712-5u4e00q6 658 4 infusion infusion NN cord-014712-5u4e00q6 658 5 onset onset NN cord-014712-5u4e00q6 658 6 was be VBD cord-014712-5u4e00q6 658 7 the the DT cord-014712-5u4e00q6 658 8 most most RBS cord-014712-5u4e00q6 658 9 common common JJ cord-014712-5u4e00q6 658 10 timing timing NN cord-014712-5u4e00q6 658 11 for for IN cord-014712-5u4e00q6 658 12 symptoms symptom NNS cord-014712-5u4e00q6 658 13 of of IN cord-014712-5u4e00q6 658 14 adverse adverse JJ cord-014712-5u4e00q6 658 15 reactions reaction NNS cord-014712-5u4e00q6 658 16 ( ( -LRB- cord-014712-5u4e00q6 658 17 n n NN cord-014712-5u4e00q6 658 18 = = SYM cord-014712-5u4e00q6 658 19 5 5 CD cord-014712-5u4e00q6 658 20 , , , cord-014712-5u4e00q6 658 21 21.7 21.7 CD cord-014712-5u4e00q6 658 22 % % NN cord-014712-5u4e00q6 658 23 ) ) -RRB- cord-014712-5u4e00q6 658 24 . . . cord-014712-5u4e00q6 659 1 Patient patient JJ cord-014712-5u4e00q6 659 2 characteristics characteristic NNS cord-014712-5u4e00q6 659 3 of of IN cord-014712-5u4e00q6 659 4 those those DT cord-014712-5u4e00q6 659 5 with with IN cord-014712-5u4e00q6 659 6 adverse adverse JJ cord-014712-5u4e00q6 659 7 reactions reaction NNS cord-014712-5u4e00q6 659 8 : : : cord-014712-5u4e00q6 659 9 Adverse adverse JJ cord-014712-5u4e00q6 659 10 reactions reaction NNS cord-014712-5u4e00q6 659 11 occurred occur VBD cord-014712-5u4e00q6 659 12 in in IN cord-014712-5u4e00q6 659 13 37.1 37.1 CD cord-014712-5u4e00q6 659 14 % % NN cord-014712-5u4e00q6 659 15 of of IN cord-014712-5u4e00q6 659 16 the the DT cord-014712-5u4e00q6 659 17 infusions infusion NNS cord-014712-5u4e00q6 659 18 ( ( -LRB- cord-014712-5u4e00q6 659 19 n n NN cord-014712-5u4e00q6 659 20 = = SYM cord-014712-5u4e00q6 659 21 23 23 CD cord-014712-5u4e00q6 659 22 ) ) -RRB- cord-014712-5u4e00q6 659 23 with with IN cord-014712-5u4e00q6 659 24 the the DT cord-014712-5u4e00q6 659 25 majority majority NN cord-014712-5u4e00q6 659 26 belonging belong VBG cord-014712-5u4e00q6 659 27 to to IN cord-014712-5u4e00q6 659 28 the the DT cord-014712-5u4e00q6 659 29 6 6 CD cord-014712-5u4e00q6 659 30 - - SYM cord-014712-5u4e00q6 659 31 9 9 CD cord-014712-5u4e00q6 659 32 years year NNS cord-014712-5u4e00q6 659 33 old old JJ cord-014712-5u4e00q6 659 34 age age NN cord-014712-5u4e00q6 659 35 group group NN cord-014712-5u4e00q6 659 36 ( ( -LRB- cord-014712-5u4e00q6 659 37 n n NN cord-014712-5u4e00q6 659 38 = = SYM cord-014712-5u4e00q6 659 39 10 10 CD cord-014712-5u4e00q6 659 40 , , , cord-014712-5u4e00q6 659 41 43.5 43.5 CD cord-014712-5u4e00q6 659 42 % % NN cord-014712-5u4e00q6 659 43 ) ) -RRB- cord-014712-5u4e00q6 659 44 , , , cord-014712-5u4e00q6 659 45 with with IN cord-014712-5u4e00q6 659 46 variable variable JJ cord-014712-5u4e00q6 659 47 diagnostic diagnostic JJ cord-014712-5u4e00q6 659 48 categories category NNS cord-014712-5u4e00q6 659 49 . . . cord-014712-5u4e00q6 660 1 Ten ten CD cord-014712-5u4e00q6 660 2 patients patient NNS cord-014712-5u4e00q6 660 3 observed observe VBD cord-014712-5u4e00q6 660 4 during during IN cord-014712-5u4e00q6 660 5 14 14 CD cord-014712-5u4e00q6 660 6 infusions infusion NNS cord-014712-5u4e00q6 660 7 ( ( -LRB- cord-014712-5u4e00q6 660 8 60.9 60.9 CD cord-014712-5u4e00q6 660 9 % % NN cord-014712-5u4e00q6 660 10 ) ) -RRB- cord-014712-5u4e00q6 660 11 had have VBD cord-014712-5u4e00q6 660 12 one one CD cord-014712-5u4e00q6 660 13 or or CC cord-014712-5u4e00q6 660 14 more more JJR cord-014712-5u4e00q6 660 15 risk risk NN cord-014712-5u4e00q6 660 16 factors factor NNS cord-014712-5u4e00q6 660 17 for for IN cord-014712-5u4e00q6 660 18 complications complication NNS cord-014712-5u4e00q6 660 19 , , , cord-014712-5u4e00q6 660 20 while while IN cord-014712-5u4e00q6 660 21 6 6 CD cord-014712-5u4e00q6 660 22 patients patient NNS cord-014712-5u4e00q6 660 23 observed observe VBN cord-014712-5u4e00q6 660 24 during during IN cord-014712-5u4e00q6 660 25 9 9 CD cord-014712-5u4e00q6 660 26 infusions infusion NNS cord-014712-5u4e00q6 660 27 ( ( -LRB- cord-014712-5u4e00q6 660 28 39.1 39.1 CD cord-014712-5u4e00q6 660 29 % % NN cord-014712-5u4e00q6 660 30 ) ) -RRB- cord-014712-5u4e00q6 660 31 had have VBD cord-014712-5u4e00q6 660 32 no no DT cord-014712-5u4e00q6 660 33 risk risk NN cord-014712-5u4e00q6 660 34 factors factor NNS cord-014712-5u4e00q6 660 35 . . . cord-014712-5u4e00q6 661 1 The the DT cord-014712-5u4e00q6 661 2 commonest common JJS cord-014712-5u4e00q6 661 3 risk risk NN cord-014712-5u4e00q6 661 4 factor factor NN cord-014712-5u4e00q6 661 5 was be VBD cord-014712-5u4e00q6 661 6 administration administration NN cord-014712-5u4e00q6 661 7 of of IN cord-014712-5u4e00q6 661 8 nephrotoxic nephrotoxic NNP cord-014712-5u4e00q6 661 9 drugs drugs NNPS cord-014712-5u4e00q6 662 1 ( ( -LRB- cord-014712-5u4e00q6 662 2 n n NN cord-014712-5u4e00q6 662 3 = = SYM cord-014712-5u4e00q6 662 4 8 8 CD cord-014712-5u4e00q6 662 5 , , , cord-014712-5u4e00q6 662 6 34.7 34.7 CD cord-014712-5u4e00q6 662 7 % % NN cord-014712-5u4e00q6 662 8 ) ) -RRB- cord-014712-5u4e00q6 662 9 , , , cord-014712-5u4e00q6 662 10 followed follow VBN cord-014712-5u4e00q6 662 11 by by IN cord-014712-5u4e00q6 662 12 presence presence NN cord-014712-5u4e00q6 662 13 of of IN cord-014712-5u4e00q6 662 14 a a DT cord-014712-5u4e00q6 662 15 suspected suspect VBN cord-014712-5u4e00q6 662 16 autoimmune autoimmune JJ cord-014712-5u4e00q6 662 17 disorder disorder NN cord-014712-5u4e00q6 662 18 ( ( -LRB- cord-014712-5u4e00q6 662 19 n n NN cord-014712-5u4e00q6 662 20 = = SYM cord-014712-5u4e00q6 662 21 7 7 CD cord-014712-5u4e00q6 662 22 , , , cord-014712-5u4e00q6 662 23 30.4 30.4 CD cord-014712-5u4e00q6 662 24 % % NN cord-014712-5u4e00q6 662 25 ) ) -RRB- cord-014712-5u4e00q6 662 26 and and CC cord-014712-5u4e00q6 662 27 preexisting preexisting JJ cord-014712-5u4e00q6 662 28 renal renal JJ cord-014712-5u4e00q6 662 29 insufficiency insufficiency NN cord-014712-5u4e00q6 663 1 ( ( -LRB- cord-014712-5u4e00q6 663 2 n n NN cord-014712-5u4e00q6 663 3 = = SYM cord-014712-5u4e00q6 663 4 5 5 CD cord-014712-5u4e00q6 663 5 , , , cord-014712-5u4e00q6 663 6 21.7 21.7 CD cord-014712-5u4e00q6 663 7 % % NN cord-014712-5u4e00q6 663 8 ) ) -RRB- cord-014712-5u4e00q6 663 9 . . . cord-014712-5u4e00q6 664 1 Using use VBG cord-014712-5u4e00q6 664 2 regression regression NN cord-014712-5u4e00q6 664 3 analysis analysis NN cord-014712-5u4e00q6 664 4 , , , cord-014712-5u4e00q6 664 5 the the DT cord-014712-5u4e00q6 664 6 predicting predict VBG cord-014712-5u4e00q6 664 7 variables variable NNS cord-014712-5u4e00q6 664 8 for for IN cord-014712-5u4e00q6 664 9 each each DT cord-014712-5u4e00q6 664 10 complication complication NN cord-014712-5u4e00q6 664 11 were be VBD cord-014712-5u4e00q6 664 12 noted note VBN cord-014712-5u4e00q6 664 13 .For .For NFP cord-014712-5u4e00q6 664 14 example example NN cord-014712-5u4e00q6 664 15 , , , cord-014712-5u4e00q6 664 16 fever fever NN cord-014712-5u4e00q6 664 17 and and CC cord-014712-5u4e00q6 664 18 chills chill NNS cord-014712-5u4e00q6 664 19 were be VBD cord-014712-5u4e00q6 664 20 related relate VBN cord-014712-5u4e00q6 664 21 to to IN cord-014712-5u4e00q6 664 22 infusion infusion NN cord-014712-5u4e00q6 664 23 rate rate NN cord-014712-5u4e00q6 664 24 and and CC cord-014712-5u4e00q6 664 25 dose dose NN cord-014712-5u4e00q6 664 26 whereas whereas IN cord-014712-5u4e00q6 664 27 the the DT cord-014712-5u4e00q6 664 28 predicting predict VBG cord-014712-5u4e00q6 664 29 variables variable NNS cord-014712-5u4e00q6 664 30 for for IN cord-014712-5u4e00q6 664 31 pallor pallor NN cord-014712-5u4e00q6 664 32 were be VBD cord-014712-5u4e00q6 664 33 infusion infusion NN cord-014712-5u4e00q6 664 34 rate rate NN cord-014712-5u4e00q6 664 35 and and CC cord-014712-5u4e00q6 664 36 presence presence NN cord-014712-5u4e00q6 664 37 of of IN cord-014712-5u4e00q6 664 38 existing exist VBG cord-014712-5u4e00q6 664 39 risk risk NN cord-014712-5u4e00q6 664 40 factors factor NNS cord-014712-5u4e00q6 664 41 . . . cord-014712-5u4e00q6 665 1 Conclusions conclusion NNS cord-014712-5u4e00q6 665 2 : : : cord-014712-5u4e00q6 666 1 Clinicians clinician NNS cord-014712-5u4e00q6 666 2 should should MD cord-014712-5u4e00q6 666 3 be be VB cord-014712-5u4e00q6 666 4 aware aware JJ cord-014712-5u4e00q6 666 5 of of IN cord-014712-5u4e00q6 666 6 the the DT cord-014712-5u4e00q6 666 7 high high JJ cord-014712-5u4e00q6 666 8 need need NN cord-014712-5u4e00q6 666 9 for for IN cord-014712-5u4e00q6 666 10 special special JJ cord-014712-5u4e00q6 666 11 monitoring monitoring NN cord-014712-5u4e00q6 666 12 while while IN cord-014712-5u4e00q6 666 13 infusing infuse VBG cord-014712-5u4e00q6 666 14 IVIG IVIG NNP cord-014712-5u4e00q6 666 15 to to IN cord-014712-5u4e00q6 666 16 patients patient NNS cord-014712-5u4e00q6 666 17 with with IN cord-014712-5u4e00q6 666 18 primary primary JJ cord-014712-5u4e00q6 666 19 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 666 20 disorders disorder NNS cord-014712-5u4e00q6 666 21 , , , cord-014712-5u4e00q6 666 22 autoimmune autoimmune JJ cord-014712-5u4e00q6 666 23 hematological hematological JJ cord-014712-5u4e00q6 666 24 disorders disorder NNS cord-014712-5u4e00q6 666 25 and and CC cord-014712-5u4e00q6 666 26 sepsis sepsis NN cord-014712-5u4e00q6 666 27 . . . cord-014712-5u4e00q6 667 1 Certain certain JJ cord-014712-5u4e00q6 667 2 diagnosis diagnosis NN cord-014712-5u4e00q6 667 3 of of IN cord-014712-5u4e00q6 667 4 a a DT cord-014712-5u4e00q6 667 5 Primary primary JJ cord-014712-5u4e00q6 667 6 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 667 7 disorders disorder NNS cord-014712-5u4e00q6 667 8 ( ( -LRB- cord-014712-5u4e00q6 667 9 PID PID NNP cord-014712-5u4e00q6 667 10 ) ) -RRB- cord-014712-5u4e00q6 667 11 is be VBZ cord-014712-5u4e00q6 667 12 most most RBS cord-014712-5u4e00q6 667 13 confirmedly confirmedly RB cord-014712-5u4e00q6 667 14 performed perform VBN cord-014712-5u4e00q6 667 15 by by IN cord-014712-5u4e00q6 667 16 investigation investigation NN cord-014712-5u4e00q6 667 17 of of IN cord-014712-5u4e00q6 667 18 a a DT cord-014712-5u4e00q6 667 19 gene gene NN cord-014712-5u4e00q6 667 20 defect defect NN cord-014712-5u4e00q6 667 21 , , , cord-014712-5u4e00q6 667 22 allowing allow VBG cord-014712-5u4e00q6 667 23 genetic genetic JJ cord-014712-5u4e00q6 667 24 counseling counseling NN cord-014712-5u4e00q6 667 25 and and CC cord-014712-5u4e00q6 667 26 screening screening NN cord-014712-5u4e00q6 667 27 . . . cord-014712-5u4e00q6 668 1 Molecular molecular JJ cord-014712-5u4e00q6 668 2 diagnosis diagnosis NN cord-014712-5u4e00q6 668 3 helps help VBZ cord-014712-5u4e00q6 668 4 both both DT cord-014712-5u4e00q6 668 5 parents parent NNS cord-014712-5u4e00q6 668 6 and and CC cord-014712-5u4e00q6 668 7 index index NN cord-014712-5u4e00q6 668 8 PID pid NN cord-014712-5u4e00q6 668 9 patient patient NN cord-014712-5u4e00q6 668 10 by by IN cord-014712-5u4e00q6 668 11 carrier carrier NN cord-014712-5u4e00q6 668 12 detection detection NN cord-014712-5u4e00q6 668 13 and and CC cord-014712-5u4e00q6 668 14 pre pre JJ cord-014712-5u4e00q6 668 15 - - JJ cord-014712-5u4e00q6 668 16 implantation implantation JJ cord-014712-5u4e00q6 668 17 testing testing NN cord-014712-5u4e00q6 668 18 for for IN cord-014712-5u4e00q6 668 19 selecting select VBG cord-014712-5u4e00q6 668 20 appropriate appropriate JJ cord-014712-5u4e00q6 668 21 reproductive reproductive JJ cord-014712-5u4e00q6 668 22 decisions decision NNS cord-014712-5u4e00q6 668 23 . . . cord-014712-5u4e00q6 669 1 Furthermore furthermore RB cord-014712-5u4e00q6 669 2 , , , cord-014712-5u4e00q6 669 3 for for IN cord-014712-5u4e00q6 669 4 confirmation confirmation NN cord-014712-5u4e00q6 669 5 of of IN cord-014712-5u4e00q6 669 6 diagnosis diagnosis NN cord-014712-5u4e00q6 669 7 and and CC cord-014712-5u4e00q6 669 8 establishment establishment NN cord-014712-5u4e00q6 669 9 of of IN cord-014712-5u4e00q6 669 10 the the DT cord-014712-5u4e00q6 669 11 inheritance inheritance NN cord-014712-5u4e00q6 669 12 pattern pattern NN cord-014712-5u4e00q6 669 13 genetic genetic JJ cord-014712-5u4e00q6 669 14 analysis analysis NN cord-014712-5u4e00q6 669 15 is be VBZ cord-014712-5u4e00q6 669 16 necessary necessary JJ cord-014712-5u4e00q6 669 17 . . . cord-014712-5u4e00q6 670 1 This this DT cord-014712-5u4e00q6 670 2 survey survey NN cord-014712-5u4e00q6 670 3 in in IN cord-014712-5u4e00q6 670 4 all all DT cord-014712-5u4e00q6 670 5 PID PID NNP cord-014712-5u4e00q6 670 6 cohorts cohort NNS cord-014712-5u4e00q6 670 7 should should MD cord-014712-5u4e00q6 670 8 be be VB cord-014712-5u4e00q6 670 9 considered consider VBN cord-014712-5u4e00q6 670 10 for for IN cord-014712-5u4e00q6 670 11 long long JJ cord-014712-5u4e00q6 670 12 - - HYPH cord-014712-5u4e00q6 670 13 term term NN cord-014712-5u4e00q6 670 14 planning planning NN cord-014712-5u4e00q6 670 15 such such JJ cord-014712-5u4e00q6 670 16 as as IN cord-014712-5u4e00q6 670 17 bone bone NN cord-014712-5u4e00q6 670 18 marrow marrow NN cord-014712-5u4e00q6 670 19 transplantation transplantation NN cord-014712-5u4e00q6 670 20 of of IN cord-014712-5u4e00q6 670 21 a a DT cord-014712-5u4e00q6 670 22 PID PID NNP cord-014712-5u4e00q6 670 23 infant infant NN cord-014712-5u4e00q6 670 24 at at IN cord-014712-5u4e00q6 670 25 birth birth NN cord-014712-5u4e00q6 670 26 . . . cord-014712-5u4e00q6 671 1 The the DT cord-014712-5u4e00q6 671 2 result result NN cord-014712-5u4e00q6 671 3 of of IN cord-014712-5u4e00q6 671 4 this this DT cord-014712-5u4e00q6 671 5 testing testing NN cord-014712-5u4e00q6 671 6 also also RB cord-014712-5u4e00q6 671 7 is be VBZ cord-014712-5u4e00q6 671 8 important important JJ cord-014712-5u4e00q6 671 9 for for IN cord-014712-5u4e00q6 671 10 screening screening NN cord-014712-5u4e00q6 671 11 of of IN cord-014712-5u4e00q6 671 12 newborns newborn NNS cord-014712-5u4e00q6 671 13 and and CC cord-014712-5u4e00q6 671 14 for for IN cord-014712-5u4e00q6 671 15 those those DT cord-014712-5u4e00q6 671 16 in in IN cord-014712-5u4e00q6 671 17 specific specific JJ cord-014712-5u4e00q6 671 18 family family NN cord-014712-5u4e00q6 671 19 or or CC cord-014712-5u4e00q6 671 20 ethnic ethnic JJ cord-014712-5u4e00q6 671 21 groups group NNS cord-014712-5u4e00q6 671 22 . . . cord-014712-5u4e00q6 672 1 The the DT cord-014712-5u4e00q6 672 2 prevalence prevalence NN cord-014712-5u4e00q6 672 3 of of IN cord-014712-5u4e00q6 672 4 PIDs pid NNS cord-014712-5u4e00q6 672 5 has have VBZ cord-014712-5u4e00q6 672 6 been be VBN cord-014712-5u4e00q6 672 7 estimated estimate VBN cord-014712-5u4e00q6 672 8 to to TO cord-014712-5u4e00q6 672 9 be be VB cord-014712-5u4e00q6 672 10 more more JJR cord-014712-5u4e00q6 672 11 than than IN cord-014712-5u4e00q6 672 12 1/600 1/600 CD cord-014712-5u4e00q6 672 13 worldwide worldwide RB cord-014712-5u4e00q6 672 14 . . . cord-014712-5u4e00q6 673 1 Based base VBN cord-014712-5u4e00q6 673 2 on on IN cord-014712-5u4e00q6 673 3 the the DT cord-014712-5u4e00q6 673 4 total total JJ cord-014712-5u4e00q6 673 5 population population NN cord-014712-5u4e00q6 673 6 of of IN cord-014712-5u4e00q6 673 7 Iran Iran NNP cord-014712-5u4e00q6 673 8 reported report VBD cord-014712-5u4e00q6 673 9 in in IN cord-014712-5u4e00q6 673 10 2010 2010 CD cord-014712-5u4e00q6 673 11 ( ( -LRB- cord-014712-5u4e00q6 673 12 76,424,000 76,424,000 CD cord-014712-5u4e00q6 673 13 ) ) -RRB- cord-014712-5u4e00q6 673 14 , , , cord-014712-5u4e00q6 673 15 the the DT cord-014712-5u4e00q6 673 16 expected expect VBN cord-014712-5u4e00q6 673 17 prevalence prevalence NN cord-014712-5u4e00q6 673 18 of of IN cord-014712-5u4e00q6 673 19 PIDs pid NNS cord-014712-5u4e00q6 673 20 in in IN cord-014712-5u4e00q6 673 21 Iran Iran NNP cord-014712-5u4e00q6 673 22 would would MD cord-014712-5u4e00q6 673 23 be be VB cord-014712-5u4e00q6 673 24 more more JJR cord-014712-5u4e00q6 673 25 than than IN cord-014712-5u4e00q6 673 26 127,300 127,300 CD cord-014712-5u4e00q6 673 27 individuals individual NNS cord-014712-5u4e00q6 673 28 . . . cord-014712-5u4e00q6 674 1 However however RB cord-014712-5u4e00q6 674 2 , , , cord-014712-5u4e00q6 674 3 because because IN cord-014712-5u4e00q6 674 4 of of IN cord-014712-5u4e00q6 674 5 the the DT cord-014712-5u4e00q6 674 6 high high JJ cord-014712-5u4e00q6 674 7 rate rate NN cord-014712-5u4e00q6 674 8 of of IN cord-014712-5u4e00q6 674 9 consanguineous consanguineous JJ cord-014712-5u4e00q6 674 10 marriages marriage NNS cord-014712-5u4e00q6 674 11 in in IN cord-014712-5u4e00q6 674 12 Iran Iran NNP cord-014712-5u4e00q6 674 13 and and CC cord-014712-5u4e00q6 674 14 an an DT cord-014712-5u4e00q6 674 15 increased increase VBN cord-014712-5u4e00q6 674 16 risk risk NN cord-014712-5u4e00q6 674 17 for for IN cord-014712-5u4e00q6 674 18 development development NN cord-014712-5u4e00q6 674 19 of of IN cord-014712-5u4e00q6 674 20 disorders disorder NNS cord-014712-5u4e00q6 674 21 with with IN cord-014712-5u4e00q6 674 22 an an DT cord-014712-5u4e00q6 674 23 autosomal autosomal JJ cord-014712-5u4e00q6 674 24 recessive recessive JJ cord-014712-5u4e00q6 674 25 pattern pattern NN cord-014712-5u4e00q6 674 26 of of IN cord-014712-5u4e00q6 674 27 inheritance inheritance NN cord-014712-5u4e00q6 674 28 , , , cord-014712-5u4e00q6 674 29 this this DT cord-014712-5u4e00q6 674 30 prediction prediction NN cord-014712-5u4e00q6 674 31 is be VBZ cord-014712-5u4e00q6 674 32 likely likely JJ cord-014712-5u4e00q6 674 33 to to TO cord-014712-5u4e00q6 674 34 be be VB cord-014712-5u4e00q6 674 35 an an DT cord-014712-5u4e00q6 674 36 underestimation underestimation NN cord-014712-5u4e00q6 674 37 . . . cord-014712-5u4e00q6 675 1 To to IN cord-014712-5u4e00q6 675 2 date date NN cord-014712-5u4e00q6 675 3 , , , cord-014712-5u4e00q6 675 4 2247 2247 CD cord-014712-5u4e00q6 675 5 clinically clinically RB cord-014712-5u4e00q6 675 6 diagnosed diagnose VBN cord-014712-5u4e00q6 675 7 patients patient NNS cord-014712-5u4e00q6 675 8 of of IN cord-014712-5u4e00q6 675 9 PIDs pid NNS cord-014712-5u4e00q6 675 10 have have VBP cord-014712-5u4e00q6 675 11 been be VBN cord-014712-5u4e00q6 675 12 reported report VBN cord-014712-5u4e00q6 675 13 in in IN cord-014712-5u4e00q6 675 14 Iran Iran NNP cord-014712-5u4e00q6 675 15 , , , cord-014712-5u4e00q6 675 16 and and CC cord-014712-5u4e00q6 675 17 a a DT cord-014712-5u4e00q6 675 18 definite definite JJ cord-014712-5u4e00q6 675 19 diagnosis diagnosis NN cord-014712-5u4e00q6 675 20 , , , cord-014712-5u4e00q6 675 21 defined define VBN cord-014712-5u4e00q6 675 22 by by IN cord-014712-5u4e00q6 675 23 mutation mutation NN cord-014712-5u4e00q6 675 24 analysis analysis NN cord-014712-5u4e00q6 675 25 , , , cord-014712-5u4e00q6 675 26 was be VBD cord-014712-5u4e00q6 675 27 made make VBN cord-014712-5u4e00q6 675 28 in in IN cord-014712-5u4e00q6 675 29 790 790 CD cord-014712-5u4e00q6 675 30 individuals individual NNS cord-014712-5u4e00q6 675 31 . . . cord-014712-5u4e00q6 676 1 As as IN cord-014712-5u4e00q6 676 2 a a DT cord-014712-5u4e00q6 676 3 result result NN cord-014712-5u4e00q6 676 4 , , , cord-014712-5u4e00q6 676 5 1.76 1.76 CD cord-014712-5u4e00q6 676 6 % % NN cord-014712-5u4e00q6 676 7 of of IN cord-014712-5u4e00q6 676 8 the the DT cord-014712-5u4e00q6 676 9 expected expect VBN cord-014712-5u4e00q6 676 10 PID PID NNP cord-014712-5u4e00q6 676 11 patients patient NNS cord-014712-5u4e00q6 676 12 have have VBP cord-014712-5u4e00q6 676 13 been be VBN cord-014712-5u4e00q6 676 14 identified identify VBN cord-014712-5u4e00q6 676 15 , , , cord-014712-5u4e00q6 676 16 and and CC cord-014712-5u4e00q6 676 17 among among IN cord-014712-5u4e00q6 676 18 these these DT cord-014712-5u4e00q6 676 19 , , , cord-014712-5u4e00q6 676 20 35.2 35.2 CD cord-014712-5u4e00q6 676 21 % % NN cord-014712-5u4e00q6 676 22 have have VBP cord-014712-5u4e00q6 676 23 been be VBN cord-014712-5u4e00q6 676 24 diagnosed diagnose VBN cord-014712-5u4e00q6 676 25 at at IN cord-014712-5u4e00q6 676 26 a a DT cord-014712-5u4e00q6 676 27 molecular molecular JJ cord-014712-5u4e00q6 676 28 level level NN cord-014712-5u4e00q6 676 29 . . . cord-014712-5u4e00q6 677 1 The the DT cord-014712-5u4e00q6 677 2 proportion proportion NN cord-014712-5u4e00q6 677 3 of of IN cord-014712-5u4e00q6 677 4 genetically genetically RB cord-014712-5u4e00q6 677 5 definite definite JJ cord-014712-5u4e00q6 677 6 diagnosis diagnosis NN cord-014712-5u4e00q6 677 7 varied varied JJ cord-014712-5u4e00q6 677 8 between between IN cord-014712-5u4e00q6 677 9 84.5 84.5 CD cord-014712-5u4e00q6 677 10 and and CC cord-014712-5u4e00q6 677 11 0 0 CD cord-014712-5u4e00q6 677 12 % % NN cord-014712-5u4e00q6 677 13 in in IN cord-014712-5u4e00q6 677 14 the the DT cord-014712-5u4e00q6 677 15 different different JJ cord-014712-5u4e00q6 677 16 disease disease NN cord-014712-5u4e00q6 677 17 categories category NNS cord-014712-5u4e00q6 677 18 . . . cord-014712-5u4e00q6 678 1 This this DT cord-014712-5u4e00q6 678 2 wide wide JJ cord-014712-5u4e00q6 678 3 spectrum spectrum NN cord-014712-5u4e00q6 678 4 might may MD cord-014712-5u4e00q6 678 5 be be VB cord-014712-5u4e00q6 678 6 due due JJ cord-014712-5u4e00q6 678 7 to to IN cord-014712-5u4e00q6 678 8 unknown unknown JJ cord-014712-5u4e00q6 678 9 underlying underlying JJ cord-014712-5u4e00q6 678 10 genetic genetic JJ cord-014712-5u4e00q6 678 11 defects defect NNS cord-014712-5u4e00q6 678 12 or or CC cord-014712-5u4e00q6 678 13 modifying modify VBG cord-014712-5u4e00q6 678 14 genes gene NNS cord-014712-5u4e00q6 678 15 , , , cord-014712-5u4e00q6 678 16 especially especially RB cord-014712-5u4e00q6 678 17 in in IN cord-014712-5u4e00q6 678 18 patients patient NNS cord-014712-5u4e00q6 678 19 with with IN cord-014712-5u4e00q6 678 20 predominantly predominantly RB cord-014712-5u4e00q6 678 21 antibody antibody NN cord-014712-5u4e00q6 678 22 deficiency deficiency NN cord-014712-5u4e00q6 678 23 . . . cord-014712-5u4e00q6 679 1 On on IN cord-014712-5u4e00q6 679 2 the the DT cord-014712-5u4e00q6 679 3 other other JJ cord-014712-5u4e00q6 679 4 hand hand NN cord-014712-5u4e00q6 679 5 , , , cord-014712-5u4e00q6 679 6 the the DT cord-014712-5u4e00q6 679 7 latter latter JJ cord-014712-5u4e00q6 679 8 patients patient NNS cord-014712-5u4e00q6 679 9 also also RB cord-014712-5u4e00q6 679 10 had have VBD cord-014712-5u4e00q6 679 11 the the DT cord-014712-5u4e00q6 679 12 lowest low JJS cord-014712-5u4e00q6 679 13 percentage percentage NN cord-014712-5u4e00q6 679 14 of of IN cord-014712-5u4e00q6 679 15 clinically clinically RB cord-014712-5u4e00q6 679 16 diagnosed diagnose VBN cord-014712-5u4e00q6 679 17 cases case NNS cord-014712-5u4e00q6 679 18 . . . cord-014712-5u4e00q6 680 1 Croatia Croatia NNP cord-014712-5u4e00q6 680 2 is be VBZ cord-014712-5u4e00q6 680 3 a a DT cord-014712-5u4e00q6 680 4 small small JJ cord-014712-5u4e00q6 680 5 country country NN cord-014712-5u4e00q6 680 6 with with IN cord-014712-5u4e00q6 680 7 4 4 CD cord-014712-5u4e00q6 680 8 267 267 CD cord-014712-5u4e00q6 680 9 889 889 CD cord-014712-5u4e00q6 680 10 inhabitants inhabitant NNS cord-014712-5u4e00q6 680 11 . . . cord-014712-5u4e00q6 681 1 According accord VBG cord-014712-5u4e00q6 681 2 to to IN cord-014712-5u4e00q6 681 3 expected expect VBN cord-014712-5u4e00q6 681 4 prevalence prevalence NN cord-014712-5u4e00q6 681 5 of of IN cord-014712-5u4e00q6 681 6 PIDs pid NNS cord-014712-5u4e00q6 681 7 we -PRON- PRP cord-014712-5u4e00q6 681 8 expected expect VBD cord-014712-5u4e00q6 681 9 approximately approximately RB cord-014712-5u4e00q6 681 10 four four CD cord-014712-5u4e00q6 681 11 hundred hundred CD cord-014712-5u4e00q6 681 12 patients patient NNS cord-014712-5u4e00q6 681 13 with with IN cord-014712-5u4e00q6 681 14 PID PID NNP cord-014712-5u4e00q6 681 15 . . . cord-014712-5u4e00q6 682 1 For for IN cord-014712-5u4e00q6 682 2 the the DT cord-014712-5u4e00q6 682 3 past past JJ cord-014712-5u4e00q6 682 4 few few JJ cord-014712-5u4e00q6 682 5 years year NNS cord-014712-5u4e00q6 682 6 University University NNP cord-014712-5u4e00q6 682 7 Hospital Hospital NNP cord-014712-5u4e00q6 682 8 Center Center NNP cord-014712-5u4e00q6 682 9 Zagreb Zagreb NNP cord-014712-5u4e00q6 682 10 is be VBZ cord-014712-5u4e00q6 682 11 the the DT cord-014712-5u4e00q6 682 12 reporting reporting NN cord-014712-5u4e00q6 682 13 center center NN cord-014712-5u4e00q6 682 14 for for IN cord-014712-5u4e00q6 682 15 ESID ESID NNP cord-014712-5u4e00q6 682 16 registry registry NN cord-014712-5u4e00q6 682 17 . . . cord-014712-5u4e00q6 683 1 It -PRON- PRP cord-014712-5u4e00q6 683 2 is be VBZ cord-014712-5u4e00q6 683 3 also also RB cord-014712-5u4e00q6 683 4 the the DT cord-014712-5u4e00q6 683 5 national national JJ cord-014712-5u4e00q6 683 6 center center NN cord-014712-5u4e00q6 683 7 for for IN cord-014712-5u4e00q6 683 8 diagnosis diagnosis NN cord-014712-5u4e00q6 683 9 and and CC cord-014712-5u4e00q6 683 10 treatment treatment NN cord-014712-5u4e00q6 683 11 of of IN cord-014712-5u4e00q6 683 12 PIDs pid NNS cord-014712-5u4e00q6 683 13 , , , cord-014712-5u4e00q6 683 14 including include VBG cord-014712-5u4e00q6 683 15 haematopoietic haematopoietic JJ cord-014712-5u4e00q6 683 16 stem stem NN cord-014712-5u4e00q6 683 17 cell cell NN cord-014712-5u4e00q6 683 18 transplantation transplantation NN cord-014712-5u4e00q6 683 19 . . . cord-014712-5u4e00q6 684 1 Current current JJ cord-014712-5u4e00q6 684 2 PID pid NN cord-014712-5u4e00q6 684 3 database database NN cord-014712-5u4e00q6 684 4 is be VBZ cord-014712-5u4e00q6 684 5 running run VBG cord-014712-5u4e00q6 684 6 manually manually RB cord-014712-5u4e00q6 684 7 , , , cord-014712-5u4e00q6 684 8 with with IN cord-014712-5u4e00q6 684 9 the the DT cord-014712-5u4e00q6 684 10 exception exception NN cord-014712-5u4e00q6 684 11 of of IN cord-014712-5u4e00q6 684 12 patients patient NNS cord-014712-5u4e00q6 684 13 reported report VBN cord-014712-5u4e00q6 684 14 to to IN cord-014712-5u4e00q6 684 15 ESID ESID NNP cord-014712-5u4e00q6 684 16 registry registry NN cord-014712-5u4e00q6 684 17 . . . cord-014712-5u4e00q6 685 1 Most Most JJS cord-014712-5u4e00q6 685 2 of of IN cord-014712-5u4e00q6 685 3 them -PRON- PRP cord-014712-5u4e00q6 685 4 are be VBP cord-014712-5u4e00q6 685 5 of of IN cord-014712-5u4e00q6 685 6 pediatric pediatric JJ cord-014712-5u4e00q6 685 7 age age NN cord-014712-5u4e00q6 685 8 , , , cord-014712-5u4e00q6 685 9 reffered reffere VBN cord-014712-5u4e00q6 685 10 to to IN cord-014712-5u4e00q6 685 11 the the DT cord-014712-5u4e00q6 685 12 hospital hospital NN cord-014712-5u4e00q6 685 13 from from IN cord-014712-5u4e00q6 685 14 all all RB cord-014712-5u4e00q6 685 15 over over IN cord-014712-5u4e00q6 685 16 the the DT cord-014712-5u4e00q6 685 17 country country NN cord-014712-5u4e00q6 685 18 . . . cord-014712-5u4e00q6 686 1 The the DT cord-014712-5u4e00q6 686 2 PIDs pid NNS cord-014712-5u4e00q6 686 3 patients patient NNS cord-014712-5u4e00q6 686 4 are be VBP cord-014712-5u4e00q6 686 5 classified classify VBN cord-014712-5u4e00q6 686 6 according accord VBG cord-014712-5u4e00q6 686 7 to to IN cord-014712-5u4e00q6 686 8 international international JJ cord-014712-5u4e00q6 686 9 classification classification NN cord-014712-5u4e00q6 686 10 ( ( -LRB- cord-014712-5u4e00q6 686 11 IUIS IUIS NNP cord-014712-5u4e00q6 686 12 - - HYPH cord-014712-5u4e00q6 686 13 International International NNP cord-014712-5u4e00q6 686 14 Union Union NNP cord-014712-5u4e00q6 686 15 of of IN cord-014712-5u4e00q6 686 16 Immunological Immunological NNP cord-014712-5u4e00q6 686 17 Societies Societies NNPS cord-014712-5u4e00q6 686 18 ) ) -RRB- cord-014712-5u4e00q6 686 19 . . . cord-014712-5u4e00q6 687 1 There there EX cord-014712-5u4e00q6 687 2 are be VBP cord-014712-5u4e00q6 687 3 121 121 CD cord-014712-5u4e00q6 687 4 PIDs pid NNS cord-014712-5u4e00q6 687 5 patients patient NNS cord-014712-5u4e00q6 687 6 included include VBN cord-014712-5u4e00q6 687 7 in in IN cord-014712-5u4e00q6 687 8 the the DT cord-014712-5u4e00q6 687 9 database database NN cord-014712-5u4e00q6 687 10 at at IN cord-014712-5u4e00q6 687 11 the the DT cord-014712-5u4e00q6 687 12 moment moment NN cord-014712-5u4e00q6 687 13 . . . cord-014712-5u4e00q6 688 1 The the DT cord-014712-5u4e00q6 688 2 majority majority NN cord-014712-5u4e00q6 688 3 of of IN cord-014712-5u4e00q6 688 4 them -PRON- PRP cord-014712-5u4e00q6 688 5 have have VBP cord-014712-5u4e00q6 688 6 antibody antibody NN cord-014712-5u4e00q6 688 7 deficiency deficiency NN cord-014712-5u4e00q6 688 8 . . . cord-014712-5u4e00q6 689 1 Combined combine VBN cord-014712-5u4e00q6 689 2 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 689 3 and and CC cord-014712-5u4e00q6 689 4 well well RB cord-014712-5u4e00q6 689 5 defined define VBN cord-014712-5u4e00q6 689 6 syndromes syndrome NNS cord-014712-5u4e00q6 689 7 appear appear VBP cord-014712-5u4e00q6 689 8 in in IN cord-014712-5u4e00q6 689 9 equal equal JJ cord-014712-5u4e00q6 689 10 distribution distribution NN cord-014712-5u4e00q6 689 11 . . . cord-014712-5u4e00q6 690 1 Other other JJ cord-014712-5u4e00q6 690 2 types type NNS cord-014712-5u4e00q6 690 3 of of IN cord-014712-5u4e00q6 690 4 PIDs pid NNS cord-014712-5u4e00q6 690 5 are be VBP cord-014712-5u4e00q6 690 6 reported report VBN cord-014712-5u4e00q6 690 7 in in IN cord-014712-5u4e00q6 690 8 small small JJ cord-014712-5u4e00q6 690 9 numbers number NNS cord-014712-5u4e00q6 690 10 . . . cord-014712-5u4e00q6 691 1 Although although IN cord-014712-5u4e00q6 691 2 no no DT cord-014712-5u4e00q6 691 3 consanguinity consanguinity NN cord-014712-5u4e00q6 691 4 was be VBD cord-014712-5u4e00q6 691 5 reported report VBN cord-014712-5u4e00q6 691 6 , , , cord-014712-5u4e00q6 691 7 we -PRON- PRP cord-014712-5u4e00q6 691 8 noticed notice VBD cord-014712-5u4e00q6 691 9 the the DT cord-014712-5u4e00q6 691 10 geografic geografic JJ cord-014712-5u4e00q6 691 11 distribution distribution NN cord-014712-5u4e00q6 691 12 of of IN cord-014712-5u4e00q6 691 13 severe severe JJ cord-014712-5u4e00q6 691 14 combined combine VBN cord-014712-5u4e00q6 691 15 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 691 16 patients patient NNS cord-014712-5u4e00q6 691 17 ( ( -LRB- cord-014712-5u4e00q6 691 18 SCID SCID NNP cord-014712-5u4e00q6 691 19 ) ) -RRB- cord-014712-5u4e00q6 691 20 mostly mostly RB cord-014712-5u4e00q6 691 21 in in IN cord-014712-5u4e00q6 691 22 2 2 CD cord-014712-5u4e00q6 691 23 regions region NNS cord-014712-5u4e00q6 691 24 , , , cord-014712-5u4e00q6 691 25 Istra Istra NNP cord-014712-5u4e00q6 691 26 and and CC cord-014712-5u4e00q6 691 27 Podravina Podravina NNP cord-014712-5u4e00q6 691 28 . . . cord-014712-5u4e00q6 692 1 It -PRON- PRP cord-014712-5u4e00q6 692 2 can can MD cord-014712-5u4e00q6 692 3 be be VB cord-014712-5u4e00q6 692 4 explained explain VBN cord-014712-5u4e00q6 692 5 with with IN cord-014712-5u4e00q6 692 6 genetic genetic JJ cord-014712-5u4e00q6 692 7 isolation isolation NN cord-014712-5u4e00q6 692 8 . . . cord-014712-5u4e00q6 693 1 The the DT cord-014712-5u4e00q6 693 2 establishment establishment NN cord-014712-5u4e00q6 693 3 of of IN cord-014712-5u4e00q6 693 4 National National NNP cord-014712-5u4e00q6 693 5 Online Online NNP cord-014712-5u4e00q6 693 6 PID PID NNP cord-014712-5u4e00q6 693 7 registry registry NN cord-014712-5u4e00q6 693 8 is be VBZ cord-014712-5u4e00q6 693 9 in in IN cord-014712-5u4e00q6 693 10 process process NN cord-014712-5u4e00q6 693 11 . . . cord-014712-5u4e00q6 694 1 The the DT cord-014712-5u4e00q6 694 2 aim aim NN cord-014712-5u4e00q6 694 3 is be VBZ cord-014712-5u4e00q6 694 4 to to TO cord-014712-5u4e00q6 694 5 improve improve VB cord-014712-5u4e00q6 694 6 the the DT cord-014712-5u4e00q6 694 7 diagnosis diagnosis NN cord-014712-5u4e00q6 694 8 od od NN cord-014712-5u4e00q6 694 9 PID PID NNP cord-014712-5u4e00q6 694 10 specially specially RB cord-014712-5u4e00q6 694 11 in in IN cord-014712-5u4e00q6 694 12 adult adult NN cord-014712-5u4e00q6 694 13 patients patient NNS cord-014712-5u4e00q6 694 14 , , , cord-014712-5u4e00q6 694 15 who who WP cord-014712-5u4e00q6 694 16 are be VBP cord-014712-5u4e00q6 694 17 not not RB cord-014712-5u4e00q6 694 18 included include VBN cord-014712-5u4e00q6 694 19 in in IN cord-014712-5u4e00q6 694 20 present present JJ cord-014712-5u4e00q6 694 21 database database NN cord-014712-5u4e00q6 694 22 , , , cord-014712-5u4e00q6 694 23 with with IN cord-014712-5u4e00q6 694 24 exception exception NN cord-014712-5u4e00q6 694 25 of of IN cord-014712-5u4e00q6 694 26 the the DT cord-014712-5u4e00q6 694 27 patients patient NNS cord-014712-5u4e00q6 694 28 diagnosed diagnose VBN cord-014712-5u4e00q6 694 29 in in IN cord-014712-5u4e00q6 694 30 childhood childhood NN cord-014712-5u4e00q6 694 31 . . . cord-014712-5u4e00q6 695 1 Primary primary JJ cord-014712-5u4e00q6 695 2 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 695 3 disorders disorder NNS cord-014712-5u4e00q6 695 4 are be VBP cord-014712-5u4e00q6 695 5 underdiagnosed underdiagnosed JJ cord-014712-5u4e00q6 695 6 in in IN cord-014712-5u4e00q6 695 7 Croatia Croatia NNP cord-014712-5u4e00q6 695 8 , , , cord-014712-5u4e00q6 695 9 specially specially RB cord-014712-5u4e00q6 695 10 in in IN cord-014712-5u4e00q6 695 11 adults adult NNS cord-014712-5u4e00q6 695 12 . . . cord-014712-5u4e00q6 696 1 Establishing establish VBG cord-014712-5u4e00q6 696 2 National national JJ cord-014712-5u4e00q6 696 3 PID PID NNP cord-014712-5u4e00q6 696 4 registry registry NN cord-014712-5u4e00q6 696 5 will will MD cord-014712-5u4e00q6 696 6 improve improve VB cord-014712-5u4e00q6 696 7 the the DT cord-014712-5u4e00q6 696 8 physicians physician NNS cord-014712-5u4e00q6 696 9 awareness awareness NN cord-014712-5u4e00q6 696 10 of of IN cord-014712-5u4e00q6 696 11 PIDs pid NNS cord-014712-5u4e00q6 696 12 , , , cord-014712-5u4e00q6 696 13 which which WDT cord-014712-5u4e00q6 696 14 is be VBZ cord-014712-5u4e00q6 696 15 particularly particularly RB cord-014712-5u4e00q6 696 16 important important JJ cord-014712-5u4e00q6 696 17 for for IN cord-014712-5u4e00q6 696 18 adult adult NN cord-014712-5u4e00q6 696 19 patients patient NNS cord-014712-5u4e00q6 696 20 . . . cord-014712-5u4e00q6 697 1 We -PRON- PRP cord-014712-5u4e00q6 697 2 expected expect VBD cord-014712-5u4e00q6 697 3 the the DT cord-014712-5u4e00q6 697 4 number number NN cord-014712-5u4e00q6 697 5 of of IN cord-014712-5u4e00q6 697 6 diagnosed diagnose VBN cord-014712-5u4e00q6 697 7 PID PID NNP cord-014712-5u4e00q6 697 8 patients patient NNS cord-014712-5u4e00q6 697 9 will will MD cord-014712-5u4e00q6 697 10 rise rise VB cord-014712-5u4e00q6 697 11 . . . cord-014712-5u4e00q6 698 1 This this DT cord-014712-5u4e00q6 698 2 will will MD cord-014712-5u4e00q6 698 3 give give VB cord-014712-5u4e00q6 698 4 the the DT cord-014712-5u4e00q6 698 5 opportunity opportunity NN cord-014712-5u4e00q6 698 6 to to TO cord-014712-5u4e00q6 698 7 make make VB cord-014712-5u4e00q6 698 8 progress progress NN cord-014712-5u4e00q6 698 9 in in IN cord-014712-5u4e00q6 698 10 diagnosis diagnosis NN cord-014712-5u4e00q6 698 11 and and CC cord-014712-5u4e00q6 698 12 treatment treatment NN cord-014712-5u4e00q6 698 13 , , , cord-014712-5u4e00q6 698 14 and and CC cord-014712-5u4e00q6 698 15 the the DT cord-014712-5u4e00q6 698 16 opportunity opportunity NN cord-014712-5u4e00q6 698 17 for for IN cord-014712-5u4e00q6 698 18 further further JJ cord-014712-5u4e00q6 698 19 epidemiological epidemiological JJ cord-014712-5u4e00q6 698 20 and and CC cord-014712-5u4e00q6 698 21 clinical clinical JJ cord-014712-5u4e00q6 698 22 studies study NNS cord-014712-5u4e00q6 698 23 . . . cord-014712-5u4e00q6 699 1 Another another DT cord-014712-5u4e00q6 699 2 25 25 CD cord-014712-5u4e00q6 699 3 patients patient NNS cord-014712-5u4e00q6 699 4 have have VBP cord-014712-5u4e00q6 699 5 well well RB cord-014712-5u4e00q6 699 6 defined define VBN cord-014712-5u4e00q6 699 7 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 699 8 syndromes syndrome NNS cord-014712-5u4e00q6 699 9 from from IN cord-014712-5u4e00q6 699 10 which which WDT cord-014712-5u4e00q6 699 11 : : : cord-014712-5u4e00q6 699 12 11 11 CD cord-014712-5u4e00q6 699 13 are be VBP cord-014712-5u4e00q6 699 14 with with IN cord-014712-5u4e00q6 699 15 Di Di NNP cord-014712-5u4e00q6 699 16 George George NNP cord-014712-5u4e00q6 699 17 anomaly anomaly NN cord-014712-5u4e00q6 699 18 ; ; : cord-014712-5u4e00q6 699 19 2 2 CD cord-014712-5u4e00q6 699 20 with with IN cord-014712-5u4e00q6 699 21 Wiskott Wiskott NNP cord-014712-5u4e00q6 699 22 - - HYPH cord-014712-5u4e00q6 699 23 Aldrich Aldrich NNP cord-014712-5u4e00q6 699 24 syndrome syndrome NN cord-014712-5u4e00q6 699 25 ; ; : cord-014712-5u4e00q6 699 26 4 4 CD cord-014712-5u4e00q6 699 27 with with IN cord-014712-5u4e00q6 699 28 ataxia ataxia NN cord-014712-5u4e00q6 699 29 - - HYPH cord-014712-5u4e00q6 699 30 teleangiectasia teleangiectasia NN cord-014712-5u4e00q6 699 31 ; ; : cord-014712-5u4e00q6 699 32 4 4 CD cord-014712-5u4e00q6 699 33 with with IN cord-014712-5u4e00q6 699 34 Hyper Hyper NNP cord-014712-5u4e00q6 699 35 IgE IgE NNP cord-014712-5u4e00q6 699 36 Syndrome Syndrome NNP cord-014712-5u4e00q6 699 37 ; ; : cord-014712-5u4e00q6 699 38 1 1 CD cord-014712-5u4e00q6 699 39 with with IN cord-014712-5u4e00q6 699 40 Schimke Schimke NNP cord-014712-5u4e00q6 699 41 Syndrome Syndrome NNP cord-014712-5u4e00q6 699 42 and and CC cord-014712-5u4e00q6 699 43 3 3 CD cord-014712-5u4e00q6 699 44 are be VBP cord-014712-5u4e00q6 699 45 with with IN cord-014712-5u4e00q6 699 46 Nijmegen Nijmegen NNP cord-014712-5u4e00q6 699 47 Breakage Breakage NNP cord-014712-5u4e00q6 699 48 Syndrome Syndrome NNP cord-014712-5u4e00q6 699 49 . . . cord-014712-5u4e00q6 700 1 In in IN cord-014712-5u4e00q6 700 2 early early JJ cord-014712-5u4e00q6 700 3 nineties ninety NNS cord-014712-5u4e00q6 700 4 , , , cord-014712-5u4e00q6 700 5 two two CD cord-014712-5u4e00q6 700 6 ( ( -LRB- cord-014712-5u4e00q6 700 7 2 2 CD cord-014712-5u4e00q6 700 8 ) ) -RRB- cord-014712-5u4e00q6 700 9 of of IN cord-014712-5u4e00q6 700 10 our -PRON- PRP$ cord-014712-5u4e00q6 700 11 patients patient NNS cord-014712-5u4e00q6 700 12 had have VBD cord-014712-5u4e00q6 700 13 chronic chronic JJ cord-014712-5u4e00q6 700 14 mucocutaneus mucocutaneus NN cord-014712-5u4e00q6 700 15 candidiasis candidiasis NN cord-014712-5u4e00q6 700 16 . . . cord-014712-5u4e00q6 701 1 3 3 CD cord-014712-5u4e00q6 701 2 patients patient NNS cord-014712-5u4e00q6 701 3 are be VBP cord-014712-5u4e00q6 701 4 registered register VBN cord-014712-5u4e00q6 701 5 as as IN cord-014712-5u4e00q6 701 6 X X NNS cord-014712-5u4e00q6 701 7 - - HYPH cord-014712-5u4e00q6 701 8 linked link VBN cord-014712-5u4e00q6 701 9 SCID SCID NNP cord-014712-5u4e00q6 701 10 and and CC cord-014712-5u4e00q6 701 11 1 1 CD cord-014712-5u4e00q6 701 12 with with IN cord-014712-5u4e00q6 701 13 Xlinked Xlinked NNP cord-014712-5u4e00q6 701 14 lymphoproliferative lymphoproliferative JJ cord-014712-5u4e00q6 701 15 syndrome syndrome NN cord-014712-5u4e00q6 701 16 ( ( -LRB- cord-014712-5u4e00q6 701 17 XLP XLP NNP cord-014712-5u4e00q6 701 18 ) ) -RRB- cord-014712-5u4e00q6 701 19 . . . cord-014712-5u4e00q6 702 1 1 1 CD cord-014712-5u4e00q6 702 2 patient patient NN cord-014712-5u4e00q6 702 3 has have VBZ cord-014712-5u4e00q6 702 4 chronic chronic JJ cord-014712-5u4e00q6 702 5 granulomatous granulomatous JJ cord-014712-5u4e00q6 702 6 disease disease NN cord-014712-5u4e00q6 702 7 ; ; : cord-014712-5u4e00q6 702 8 3 3 CD cord-014712-5u4e00q6 702 9 have have VBP cord-014712-5u4e00q6 702 10 severe severe JJ cord-014712-5u4e00q6 702 11 congenital congenital JJ cord-014712-5u4e00q6 702 12 neutropenia neutropenia NN cord-014712-5u4e00q6 702 13 and and CC cord-014712-5u4e00q6 702 14 5 5 CD cord-014712-5u4e00q6 702 15 have have VBP cord-014712-5u4e00q6 702 16 hereditary hereditary JJ cord-014712-5u4e00q6 702 17 angioedema angioedema NN cord-014712-5u4e00q6 702 18 . . . cord-014712-5u4e00q6 703 1 2 2 CD cord-014712-5u4e00q6 703 2 patients patient NNS cord-014712-5u4e00q6 703 3 are be VBP cord-014712-5u4e00q6 703 4 with with IN cord-014712-5u4e00q6 703 5 WHIM WHIM NNP cord-014712-5u4e00q6 703 6 Syndrome Syndrome NNP cord-014712-5u4e00q6 703 7 . . . cord-014712-5u4e00q6 704 1 6 6 CD cord-014712-5u4e00q6 704 2 patients patient NNS cord-014712-5u4e00q6 704 3 are be VBP cord-014712-5u4e00q6 704 4 with with IN cord-014712-5u4e00q6 704 5 anti anti JJ cord-014712-5u4e00q6 704 6 - - JJ cord-014712-5u4e00q6 704 7 inflammatory inflammatory JJ cord-014712-5u4e00q6 704 8 disorders disorder NNS cord-014712-5u4e00q6 704 9 : : : cord-014712-5u4e00q6 704 10 1 1 CD cord-014712-5u4e00q6 704 11 has have VBZ cord-014712-5u4e00q6 704 12 Hyper hyper JJ cord-014712-5u4e00q6 704 13 Ig Ig NNP cord-014712-5u4e00q6 704 14 D D NNP cord-014712-5u4e00q6 704 15 Syndrome syndrome NN cord-014712-5u4e00q6 704 16 ( ( -LRB- cord-014712-5u4e00q6 704 17 HIDS HIDS NNP cord-014712-5u4e00q6 704 18 ) ) -RRB- cord-014712-5u4e00q6 704 19 and and CC cord-014712-5u4e00q6 704 20 5 5 CD cord-014712-5u4e00q6 704 21 have have VBP cord-014712-5u4e00q6 704 22 Familial familial JJ cord-014712-5u4e00q6 704 23 Mediterranean Mediterranean NNP cord-014712-5u4e00q6 704 24 Fever Fever NNP cord-014712-5u4e00q6 704 25 . . . cord-014712-5u4e00q6 705 1 The the DT cord-014712-5u4e00q6 705 2 J J NNP cord-014712-5u4e00q6 705 3 - - HYPH cord-014712-5u4e00q6 705 4 project project NN cord-014712-5u4e00q6 705 5 realization realization NN cord-014712-5u4e00q6 705 6 in in IN cord-014712-5u4e00q6 705 7 the the DT cord-014712-5u4e00q6 705 8 Republic Republic NNP cord-014712-5u4e00q6 705 9 of of IN cord-014712-5u4e00q6 705 10 Kazakhstan Kazakhstan NNP cord-014712-5u4e00q6 705 11 allows allow VBZ cord-014712-5u4e00q6 705 12 to to TO cord-014712-5u4e00q6 705 13 update update VB cord-014712-5u4e00q6 705 14 the the DT cord-014712-5u4e00q6 705 15 PID PID NNP cord-014712-5u4e00q6 705 16 problem problem NN cord-014712-5u4e00q6 705 17 , , , cord-014712-5u4e00q6 705 18 to to TO cord-014712-5u4e00q6 705 19 raise raise VB cord-014712-5u4e00q6 705 20 the the DT cord-014712-5u4e00q6 705 21 availability availability NN cord-014712-5u4e00q6 705 22 of of IN cord-014712-5u4e00q6 705 23 early early JJ cord-014712-5u4e00q6 705 24 diagnosis diagnosis NN cord-014712-5u4e00q6 705 25 of of IN cord-014712-5u4e00q6 705 26 PID PID NNP cord-014712-5u4e00q6 705 27 , , , cord-014712-5u4e00q6 705 28 to to TO cord-014712-5u4e00q6 705 29 improve improve VB cord-014712-5u4e00q6 705 30 the the DT cord-014712-5u4e00q6 705 31 life life NN cord-014712-5u4e00q6 705 32 quality quality NN cord-014712-5u4e00q6 705 33 of of IN cord-014712-5u4e00q6 705 34 patients patient NNS cord-014712-5u4e00q6 705 35 with with IN cord-014712-5u4e00q6 705 36 PID PID NNP cord-014712-5u4e00q6 705 37 by by IN cord-014712-5u4e00q6 705 38 providing provide VBG cord-014712-5u4e00q6 705 39 substitution substitution NN cord-014712-5u4e00q6 705 40 therapy therapy NN cord-014712-5u4e00q6 705 41 and and CC cord-014712-5u4e00q6 705 42 as as IN cord-014712-5u4e00q6 705 43 a a DT cord-014712-5u4e00q6 705 44 result result NN cord-014712-5u4e00q6 705 45 , , , cord-014712-5u4e00q6 705 46 the the DT cord-014712-5u4e00q6 705 47 infant infant NN cord-014712-5u4e00q6 705 48 mortality mortality NN cord-014712-5u4e00q6 705 49 and and CC cord-014712-5u4e00q6 705 50 disability disability NN cord-014712-5u4e00q6 705 51 rate rate NN cord-014712-5u4e00q6 705 52 has have VBZ cord-014712-5u4e00q6 705 53 been be VBN cord-014712-5u4e00q6 705 54 reduced reduce VBN cord-014712-5u4e00q6 705 55 . . . cord-014712-5u4e00q6 706 1 Common common JJ cord-014712-5u4e00q6 706 2 variable variable JJ cord-014712-5u4e00q6 706 3 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 706 4 ( ( -LRB- cord-014712-5u4e00q6 706 5 CVID CVID NNP cord-014712-5u4e00q6 706 6 ) ) -RRB- cord-014712-5u4e00q6 706 7 is be VBZ cord-014712-5u4e00q6 706 8 the the DT cord-014712-5u4e00q6 706 9 most most RBS cord-014712-5u4e00q6 706 10 common common JJ cord-014712-5u4e00q6 706 11 primary primary JJ cord-014712-5u4e00q6 706 12 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 706 13 ( ( -LRB- cord-014712-5u4e00q6 706 14 PID PID NNP cord-014712-5u4e00q6 706 15 ) ) -RRB- cord-014712-5u4e00q6 706 16 characterised characterise VBN cord-014712-5u4e00q6 706 17 by by IN cord-014712-5u4e00q6 706 18 impaired impair VBN cord-014712-5u4e00q6 706 19 immunglobulin immunglobulin NN cord-014712-5u4e00q6 706 20 production production NN cord-014712-5u4e00q6 706 21 and and CC cord-014712-5u4e00q6 706 22 immune immune JJ cord-014712-5u4e00q6 706 23 dysregulation dysregulation NN cord-014712-5u4e00q6 706 24 . . . cord-014712-5u4e00q6 707 1 Chronic chronic JJ cord-014712-5u4e00q6 707 2 and and CC cord-014712-5u4e00q6 707 3 recurrent recurrent JJ cord-014712-5u4e00q6 707 4 infections infection NNS cord-014712-5u4e00q6 707 5 and and CC cord-014712-5u4e00q6 707 6 its -PRON- PRP$ cord-014712-5u4e00q6 707 7 results result NNS cord-014712-5u4e00q6 707 8 are be VBP cord-014712-5u4e00q6 707 9 typical typical JJ cord-014712-5u4e00q6 707 10 manifestation manifestation NN cord-014712-5u4e00q6 707 11 of of IN cord-014712-5u4e00q6 707 12 this this DT cord-014712-5u4e00q6 707 13 disease disease NN cord-014712-5u4e00q6 707 14 . . . cord-014712-5u4e00q6 708 1 In in IN cord-014712-5u4e00q6 708 2 addition addition NN cord-014712-5u4e00q6 708 3 there there EX cord-014712-5u4e00q6 708 4 is be VBZ cord-014712-5u4e00q6 708 5 a a DT cord-014712-5u4e00q6 708 6 higher high JJR cord-014712-5u4e00q6 708 7 risk risk NN cord-014712-5u4e00q6 708 8 of of IN cord-014712-5u4e00q6 708 9 autoimmune autoimmune JJ cord-014712-5u4e00q6 708 10 disorders disorder NNS cord-014712-5u4e00q6 708 11 , , , cord-014712-5u4e00q6 708 12 lymphoproliferative lymphoproliferative JJ cord-014712-5u4e00q6 708 13 or or CC cord-014712-5u4e00q6 708 14 granulomatous granulomatous JJ cord-014712-5u4e00q6 708 15 diseases disease NNS cord-014712-5u4e00q6 708 16 and and CC cord-014712-5u4e00q6 708 17 malignancies malignancy NNS cord-014712-5u4e00q6 708 18 . . . cord-014712-5u4e00q6 709 1 Successful successful JJ cord-014712-5u4e00q6 709 2 management management NN cord-014712-5u4e00q6 709 3 of of IN cord-014712-5u4e00q6 709 4 CVID CVID NNP cord-014712-5u4e00q6 709 5 patients patient NNS cord-014712-5u4e00q6 709 6 is be VBZ cord-014712-5u4e00q6 709 7 based base VBN cord-014712-5u4e00q6 709 8 on on IN cord-014712-5u4e00q6 709 9 prevention prevention NN cord-014712-5u4e00q6 709 10 and and CC cord-014712-5u4e00q6 709 11 consistent consistent JJ cord-014712-5u4e00q6 709 12 therapy therapy NN cord-014712-5u4e00q6 709 13 of of IN cord-014712-5u4e00q6 709 14 infections infection NNS cord-014712-5u4e00q6 709 15 with with IN cord-014712-5u4e00q6 709 16 sufficient sufficient JJ cord-014712-5u4e00q6 709 17 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 709 18 replacement replacement NN cord-014712-5u4e00q6 709 19 and/or and/or CC cord-014712-5u4e00q6 709 20 antibiotics antibiotic NNS cord-014712-5u4e00q6 709 21 , , , cord-014712-5u4e00q6 709 22 prevention prevention NN cord-014712-5u4e00q6 709 23 and and CC cord-014712-5u4e00q6 709 24 active active JJ cord-014712-5u4e00q6 709 25 screening screening NN cord-014712-5u4e00q6 709 26 of of IN cord-014712-5u4e00q6 709 27 CVID CVID NNP cord-014712-5u4e00q6 709 28 related relate VBN cord-014712-5u4e00q6 709 29 complications complication NNS cord-014712-5u4e00q6 709 30 . . . cord-014712-5u4e00q6 710 1 In in IN cord-014712-5u4e00q6 710 2 our -PRON- PRP$ cord-014712-5u4e00q6 710 3 study study NN cord-014712-5u4e00q6 710 4 we -PRON- PRP cord-014712-5u4e00q6 710 5 analysed analyse VBD cord-014712-5u4e00q6 710 6 data datum NNS cord-014712-5u4e00q6 710 7 of of IN cord-014712-5u4e00q6 710 8 41 41 CD cord-014712-5u4e00q6 710 9 patients patient NNS cord-014712-5u4e00q6 710 10 gained gain VBN cord-014712-5u4e00q6 710 11 from from IN cord-014712-5u4e00q6 710 12 medical medical JJ cord-014712-5u4e00q6 710 13 records record NNS cord-014712-5u4e00q6 710 14 . . . cord-014712-5u4e00q6 711 1 These these DT cord-014712-5u4e00q6 711 2 data datum NNS cord-014712-5u4e00q6 711 3 were be VBD cord-014712-5u4e00q6 711 4 also also RB cord-014712-5u4e00q6 711 5 input input NN cord-014712-5u4e00q6 711 6 into into IN cord-014712-5u4e00q6 711 7 Czech czech JJ cord-014712-5u4e00q6 711 8 PID PID NNP cord-014712-5u4e00q6 711 9 Registry Registry NNP cord-014712-5u4e00q6 711 10 and and CC cord-014712-5u4e00q6 711 11 PID PID NNP cord-014712-5u4e00q6 711 12 Registry Registry NNP cord-014712-5u4e00q6 711 13 organized organize VBN cord-014712-5u4e00q6 711 14 by by IN cord-014712-5u4e00q6 711 15 ESID ESID NNP cord-014712-5u4e00q6 711 16 ( ( -LRB- cord-014712-5u4e00q6 711 17 European European NNP cord-014712-5u4e00q6 711 18 Organisation Organisation NNP cord-014712-5u4e00q6 711 19 for for IN cord-014712-5u4e00q6 711 20 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 711 21 ) ) -RRB- cord-014712-5u4e00q6 711 22 . . . cord-014712-5u4e00q6 712 1 We -PRON- PRP cord-014712-5u4e00q6 712 2 aimed aim VBD cord-014712-5u4e00q6 712 3 at at IN cord-014712-5u4e00q6 712 4 the the DT cord-014712-5u4e00q6 712 5 period period NN cord-014712-5u4e00q6 712 6 before before IN cord-014712-5u4e00q6 712 7 diagnosis diagnosis NN cord-014712-5u4e00q6 712 8 - - HYPH cord-014712-5u4e00q6 712 9 onset onset NN cord-014712-5u4e00q6 712 10 of of IN cord-014712-5u4e00q6 712 11 the the DT cord-014712-5u4e00q6 712 12 symptoms symptom NNS cord-014712-5u4e00q6 712 13 and and CC cord-014712-5u4e00q6 712 14 their -PRON- PRP$ cord-014712-5u4e00q6 712 15 characters character NNS cord-014712-5u4e00q6 712 16 and and CC cord-014712-5u4e00q6 712 17 the the DT cord-014712-5u4e00q6 712 18 course course NN cord-014712-5u4e00q6 712 19 of of IN cord-014712-5u4e00q6 712 20 the the DT cord-014712-5u4e00q6 712 21 disease disease NN cord-014712-5u4e00q6 712 22 - - HYPH cord-014712-5u4e00q6 712 23 effect effect NN cord-014712-5u4e00q6 712 24 of of IN cord-014712-5u4e00q6 712 25 therapy therapy NN cord-014712-5u4e00q6 712 26 , , , cord-014712-5u4e00q6 712 27 occurence occurence NN cord-014712-5u4e00q6 712 28 of of IN cord-014712-5u4e00q6 712 29 the the DT cord-014712-5u4e00q6 712 30 related related JJ cord-014712-5u4e00q6 712 31 complications complication NNS cord-014712-5u4e00q6 712 32 . . . cord-014712-5u4e00q6 713 1 Finally finally RB cord-014712-5u4e00q6 713 2 , , , cord-014712-5u4e00q6 713 3 we -PRON- PRP cord-014712-5u4e00q6 713 4 compared compare VBD cord-014712-5u4e00q6 713 5 our -PRON- PRP$ cord-014712-5u4e00q6 713 6 data datum NNS cord-014712-5u4e00q6 713 7 with with IN cord-014712-5u4e00q6 713 8 similar similar JJ cord-014712-5u4e00q6 713 9 performed perform VBN cord-014712-5u4e00q6 713 10 studies study NNS cord-014712-5u4e00q6 713 11 . . . cord-014712-5u4e00q6 714 1 Chronic chronic JJ cord-014712-5u4e00q6 714 2 and and CC cord-014712-5u4e00q6 714 3 recurrent recurrent JJ cord-014712-5u4e00q6 714 4 upper upper JJ cord-014712-5u4e00q6 714 5 and and CC cord-014712-5u4e00q6 714 6 lower low JJR cord-014712-5u4e00q6 714 7 respiratory respiratory JJ cord-014712-5u4e00q6 714 8 infections infection NNS cord-014712-5u4e00q6 714 9 were be VBD cord-014712-5u4e00q6 714 10 the the DT cord-014712-5u4e00q6 714 11 most most RBS cord-014712-5u4e00q6 714 12 frequent frequent JJ cord-014712-5u4e00q6 714 13 first first JJ cord-014712-5u4e00q6 714 14 manifestation manifestation NN cord-014712-5u4e00q6 714 15 of of IN cord-014712-5u4e00q6 714 16 our -PRON- PRP$ cord-014712-5u4e00q6 714 17 CVID CVID NNP cord-014712-5u4e00q6 714 18 patients patient NNS cord-014712-5u4e00q6 714 19 , , , cord-014712-5u4e00q6 714 20 but but CC cord-014712-5u4e00q6 714 21 developed develop VBD cord-014712-5u4e00q6 714 22 chronic chronic JJ cord-014712-5u4e00q6 714 23 lung lung NN cord-014712-5u4e00q6 714 24 disease disease NN cord-014712-5u4e00q6 714 25 or or CC cord-014712-5u4e00q6 714 26 autoimmune autoimmune JJ cord-014712-5u4e00q6 714 27 disorder disorder NN cord-014712-5u4e00q6 714 28 as as RB cord-014712-5u4e00q6 714 29 well well RB cord-014712-5u4e00q6 714 30 . . . cord-014712-5u4e00q6 715 1 In in IN cord-014712-5u4e00q6 715 2 all all DT cord-014712-5u4e00q6 715 3 patients patient NNS cord-014712-5u4e00q6 715 4 the the DT cord-014712-5u4e00q6 715 5 intravenous intravenous JJ cord-014712-5u4e00q6 715 6 or or CC cord-014712-5u4e00q6 715 7 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 715 8 imunoglobulin imunoglobulin NNP cord-014712-5u4e00q6 715 9 replacement replacement NN cord-014712-5u4e00q6 715 10 therapy therapy NN cord-014712-5u4e00q6 715 11 , , , cord-014712-5u4e00q6 715 12 eventually eventually RB cord-014712-5u4e00q6 715 13 combined combine VBN cord-014712-5u4e00q6 715 14 therapy therapy NN cord-014712-5u4e00q6 715 15 with with IN cord-014712-5u4e00q6 715 16 antibiotic antibiotic JJ cord-014712-5u4e00q6 715 17 prophylaxis prophylaxis NN cord-014712-5u4e00q6 715 18 , , , cord-014712-5u4e00q6 715 19 was be VBD cord-014712-5u4e00q6 715 20 initiated initiate VBN cord-014712-5u4e00q6 715 21 . . . cord-014712-5u4e00q6 716 1 Beside beside IN cord-014712-5u4e00q6 716 2 chronic chronic JJ cord-014712-5u4e00q6 716 3 lung lung NN cord-014712-5u4e00q6 716 4 disease disease NN cord-014712-5u4e00q6 716 5 the the DT cord-014712-5u4e00q6 716 6 most most RBS cord-014712-5u4e00q6 716 7 common common JJ cord-014712-5u4e00q6 716 8 complications complication NNS cord-014712-5u4e00q6 716 9 were be VBD cord-014712-5u4e00q6 716 10 autoimmunity autoimmunity NN cord-014712-5u4e00q6 716 11 disorders disorder NNS cord-014712-5u4e00q6 716 12 , , , cord-014712-5u4e00q6 716 13 especially especially RB cord-014712-5u4e00q6 716 14 autoimmune autoimmune JJ cord-014712-5u4e00q6 716 15 thyroiditis thyroiditis NN cord-014712-5u4e00q6 716 16 , , , cord-014712-5u4e00q6 716 17 Evans Evans NNP cord-014712-5u4e00q6 716 18 syndrome syndrome NN cord-014712-5u4e00q6 716 19 , , , cord-014712-5u4e00q6 716 20 trombocytopenia trombocytopenia NNP cord-014712-5u4e00q6 716 21 ( ( -LRB- cord-014712-5u4e00q6 716 22 ITP ITP NNP cord-014712-5u4e00q6 716 23 ) ) -RRB- cord-014712-5u4e00q6 716 24 , , , cord-014712-5u4e00q6 716 25 autoimmune autoimmune JJ cord-014712-5u4e00q6 716 26 hemolytic hemolytic JJ cord-014712-5u4e00q6 716 27 anemia anemia NN cord-014712-5u4e00q6 716 28 ( ( -LRB- cord-014712-5u4e00q6 716 29 AIHA AIHA NNP cord-014712-5u4e00q6 716 30 ) ) -RRB- cord-014712-5u4e00q6 716 31 . . . cord-014712-5u4e00q6 717 1 On on IN cord-014712-5u4e00q6 717 2 the the DT cord-014712-5u4e00q6 717 3 contrary contrary NN cord-014712-5u4e00q6 717 4 we -PRON- PRP cord-014712-5u4e00q6 717 5 revealed reveal VBD cord-014712-5u4e00q6 717 6 2 2 CD cord-014712-5u4e00q6 717 7 patients patient NNS cord-014712-5u4e00q6 717 8 with with IN cord-014712-5u4e00q6 717 9 insuline insuline NN cord-014712-5u4e00q6 717 10 dependent dependent JJ cord-014712-5u4e00q6 717 11 ( ( -LRB- cord-014712-5u4e00q6 717 12 type type NN cord-014712-5u4e00q6 717 13 1 1 CD cord-014712-5u4e00q6 717 14 ) ) -RRB- cord-014712-5u4e00q6 717 15 diabetes diabete VBZ cord-014712-5u4e00q6 717 16 mellitus mellitus NN cord-014712-5u4e00q6 717 17 and and CC cord-014712-5u4e00q6 717 18 CVID CVID NNP cord-014712-5u4e00q6 717 19 . . . cord-014712-5u4e00q6 718 1 Only only RB cord-014712-5u4e00q6 718 2 few few JJ cord-014712-5u4e00q6 718 3 case case NN cord-014712-5u4e00q6 718 4 reports report NNS cord-014712-5u4e00q6 718 5 have have VBP cord-014712-5u4e00q6 718 6 been be VBN cord-014712-5u4e00q6 718 7 published publish VBN cord-014712-5u4e00q6 718 8 with with IN cord-014712-5u4e00q6 718 9 such such JJ cord-014712-5u4e00q6 718 10 association association NN cord-014712-5u4e00q6 718 11 . . . cord-014712-5u4e00q6 719 1 Successful successful JJ cord-014712-5u4e00q6 719 2 management management NN cord-014712-5u4e00q6 719 3 of of IN cord-014712-5u4e00q6 719 4 CVID CVID NNP cord-014712-5u4e00q6 719 5 patients patient NNS cord-014712-5u4e00q6 719 6 is be VBZ cord-014712-5u4e00q6 719 7 based base VBN cord-014712-5u4e00q6 719 8 on on IN cord-014712-5u4e00q6 719 9 a a DT cord-014712-5u4e00q6 719 10 prevention prevention NN cord-014712-5u4e00q6 719 11 and and CC cord-014712-5u4e00q6 719 12 a a DT cord-014712-5u4e00q6 719 13 consistent consistent JJ cord-014712-5u4e00q6 719 14 treatment treatment NN cord-014712-5u4e00q6 719 15 of of IN cord-014712-5u4e00q6 719 16 infections infection NNS cord-014712-5u4e00q6 719 17 with with IN cord-014712-5u4e00q6 719 18 sufficient sufficient JJ cord-014712-5u4e00q6 719 19 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 719 20 replcement replcement NN cord-014712-5u4e00q6 719 21 and/or and/or CC cord-014712-5u4e00q6 719 22 antibiotic antibiotic JJ cord-014712-5u4e00q6 719 23 therapy therapy NN cord-014712-5u4e00q6 719 24 , , , cord-014712-5u4e00q6 719 25 a a DT cord-014712-5u4e00q6 719 26 prevention prevention NN cord-014712-5u4e00q6 719 27 and and CC cord-014712-5u4e00q6 719 28 an an DT cord-014712-5u4e00q6 719 29 active active JJ cord-014712-5u4e00q6 719 30 screening screening NN cord-014712-5u4e00q6 719 31 of of IN cord-014712-5u4e00q6 719 32 CVID CVID NNP cord-014712-5u4e00q6 719 33 related relate VBN cord-014712-5u4e00q6 719 34 complications complication NNS cord-014712-5u4e00q6 719 35 . . . cord-014712-5u4e00q6 720 1 Such such JJ cord-014712-5u4e00q6 720 2 approach approach NN cord-014712-5u4e00q6 720 3 can can MD cord-014712-5u4e00q6 720 4 significantly significantly RB cord-014712-5u4e00q6 720 5 improve improve VB cord-014712-5u4e00q6 720 6 the the DT cord-014712-5u4e00q6 720 7 prognosis prognosis NN cord-014712-5u4e00q6 720 8 of of IN cord-014712-5u4e00q6 720 9 CVID CVID NNP cord-014712-5u4e00q6 720 10 patients patient NNS cord-014712-5u4e00q6 720 11 and and CC cord-014712-5u4e00q6 720 12 the the DT cord-014712-5u4e00q6 720 13 quality quality NN cord-014712-5u4e00q6 720 14 of of IN cord-014712-5u4e00q6 720 15 their -PRON- PRP$ cord-014712-5u4e00q6 720 16 life life NN cord-014712-5u4e00q6 720 17 . . . cord-014712-5u4e00q6 721 1 Laura Laura NNP cord-014712-5u4e00q6 721 2 Zilinskaite Zilinskaite NNP cord-014712-5u4e00q6 721 3 1 1 CD cord-014712-5u4e00q6 721 4 ; ; : cord-014712-5u4e00q6 722 1 Ieva Ieva NNP cord-014712-5u4e00q6 722 2 Bajoriuniene Bajoriuniene NNP cord-014712-5u4e00q6 722 3 1,2 1,2 CD cord-014712-5u4e00q6 722 4 ; ; : cord-014712-5u4e00q6 722 5 Raimundas Raimundas NNP cord-014712-5u4e00q6 722 6 Sakalauskas Sakalauskas NNP cord-014712-5u4e00q6 722 7 1 1 CD cord-014712-5u4e00q6 722 8 ; ; : cord-014712-5u4e00q6 722 9 Brigita Brigita NNP cord-014712-5u4e00q6 722 10 Sitkauskiene Sitkauskiene NNP cord-014712-5u4e00q6 722 11 1,2 1,2 CD cord-014712-5u4e00q6 722 12 1 1 CD cord-014712-5u4e00q6 722 13 Department Department NNP cord-014712-5u4e00q6 722 14 of of IN cord-014712-5u4e00q6 722 15 Pulmonology Pulmonology NNP cord-014712-5u4e00q6 722 16 and and CC cord-014712-5u4e00q6 722 17 Immunology Immunology NNP cord-014712-5u4e00q6 722 18 , , , cord-014712-5u4e00q6 722 19 Lithuanian Lithuanian NNP cord-014712-5u4e00q6 722 20 University University NNP cord-014712-5u4e00q6 722 21 of of IN cord-014712-5u4e00q6 722 22 Health Health NNP cord-014712-5u4e00q6 722 23 Sciences Sciences NNPS cord-014712-5u4e00q6 722 24 , , , cord-014712-5u4e00q6 722 25 Kaunas Kaunas NNP cord-014712-5u4e00q6 722 26 , , , cord-014712-5u4e00q6 722 27 Lithuania Lithuania NNP cord-014712-5u4e00q6 722 28 . . . cord-014712-5u4e00q6 723 1 Background background NN cord-014712-5u4e00q6 723 2 . . . cord-014712-5u4e00q6 724 1 Primary primary JJ cord-014712-5u4e00q6 724 2 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 724 3 ( ( -LRB- cord-014712-5u4e00q6 724 4 PID PID NNP cord-014712-5u4e00q6 724 5 ) ) -RRB- cord-014712-5u4e00q6 724 6 is be VBZ cord-014712-5u4e00q6 724 7 considered consider VBN cord-014712-5u4e00q6 724 8 to to TO cord-014712-5u4e00q6 724 9 be be VB cord-014712-5u4e00q6 724 10 a a DT cord-014712-5u4e00q6 724 11 rare rare JJ cord-014712-5u4e00q6 724 12 disease disease NN cord-014712-5u4e00q6 724 13 . . . cord-014712-5u4e00q6 725 1 Despite despite IN cord-014712-5u4e00q6 725 2 that that IN cord-014712-5u4e00q6 725 3 it -PRON- PRP cord-014712-5u4e00q6 725 4 is be VBZ cord-014712-5u4e00q6 725 5 thought think VBN cord-014712-5u4e00q6 725 6 that that IN cord-014712-5u4e00q6 725 7 six six CD cord-014712-5u4e00q6 725 8 million million CD cord-014712-5u4e00q6 725 9 people people NNS cord-014712-5u4e00q6 725 10 may may MD cord-014712-5u4e00q6 725 11 be be VB cord-014712-5u4e00q6 725 12 living live VBG cord-014712-5u4e00q6 725 13 with with IN cord-014712-5u4e00q6 725 14 a a DT cord-014712-5u4e00q6 725 15 PID PID NNP cord-014712-5u4e00q6 725 16 worldwide worldwide RB cord-014712-5u4e00q6 725 17 . . . cord-014712-5u4e00q6 726 1 In in IN cord-014712-5u4e00q6 726 2 the the DT cord-014712-5u4e00q6 726 3 Hospital Hospital NNP cord-014712-5u4e00q6 726 4 of of IN cord-014712-5u4e00q6 726 5 Lithuanian Lithuanian NNP cord-014712-5u4e00q6 726 6 University University NNP cord-014712-5u4e00q6 726 7 of of IN cord-014712-5u4e00q6 726 8 Health Health NNP cord-014712-5u4e00q6 726 9 Sciences Sciences NNPS cord-014712-5u4e00q6 726 10 ( ( -LRB- cord-014712-5u4e00q6 726 11 HLUHS HLUHS NNP cord-014712-5u4e00q6 726 12 ) ) -RRB- cord-014712-5u4e00q6 726 13 patients patient NNS cord-014712-5u4e00q6 726 14 with with IN cord-014712-5u4e00q6 726 15 suspected suspect VBN cord-014712-5u4e00q6 726 16 immune immune JJ cord-014712-5u4e00q6 726 17 disorders disorder NNS cord-014712-5u4e00q6 726 18 have have VBP cord-014712-5u4e00q6 726 19 been be VBN cord-014712-5u4e00q6 726 20 diagnosed diagnose VBN cord-014712-5u4e00q6 726 21 and and CC cord-014712-5u4e00q6 726 22 treated treat VBN cord-014712-5u4e00q6 726 23 since since IN cord-014712-5u4e00q6 726 24 1998 1998 CD cord-014712-5u4e00q6 726 25 . . . cord-014712-5u4e00q6 727 1 We -PRON- PRP cord-014712-5u4e00q6 727 2 aimed aim VBD cord-014712-5u4e00q6 727 3 to to TO cord-014712-5u4e00q6 727 4 review review VB cord-014712-5u4e00q6 727 5 the the DT cord-014712-5u4e00q6 727 6 structure structure NN cord-014712-5u4e00q6 727 7 of of IN cord-014712-5u4e00q6 727 8 PID PID NNP cord-014712-5u4e00q6 727 9 diagnosed diagnose VBD cord-014712-5u4e00q6 727 10 and and CC cord-014712-5u4e00q6 727 11 treated treat VBN cord-014712-5u4e00q6 727 12 in in IN cord-014712-5u4e00q6 727 13 HLUHS HLUHS NNP cord-014712-5u4e00q6 727 14 during during IN cord-014712-5u4e00q6 727 15 the the DT cord-014712-5u4e00q6 727 16 last last JJ cord-014712-5u4e00q6 727 17 five five CD cord-014712-5u4e00q6 727 18 years year NNS cord-014712-5u4e00q6 727 19 . . . cord-014712-5u4e00q6 728 1 Methods method NNS cord-014712-5u4e00q6 728 2 . . . cord-014712-5u4e00q6 729 1 Data datum NNS cord-014712-5u4e00q6 729 2 about about IN cord-014712-5u4e00q6 729 3 patients patient NNS cord-014712-5u4e00q6 729 4 with with IN cord-014712-5u4e00q6 729 5 PID PID NNP cord-014712-5u4e00q6 729 6 consulted consult VBD cord-014712-5u4e00q6 729 7 in in IN cord-014712-5u4e00q6 729 8 the the DT cord-014712-5u4e00q6 729 9 HLUHS HLUHS NNP cord-014712-5u4e00q6 729 10 was be VBD cord-014712-5u4e00q6 729 11 collected collect VBN cord-014712-5u4e00q6 729 12 from from IN cord-014712-5u4e00q6 729 13 the the DT cord-014712-5u4e00q6 729 14 Department Department NNP cord-014712-5u4e00q6 729 15 of of IN cord-014712-5u4e00q6 729 16 Medical Medical NNP cord-014712-5u4e00q6 729 17 Statistics Statistics NNPS cord-014712-5u4e00q6 729 18 . . . cord-014712-5u4e00q6 730 1 Case case NN cord-014712-5u4e00q6 730 2 histories history NNS cord-014712-5u4e00q6 730 3 of of IN cord-014712-5u4e00q6 730 4 these these DT cord-014712-5u4e00q6 730 5 patients patient NNS cord-014712-5u4e00q6 730 6 were be VBD cord-014712-5u4e00q6 730 7 revised revise VBN cord-014712-5u4e00q6 730 8 and and CC cord-014712-5u4e00q6 730 9 patients patient NNS cord-014712-5u4e00q6 730 10 ' ' POS cord-014712-5u4e00q6 730 11 data datum NNS cord-014712-5u4e00q6 730 12 was be VBD cord-014712-5u4e00q6 730 13 collected collect VBN cord-014712-5u4e00q6 730 14 : : : cord-014712-5u4e00q6 730 15 onset onset NN cord-014712-5u4e00q6 730 16 of of IN cord-014712-5u4e00q6 730 17 symptoms symptom NNS cord-014712-5u4e00q6 730 18 , , , cord-014712-5u4e00q6 730 19 type type NN cord-014712-5u4e00q6 730 20 and and CC cord-014712-5u4e00q6 730 21 duration duration NN cord-014712-5u4e00q6 730 22 of of IN cord-014712-5u4e00q6 730 23 disorder disorder NN cord-014712-5u4e00q6 730 24 , , , cord-014712-5u4e00q6 730 25 type type NN cord-014712-5u4e00q6 730 26 of of IN cord-014712-5u4e00q6 730 27 treatment treatment NN cord-014712-5u4e00q6 730 28 . . . cord-014712-5u4e00q6 731 1 All all DT cord-014712-5u4e00q6 731 2 patients patient NNS cord-014712-5u4e00q6 731 3 with with IN cord-014712-5u4e00q6 731 4 PID PID NNP cord-014712-5u4e00q6 731 5 were be VBD cord-014712-5u4e00q6 731 6 divided divide VBN cord-014712-5u4e00q6 731 7 into into IN cord-014712-5u4e00q6 731 8 several several JJ cord-014712-5u4e00q6 731 9 groups group NNS cord-014712-5u4e00q6 731 10 according accord VBG cord-014712-5u4e00q6 731 11 to to IN cord-014712-5u4e00q6 731 12 the the DT cord-014712-5u4e00q6 731 13 classification classification NN cord-014712-5u4e00q6 731 14 of of IN cord-014712-5u4e00q6 731 15 International International NNP cord-014712-5u4e00q6 731 16 Union Union NNP cord-014712-5u4e00q6 731 17 of of IN cord-014712-5u4e00q6 731 18 Immunological Immunological NNP cord-014712-5u4e00q6 731 19 Societies Societies NNPS cord-014712-5u4e00q6 731 20 Primary Primary NNP cord-014712-5u4e00q6 731 21 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 731 22 Diseases Diseases NNPS cord-014712-5u4e00q6 731 23 Classification Classification NNP cord-014712-5u4e00q6 731 24 Committee Committee NNP cord-014712-5u4e00q6 731 25 ( ( -LRB- cord-014712-5u4e00q6 731 26 2011 2011 CD cord-014712-5u4e00q6 731 27 ) ) -RRB- cord-014712-5u4e00q6 731 28 . . . cord-014712-5u4e00q6 732 1 Results result NNS cord-014712-5u4e00q6 732 2 . . . cord-014712-5u4e00q6 733 1 There there EX cord-014712-5u4e00q6 733 2 were be VBD cord-014712-5u4e00q6 733 3 57 57 CD cord-014712-5u4e00q6 733 4 patients patient NNS cord-014712-5u4e00q6 733 5 with with IN cord-014712-5u4e00q6 733 6 PID PID NNP cord-014712-5u4e00q6 733 7 diagnosed diagnose VBN cord-014712-5u4e00q6 733 8 in in IN cord-014712-5u4e00q6 733 9 the the DT cord-014712-5u4e00q6 733 10 Centre Centre NNP cord-014712-5u4e00q6 733 11 . . . cord-014712-5u4e00q6 734 1 Antibody antibody NN cord-014712-5u4e00q6 734 2 deficiency deficiency NN cord-014712-5u4e00q6 734 3 was be VBD cord-014712-5u4e00q6 734 4 diagnosed diagnose VBN cord-014712-5u4e00q6 734 5 for for IN cord-014712-5u4e00q6 734 6 38 38 CD cord-014712-5u4e00q6 734 7 patients patient NNS cord-014712-5u4e00q6 734 8 : : : cord-014712-5u4e00q6 734 9 3 3 LS cord-014712-5u4e00q6 734 10 -Bruton -Bruton NNP cord-014712-5u4e00q6 734 11 's 's POS cord-014712-5u4e00q6 734 12 disease disease NN cord-014712-5u4e00q6 734 13 , , , cord-014712-5u4e00q6 734 14 14common 14common CD cord-014712-5u4e00q6 734 15 variable variable JJ cord-014712-5u4e00q6 734 16 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 734 17 ( ( -LRB- cord-014712-5u4e00q6 734 18 CVID CVID NNP cord-014712-5u4e00q6 734 19 ) ) -RRB- cord-014712-5u4e00q6 734 20 and and CC cord-014712-5u4e00q6 734 21 21selective 21selective CD cord-014712-5u4e00q6 734 22 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 734 23 ( ( -LRB- cord-014712-5u4e00q6 734 24 Ig Ig NNP cord-014712-5u4e00q6 734 25 ) ) -RRB- cord-014712-5u4e00q6 734 26 A a DT cord-014712-5u4e00q6 734 27 deficiency deficiency NN cord-014712-5u4e00q6 734 28 . . . cord-014712-5u4e00q6 735 1 Complement complement JJ cord-014712-5u4e00q6 735 2 deficiencies deficiency NNS cord-014712-5u4e00q6 735 3 were be VBD cord-014712-5u4e00q6 735 4 diagnosed diagnose VBN cord-014712-5u4e00q6 735 5 for for IN cord-014712-5u4e00q6 735 6 13 13 CD cord-014712-5u4e00q6 735 7 patients patient NNS cord-014712-5u4e00q6 735 8 : : : cord-014712-5u4e00q6 735 9 11 11 CD cord-014712-5u4e00q6 735 10 -C1 -c1 DT cord-014712-5u4e00q6 735 11 esterase esterase NN cord-014712-5u4e00q6 735 12 inhibitor inhibitor NN cord-014712-5u4e00q6 735 13 deficiency deficiency NN cord-014712-5u4e00q6 735 14 and and CC cord-014712-5u4e00q6 735 15 2 2 CD cord-014712-5u4e00q6 735 16 -C4 -c4 NN cord-014712-5u4e00q6 735 17 deficiency deficiency NN cord-014712-5u4e00q6 735 18 . . . cord-014712-5u4e00q6 736 1 Another another DT cord-014712-5u4e00q6 736 2 well well RB cord-014712-5u4e00q6 736 3 - - HYPH cord-014712-5u4e00q6 736 4 defined define VBN cord-014712-5u4e00q6 736 5 syndrome syndrome NN cord-014712-5u4e00q6 736 6 with with IN cord-014712-5u4e00q6 736 7 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 736 8 was be VBD cord-014712-5u4e00q6 736 9 found find VBN cord-014712-5u4e00q6 736 10 in in IN cord-014712-5u4e00q6 736 11 six six CD cord-014712-5u4e00q6 736 12 patients patient NNS cord-014712-5u4e00q6 736 13 . . . cord-014712-5u4e00q6 737 1 The the DT cord-014712-5u4e00q6 737 2 most most RBS cord-014712-5u4e00q6 737 3 prevalent prevalent JJ cord-014712-5u4e00q6 737 4 symptom symptom NN cord-014712-5u4e00q6 737 5 in in IN cord-014712-5u4e00q6 737 6 patients patient NNS cord-014712-5u4e00q6 737 7 with with IN cord-014712-5u4e00q6 737 8 predominant predominant JJ cord-014712-5u4e00q6 737 9 IgG IgG NNP cord-014712-5u4e00q6 737 10 deficiency deficiency NN cord-014712-5u4e00q6 737 11 was be VBD cord-014712-5u4e00q6 737 12 recurrent recurrent JJ cord-014712-5u4e00q6 737 13 pneumonias pneumonia NNS cord-014712-5u4e00q6 737 14 which which WDT cord-014712-5u4e00q6 737 15 occurred occur VBD cord-014712-5u4e00q6 737 16 at at IN cord-014712-5u4e00q6 737 17 the the DT cord-014712-5u4e00q6 737 18 age age NN cord-014712-5u4e00q6 737 19 11.9 11.9 CD cord-014712-5u4e00q6 737 20 ± ± CD cord-014712-5u4e00q6 737 21 4.9 4.9 CD cord-014712-5u4e00q6 737 22 yrs yr NNS cord-014712-5u4e00q6 737 23 . . . cord-014712-5u4e00q6 738 1 The the DT cord-014712-5u4e00q6 738 2 mean mean JJ cord-014712-5u4e00q6 738 3 time time NN cord-014712-5u4e00q6 738 4 between between IN cord-014712-5u4e00q6 738 5 the the DT cord-014712-5u4e00q6 738 6 onset onset NN cord-014712-5u4e00q6 738 7 of of IN cord-014712-5u4e00q6 738 8 symptoms symptom NNS cord-014712-5u4e00q6 738 9 and and CC cord-014712-5u4e00q6 738 10 confirmation confirmation NN cord-014712-5u4e00q6 738 11 of of IN cord-014712-5u4e00q6 738 12 the the DT cord-014712-5u4e00q6 738 13 diagnosis diagnosis NN cord-014712-5u4e00q6 738 14 was be VBD cord-014712-5u4e00q6 738 15 14.6 14.6 CD cord-014712-5u4e00q6 738 16 ± ± NNP cord-014712-5u4e00q6 738 17 6.4 6.4 CD cord-014712-5u4e00q6 738 18 yrs yr NNS cord-014712-5u4e00q6 738 19 . . . cord-014712-5u4e00q6 739 1 Thirteen thirteen CD cord-014712-5u4e00q6 739 2 patients patient NNS cord-014712-5u4e00q6 739 3 are be VBP cord-014712-5u4e00q6 739 4 on on IN cord-014712-5u4e00q6 739 5 the the DT cord-014712-5u4e00q6 739 6 replacement replacement NN cord-014712-5u4e00q6 739 7 therapy therapy NN cord-014712-5u4e00q6 739 8 with with IN cord-014712-5u4e00q6 739 9 intravenous intravenous JJ cord-014712-5u4e00q6 739 10 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 739 11 . . . cord-014712-5u4e00q6 740 1 These these DT cord-014712-5u4e00q6 740 2 patients patient NNS cord-014712-5u4e00q6 740 3 had have VBD cord-014712-5u4e00q6 740 4 2 2 CD cord-014712-5u4e00q6 740 5 - - SYM cord-014712-5u4e00q6 740 6 6 6 CD cord-014712-5u4e00q6 740 7 infections infection NNS cord-014712-5u4e00q6 740 8 / / SYM cord-014712-5u4e00q6 740 9 year year NN cord-014712-5u4e00q6 740 10 before before IN cord-014712-5u4e00q6 740 11 the the DT cord-014712-5u4e00q6 740 12 treatment treatment NN cord-014712-5u4e00q6 740 13 initiation initiation NN cord-014712-5u4e00q6 740 14 and and CC cord-014712-5u4e00q6 740 15 only only RB cord-014712-5u4e00q6 740 16 0 0 CD cord-014712-5u4e00q6 740 17 - - SYM cord-014712-5u4e00q6 740 18 1 1 CD cord-014712-5u4e00q6 740 19 infections infection NNS cord-014712-5u4e00q6 740 20 / / SYM cord-014712-5u4e00q6 740 21 year year NN cord-014712-5u4e00q6 740 22 during during IN cord-014712-5u4e00q6 740 23 the the DT cord-014712-5u4e00q6 740 24 treatment treatment NN cord-014712-5u4e00q6 740 25 . . . cord-014712-5u4e00q6 741 1 •PID •PID NNP cord-014712-5u4e00q6 741 2 center center NN cord-014712-5u4e00q6 741 3 has have VBZ cord-014712-5u4e00q6 741 4 successful successful JJ cord-014712-5u4e00q6 741 5 sideproject sideproject NN cord-014712-5u4e00q6 741 6 as as IN cord-014712-5u4e00q6 741 7 Regional Regional NNP cord-014712-5u4e00q6 741 8 charitable charitable JJ cord-014712-5u4e00q6 741 9 public public JJ cord-014712-5u4e00q6 741 10 organization organization NN cord-014712-5u4e00q6 741 11 of of IN cord-014712-5u4e00q6 741 12 invalids invalid NNS cord-014712-5u4e00q6 741 13 " " `` cord-014712-5u4e00q6 741 14 Society Society NNP cord-014712-5u4e00q6 741 15 of of IN cord-014712-5u4e00q6 741 16 patients patient NNS cord-014712-5u4e00q6 741 17 with with IN cord-014712-5u4e00q6 741 18 primary primary JJ cord-014712-5u4e00q6 741 19 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 741 20 diseases disease NNS cord-014712-5u4e00q6 741 21 in in IN cord-014712-5u4e00q6 741 22 St. St. NNP cord-014712-5u4e00q6 741 23 Petersburg Petersburg NNP cord-014712-5u4e00q6 741 24 " " `` cord-014712-5u4e00q6 741 25 Solovushka Solovushka NNP cord-014712-5u4e00q6 741 26 ( ( -LRB- cord-014712-5u4e00q6 741 27 Nightingale Nightingale NNP cord-014712-5u4e00q6 741 28 ) ) -RRB- cord-014712-5u4e00q6 741 29 " " '' cord-014712-5u4e00q6 741 30 " " '' cord-014712-5u4e00q6 741 31 . . . cord-014712-5u4e00q6 742 1 Web web NN cord-014712-5u4e00q6 742 2 site site NN cord-014712-5u4e00q6 742 3 for for IN cord-014712-5u4e00q6 742 4 patients patient NNS cord-014712-5u4e00q6 742 5 ( ( -LRB- cord-014712-5u4e00q6 742 6 www.opidspb.ru www.opidspb.ru NN cord-014712-5u4e00q6 742 7 ) ) -RRB- cord-014712-5u4e00q6 742 8 was be VBD cord-014712-5u4e00q6 742 9 opened open VBN cord-014712-5u4e00q6 742 10 due due IN cord-014712-5u4e00q6 742 11 to to IN cord-014712-5u4e00q6 742 12 mutual mutual JJ cord-014712-5u4e00q6 742 13 efforts effort NNS cord-014712-5u4e00q6 742 14 of of IN cord-014712-5u4e00q6 742 15 PID PID NNP cord-014712-5u4e00q6 742 16 center center NN cord-014712-5u4e00q6 742 17 staff staff NN cord-014712-5u4e00q6 742 18 and and CC cord-014712-5u4e00q6 742 19 patients patient NNS cord-014712-5u4e00q6 742 20 . . . cord-014712-5u4e00q6 743 1 PID PID NNP cord-014712-5u4e00q6 743 2 Center Center NNP cord-014712-5u4e00q6 743 3 laboratory laboratory NN cord-014712-5u4e00q6 743 4 is be VBZ cord-014712-5u4e00q6 743 5 based base VBN cord-014712-5u4e00q6 743 6 on on IN cord-014712-5u4e00q6 743 7 SPb SPb NNP cord-014712-5u4e00q6 743 8 Pasteur Pasteur NNP cord-014712-5u4e00q6 743 9 Institute Institute NNP cord-014712-5u4e00q6 743 10 Central Central NNP cord-014712-5u4e00q6 743 11 Clinical Clinical NNP cord-014712-5u4e00q6 743 12 Diagnostics Diagnostics NNPS cord-014712-5u4e00q6 743 13 Laboratory Laboratory NNP cord-014712-5u4e00q6 743 14 and and CC cord-014712-5u4e00q6 743 15 Laboratory Laboratory NNP cord-014712-5u4e00q6 743 16 of of IN cord-014712-5u4e00q6 743 17 Molecular Molecular NNP cord-014712-5u4e00q6 743 18 immunology immunology NN cord-014712-5u4e00q6 743 19 and and CC cord-014712-5u4e00q6 743 20 seroepidemiology seroepidemiology NN cord-014712-5u4e00q6 743 21 . . . cord-014712-5u4e00q6 744 1 Main main JJ cord-014712-5u4e00q6 744 2 groups group NNS cord-014712-5u4e00q6 744 3 of of IN cord-014712-5u4e00q6 744 4 tests test NNS cord-014712-5u4e00q6 744 5 perform perform VBP cord-014712-5u4e00q6 744 6 for for IN cord-014712-5u4e00q6 744 7 PID pid NN cord-014712-5u4e00q6 744 8 patients patient NNS cord-014712-5u4e00q6 744 9 are be VBP cord-014712-5u4e00q6 744 10 : : : cord-014712-5u4e00q6 744 11 general general JJ cord-014712-5u4e00q6 744 12 clinical clinical JJ cord-014712-5u4e00q6 744 13 assays assay NNS cord-014712-5u4e00q6 744 14 ; ; , cord-014712-5u4e00q6 744 15 flow flow VB cord-014712-5u4e00q6 744 16 cytometry cytometry NN cord-014712-5u4e00q6 744 17 ( ( -LRB- cord-014712-5u4e00q6 744 18 6-color 6-color CD cord-014712-5u4e00q6 744 19 assay assay NN cord-014712-5u4e00q6 744 20 on on IN cord-014712-5u4e00q6 744 21 FACS FACS NNP cord-014712-5u4e00q6 744 22 Canto Canto NNP cord-014712-5u4e00q6 744 23 II II NNP cord-014712-5u4e00q6 744 24 ) ) -RRB- cord-014712-5u4e00q6 744 25 ; ; , cord-014712-5u4e00q6 744 26 humoral humoral JJ cord-014712-5u4e00q6 744 27 factors factor NNS cord-014712-5u4e00q6 744 28 assays assay NNS cord-014712-5u4e00q6 744 29 ( ( -LRB- cord-014712-5u4e00q6 744 30 Ig Ig NNP cord-014712-5u4e00q6 744 31 levels level NNS cord-014712-5u4e00q6 744 32 , , , cord-014712-5u4e00q6 744 33 IgG IgG NNP cord-014712-5u4e00q6 744 34 subclasses subclass NNS cord-014712-5u4e00q6 744 35 , , , cord-014712-5u4e00q6 744 36 post post JJ cord-014712-5u4e00q6 744 37 - - JJ cord-014712-5u4e00q6 744 38 vaccination vaccination JJ cord-014712-5u4e00q6 744 39 IgG igg NN cord-014712-5u4e00q6 744 40 levels level NNS cord-014712-5u4e00q6 744 41 , , , cord-014712-5u4e00q6 744 42 etc etc FW cord-014712-5u4e00q6 744 43 . . . cord-014712-5u4e00q6 744 44 ) ) -RRB- cord-014712-5u4e00q6 744 45 ; ; : cord-014712-5u4e00q6 744 46 burst burst VB cord-014712-5u4e00q6 744 47 - - HYPH cord-014712-5u4e00q6 744 48 test test NN cord-014712-5u4e00q6 744 49 on on IN cord-014712-5u4e00q6 744 50 flow flow NN cord-014712-5u4e00q6 744 51 cytometer cytometer NN cord-014712-5u4e00q6 744 52 ; ; , cord-014712-5u4e00q6 744 53 genetic genetic JJ cord-014712-5u4e00q6 744 54 analysis analysis NN cord-014712-5u4e00q6 744 55 of of IN cord-014712-5u4e00q6 744 56 Btk Btk NNP cord-014712-5u4e00q6 744 57 , , , cord-014712-5u4e00q6 744 58 Rag1 Rag1 NNP cord-014712-5u4e00q6 744 59 , , , cord-014712-5u4e00q6 744 60 Rag2,WAS Rag2,WAS NNP cord-014712-5u4e00q6 744 61 , , , cord-014712-5u4e00q6 744 62 CYBB CYBB NNP cord-014712-5u4e00q6 744 63 genes gene NNS cord-014712-5u4e00q6 744 64 . . . cord-014712-5u4e00q6 745 1 Despite despite IN cord-014712-5u4e00q6 745 2 of of IN cord-014712-5u4e00q6 745 3 relatively relatively RB cord-014712-5u4e00q6 745 4 short short JJ cord-014712-5u4e00q6 745 5 story story NN cord-014712-5u4e00q6 745 6 of of IN cord-014712-5u4e00q6 745 7 SPb SPb NNP cord-014712-5u4e00q6 745 8 PID PID NNP cord-014712-5u4e00q6 745 9 Center Center NNP cord-014712-5u4e00q6 745 10 it -PRON- PRP cord-014712-5u4e00q6 745 11 has have VBZ cord-014712-5u4e00q6 745 12 a a DT cord-014712-5u4e00q6 745 13 variety variety NN cord-014712-5u4e00q6 745 14 of of IN cord-014712-5u4e00q6 745 15 completely completely RB cord-014712-5u4e00q6 745 16 diagnosted diagnoste VBN cord-014712-5u4e00q6 745 17 and and CC cord-014712-5u4e00q6 745 18 successfully successfully RB cord-014712-5u4e00q6 745 19 cured cure VBN cord-014712-5u4e00q6 745 20 cases case NNS cord-014712-5u4e00q6 745 21 of of IN cord-014712-5u4e00q6 745 22 PID PID NNP cord-014712-5u4e00q6 745 23 including include VBG cord-014712-5u4e00q6 745 24 agammaglobulinemia agammaglobulinemia NN cord-014712-5u4e00q6 745 25 with with IN cord-014712-5u4e00q6 745 26 B b NN cord-014712-5u4e00q6 745 27 - - HYPH cord-014712-5u4e00q6 745 28 cell cell NN cord-014712-5u4e00q6 745 29 in in IN cord-014712-5u4e00q6 745 30 Identical Identical NNP cord-014712-5u4e00q6 745 31 siblings sibling NNS cord-014712-5u4e00q6 745 32 , , , cord-014712-5u4e00q6 745 33 Wiskott Wiskott NNP cord-014712-5u4e00q6 745 34 - - HYPH cord-014712-5u4e00q6 745 35 Aldrich Aldrich NNP cord-014712-5u4e00q6 745 36 syndrome syndrome NN cord-014712-5u4e00q6 745 37 , , , cord-014712-5u4e00q6 745 38 chronic chronic JJ cord-014712-5u4e00q6 745 39 granulomatous granulomatous JJ cord-014712-5u4e00q6 745 40 disease disease NN cord-014712-5u4e00q6 745 41 ( ( -LRB- cord-014712-5u4e00q6 745 42 CGD CGD NNP cord-014712-5u4e00q6 745 43 ) ) -RRB- cord-014712-5u4e00q6 745 44 , , , cord-014712-5u4e00q6 745 45 etc etc FW cord-014712-5u4e00q6 745 46 . . . cord-014712-5u4e00q6 746 1 Introduction introduction NN cord-014712-5u4e00q6 746 2 : : : cord-014712-5u4e00q6 747 1 The the DT cord-014712-5u4e00q6 747 2 primary primary JJ cord-014712-5u4e00q6 747 3 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 747 4 diseases disease NNS cord-014712-5u4e00q6 747 5 are be VBP cord-014712-5u4e00q6 747 6 a a DT cord-014712-5u4e00q6 747 7 group group NN cord-014712-5u4e00q6 747 8 of of IN cord-014712-5u4e00q6 747 9 disorders disorder NNS cord-014712-5u4e00q6 747 10 caused cause VBN cord-014712-5u4e00q6 747 11 by by IN cord-014712-5u4e00q6 747 12 basic basic JJ cord-014712-5u4e00q6 747 13 defects defect NNS cord-014712-5u4e00q6 747 14 in in IN cord-014712-5u4e00q6 747 15 immune immune JJ cord-014712-5u4e00q6 747 16 function function NN cord-014712-5u4e00q6 747 17 that that WDT cord-014712-5u4e00q6 747 18 are be VBP cord-014712-5u4e00q6 747 19 intrinsic intrinsic JJ cord-014712-5u4e00q6 747 20 to to IN cord-014712-5u4e00q6 747 21 , , , cord-014712-5u4e00q6 747 22 or or CC cord-014712-5u4e00q6 747 23 inherent inherent JJ cord-014712-5u4e00q6 747 24 in in IN cord-014712-5u4e00q6 747 25 , , , cord-014712-5u4e00q6 747 26 the the DT cord-014712-5u4e00q6 747 27 cells cell NNS cord-014712-5u4e00q6 747 28 and and CC cord-014712-5u4e00q6 747 29 proteins protein NNS cord-014712-5u4e00q6 747 30 of of IN cord-014712-5u4e00q6 747 31 the the DT cord-014712-5u4e00q6 747 32 immune immune JJ cord-014712-5u4e00q6 747 33 system system NN cord-014712-5u4e00q6 747 34 . . . cord-014712-5u4e00q6 748 1 There there EX cord-014712-5u4e00q6 748 2 are be VBP cord-014712-5u4e00q6 748 3 more more JJR cord-014712-5u4e00q6 748 4 than than IN cord-014712-5u4e00q6 748 5 200 200 CD cord-014712-5u4e00q6 748 6 primary primary JJ cord-014712-5u4e00q6 748 7 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 748 8 diseases disease NNS cord-014712-5u4e00q6 748 9 .. .. . cord-014712-5u4e00q6 749 1 Laboratory laboratory NN cord-014712-5u4e00q6 749 2 studies study NNS cord-014712-5u4e00q6 749 3 are be VBP cord-014712-5u4e00q6 749 4 necessary necessary JJ cord-014712-5u4e00q6 749 5 to to TO cord-014712-5u4e00q6 749 6 determine determine VB cord-014712-5u4e00q6 749 7 the the DT cord-014712-5u4e00q6 749 8 presence presence NN cord-014712-5u4e00q6 749 9 of of IN cord-014712-5u4e00q6 749 10 a a DT cord-014712-5u4e00q6 749 11 primary primary JJ cord-014712-5u4e00q6 749 12 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 749 13 diseases disease NNS cord-014712-5u4e00q6 749 14 . . . cord-014712-5u4e00q6 750 1 The the DT cord-014712-5u4e00q6 750 2 standard standard JJ cord-014712-5u4e00q6 750 3 screening screening NN cord-014712-5u4e00q6 750 4 tests test NNS cord-014712-5u4e00q6 750 5 for for IN cord-014712-5u4e00q6 750 6 antibody antibody NN cord-014712-5u4e00q6 750 7 deficiency deficiency NN cord-014712-5u4e00q6 750 8 starts start VBZ cord-014712-5u4e00q6 750 9 with with IN cord-014712-5u4e00q6 750 10 measurement measurement NN cord-014712-5u4e00q6 750 11 of of IN cord-014712-5u4e00q6 750 12 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 750 13 levels level NNS cord-014712-5u4e00q6 750 14 in in IN cord-014712-5u4e00q6 750 15 the the DT cord-014712-5u4e00q6 750 16 blood blood NN cord-014712-5u4e00q6 750 17 serum serum NN cord-014712-5u4e00q6 750 18 . . . cord-014712-5u4e00q6 751 1 These these DT cord-014712-5u4e00q6 751 2 consist consist VBP cord-014712-5u4e00q6 751 3 of of IN cord-014712-5u4e00q6 751 4 IgG IgG NNP cord-014712-5u4e00q6 751 5 , , , cord-014712-5u4e00q6 751 6 IgA IgA NNP cord-014712-5u4e00q6 751 7 and and CC cord-014712-5u4e00q6 751 8 IgM IgM NNP cord-014712-5u4e00q6 751 9 levels level NNS cord-014712-5u4e00q6 751 10 . . . cord-014712-5u4e00q6 752 1 The the DT cord-014712-5u4e00q6 752 2 results result NNS cord-014712-5u4e00q6 752 3 must must MD cord-014712-5u4e00q6 752 4 be be VB cord-014712-5u4e00q6 752 5 compared compare VBN cord-014712-5u4e00q6 752 6 to to IN cord-014712-5u4e00q6 752 7 agematched agematched JJ cord-014712-5u4e00q6 752 8 controls control NNS cord-014712-5u4e00q6 752 9 . . . cord-014712-5u4e00q6 753 1 Additional additional JJ cord-014712-5u4e00q6 753 2 studies study NNS cord-014712-5u4e00q6 753 3 used use VBD cord-014712-5u4e00q6 753 4 to to TO cord-014712-5u4e00q6 753 5 evaluate evaluate VB cord-014712-5u4e00q6 753 6 patients patient NNS cord-014712-5u4e00q6 753 7 with with IN cord-014712-5u4e00q6 753 8 antibody antibody NN cord-014712-5u4e00q6 753 9 deficiencies deficiency NNS cord-014712-5u4e00q6 753 10 include include VBP cord-014712-5u4e00q6 753 11 measuring measure VBG cord-014712-5u4e00q6 753 12 the the DT cord-014712-5u4e00q6 753 13 different different JJ cord-014712-5u4e00q6 753 14 types type NNS cord-014712-5u4e00q6 753 15 of of IN cord-014712-5u4e00q6 753 16 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 753 17 in in IN cord-014712-5u4e00q6 753 18 the the DT cord-014712-5u4e00q6 753 19 blood blood NN cord-014712-5u4e00q6 753 20 by by IN cord-014712-5u4e00q6 753 21 marking mark VBG cord-014712-5u4e00q6 753 22 those those DT cord-014712-5u4e00q6 753 23 cells cell NNS cord-014712-5u4e00q6 753 24 with with IN cord-014712-5u4e00q6 753 25 molecules molecule NNS cord-014712-5u4e00q6 753 26 that that WDT cord-014712-5u4e00q6 753 27 can can MD cord-014712-5u4e00q6 753 28 identify identify VB cord-014712-5u4e00q6 753 29 the the DT cord-014712-5u4e00q6 753 30 different different JJ cord-014712-5u4e00q6 753 31 types type NNS cord-014712-5u4e00q6 753 32 . . . cord-014712-5u4e00q6 754 1 A a DT cord-014712-5u4e00q6 754 2 commonly commonly RB cord-014712-5u4e00q6 754 3 used use VBN cord-014712-5u4e00q6 754 4 test test NN cord-014712-5u4e00q6 754 5 is be VBZ cord-014712-5u4e00q6 754 6 called call VBN cord-014712-5u4e00q6 754 7 flow flow NN cord-014712-5u4e00q6 754 8 cytometry cytometry NN cord-014712-5u4e00q6 754 9 that that WDT cord-014712-5u4e00q6 754 10 can can MD cord-014712-5u4e00q6 754 11 identify identify VB cord-014712-5u4e00q6 754 12 B b NN cord-014712-5u4e00q6 754 13 - - HYPH cord-014712-5u4e00q6 754 14 cells cell NNS cord-014712-5u4e00q6 754 15 and and CC cord-014712-5u4e00q6 754 16 T T NNP cord-014712-5u4e00q6 754 17 Cells cell NNS cord-014712-5u4e00q6 754 18 present present JJ cord-014712-5u4e00q6 754 19 in in IN cord-014712-5u4e00q6 754 20 the the DT cord-014712-5u4e00q6 754 21 circulation circulation NN cord-014712-5u4e00q6 754 22 . . . cord-014712-5u4e00q6 755 1 Methods method NNS cord-014712-5u4e00q6 755 2 : : : cord-014712-5u4e00q6 755 3 In in IN cord-014712-5u4e00q6 755 4 2008 2008 CD cord-014712-5u4e00q6 755 5 in in IN cord-014712-5u4e00q6 755 6 our -PRON- PRP$ cord-014712-5u4e00q6 755 7 laboratory laboratory NN cord-014712-5u4e00q6 755 8 of of IN cord-014712-5u4e00q6 755 9 Immunology Immunology NNP cord-014712-5u4e00q6 755 10 is be VBZ cord-014712-5u4e00q6 755 11 created create VBN cord-014712-5u4e00q6 755 12 the the DT cord-014712-5u4e00q6 755 13 sector sector NN cord-014712-5u4e00q6 755 14 of of IN cord-014712-5u4e00q6 755 15 examination examination NN cord-014712-5u4e00q6 755 16 for for IN cord-014712-5u4e00q6 755 17 the the DT cord-014712-5u4e00q6 755 18 PID PID NNP cord-014712-5u4e00q6 755 19 and and CC cord-014712-5u4e00q6 755 20 we -PRON- PRP cord-014712-5u4e00q6 755 21 measure measure VBP cord-014712-5u4e00q6 755 22 the the DT cord-014712-5u4e00q6 755 23 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 755 24 levels level NNS cord-014712-5u4e00q6 755 25 with with IN cord-014712-5u4e00q6 755 26 a a DT cord-014712-5u4e00q6 755 27 Beckman Beckman NNP cord-014712-5u4e00q6 755 28 Coulter Coulter NNP cord-014712-5u4e00q6 755 29 IMMAGE IMMAGE NNP cord-014712-5u4e00q6 755 30 Immunochemistry Immunochemistry NNP cord-014712-5u4e00q6 755 31 System System NNP cord-014712-5u4e00q6 755 32 fully fully RB cord-014712-5u4e00q6 755 33 automated automate VBD cord-014712-5u4e00q6 755 34 rate rate NN cord-014712-5u4e00q6 755 35 turbidometry turbidometry NN cord-014712-5u4e00q6 755 36 and and CC cord-014712-5u4e00q6 755 37 rate rate NNP cord-014712-5u4e00q6 755 38 nephelometry nephelometry NNP cord-014712-5u4e00q6 755 39 method method NN cord-014712-5u4e00q6 755 40 . . . cord-014712-5u4e00q6 756 1 We -PRON- PRP cord-014712-5u4e00q6 756 2 have have VBP cord-014712-5u4e00q6 756 3 determine determine VB cord-014712-5u4e00q6 756 4 the the DT cord-014712-5u4e00q6 756 5 aged age VBN cord-014712-5u4e00q6 756 6 - - HYPH cord-014712-5u4e00q6 756 7 matched match VBN cord-014712-5u4e00q6 756 8 levels level NNS cord-014712-5u4e00q6 756 9 of of IN cord-014712-5u4e00q6 756 10 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 756 11 in in IN cord-014712-5u4e00q6 756 12 our -PRON- PRP$ cord-014712-5u4e00q6 756 13 laboratory laboratory NN cord-014712-5u4e00q6 756 14 . . . cord-014712-5u4e00q6 757 1 We -PRON- PRP cord-014712-5u4e00q6 757 2 have have VBP cord-014712-5u4e00q6 757 3 install install VBN cord-014712-5u4e00q6 757 4 also also RB cord-014712-5u4e00q6 757 5 a a DT cord-014712-5u4e00q6 757 6 new new JJ cord-014712-5u4e00q6 757 7 flow flow NN cord-014712-5u4e00q6 757 8 Cytometer Cytometer NNP cord-014712-5u4e00q6 757 9 of of IN cord-014712-5u4e00q6 757 10 Beckman Beckman NNP cord-014712-5u4e00q6 757 11 Coulter Coulter NNP cord-014712-5u4e00q6 757 12 company company NN cord-014712-5u4e00q6 758 1 and and CC cord-014712-5u4e00q6 758 2 we -PRON- PRP cord-014712-5u4e00q6 758 3 can can MD cord-014712-5u4e00q6 758 4 determine determine VB cord-014712-5u4e00q6 758 5 the the DT cord-014712-5u4e00q6 758 6 B b NN cord-014712-5u4e00q6 758 7 Cells cell NNS cord-014712-5u4e00q6 758 8 by by IN cord-014712-5u4e00q6 758 9 CD19 CD19 NNP cord-014712-5u4e00q6 758 10 marker marker NN cord-014712-5u4e00q6 758 11 and and CC cord-014712-5u4e00q6 758 12 T t NN cord-014712-5u4e00q6 758 13 cell cell NN cord-014712-5u4e00q6 758 14 with with IN cord-014712-5u4e00q6 758 15 CD3 CD3 NNP cord-014712-5u4e00q6 758 16 , , , cord-014712-5u4e00q6 758 17 CD4 CD4 NNP cord-014712-5u4e00q6 758 18 and and CC cord-014712-5u4e00q6 758 19 CD8 CD8 NNP cord-014712-5u4e00q6 758 20 marker marker NN cord-014712-5u4e00q6 758 21 . . . cord-014712-5u4e00q6 759 1 This this DT cord-014712-5u4e00q6 759 2 examinations examination NNS cord-014712-5u4e00q6 759 3 has have VBZ cord-014712-5u4e00q6 759 4 been be VBN cord-014712-5u4e00q6 759 5 of of IN cord-014712-5u4e00q6 759 6 great great JJ cord-014712-5u4e00q6 759 7 help help NN cord-014712-5u4e00q6 759 8 in in IN cord-014712-5u4e00q6 759 9 diagnosis diagnosis NN cord-014712-5u4e00q6 759 10 of of IN cord-014712-5u4e00q6 759 11 primary primary JJ cord-014712-5u4e00q6 759 12 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 759 13 . . . cord-014712-5u4e00q6 760 1 Results result NNS cord-014712-5u4e00q6 760 2 : : : cord-014712-5u4e00q6 761 1 In in IN cord-014712-5u4e00q6 761 2 years year NNS cord-014712-5u4e00q6 761 3 2010 2010 CD cord-014712-5u4e00q6 761 4 - - SYM cord-014712-5u4e00q6 761 5 2013 2013 CD cord-014712-5u4e00q6 761 6 from from IN cord-014712-5u4e00q6 761 7 the the DT cord-014712-5u4e00q6 761 8 examination examination NN cord-014712-5u4e00q6 761 9 of of IN cord-014712-5u4e00q6 761 10 children child NNS cord-014712-5u4e00q6 761 11 aged age VBN cord-014712-5u4e00q6 761 12 from from IN cord-014712-5u4e00q6 761 13 0 0 CD cord-014712-5u4e00q6 761 14 - - SYM cord-014712-5u4e00q6 761 15 14 14 CD cord-014712-5u4e00q6 761 16 years year NNS cord-014712-5u4e00q6 761 17 old old JJ cord-014712-5u4e00q6 761 18 reported report VBD cord-014712-5u4e00q6 761 19 in in IN cord-014712-5u4e00q6 761 20 our -PRON- PRP$ cord-014712-5u4e00q6 761 21 laboratory laboratory NN cord-014712-5u4e00q6 761 22 for for IN cord-014712-5u4e00q6 761 23 immunological immunological JJ cord-014712-5u4e00q6 761 24 examination examination NN cord-014712-5u4e00q6 761 25 from from IN cord-014712-5u4e00q6 761 26 the the DT cord-014712-5u4e00q6 761 27 pediatric pediatric JJ cord-014712-5u4e00q6 761 28 department department NN cord-014712-5u4e00q6 761 29 of of IN cord-014712-5u4e00q6 761 30 UHC UHC NNP cord-014712-5u4e00q6 761 31 Mother Mother NNP cord-014712-5u4e00q6 761 32 Teresa Teresa NNP cord-014712-5u4e00q6 761 33 in in IN cord-014712-5u4e00q6 761 34 Tirana Tirana NNP cord-014712-5u4e00q6 761 35 we -PRON- PRP cord-014712-5u4e00q6 761 36 have have VBP cord-014712-5u4e00q6 761 37 selected select VBN cord-014712-5u4e00q6 761 38 41 41 CD cord-014712-5u4e00q6 761 39 cases case NNS cord-014712-5u4e00q6 761 40 with with IN cord-014712-5u4e00q6 761 41 disorders disorder NNS cord-014712-5u4e00q6 761 42 regarding regard VBG cord-014712-5u4e00q6 761 43 the the DT cord-014712-5u4e00q6 761 44 primary primary JJ cord-014712-5u4e00q6 761 45 immune immune JJ cord-014712-5u4e00q6 761 46 deficiencies deficiency NNS cord-014712-5u4e00q6 761 47 . . . cord-014712-5u4e00q6 762 1 We -PRON- PRP cord-014712-5u4e00q6 762 2 have have VBP cord-014712-5u4e00q6 762 3 5 5 CD cord-014712-5u4e00q6 762 4 cases case NNS cord-014712-5u4e00q6 762 5 ( ( -LRB- cord-014712-5u4e00q6 762 6 3 3 CD cord-014712-5u4e00q6 762 7 cases case NNS cord-014712-5u4e00q6 762 8 reported report VBN cord-014712-5u4e00q6 762 9 in in IN cord-014712-5u4e00q6 762 10 2008 2008 CD cord-014712-5u4e00q6 762 11 - - SYM cord-014712-5u4e00q6 762 12 2009 2009 CD cord-014712-5u4e00q6 762 13 and and CC cord-014712-5u4e00q6 762 14 2 2 CD cord-014712-5u4e00q6 762 15 new new JJ cord-014712-5u4e00q6 762 16 cases case NNS cord-014712-5u4e00q6 762 17 ) ) -RRB- cord-014712-5u4e00q6 762 18 with with IN cord-014712-5u4e00q6 762 19 nul nul NNP cord-014712-5u4e00q6 762 20 B B NNP cord-014712-5u4e00q6 762 21 cell cell NN cord-014712-5u4e00q6 762 22 in in IN cord-014712-5u4e00q6 762 23 Cytoflorometry Cytoflorometry NNP cord-014712-5u4e00q6 762 24 ( ( -LRB- cord-014712-5u4e00q6 762 25 B b NN cord-014712-5u4e00q6 762 26 Cd19 Cd19 NNP cord-014712-5u4e00q6 762 27 cell cell NN cord-014712-5u4e00q6 762 28 = = SYM cord-014712-5u4e00q6 762 29 0 0 CD cord-014712-5u4e00q6 762 30 % % NN cord-014712-5u4e00q6 762 31 ) ) -RRB- cord-014712-5u4e00q6 762 32 . . . cord-014712-5u4e00q6 763 1 The the DT cord-014712-5u4e00q6 763 2 level level NN cord-014712-5u4e00q6 763 3 of of IN cord-014712-5u4e00q6 763 4 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 763 5 was be VBD cord-014712-5u4e00q6 763 6 indetectable indetectable JJ cord-014712-5u4e00q6 763 7 for for IN cord-014712-5u4e00q6 763 8 IgG IgG NNP cord-014712-5u4e00q6 763 9 , , , cord-014712-5u4e00q6 763 10 IgA IgA NNP cord-014712-5u4e00q6 763 11 and and CC cord-014712-5u4e00q6 763 12 IgM IgM NNP cord-014712-5u4e00q6 763 13 in in IN cord-014712-5u4e00q6 763 14 the the DT cord-014712-5u4e00q6 763 15 moment moment NN cord-014712-5u4e00q6 763 16 of of IN cord-014712-5u4e00q6 763 17 diagnosis diagnosis NN cord-014712-5u4e00q6 763 18 . . . cord-014712-5u4e00q6 764 1 They -PRON- PRP cord-014712-5u4e00q6 764 2 were be VBD cord-014712-5u4e00q6 765 1 boys boy NNS cord-014712-5u4e00q6 765 2 and and CC cord-014712-5u4e00q6 765 3 the the DT cord-014712-5u4e00q6 765 4 age age NN cord-014712-5u4e00q6 765 5 at at IN cord-014712-5u4e00q6 765 6 diagnosis diagnosis NN cord-014712-5u4e00q6 765 7 was be VBD cord-014712-5u4e00q6 765 8 3 3 CD cord-014712-5u4e00q6 765 9 and and CC cord-014712-5u4e00q6 765 10 4 4 CD cord-014712-5u4e00q6 765 11 years year NNS cord-014712-5u4e00q6 766 1 and and CC cord-014712-5u4e00q6 766 2 actually actually RB cord-014712-5u4e00q6 766 3 they -PRON- PRP cord-014712-5u4e00q6 766 4 are be VBP cord-014712-5u4e00q6 766 5 4 4 CD cord-014712-5u4e00q6 766 6 and and CC cord-014712-5u4e00q6 766 7 6 6 CD cord-014712-5u4e00q6 766 8 years year NNS cord-014712-5u4e00q6 766 9 treated treat VBN cord-014712-5u4e00q6 766 10 with with IN cord-014712-5u4e00q6 766 11 IVIG IVIG NNP cord-014712-5u4e00q6 766 12 . . . cord-014712-5u4e00q6 767 1 We -PRON- PRP cord-014712-5u4e00q6 767 2 have have VBP cord-014712-5u4e00q6 767 3 classified classify VBN cord-014712-5u4e00q6 767 4 them -PRON- PRP cord-014712-5u4e00q6 767 5 as as IN cord-014712-5u4e00q6 767 6 Bruton Bruton NNP cord-014712-5u4e00q6 767 7 ( ( -LRB- cord-014712-5u4e00q6 767 8 XLA XLA NNP cord-014712-5u4e00q6 767 9 ) ) -RRB- cord-014712-5u4e00q6 767 10 . . . cord-014712-5u4e00q6 768 1 We -PRON- PRP cord-014712-5u4e00q6 768 2 have have VBP cord-014712-5u4e00q6 768 3 12 12 CD cord-014712-5u4e00q6 768 4 case case NN cord-014712-5u4e00q6 768 5 with with IN cord-014712-5u4e00q6 768 6 low low JJ cord-014712-5u4e00q6 768 7 Cd19 Cd19 NNP cord-014712-5u4e00q6 768 8 B b NN cord-014712-5u4e00q6 768 9 - - HYPH cord-014712-5u4e00q6 768 10 cell cell NN cord-014712-5u4e00q6 768 11 in in IN cord-014712-5u4e00q6 768 12 circulation circulation NN cord-014712-5u4e00q6 768 13 but but CC cord-014712-5u4e00q6 768 14 only only RB cord-014712-5u4e00q6 768 15 in in IN cord-014712-5u4e00q6 768 16 4 4 CD cord-014712-5u4e00q6 768 17 of of IN cord-014712-5u4e00q6 768 18 them -PRON- PRP cord-014712-5u4e00q6 768 19 we -PRON- PRP cord-014712-5u4e00q6 768 20 have have VBP cord-014712-5u4e00q6 768 21 done do VBN cord-014712-5u4e00q6 768 22 the the DT cord-014712-5u4e00q6 768 23 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 768 24 level level NN cord-014712-5u4e00q6 768 25 . . . cord-014712-5u4e00q6 769 1 The the DT cord-014712-5u4e00q6 769 2 low low JJ cord-014712-5u4e00q6 769 3 level level NN cord-014712-5u4e00q6 769 4 of of IN cord-014712-5u4e00q6 769 5 Cd19 Cd19 NNP cord-014712-5u4e00q6 769 6 B b NN cord-014712-5u4e00q6 769 7 cell cell NN cord-014712-5u4e00q6 769 8 is be VBZ cord-014712-5u4e00q6 769 9 accompanied accompany VBN cord-014712-5u4e00q6 769 10 with with IN cord-014712-5u4e00q6 769 11 different different JJ cord-014712-5u4e00q6 769 12 kind kind NN cord-014712-5u4e00q6 769 13 of of IN cord-014712-5u4e00q6 769 14 hypoglobulinemies hypoglobulinemie NNS cord-014712-5u4e00q6 769 15 : : : cord-014712-5u4e00q6 769 16 1Common 1common CD cord-014712-5u4e00q6 769 17 Variable variable JJ cord-014712-5u4e00q6 769 18 Immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 769 19 CVID CVID NNP cord-014712-5u4e00q6 769 20 , , , cord-014712-5u4e00q6 769 21 1 1 CD cord-014712-5u4e00q6 769 22 with with IN cord-014712-5u4e00q6 769 23 isolated isolate VBN cord-014712-5u4e00q6 769 24 IgA IgA NNP cord-014712-5u4e00q6 769 25 deficiency deficiency NN cord-014712-5u4e00q6 769 26 , , , cord-014712-5u4e00q6 769 27 1 1 CD cord-014712-5u4e00q6 769 28 with with IN cord-014712-5u4e00q6 769 29 IgG IgG NNP cord-014712-5u4e00q6 769 30 deficiency deficiency NN cord-014712-5u4e00q6 769 31 and and CC cord-014712-5u4e00q6 769 32 1 1 CD cord-014712-5u4e00q6 769 33 with with IN cord-014712-5u4e00q6 769 34 both both CC cord-014712-5u4e00q6 769 35 IgG IgG NNP cord-014712-5u4e00q6 769 36 + + SYM cord-014712-5u4e00q6 769 37 IgM IgM NNP cord-014712-5u4e00q6 769 38 deficiency deficiency NN cord-014712-5u4e00q6 769 39 . . . cord-014712-5u4e00q6 770 1 The the DT cord-014712-5u4e00q6 770 2 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 770 3 disorders disorder NNS cord-014712-5u4e00q6 770 4 : : : cord-014712-5u4e00q6 770 5 we -PRON- PRP cord-014712-5u4e00q6 770 6 have have VBP cord-014712-5u4e00q6 770 7 classified classify VBN cord-014712-5u4e00q6 770 8 them -PRON- PRP cord-014712-5u4e00q6 770 9 according accord VBG cord-014712-5u4e00q6 770 10 the the DT cord-014712-5u4e00q6 770 11 antibody antibody NN cord-014712-5u4e00q6 770 12 deficiencies deficiency NNS cord-014712-5u4e00q6 770 13 ( ( -LRB- cord-014712-5u4e00q6 770 14 tab1 tab1 NN cord-014712-5u4e00q6 770 15 ) ) -RRB- cord-014712-5u4e00q6 770 16 and and CC cord-014712-5u4e00q6 770 17 we -PRON- PRP cord-014712-5u4e00q6 770 18 noted note VBD cord-014712-5u4e00q6 770 19 that that IN cord-014712-5u4e00q6 770 20 the the DT cord-014712-5u4e00q6 770 21 most most RBS cord-014712-5u4e00q6 770 22 frequent frequent JJ cord-014712-5u4e00q6 770 23 one one NN cord-014712-5u4e00q6 770 24 is be VBZ cord-014712-5u4e00q6 770 25 the the DT cord-014712-5u4e00q6 770 26 deficiency deficiency NN cord-014712-5u4e00q6 770 27 of of IN cord-014712-5u4e00q6 770 28 IgA IgA NNP cord-014712-5u4e00q6 770 29 ( ( -LRB- cord-014712-5u4e00q6 770 30 12/19 12/19 CD cord-014712-5u4e00q6 770 31 or or CC cord-014712-5u4e00q6 770 32 63.2 63.2 CD cord-014712-5u4e00q6 770 33 % % NN cord-014712-5u4e00q6 770 34 -from -from NN cord-014712-5u4e00q6 770 35 which which WDT cord-014712-5u4e00q6 770 36 6 6 CD cord-014712-5u4e00q6 770 37 IgA IgA NNP cord-014712-5u4e00q6 770 38 isolated isolate VBN cord-014712-5u4e00q6 770 39 , , , cord-014712-5u4e00q6 770 40 5 5 CD cord-014712-5u4e00q6 770 41 accompanied accompany VBN cord-014712-5u4e00q6 770 42 with with IN cord-014712-5u4e00q6 770 43 low low JJ cord-014712-5u4e00q6 770 44 IgM IgM NNP cord-014712-5u4e00q6 770 45 and and CC cord-014712-5u4e00q6 770 46 1 1 CD cord-014712-5u4e00q6 770 47 with with IN cord-014712-5u4e00q6 770 48 low low JJ cord-014712-5u4e00q6 770 49 IgG igg NN cord-014712-5u4e00q6 770 50 ) ) -RRB- cord-014712-5u4e00q6 770 51 with with IN cord-014712-5u4e00q6 770 52 average average JJ cord-014712-5u4e00q6 770 53 age age NN cord-014712-5u4e00q6 770 54 at at IN cord-014712-5u4e00q6 770 55 diagnosis diagnosis NN cord-014712-5u4e00q6 770 56 5.09 5.09 CD cord-014712-5u4e00q6 770 57 years year NNS cord-014712-5u4e00q6 770 58 old old JJ cord-014712-5u4e00q6 770 59 . . . cord-014712-5u4e00q6 771 1 In in IN cord-014712-5u4e00q6 771 2 children child NNS cord-014712-5u4e00q6 771 3 in in IN cord-014712-5u4e00q6 771 4 the the DT cord-014712-5u4e00q6 771 5 first first JJ cord-014712-5u4e00q6 771 6 years year NNS cord-014712-5u4e00q6 771 7 of of IN cord-014712-5u4e00q6 771 8 live live JJ cord-014712-5u4e00q6 771 9 aged age VBN cord-014712-5u4e00q6 771 10 from from IN cord-014712-5u4e00q6 771 11 0.8 0.8 CD cord-014712-5u4e00q6 771 12 to to TO cord-014712-5u4e00q6 771 13 2 2 CD cord-014712-5u4e00q6 771 14 years year NNS cord-014712-5u4e00q6 771 15 old old JJ cord-014712-5u4e00q6 771 16 we -PRON- PRP cord-014712-5u4e00q6 771 17 found find VBD cord-014712-5u4e00q6 771 18 8 8 CD cord-014712-5u4e00q6 771 19 case case NN cord-014712-5u4e00q6 771 20 with with IN cord-014712-5u4e00q6 771 21 transient transient JJ cord-014712-5u4e00q6 771 22 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 771 23 of of IN cord-014712-5u4e00q6 771 24 infancy infancy NN cord-014712-5u4e00q6 771 25 . . . cord-014712-5u4e00q6 772 1 According accord VBG cord-014712-5u4e00q6 772 2 this this DT cord-014712-5u4e00q6 772 3 survey survey NN cord-014712-5u4e00q6 772 4 we -PRON- PRP cord-014712-5u4e00q6 772 5 can can MD cord-014712-5u4e00q6 772 6 report report VB cord-014712-5u4e00q6 772 7 our -PRON- PRP$ cord-014712-5u4e00q6 772 8 92 92 CD cord-014712-5u4e00q6 772 9 cases case NNS cord-014712-5u4e00q6 772 10 of of IN cord-014712-5u4e00q6 772 11 primary primary JJ cord-014712-5u4e00q6 772 12 immunodefiecies immunodefiecie NNS cord-014712-5u4e00q6 772 13 in in IN cord-014712-5u4e00q6 772 14 UHC UHC NNP cord-014712-5u4e00q6 772 15 Mother Mother NNP cord-014712-5u4e00q6 772 16 Teresa Teresa NNP cord-014712-5u4e00q6 772 17 of of IN cord-014712-5u4e00q6 772 18 Tirana Tirana NNP cord-014712-5u4e00q6 772 19 with with IN cord-014712-5u4e00q6 772 20 different different JJ cord-014712-5u4e00q6 772 21 classification classification NN cord-014712-5u4e00q6 772 22 Conclusion conclusion NN cord-014712-5u4e00q6 772 23 : : : cord-014712-5u4e00q6 772 24 The the DT cord-014712-5u4e00q6 772 25 finding finding NN cord-014712-5u4e00q6 772 26 are be VBP cord-014712-5u4e00q6 772 27 to to TO cord-014712-5u4e00q6 772 28 be be VB cord-014712-5u4e00q6 772 29 completed complete VBN cord-014712-5u4e00q6 772 30 with with IN cord-014712-5u4e00q6 772 31 other other JJ cord-014712-5u4e00q6 772 32 cases case NNS cord-014712-5u4e00q6 772 33 in in IN cord-014712-5u4e00q6 772 34 Albania Albania NNP cord-014712-5u4e00q6 773 1 and and CC cord-014712-5u4e00q6 773 2 it -PRON- PRP cord-014712-5u4e00q6 773 3 is be VBZ cord-014712-5u4e00q6 773 4 necessary necessary JJ cord-014712-5u4e00q6 773 5 to to TO cord-014712-5u4e00q6 773 6 do do VB cord-014712-5u4e00q6 773 7 the the DT cord-014712-5u4e00q6 773 8 national national JJ cord-014712-5u4e00q6 773 9 register register NN cord-014712-5u4e00q6 773 10 for for IN cord-014712-5u4e00q6 773 11 PID PID NNP cord-014712-5u4e00q6 773 12 in in IN cord-014712-5u4e00q6 773 13 order order NN cord-014712-5u4e00q6 773 14 to to TO cord-014712-5u4e00q6 773 15 estimate estimate VB cord-014712-5u4e00q6 773 16 exactly exactly RB cord-014712-5u4e00q6 773 17 the the DT cord-014712-5u4e00q6 773 18 prevalence prevalence NN cord-014712-5u4e00q6 773 19 of of IN cord-014712-5u4e00q6 773 20 this this DT cord-014712-5u4e00q6 773 21 disorders disorder NNS cord-014712-5u4e00q6 773 22 in in IN cord-014712-5u4e00q6 773 23 our -PRON- PRP$ cord-014712-5u4e00q6 773 24 country country NN cord-014712-5u4e00q6 773 25 . . . cord-014712-5u4e00q6 774 1 Nyíregyháza Nyíregyháza NNP cord-014712-5u4e00q6 774 2 - - HYPH cord-014712-5u4e00q6 774 3 Debrecen Debrecen NNP cord-014712-5u4e00q6 774 4 , , , cord-014712-5u4e00q6 774 5 Hungary Hungary NNP cord-014712-5u4e00q6 775 1 The the DT cord-014712-5u4e00q6 775 2 STAT3 STAT3 NNP cord-014712-5u4e00q6 775 3 mutation mutation NN cord-014712-5u4e00q6 775 4 was be VBD cord-014712-5u4e00q6 775 5 confirmed confirm VBN cord-014712-5u4e00q6 775 6 in in IN cord-014712-5u4e00q6 775 7 2007 2007 CD cord-014712-5u4e00q6 775 8 as as IN cord-014712-5u4e00q6 775 9 the the DT cord-014712-5u4e00q6 775 10 cause cause NN cord-014712-5u4e00q6 775 11 of of IN cord-014712-5u4e00q6 775 12 autosomal autosomal JJ cord-014712-5u4e00q6 775 13 dominant dominant JJ cord-014712-5u4e00q6 775 14 hyper hyper NNP cord-014712-5u4e00q6 775 15 - - HYPH cord-014712-5u4e00q6 775 16 IgE ige JJ cord-014712-5u4e00q6 775 17 syndrome syndrome NN cord-014712-5u4e00q6 775 18 ( ( -LRB- cord-014712-5u4e00q6 775 19 AD ad NN cord-014712-5u4e00q6 775 20 - - HYPH cord-014712-5u4e00q6 775 21 HIES HIES NNP cord-014712-5u4e00q6 775 22 ) ) -RRB- cord-014712-5u4e00q6 775 23 . . . cord-014712-5u4e00q6 776 1 The the DT cord-014712-5u4e00q6 776 2 disease disease NN cord-014712-5u4e00q6 776 3 , , , cord-014712-5u4e00q6 776 4 which which WDT cord-014712-5u4e00q6 776 5 also also RB cord-014712-5u4e00q6 776 6 mentioned mention VBD cord-014712-5u4e00q6 776 7 in in IN cord-014712-5u4e00q6 776 8 the the DT cord-014712-5u4e00q6 776 9 literature literature NN cord-014712-5u4e00q6 776 10 as as IN cord-014712-5u4e00q6 776 11 Job Job NNP cord-014712-5u4e00q6 776 12 's 's POS cord-014712-5u4e00q6 776 13 syndrome syndrome NN cord-014712-5u4e00q6 776 14 , , , cord-014712-5u4e00q6 776 15 is be VBZ cord-014712-5u4e00q6 776 16 a a DT cord-014712-5u4e00q6 776 17 rare rare JJ cord-014712-5u4e00q6 776 18 primary primary JJ cord-014712-5u4e00q6 776 19 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 776 20 . . . cord-014712-5u4e00q6 777 1 This this DT cord-014712-5u4e00q6 777 2 disease disease NN cord-014712-5u4e00q6 777 3 can can MD cord-014712-5u4e00q6 777 4 be be VB cord-014712-5u4e00q6 777 5 characterized characterize VBN cord-014712-5u4e00q6 777 6 by by IN cord-014712-5u4e00q6 777 7 the the DT cord-014712-5u4e00q6 777 8 following follow VBG cord-014712-5u4e00q6 777 9 classic classic JJ cord-014712-5u4e00q6 777 10 triad triad NN cord-014712-5u4e00q6 777 11 : : : cord-014712-5u4e00q6 777 12 recurrent recurrent JJ cord-014712-5u4e00q6 777 13 purulent purulent JJ cord-014712-5u4e00q6 777 14 skin skin NN cord-014712-5u4e00q6 777 15 infections infection NNS cord-014712-5u4e00q6 777 16 , , , cord-014712-5u4e00q6 777 17 cold cold JJ cord-014712-5u4e00q6 777 18 abscessus abscessus NN cord-014712-5u4e00q6 777 19 which which WDT cord-014712-5u4e00q6 777 20 are be VBP cord-014712-5u4e00q6 777 21 formed form VBN cord-014712-5u4e00q6 777 22 in in IN cord-014712-5u4e00q6 777 23 the the DT cord-014712-5u4e00q6 777 24 ground ground NN cord-014712-5u4e00q6 777 25 of of IN cord-014712-5u4e00q6 777 26 chronic chronic JJ cord-014712-5u4e00q6 777 27 ekcematoid ekcematoid NNP cord-014712-5u4e00q6 777 28 dermatitis dermatitis NN cord-014712-5u4e00q6 777 29 , , , cord-014712-5u4e00q6 777 30 pneumatocele pneumatocele NNP cord-014712-5u4e00q6 777 31 , , , cord-014712-5u4e00q6 777 32 formation formation NN cord-014712-5u4e00q6 777 33 causing cause VBG cord-014712-5u4e00q6 777 34 pneumonia pneumonia NN cord-014712-5u4e00q6 777 35 and and CC cord-014712-5u4e00q6 777 36 extremely extremely RB cord-014712-5u4e00q6 777 37 high high JJ cord-014712-5u4e00q6 777 38 IgE ige NN cord-014712-5u4e00q6 777 39 level level NN cord-014712-5u4e00q6 777 40 . . . cord-014712-5u4e00q6 778 1 Dental dental JJ cord-014712-5u4e00q6 778 2 training training NN cord-014712-5u4e00q6 778 3 interdependency interdependency NN cord-014712-5u4e00q6 778 4 as as RB cord-014712-5u4e00q6 778 5 well well RB cord-014712-5u4e00q6 778 6 as as IN cord-014712-5u4e00q6 778 7 bone bone NN cord-014712-5u4e00q6 778 8 and and CC cord-014712-5u4e00q6 778 9 connective connective JJ cord-014712-5u4e00q6 778 10 tissue tissue NN cord-014712-5u4e00q6 778 11 disorders disorder NNS cord-014712-5u4e00q6 778 12 frequently frequently RB cord-014712-5u4e00q6 778 13 occur occur VBP cord-014712-5u4e00q6 778 14 in in IN cord-014712-5u4e00q6 778 15 the the DT cord-014712-5u4e00q6 778 16 nonimmunological nonimmunological JJ cord-014712-5u4e00q6 778 17 symptoms symptom NNS cord-014712-5u4e00q6 778 18 as as IN cord-014712-5u4e00q6 778 19 multi multi JJ cord-014712-5u4e00q6 778 20 - - JJ cord-014712-5u4e00q6 778 21 systemic systemic JJ cord-014712-5u4e00q6 778 22 disease disease NN cord-014712-5u4e00q6 778 23 . . . cord-014712-5u4e00q6 779 1 The the DT cord-014712-5u4e00q6 779 2 STAT stat NN cord-014712-5u4e00q6 779 3 3 3 CD cord-014712-5u4e00q6 779 4 protein protein NN cord-014712-5u4e00q6 779 5 has have VBZ cord-014712-5u4e00q6 779 6 an an DT cord-014712-5u4e00q6 779 7 important important JJ cord-014712-5u4e00q6 779 8 role role NN cord-014712-5u4e00q6 779 9 in in IN cord-014712-5u4e00q6 779 10 the the DT cord-014712-5u4e00q6 779 11 area area NN cord-014712-5u4e00q6 779 12 of of IN cord-014712-5u4e00q6 779 13 wound wound NN cord-014712-5u4e00q6 779 14 healing healing NN cord-014712-5u4e00q6 779 15 , , , cord-014712-5u4e00q6 779 16 immunity immunity NN cord-014712-5u4e00q6 779 17 , , , cord-014712-5u4e00q6 779 18 tumor tumor NN cord-014712-5u4e00q6 779 19 and and CC cord-014712-5u4e00q6 779 20 neovascularization neovascularization NN cord-014712-5u4e00q6 779 21 . . . cord-014712-5u4e00q6 780 1 We -PRON- PRP cord-014712-5u4e00q6 780 2 would would MD cord-014712-5u4e00q6 780 3 like like VB cord-014712-5u4e00q6 780 4 to to TO cord-014712-5u4e00q6 780 5 show show VB cord-014712-5u4e00q6 780 6 this this DT cord-014712-5u4e00q6 780 7 in in IN cord-014712-5u4e00q6 780 8 case case NN cord-014712-5u4e00q6 780 9 of of IN cord-014712-5u4e00q6 780 10 3-years 3-years CD cord-014712-5u4e00q6 780 11 old old JJ cord-014712-5u4e00q6 780 12 Kitti Kitti NNP cord-014712-5u4e00q6 780 13 whom whom WP cord-014712-5u4e00q6 780 14 the the DT cord-014712-5u4e00q6 780 15 perinatal perinatal JJ cord-014712-5u4e00q6 780 16 medical medical JJ cord-014712-5u4e00q6 780 17 history history NN cord-014712-5u4e00q6 780 18 was be VBD cord-014712-5u4e00q6 780 19 eventless eventless JJ cord-014712-5u4e00q6 780 20 . . . cord-014712-5u4e00q6 781 1 There there EX cord-014712-5u4e00q6 781 2 is be VBZ cord-014712-5u4e00q6 781 3 a a DT cord-014712-5u4e00q6 781 4 frequent frequent JJ cord-014712-5u4e00q6 781 5 hospitalization hospitalization NN cord-014712-5u4e00q6 781 6 in in IN cord-014712-5u4e00q6 781 7 Kitti Kitti NNP cord-014712-5u4e00q6 781 8 's 's POS cord-014712-5u4e00q6 781 9 case case NN cord-014712-5u4e00q6 781 10 history history NN cord-014712-5u4e00q6 781 11 since since IN cord-014712-5u4e00q6 781 12 her -PRON- PRP$ cord-014712-5u4e00q6 781 13 infancy infancy NN cord-014712-5u4e00q6 781 14 . . . cord-014712-5u4e00q6 782 1 Due due IN cord-014712-5u4e00q6 782 2 to to IN cord-014712-5u4e00q6 782 3 the the DT cord-014712-5u4e00q6 782 4 age age NN cord-014712-5u4e00q6 782 5 of of IN cord-014712-5u4e00q6 782 6 three three CD cord-014712-5u4e00q6 782 7 months month NNS cord-014712-5u4e00q6 782 8 because because IN cord-014712-5u4e00q6 782 9 of of IN cord-014712-5u4e00q6 782 10 serious serious JJ cord-014712-5u4e00q6 782 11 exsiccotoxicosis exsiccotoxicosis NN cord-014712-5u4e00q6 782 12 , , , cord-014712-5u4e00q6 782 13 5 5 CD cord-014712-5u4e00q6 782 14 months month NNS cord-014712-5u4e00q6 782 15 old old JJ cord-014712-5u4e00q6 782 16 bilateral bilateral JJ cord-014712-5u4e00q6 782 17 bronchopneumonia bronchopneumonia NN cord-014712-5u4e00q6 782 18 and and CC cord-014712-5u4e00q6 782 19 pleurisy pleurisy NN cord-014712-5u4e00q6 782 20 required require VBD cord-014712-5u4e00q6 782 21 ICU ICU NNP cord-014712-5u4e00q6 782 22 care care NN cord-014712-5u4e00q6 782 23 . . . cord-014712-5u4e00q6 783 1 Bronchoscopy Bronchoscopy NNP cord-014712-5u4e00q6 783 2 was be VBD cord-014712-5u4e00q6 783 3 made make VBN cord-014712-5u4e00q6 783 4 because because IN cord-014712-5u4e00q6 783 5 of of IN cord-014712-5u4e00q6 783 6 recurrent recurrent JJ cord-014712-5u4e00q6 783 7 pneumonia pneumonia NN cord-014712-5u4e00q6 783 8 , , , cord-014712-5u4e00q6 783 9 which which WDT cord-014712-5u4e00q6 783 10 excluded exclude VBD cord-014712-5u4e00q6 783 11 the the DT cord-014712-5u4e00q6 783 12 bronchial bronchial JJ cord-014712-5u4e00q6 783 13 malformation malformation NN cord-014712-5u4e00q6 783 14 . . . cord-014712-5u4e00q6 784 1 Lately lately RB cord-014712-5u4e00q6 784 2 rather rather RB cord-014712-5u4e00q6 784 3 otitis otitis NN cord-014712-5u4e00q6 784 4 , , , cord-014712-5u4e00q6 784 5 mastoiditis mastoiditis NNP cord-014712-5u4e00q6 784 6 and and CC cord-014712-5u4e00q6 784 7 airway airway JJ cord-014712-5u4e00q6 784 8 obstructive obstructive JJ cord-014712-5u4e00q6 784 9 symptoms symptom NNS cord-014712-5u4e00q6 784 10 dominated dominate VBD cord-014712-5u4e00q6 784 11 the the DT cord-014712-5u4e00q6 784 12 clinical clinical JJ cord-014712-5u4e00q6 784 13 picture picture NN cord-014712-5u4e00q6 784 14 . . . cord-014712-5u4e00q6 785 1 From from IN cord-014712-5u4e00q6 785 2 serum serum NN cord-014712-5u4e00q6 785 3 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 785 4 - - HYPH cord-014712-5u4e00q6 785 5 IgG igg NN cord-014712-5u4e00q6 785 6 is be VBZ cord-014712-5u4e00q6 785 7 very very RB cord-014712-5u4e00q6 785 8 low low JJ cord-014712-5u4e00q6 785 9 , , , cord-014712-5u4e00q6 785 10 whereas whereas IN cord-014712-5u4e00q6 785 11 high high JJ cord-014712-5u4e00q6 785 12 levels level NNS cord-014712-5u4e00q6 785 13 of of IN cord-014712-5u4e00q6 785 14 IgEwas IgEwas NNP cord-014712-5u4e00q6 785 15 indicated indicate VBD cord-014712-5u4e00q6 785 16 . . . cord-014712-5u4e00q6 786 1 On on IN cord-014712-5u4e00q6 786 2 this this DT cord-014712-5u4e00q6 786 3 basis basis NN cord-014712-5u4e00q6 786 4 , , , cord-014712-5u4e00q6 786 5 the the DT cord-014712-5u4e00q6 786 6 diagnosis diagnosis NN cord-014712-5u4e00q6 786 7 of of IN cord-014712-5u4e00q6 786 8 Job Job NNP cord-014712-5u4e00q6 786 9 's 's POS cord-014712-5u4e00q6 786 10 syndrome syndrome NN cord-014712-5u4e00q6 786 11 was be VBD cord-014712-5u4e00q6 786 12 up up RB cord-014712-5u4e00q6 786 13 , , , cord-014712-5u4e00q6 786 14 which which WDT cord-014712-5u4e00q6 786 15 is be VBZ cord-014712-5u4e00q6 786 16 a a DT cord-014712-5u4e00q6 786 17 negative negative JJ cord-014712-5u4e00q6 786 18 STAT3 stat3 NN cord-014712-5u4e00q6 786 19 mutations mutation NNS cord-014712-5u4e00q6 786 20 as as IN cord-014712-5u4e00q6 786 21 the the DT cord-014712-5u4e00q6 786 22 molecular molecular JJ cord-014712-5u4e00q6 786 23 genetic genetic JJ cord-014712-5u4e00q6 786 24 test test NN cord-014712-5u4e00q6 786 25 performed perform VBD cord-014712-5u4e00q6 786 26 demonstrated demonstrate VBD cord-014712-5u4e00q6 786 27 . . . cord-014712-5u4e00q6 787 1 The the DT cord-014712-5u4e00q6 787 2 disease disease NN cord-014712-5u4e00q6 787 3 has have VBZ cord-014712-5u4e00q6 787 4 a a DT cord-014712-5u4e00q6 787 5 great great JJ cord-014712-5u4e00q6 787 6 clinical clinical JJ cord-014712-5u4e00q6 787 7 importance importance NN cord-014712-5u4e00q6 787 8 , , , cord-014712-5u4e00q6 787 9 since since IN cord-014712-5u4e00q6 787 10 the the DT cord-014712-5u4e00q6 787 11 risk risk NN cord-014712-5u4e00q6 787 12 of of IN cord-014712-5u4e00q6 787 13 emergence emergence NN cord-014712-5u4e00q6 787 14 of of IN cord-014712-5u4e00q6 787 15 serious serious JJ cord-014712-5u4e00q6 787 16 and and CC cord-014712-5u4e00q6 787 17 often often RB cord-014712-5u4e00q6 787 18 life life NN cord-014712-5u4e00q6 787 19 - - HYPH cord-014712-5u4e00q6 787 20 threatining threatining JJ cord-014712-5u4e00q6 787 21 complications complication NNS cord-014712-5u4e00q6 787 22 are be VBP cord-014712-5u4e00q6 787 23 high high JJ cord-014712-5u4e00q6 787 24 . . . cord-014712-5u4e00q6 788 1 Because because IN cord-014712-5u4e00q6 788 2 of of IN cord-014712-5u4e00q6 788 3 the the DT cord-014712-5u4e00q6 788 4 prevention prevention NN cord-014712-5u4e00q6 788 5 of of IN cord-014712-5u4e00q6 788 6 disseminated disseminate VBN cord-014712-5u4e00q6 788 7 infections infection NNS cord-014712-5u4e00q6 788 8 , , , cord-014712-5u4e00q6 788 9 the the DT cord-014712-5u4e00q6 788 10 early early JJ cord-014712-5u4e00q6 788 11 detection detection NN cord-014712-5u4e00q6 788 12 and and CC cord-014712-5u4e00q6 788 13 the the DT cord-014712-5u4e00q6 788 14 appropriate appropriate JJ cord-014712-5u4e00q6 788 15 treatment treatment NN cord-014712-5u4e00q6 788 16 are be VBP cord-014712-5u4e00q6 788 17 essential essential JJ cord-014712-5u4e00q6 788 18 . . . cord-014712-5u4e00q6 789 1 In in IN cord-014712-5u4e00q6 789 2 default default NN cord-014712-5u4e00q6 789 3 of of IN cord-014712-5u4e00q6 789 4 causal causal JJ cord-014712-5u4e00q6 789 5 therapy therapy NN cord-014712-5u4e00q6 789 6 , , , cord-014712-5u4e00q6 789 7 the the DT cord-014712-5u4e00q6 789 8 treatment treatment NN cord-014712-5u4e00q6 789 9 primarily primarily RB cord-014712-5u4e00q6 789 10 concern concern NN cord-014712-5u4e00q6 789 11 to to IN cord-014712-5u4e00q6 789 12 prevention prevention NN cord-014712-5u4e00q6 789 13 of of IN cord-014712-5u4e00q6 789 14 infections infection NNS cord-014712-5u4e00q6 789 15 , , , cord-014712-5u4e00q6 789 16 or or CC cord-014712-5u4e00q6 789 17 their -PRON- PRP$ cord-014712-5u4e00q6 789 18 aggressive aggressive JJ cord-014712-5u4e00q6 789 19 antibiotic antibiotic JJ cord-014712-5u4e00q6 789 20 therapy therapy NN cord-014712-5u4e00q6 789 21 . . . cord-014712-5u4e00q6 790 1 Calcium calcium NN cord-014712-5u4e00q6 790 2 and and CC cord-014712-5u4e00q6 790 3 vitamin vitamin NN cord-014712-5u4e00q6 790 4 D d NN cord-014712-5u4e00q6 790 5 and and CC cord-014712-5u4e00q6 790 6 as as RB cord-014712-5u4e00q6 790 7 well well RB cord-014712-5u4e00q6 790 8 as as IN cord-014712-5u4e00q6 790 9 histamine histamine NN cord-014712-5u4e00q6 790 10 1 1 CD cord-014712-5u4e00q6 790 11 on on IN cord-014712-5u4e00q6 790 12 the the DT cord-014712-5u4e00q6 790 13 case case NN cord-014712-5u4e00q6 790 14 of of IN cord-014712-5u4e00q6 790 15 itchy itchy JJ cord-014712-5u4e00q6 790 16 skin skin NN cord-014712-5u4e00q6 790 17 symptoms symptom NNS cord-014712-5u4e00q6 790 18 are be VBP cord-014712-5u4e00q6 790 19 reccurrended reccurrende VBN cord-014712-5u4e00q6 790 20 to to TO cord-014712-5u4e00q6 790 21 use use VB cord-014712-5u4e00q6 790 22 . . . cord-014712-5u4e00q6 791 1 Laboratory laboratory NN cord-014712-5u4e00q6 791 2 of of IN cord-014712-5u4e00q6 791 3 Molecular Molecular NNP cord-014712-5u4e00q6 791 4 Immunogenetics Immunogenetics NNP cord-014712-5u4e00q6 791 5 , , , cord-014712-5u4e00q6 791 6 Human Human NNP cord-014712-5u4e00q6 791 7 Genetics Genetics NNP cord-014712-5u4e00q6 791 8 Institute Institute NNP cord-014712-5u4e00q6 791 9 , , , cord-014712-5u4e00q6 791 10 CNRS CNRS NNP cord-014712-5u4e00q6 791 11 and and CC cord-014712-5u4e00q6 791 12 University University NNP cord-014712-5u4e00q6 791 13 Montpellier Montpellier NNP cord-014712-5u4e00q6 791 14 2 2 CD cord-014712-5u4e00q6 791 15 , , , cord-014712-5u4e00q6 791 16 Montpellier Montpellier NNP cord-014712-5u4e00q6 791 17 , , , cord-014712-5u4e00q6 791 18 France France NNP cord-014712-5u4e00q6 791 19 . . . cord-014712-5u4e00q6 792 1 We -PRON- PRP cord-014712-5u4e00q6 792 2 performed perform VBD cord-014712-5u4e00q6 792 3 clinical clinical JJ cord-014712-5u4e00q6 792 4 , , , cord-014712-5u4e00q6 792 5 immunological immunological JJ cord-014712-5u4e00q6 792 6 and and CC cord-014712-5u4e00q6 792 7 genetic genetic JJ cord-014712-5u4e00q6 792 8 studies study NNS cord-014712-5u4e00q6 792 9 of of IN cord-014712-5u4e00q6 792 10 12 12 CD cord-014712-5u4e00q6 792 11 hyper hyper NNP cord-014712-5u4e00q6 792 12 - - HYPH cord-014712-5u4e00q6 792 13 IgE ige JJ cord-014712-5u4e00q6 792 14 syndrome syndrome NN cord-014712-5u4e00q6 792 15 ( ( -LRB- cord-014712-5u4e00q6 792 16 HIES HIES NNP cord-014712-5u4e00q6 792 17 ) ) -RRB- cord-014712-5u4e00q6 792 18 patients patient NNS cord-014712-5u4e00q6 792 19 from from IN cord-014712-5u4e00q6 792 20 4 4 CD cord-014712-5u4e00q6 792 21 Hungarian hungarian JJ cord-014712-5u4e00q6 792 22 , , , cord-014712-5u4e00q6 792 23 2 2 CD cord-014712-5u4e00q6 792 24 Lebanese lebanese JJ cord-014712-5u4e00q6 792 25 , , , cord-014712-5u4e00q6 792 26 one one CD cord-014712-5u4e00q6 792 27 Russian russian JJ cord-014712-5u4e00q6 792 28 , , , cord-014712-5u4e00q6 792 29 one one CD cord-014712-5u4e00q6 792 30 Polish Polish NNP cord-014712-5u4e00q6 792 31 , , , cord-014712-5u4e00q6 792 32 and and CC cord-014712-5u4e00q6 792 33 one one CD cord-014712-5u4e00q6 792 34 Swedish swedish JJ cord-014712-5u4e00q6 792 35 families family NNS cord-014712-5u4e00q6 792 36 with with IN cord-014712-5u4e00q6 792 37 autosomal autosomal JJ cord-014712-5u4e00q6 792 38 dominant dominant JJ cord-014712-5u4e00q6 792 39 ( ( -LRB- cord-014712-5u4e00q6 792 40 AD ad NN cord-014712-5u4e00q6 792 41 ) ) -RRB- cord-014712-5u4e00q6 792 42 or or CC cord-014712-5u4e00q6 792 43 sporadic sporadic JJ cord-014712-5u4e00q6 792 44 forms form NNS cord-014712-5u4e00q6 792 45 of of IN cord-014712-5u4e00q6 792 46 the the DT cord-014712-5u4e00q6 792 47 disease disease NN cord-014712-5u4e00q6 792 48 to to TO cord-014712-5u4e00q6 792 49 reveal reveal VB cord-014712-5u4e00q6 792 50 cross cross NN cord-014712-5u4e00q6 792 51 - - JJ cord-014712-5u4e00q6 792 52 ethnicity ethnicity NN cord-014712-5u4e00q6 792 53 of of IN cord-014712-5u4e00q6 792 54 recurrent recurrent JJ cord-014712-5u4e00q6 792 55 and and CC cord-014712-5u4e00q6 792 56 novel novel NN cord-014712-5u4e00q6 792 57 mutations mutation NNS cord-014712-5u4e00q6 792 58 in in IN cord-014712-5u4e00q6 792 59 the the DT cord-014712-5u4e00q6 792 60 signal signal NN cord-014712-5u4e00q6 792 61 transducer transducer NN cord-014712-5u4e00q6 792 62 and and CC cord-014712-5u4e00q6 792 63 activator activator NN cord-014712-5u4e00q6 792 64 of of IN cord-014712-5u4e00q6 792 65 transcription-3 transcription-3 NN cord-014712-5u4e00q6 792 66 gene gene NN cord-014712-5u4e00q6 792 67 ( ( -LRB- cord-014712-5u4e00q6 792 68 STAT3 STAT3 NNP cord-014712-5u4e00q6 792 69 ) ) -RRB- cord-014712-5u4e00q6 792 70 . . . cord-014712-5u4e00q6 793 1 Four four CD cord-014712-5u4e00q6 793 2 patients patient NNS cord-014712-5u4e00q6 793 3 from from IN cord-014712-5u4e00q6 793 4 3 3 CD cord-014712-5u4e00q6 793 5 Hungarian hungarian JJ cord-014712-5u4e00q6 793 6 families family NNS cord-014712-5u4e00q6 793 7 , , , cord-014712-5u4e00q6 793 8 and and CC cord-014712-5u4e00q6 793 9 one one CD cord-014712-5u4e00q6 793 10 Russian russian JJ cord-014712-5u4e00q6 793 11 , , , cord-014712-5u4e00q6 793 12 and and CC cord-014712-5u4e00q6 793 13 one one CD cord-014712-5u4e00q6 793 14 Swedish swedish JJ cord-014712-5u4e00q6 793 15 patient patient NN cord-014712-5u4e00q6 793 16 carried carry VBD cord-014712-5u4e00q6 793 17 the the DT cord-014712-5u4e00q6 793 18 heterozygous heterozygous JJ cord-014712-5u4e00q6 793 19 R382W R382W NNP cord-014712-5u4e00q6 793 20 germline germline NN cord-014712-5u4e00q6 793 21 mutation mutation NN cord-014712-5u4e00q6 793 22 at at IN cord-014712-5u4e00q6 793 23 the the DT cord-014712-5u4e00q6 793 24 DNA dna NN cord-014712-5u4e00q6 793 25 - - HYPH cord-014712-5u4e00q6 793 26 binding bind VBG cord-014712-5u4e00q6 793 27 site site NN cord-014712-5u4e00q6 793 28 of of IN cord-014712-5u4e00q6 793 29 STAT3 STAT3 NNP cord-014712-5u4e00q6 793 30 . . . cord-014712-5u4e00q6 794 1 The the DT cord-014712-5u4e00q6 794 2 recurrent recurrent JJ cord-014712-5u4e00q6 794 3 V637 v637 NN cord-014712-5u4e00q6 794 4 M m NN cord-014712-5u4e00q6 794 5 mutation mutation NN cord-014712-5u4e00q6 794 6 affecting affect VBG cord-014712-5u4e00q6 794 7 the the DT cord-014712-5u4e00q6 794 8 SRC SRC NNP cord-014712-5u4e00q6 794 9 homology homology NN cord-014712-5u4e00q6 794 10 2 2 CD cord-014712-5u4e00q6 794 11 ( ( -LRB- cord-014712-5u4e00q6 794 12 SH2 SH2 NNP cord-014712-5u4e00q6 794 13 ) ) -RRB- cord-014712-5u4e00q6 794 14 domain domain NN cord-014712-5u4e00q6 794 15 was be VBD cord-014712-5u4e00q6 794 16 detected detect VBN cord-014712-5u4e00q6 794 17 in in IN cord-014712-5u4e00q6 794 18 one one CD cord-014712-5u4e00q6 794 19 Lebanese lebanese JJ cord-014712-5u4e00q6 794 20 and and CC cord-014712-5u4e00q6 794 21 one one CD cord-014712-5u4e00q6 794 22 Polish polish JJ cord-014712-5u4e00q6 794 23 family family NN cord-014712-5u4e00q6 794 24 , , , cord-014712-5u4e00q6 794 25 and and CC cord-014712-5u4e00q6 794 26 the the DT cord-014712-5u4e00q6 794 27 V463del v463del JJ cord-014712-5u4e00q6 794 28 deletion deletion NN cord-014712-5u4e00q6 794 29 located locate VBN cord-014712-5u4e00q6 794 30 in in IN cord-014712-5u4e00q6 794 31 the the DT cord-014712-5u4e00q6 794 32 DNA dna NN cord-014712-5u4e00q6 794 33 - - HYPH cord-014712-5u4e00q6 794 34 binding bind VBG cord-014712-5u4e00q6 794 35 domain domain NN cord-014712-5u4e00q6 794 36 was be VBD cord-014712-5u4e00q6 794 37 unveiled unveil VBN cord-014712-5u4e00q6 794 38 in in IN cord-014712-5u4e00q6 794 39 another another DT cord-014712-5u4e00q6 794 40 Lebanese lebanese JJ cord-014712-5u4e00q6 794 41 family family NN cord-014712-5u4e00q6 794 42 . . . cord-014712-5u4e00q6 795 1 A a DT cord-014712-5u4e00q6 795 2 novel novel JJ cord-014712-5u4e00q6 795 3 H332Y h332y NN cord-014712-5u4e00q6 795 4 mutation mutation NN cord-014712-5u4e00q6 795 5 affecting affect VBG cord-014712-5u4e00q6 795 6 the the DT cord-014712-5u4e00q6 795 7 DNA dna NN cord-014712-5u4e00q6 795 8 - - HYPH cord-014712-5u4e00q6 795 9 binding bind VBG cord-014712-5u4e00q6 795 10 site site NN cord-014712-5u4e00q6 795 11 of of IN cord-014712-5u4e00q6 795 12 STAT3 STAT3 NNP cord-014712-5u4e00q6 795 13 in in IN cord-014712-5u4e00q6 795 14 three three CD cord-014712-5u4e00q6 795 15 Hungarian hungarian JJ cord-014712-5u4e00q6 795 16 patients patient NNS cord-014712-5u4e00q6 795 17 from from IN cord-014712-5u4e00q6 795 18 a a DT cord-014712-5u4e00q6 795 19 Gypsy Gypsy NNP cord-014712-5u4e00q6 795 20 family family NN cord-014712-5u4e00q6 795 21 was be VBD cord-014712-5u4e00q6 795 22 also also RB cord-014712-5u4e00q6 795 23 found find VBN cord-014712-5u4e00q6 795 24 . . . cord-014712-5u4e00q6 796 1 The the DT cord-014712-5u4e00q6 796 2 segregation segregation NN cord-014712-5u4e00q6 796 3 of of IN cord-014712-5u4e00q6 796 4 this this DT cord-014712-5u4e00q6 796 5 mutation mutation NN cord-014712-5u4e00q6 796 6 with with IN cord-014712-5u4e00q6 796 7 HIES HIES NNP cord-014712-5u4e00q6 796 8 , , , cord-014712-5u4e00q6 796 9 restriction restriction NN cord-014712-5u4e00q6 796 10 fragment fragment NN cord-014712-5u4e00q6 796 11 length length NN cord-014712-5u4e00q6 796 12 polymorphism polymorphism NN cord-014712-5u4e00q6 796 13 analysis analysis NN cord-014712-5u4e00q6 796 14 of of IN cord-014712-5u4e00q6 796 15 STAT3 STAT3 NNP cord-014712-5u4e00q6 796 16 from from IN cord-014712-5u4e00q6 796 17 patients patient NNS cord-014712-5u4e00q6 796 18 and and CC cord-014712-5u4e00q6 796 19 controls control NNS cord-014712-5u4e00q6 796 20 and and CC cord-014712-5u4e00q6 796 21 the the DT cord-014712-5u4e00q6 796 22 negligible negligible JJ cord-014712-5u4e00q6 796 23 production production NN cord-014712-5u4e00q6 796 24 upon upon IN cord-014712-5u4e00q6 796 25 IL-6 IL-6 NNP cord-014712-5u4e00q6 796 26 stimulation stimulation NN cord-014712-5u4e00q6 796 27 of of IN cord-014712-5u4e00q6 796 28 monocyte monocyte NNP cord-014712-5u4e00q6 796 29 chemotactic chemotactic JJ cord-014712-5u4e00q6 796 30 protein-1 protein-1 NNP cord-014712-5u4e00q6 796 31 by by IN cord-014712-5u4e00q6 796 32 the the DT cord-014712-5u4e00q6 796 33 patient patient NN cord-014712-5u4e00q6 796 34 's 's POS cord-014712-5u4e00q6 796 35 blood blood NN cord-014712-5u4e00q6 796 36 mononuclear mononuclear NN cord-014712-5u4e00q6 796 37 cells cell NNS cord-014712-5u4e00q6 796 38 suggested suggest VBD cord-014712-5u4e00q6 796 39 that that IN cord-014712-5u4e00q6 796 40 the the DT cord-014712-5u4e00q6 796 41 H332Y H332Y NNP cord-014712-5u4e00q6 796 42 mutation mutation NN cord-014712-5u4e00q6 796 43 was be VBD cord-014712-5u4e00q6 796 44 disease disease NN cord-014712-5u4e00q6 796 45 - - HYPH cord-014712-5u4e00q6 796 46 causing causing NN cord-014712-5u4e00q6 796 47 . . . cord-014712-5u4e00q6 797 1 These these DT cord-014712-5u4e00q6 797 2 data datum NNS cord-014712-5u4e00q6 797 3 suggest suggest VBP cord-014712-5u4e00q6 797 4 , , , cord-014712-5u4e00q6 797 5 that that DT cord-014712-5u4e00q6 797 6 dominant dominant JJ cord-014712-5u4e00q6 797 7 negative negative JJ cord-014712-5u4e00q6 797 8 mutations mutation NNS cord-014712-5u4e00q6 797 9 of of IN cord-014712-5u4e00q6 797 10 the the DT cord-014712-5u4e00q6 797 11 DNA dna NN cord-014712-5u4e00q6 797 12 - - HYPH cord-014712-5u4e00q6 797 13 binding binding JJ cord-014712-5u4e00q6 797 14 and and CC cord-014712-5u4e00q6 797 15 SH2 sh2 NN cord-014712-5u4e00q6 797 16 domains domain NNS cord-014712-5u4e00q6 797 17 of of IN cord-014712-5u4e00q6 797 18 STAT3 STAT3 NNP cord-014712-5u4e00q6 797 19 cause cause VBP cord-014712-5u4e00q6 797 20 AD ad NN cord-014712-5u4e00q6 797 21 and and CC cord-014712-5u4e00q6 797 22 sporadic sporadic JJ cord-014712-5u4e00q6 797 23 cases case NNS cord-014712-5u4e00q6 797 24 of of IN cord-014712-5u4e00q6 797 25 HIES HIES NNP cord-014712-5u4e00q6 797 26 in in IN cord-014712-5u4e00q6 797 27 different different JJ cord-014712-5u4e00q6 797 28 ethnic ethnic JJ cord-014712-5u4e00q6 797 29 groups group NNS cord-014712-5u4e00q6 797 30 with with IN cord-014712-5u4e00q6 797 31 R382W R382W NNS cord-014712-5u4e00q6 797 32 as as IN cord-014712-5u4e00q6 797 33 the the DT cord-014712-5u4e00q6 797 34 predominant predominant JJ cord-014712-5u4e00q6 797 35 mutation mutation NN cord-014712-5u4e00q6 797 36 found find VBN cord-014712-5u4e00q6 797 37 in in IN cord-014712-5u4e00q6 797 38 5 5 CD cord-014712-5u4e00q6 797 39 of of IN cord-014712-5u4e00q6 797 40 the the DT cord-014712-5u4e00q6 797 41 9 9 CD cord-014712-5u4e00q6 797 42 families family NNS cord-014712-5u4e00q6 797 43 . . . cord-014712-5u4e00q6 798 1 Functional functional JJ cord-014712-5u4e00q6 798 2 and and CC cord-014712-5u4e00q6 798 3 genetic genetic JJ cord-014712-5u4e00q6 798 4 data data NN cord-014712-5u4e00q6 798 5 support support NN cord-014712-5u4e00q6 798 6 that that IN cord-014712-5u4e00q6 798 7 the the DT cord-014712-5u4e00q6 798 8 novel novel JJ cord-014712-5u4e00q6 798 9 H332Y h332y NN cord-014712-5u4e00q6 798 10 mutation mutation NN cord-014712-5u4e00q6 798 11 may may MD cord-014712-5u4e00q6 798 12 result result VB cord-014712-5u4e00q6 798 13 in in IN cord-014712-5u4e00q6 798 14 the the DT cord-014712-5u4e00q6 798 15 loss loss NN cord-014712-5u4e00q6 798 16 of of IN cord-014712-5u4e00q6 798 17 function function NN cord-014712-5u4e00q6 798 18 of of IN cord-014712-5u4e00q6 798 19 STAT3 STAT3 NNP cord-014712-5u4e00q6 798 20 and and CC cord-014712-5u4e00q6 798 21 leads lead VBZ cord-014712-5u4e00q6 798 22 to to IN cord-014712-5u4e00q6 798 23 the the DT cord-014712-5u4e00q6 798 24 HIES HIES NNP cord-014712-5u4e00q6 798 25 phenotype phenotype NN cord-014712-5u4e00q6 798 26 . . . cord-014712-5u4e00q6 799 1 Published publish VBN cord-014712-5u4e00q6 799 2 in in IN cord-014712-5u4e00q6 799 3 Molecular Molecular NNP cord-014712-5u4e00q6 799 4 Immunology Immunology NNP cord-014712-5u4e00q6 799 5 . . . cord-014712-5u4e00q6 800 1 46:202 46:202 CD cord-014712-5u4e00q6 800 2 - - SYM cord-014712-5u4e00q6 800 3 6 6 CD cord-014712-5u4e00q6 800 4 . . . cord-014712-5u4e00q6 801 1 Males male NNS cord-014712-5u4e00q6 801 2 with with IN cord-014712-5u4e00q6 801 3 an an DT cord-014712-5u4e00q6 801 4 expressed expressed JJ cord-014712-5u4e00q6 801 5 mutation mutation NN cord-014712-5u4e00q6 801 6 in in IN cord-014712-5u4e00q6 801 7 the the DT cord-014712-5u4e00q6 801 8 SAP SAP NNP cord-014712-5u4e00q6 801 9 ( ( -LRB- cord-014712-5u4e00q6 801 10 signaling signal VBG cord-014712-5u4e00q6 801 11 lymphocyte lymphocyte NN cord-014712-5u4e00q6 801 12 activating activate VBG cord-014712-5u4e00q6 801 13 molecule molecule NN cord-014712-5u4e00q6 801 14 [ [ -LRB- cord-014712-5u4e00q6 801 15 SLAM]-associed slam]-associed JJ cord-014712-5u4e00q6 801 16 protein protein NN cord-014712-5u4e00q6 801 17 ) ) -RRB- cord-014712-5u4e00q6 801 18 gene gene NN cord-014712-5u4e00q6 801 19 have have VBP cord-014712-5u4e00q6 801 20 an an DT cord-014712-5u4e00q6 801 21 X x NN cord-014712-5u4e00q6 801 22 - - HYPH cord-014712-5u4e00q6 801 23 linked link VBN cord-014712-5u4e00q6 801 24 syndrome syndrome NN cord-014712-5u4e00q6 801 25 characterized characterize VBN cord-014712-5u4e00q6 801 26 by by IN cord-014712-5u4e00q6 801 27 an an DT cord-014712-5u4e00q6 801 28 increased increase VBN cord-014712-5u4e00q6 801 29 vulnerability vulnerability NN cord-014712-5u4e00q6 801 30 to to IN cord-014712-5u4e00q6 801 31 infection infection NN cord-014712-5u4e00q6 801 32 with with IN cord-014712-5u4e00q6 801 33 Epstein Epstein NNP cord-014712-5u4e00q6 801 34 - - HYPH cord-014712-5u4e00q6 801 35 Barr Barr NNP cord-014712-5u4e00q6 801 36 virus virus NN cord-014712-5u4e00q6 801 37 ( ( -LRB- cord-014712-5u4e00q6 801 38 EBV EBV NNP cord-014712-5u4e00q6 801 39 ) ) -RRB- cord-014712-5u4e00q6 801 40 . . . cord-014712-5u4e00q6 802 1 We -PRON- PRP cord-014712-5u4e00q6 802 2 evaluated evaluate VBD cord-014712-5u4e00q6 802 3 two two CD cord-014712-5u4e00q6 802 4 related related JJ cord-014712-5u4e00q6 802 5 male male JJ cord-014712-5u4e00q6 802 6 patients patient NNS cord-014712-5u4e00q6 802 7 with with IN cord-014712-5u4e00q6 802 8 fatal fatal JJ cord-014712-5u4e00q6 802 9 infectious infectious JJ cord-014712-5u4e00q6 802 10 mononucleosis mononucleosis NN cord-014712-5u4e00q6 802 11 ( ( -LRB- cord-014712-5u4e00q6 802 12 FIM FIM NNP cord-014712-5u4e00q6 802 13 ) ) -RRB- cord-014712-5u4e00q6 802 14 and and CC cord-014712-5u4e00q6 802 15 mutation mutation NN cord-014712-5u4e00q6 802 16 in in IN cord-014712-5u4e00q6 802 17 the the DT cord-014712-5u4e00q6 802 18 SAP SAP NNP cord-014712-5u4e00q6 802 19 gene gene NN cord-014712-5u4e00q6 802 20 . . . cord-014712-5u4e00q6 803 1 Sequence sequence NN cord-014712-5u4e00q6 803 2 analysis analysis NN cord-014712-5u4e00q6 803 3 revealed reveal VBD cord-014712-5u4e00q6 803 4 hemizygous hemizygous JJ cord-014712-5u4e00q6 803 5 G G NNP cord-014712-5u4e00q6 803 6 to to IN cord-014712-5u4e00q6 803 7 A a DT cord-014712-5u4e00q6 803 8 transition transition NN cord-014712-5u4e00q6 803 9 at at IN cord-014712-5u4e00q6 803 10 nucleotide nucleotide JJ cord-014712-5u4e00q6 803 11 position position NN cord-014712-5u4e00q6 803 12 47 47 CD cord-014712-5u4e00q6 803 13 in in IN cord-014712-5u4e00q6 803 14 exon exon NN cord-014712-5u4e00q6 803 15 1 1 CD cord-014712-5u4e00q6 803 16 in in IN cord-014712-5u4e00q6 803 17 one one CD cord-014712-5u4e00q6 803 18 of of IN cord-014712-5u4e00q6 803 19 the the DT cord-014712-5u4e00q6 803 20 patients patient NNS cord-014712-5u4e00q6 803 21 , , , cord-014712-5u4e00q6 803 22 and and CC cord-014712-5u4e00q6 803 23 heterozygosity heterozygosity NN cord-014712-5u4e00q6 803 24 for for IN cord-014712-5u4e00q6 803 25 this this DT cord-014712-5u4e00q6 803 26 mutation mutation NN cord-014712-5u4e00q6 803 27 in in IN cord-014712-5u4e00q6 803 28 the the DT cord-014712-5u4e00q6 803 29 genomic genomic JJ cord-014712-5u4e00q6 803 30 DNA dna NN cord-014712-5u4e00q6 803 31 from from IN cord-014712-5u4e00q6 803 32 his -PRON- PRP$ cord-014712-5u4e00q6 803 33 mother mother NN cord-014712-5u4e00q6 803 34 and and CC cord-014712-5u4e00q6 803 35 maternal maternal JJ cord-014712-5u4e00q6 803 36 grandmother grandmother NN cord-014712-5u4e00q6 803 37 . . . cord-014712-5u4e00q6 804 1 This this DT cord-014712-5u4e00q6 804 2 mutation mutation NN cord-014712-5u4e00q6 804 3 resulted result VBD cord-014712-5u4e00q6 804 4 in in IN cord-014712-5u4e00q6 804 5 asparagine asparagine NN cord-014712-5u4e00q6 804 6 instead instead RB cord-014712-5u4e00q6 804 7 of of IN cord-014712-5u4e00q6 804 8 glycine glycine NN cord-014712-5u4e00q6 804 9 in in IN cord-014712-5u4e00q6 804 10 the the DT cord-014712-5u4e00q6 804 11 sequence sequence NN cord-014712-5u4e00q6 804 12 of of IN cord-014712-5u4e00q6 804 13 the the DT cord-014712-5u4e00q6 804 14 SAP SAP NNP cord-014712-5u4e00q6 804 15 protein protein NN cord-014712-5u4e00q6 804 16 at at IN cord-014712-5u4e00q6 804 17 amino amino NN cord-014712-5u4e00q6 804 18 acid acid NN cord-014712-5u4e00q6 804 19 position position NN cord-014712-5u4e00q6 804 20 16 16 CD cord-014712-5u4e00q6 804 21 . . . cord-014712-5u4e00q6 805 1 To to TO cord-014712-5u4e00q6 805 2 analyse analyse VB cord-014712-5u4e00q6 805 3 the the DT cord-014712-5u4e00q6 805 4 effect effect NN cord-014712-5u4e00q6 805 5 of of IN cord-014712-5u4e00q6 805 6 this this DT cord-014712-5u4e00q6 805 7 missense missense JJ cord-014712-5u4e00q6 805 8 mutation mutation NN cord-014712-5u4e00q6 805 9 on on IN cord-014712-5u4e00q6 805 10 protein protein NN cord-014712-5u4e00q6 805 11 function function NN cord-014712-5u4e00q6 805 12 cDNA cDNA NNP cord-014712-5u4e00q6 805 13 was be VBD cord-014712-5u4e00q6 805 14 generated generate VBN cord-014712-5u4e00q6 805 15 by by IN cord-014712-5u4e00q6 805 16 site site NN cord-014712-5u4e00q6 805 17 - - HYPH cord-014712-5u4e00q6 805 18 directed direct VBN cord-014712-5u4e00q6 805 19 mutagenesis mutagenesis NN cord-014712-5u4e00q6 805 20 and and CC cord-014712-5u4e00q6 805 21 cloned clone VBN cord-014712-5u4e00q6 805 22 in in IN cord-014712-5u4e00q6 805 23 pCMV pcmv NN cord-014712-5u4e00q6 805 24 - - HYPH cord-014712-5u4e00q6 805 25 FLAG flag NN cord-014712-5u4e00q6 805 26 vector vector NN cord-014712-5u4e00q6 805 27 . . . cord-014712-5u4e00q6 806 1 We -PRON- PRP cord-014712-5u4e00q6 806 2 found find VBD cord-014712-5u4e00q6 806 3 that that IN cord-014712-5u4e00q6 806 4 the the DT cord-014712-5u4e00q6 806 5 mutant mutant JJ cord-014712-5u4e00q6 806 6 SAP SAP NNP cord-014712-5u4e00q6 806 7 ( ( -LRB- cord-014712-5u4e00q6 806 8 SAP SAP NNP cord-014712-5u4e00q6 806 9 / / SYM cord-014712-5u4e00q6 806 10 G16D G16D NNP cord-014712-5u4e00q6 806 11 ) ) -RRB- cord-014712-5u4e00q6 806 12 protein protein NN cord-014712-5u4e00q6 806 13 was be VBD cord-014712-5u4e00q6 806 14 defective defective JJ cord-014712-5u4e00q6 806 15 in in IN cord-014712-5u4e00q6 806 16 protein protein NN cord-014712-5u4e00q6 806 17 folding folding NN cord-014712-5u4e00q6 806 18 as as IN cord-014712-5u4e00q6 806 19 manifested manifest VBN cord-014712-5u4e00q6 806 20 by by IN cord-014712-5u4e00q6 806 21 the the DT cord-014712-5u4e00q6 806 22 reduced reduce VBN cord-014712-5u4e00q6 806 23 half half JJ cord-014712-5u4e00q6 806 24 - - HYPH cord-014712-5u4e00q6 806 25 life life NN cord-014712-5u4e00q6 806 26 compared compare VBN cord-014712-5u4e00q6 806 27 to to IN cord-014712-5u4e00q6 806 28 that that DT cord-014712-5u4e00q6 806 29 of of IN cord-014712-5u4e00q6 806 30 wild wild JJ cord-014712-5u4e00q6 806 31 type type NN cord-014712-5u4e00q6 806 32 SAP SAP NNP cord-014712-5u4e00q6 806 33 . . . cord-014712-5u4e00q6 807 1 Furthermore furthermore RB cord-014712-5u4e00q6 807 2 , , , cord-014712-5u4e00q6 807 3 the the DT cord-014712-5u4e00q6 807 4 SAP SAP NNP cord-014712-5u4e00q6 807 5 / / SYM cord-014712-5u4e00q6 807 6 G16D G16D NNP cord-014712-5u4e00q6 807 7 protein protein NN cord-014712-5u4e00q6 807 8 was be VBD cord-014712-5u4e00q6 807 9 defective defective JJ cord-014712-5u4e00q6 807 10 in in IN cord-014712-5u4e00q6 807 11 binding bind VBG cord-014712-5u4e00q6 807 12 to to IN cord-014712-5u4e00q6 807 13 its -PRON- PRP$ cord-014712-5u4e00q6 807 14 philological philological JJ cord-014712-5u4e00q6 807 15 ligands ligand NNS cord-014712-5u4e00q6 807 16 SLAM slam VBP cord-014712-5u4e00q6 807 17 and and CC cord-014712-5u4e00q6 807 18 2B4 2b4 CD cord-014712-5u4e00q6 807 19 . . . cord-014712-5u4e00q6 808 1 These these DT cord-014712-5u4e00q6 808 2 results result NNS cord-014712-5u4e00q6 808 3 suggest suggest VBP cord-014712-5u4e00q6 808 4 that that IN cord-014712-5u4e00q6 808 5 defects defect NNS cord-014712-5u4e00q6 808 6 in in IN cord-014712-5u4e00q6 808 7 protein protein NN cord-014712-5u4e00q6 808 8 folding folding NN cord-014712-5u4e00q6 808 9 and and CC cord-014712-5u4e00q6 808 10 ligand ligand NN cord-014712-5u4e00q6 808 11 binding binding NN cord-014712-5u4e00q6 808 12 collectively collectively RB cord-014712-5u4e00q6 808 13 contribute contribute VBP cord-014712-5u4e00q6 808 14 to to IN cord-014712-5u4e00q6 808 15 the the DT cord-014712-5u4e00q6 808 16 loss loss NN cord-014712-5u4e00q6 808 17 of of IN cord-014712-5u4e00q6 808 18 function function NN cord-014712-5u4e00q6 808 19 of of IN cord-014712-5u4e00q6 808 20 the the DT cord-014712-5u4e00q6 808 21 SAP SAP NNP cord-014712-5u4e00q6 808 22 protein protein NN cord-014712-5u4e00q6 808 23 in in IN cord-014712-5u4e00q6 808 24 patients patient NNS cord-014712-5u4e00q6 808 25 carrying carry VBG cord-014712-5u4e00q6 808 26 G16D G16D NNP cord-014712-5u4e00q6 808 27 mutation mutation NN cord-014712-5u4e00q6 808 28 . . . cord-014712-5u4e00q6 809 1 Dedicator Dedicator NNP cord-014712-5u4e00q6 809 2 of of IN cord-014712-5u4e00q6 809 3 cytokinesis cytokinesis NN cord-014712-5u4e00q6 809 4 8 8 CD cord-014712-5u4e00q6 809 5 ( ( -LRB- cord-014712-5u4e00q6 809 6 DOCK8 dock8 NN cord-014712-5u4e00q6 809 7 ) ) -RRB- cord-014712-5u4e00q6 809 8 deficiency deficiency NN cord-014712-5u4e00q6 809 9 is be VBZ cord-014712-5u4e00q6 809 10 an an DT cord-014712-5u4e00q6 809 11 innate innate JJ cord-014712-5u4e00q6 809 12 error error NN cord-014712-5u4e00q6 809 13 of of IN cord-014712-5u4e00q6 809 14 adaptive adaptive JJ cord-014712-5u4e00q6 809 15 immunity immunity NN cord-014712-5u4e00q6 809 16 characterized characterize VBN cord-014712-5u4e00q6 809 17 by by IN cord-014712-5u4e00q6 809 18 recurrent recurrent JJ cord-014712-5u4e00q6 809 19 viral viral JJ cord-014712-5u4e00q6 809 20 , , , cord-014712-5u4e00q6 809 21 bacterial bacterial JJ cord-014712-5u4e00q6 809 22 and and CC cord-014712-5u4e00q6 809 23 fungal fungal JJ cord-014712-5u4e00q6 809 24 infections infection NNS cord-014712-5u4e00q6 809 25 , , , cord-014712-5u4e00q6 809 26 very very RB cord-014712-5u4e00q6 809 27 high high JJ cord-014712-5u4e00q6 809 28 serum serum NN cord-014712-5u4e00q6 809 29 IgE IgE NNP cord-014712-5u4e00q6 809 30 concentration concentration NN cord-014712-5u4e00q6 809 31 and and CC cord-014712-5u4e00q6 809 32 a a DT cord-014712-5u4e00q6 809 33 progressive progressive JJ cord-014712-5u4e00q6 809 34 deterioration deterioration NN cord-014712-5u4e00q6 809 35 of of IN cord-014712-5u4e00q6 809 36 T T NNP cord-014712-5u4e00q6 809 37 - - HYPH cord-014712-5u4e00q6 809 38 and and CC cord-014712-5u4e00q6 809 39 B B NNP cord-014712-5u4e00q6 809 40 cell cell NN cord-014712-5u4e00q6 809 41 - - HYPH cord-014712-5u4e00q6 809 42 mediated mediate VBN cord-014712-5u4e00q6 809 43 immunity immunity NN cord-014712-5u4e00q6 809 44 . . . cord-014712-5u4e00q6 810 1 Traditional traditional JJ cord-014712-5u4e00q6 810 2 Sanger Sanger NNP cord-014712-5u4e00q6 810 3 sequencing sequencing NN cord-014712-5u4e00q6 810 4 may may MD cord-014712-5u4e00q6 810 5 fail fail VB cord-014712-5u4e00q6 810 6 to to TO cord-014712-5u4e00q6 810 7 identify identify VB cord-014712-5u4e00q6 810 8 mutations mutation NNS cord-014712-5u4e00q6 810 9 in in IN cord-014712-5u4e00q6 810 10 DOCK8 dock8 NN cord-014712-5u4e00q6 810 11 , , , cord-014712-5u4e00q6 810 12 due due IN cord-014712-5u4e00q6 810 13 to to IN cord-014712-5u4e00q6 810 14 overlapping overlap VBG cord-014712-5u4e00q6 810 15 large large JJ cord-014712-5u4e00q6 810 16 deletions deletion NNS cord-014712-5u4e00q6 810 17 in in IN cord-014712-5u4e00q6 810 18 heterozygous heterozygous JJ cord-014712-5u4e00q6 810 19 patients patient NNS cord-014712-5u4e00q6 810 20 . . . cord-014712-5u4e00q6 811 1 We -PRON- PRP cord-014712-5u4e00q6 811 2 studied study VBD cord-014712-5u4e00q6 811 3 the the DT cord-014712-5u4e00q6 811 4 genetic genetic JJ cord-014712-5u4e00q6 811 5 and and CC cord-014712-5u4e00q6 811 6 immunological immunological JJ cord-014712-5u4e00q6 811 7 features feature NNS cord-014712-5u4e00q6 811 8 of of IN cord-014712-5u4e00q6 811 9 two two CD cord-014712-5u4e00q6 811 10 sisters sister NNS cord-014712-5u4e00q6 811 11 ( ( -LRB- cord-014712-5u4e00q6 811 12 11 11 CD cord-014712-5u4e00q6 811 13 and and CC cord-014712-5u4e00q6 811 14 6 6 CD cord-014712-5u4e00q6 811 15 years year NNS cord-014712-5u4e00q6 811 16 of of IN cord-014712-5u4e00q6 811 17 age age NN cord-014712-5u4e00q6 811 18 ) ) -RRB- cord-014712-5u4e00q6 811 19 born bear VBN cord-014712-5u4e00q6 811 20 to to IN cord-014712-5u4e00q6 811 21 healthy healthy JJ cord-014712-5u4e00q6 811 22 Hungarian hungarian JJ cord-014712-5u4e00q6 811 23 parents parent NNS cord-014712-5u4e00q6 811 24 . . . cord-014712-5u4e00q6 812 1 Mutational mutational JJ cord-014712-5u4e00q6 812 2 analysis analysis NN cord-014712-5u4e00q6 812 3 of of IN cord-014712-5u4e00q6 812 4 genomic genomic JJ cord-014712-5u4e00q6 812 5 DNA dna NN cord-014712-5u4e00q6 812 6 and and CC cord-014712-5u4e00q6 812 7 cDNA cdna NN cord-014712-5u4e00q6 812 8 from from IN cord-014712-5u4e00q6 812 9 the the DT cord-014712-5u4e00q6 812 10 patients patient NNS cord-014712-5u4e00q6 812 11 and and CC cord-014712-5u4e00q6 812 12 parents parent NNS cord-014712-5u4e00q6 812 13 by by IN cord-014712-5u4e00q6 812 14 a a DT cord-014712-5u4e00q6 812 15 combination combination NN cord-014712-5u4e00q6 812 16 of of IN cord-014712-5u4e00q6 812 17 PCR PCR NNP cord-014712-5u4e00q6 812 18 and and CC cord-014712-5u4e00q6 812 19 bidirectional bidirectional JJ cord-014712-5u4e00q6 812 20 targeted target VBN cord-014712-5u4e00q6 812 21 sequencing sequencing NN cord-014712-5u4e00q6 812 22 failed fail VBD cord-014712-5u4e00q6 812 23 to to TO cord-014712-5u4e00q6 812 24 identify identify VB cord-014712-5u4e00q6 812 25 the the DT cord-014712-5u4e00q6 812 26 mutation mutation NN cord-014712-5u4e00q6 812 27 . . . cord-014712-5u4e00q6 813 1 However however RB cord-014712-5u4e00q6 813 2 , , , cord-014712-5u4e00q6 813 3 a a DT cord-014712-5u4e00q6 813 4 multiple multiple JJ cord-014712-5u4e00q6 813 5 ligation ligation NN cord-014712-5u4e00q6 813 6 - - HYPH cord-014712-5u4e00q6 813 7 dependent dependent JJ cord-014712-5u4e00q6 813 8 probe probe NN cord-014712-5u4e00q6 813 9 amplification amplification NN cord-014712-5u4e00q6 813 10 ( ( -LRB- cord-014712-5u4e00q6 813 11 MLPA MLPA NNP cord-014712-5u4e00q6 813 12 ) ) -RRB- cord-014712-5u4e00q6 813 13 assay assay NN cord-014712-5u4e00q6 813 14 revealed reveal VBD cord-014712-5u4e00q6 813 15 two two CD cord-014712-5u4e00q6 813 16 previously previously RB cord-014712-5u4e00q6 813 17 unknown unknown JJ cord-014712-5u4e00q6 813 18 large large JJ cord-014712-5u4e00q6 813 19 deletions deletion NNS cord-014712-5u4e00q6 813 20 , , , cord-014712-5u4e00q6 813 21 del1 del1 NNP cord-014712-5u4e00q6 813 22 - - HYPH cord-014712-5u4e00q6 813 23 14 14 CD cord-014712-5u4e00q6 813 24 exons exon NNS cord-014712-5u4e00q6 813 25 and and CC cord-014712-5u4e00q6 813 26 del8 del8 NN cord-014712-5u4e00q6 813 27 - - HYPH cord-014712-5u4e00q6 813 28 18 18 CD cord-014712-5u4e00q6 813 29 exons exon NNS cord-014712-5u4e00q6 813 30 , , , cord-014712-5u4e00q6 813 31 of of IN cord-014712-5u4e00q6 813 32 DOCK8 dock8 XX cord-014712-5u4e00q6 813 33 in in IN cord-014712-5u4e00q6 813 34 both both DT cord-014712-5u4e00q6 813 35 patients patient NNS cord-014712-5u4e00q6 813 36 . . . cord-014712-5u4e00q6 814 1 The the DT cord-014712-5u4e00q6 814 2 children child NNS cord-014712-5u4e00q6 814 3 's 's POS cord-014712-5u4e00q6 814 4 mother mother NN cord-014712-5u4e00q6 814 5 was be VBD cord-014712-5u4e00q6 814 6 heterozygous heterozygous JJ cord-014712-5u4e00q6 814 7 for for IN cord-014712-5u4e00q6 814 8 the the DT cord-014712-5u4e00q6 814 9 del1 del1 NNP cord-014712-5u4e00q6 814 10 - - HYPH cord-014712-5u4e00q6 814 11 14 14 CD cord-014712-5u4e00q6 814 12 exons exon NNS cord-014712-5u4e00q6 814 13 mutation mutation NN cord-014712-5u4e00q6 814 14 , , , cord-014712-5u4e00q6 814 15 whereas whereas IN cord-014712-5u4e00q6 814 16 the the DT cord-014712-5u4e00q6 814 17 father father NN cord-014712-5u4e00q6 814 18 carried carry VBD cord-014712-5u4e00q6 814 19 the the DT cord-014712-5u4e00q6 814 20 del8 del8 NN cord-014712-5u4e00q6 814 21 - - SYM cord-014712-5u4e00q6 814 22 18 18 CD cord-014712-5u4e00q6 814 23 exons exon NNS cord-014712-5u4e00q6 814 24 deletion deletion NN cord-014712-5u4e00q6 814 25 . . . cord-014712-5u4e00q6 815 1 Immunoblot Immunoblot NNP cord-014712-5u4e00q6 815 2 analysis analysis NN cord-014712-5u4e00q6 815 3 showed show VBD cord-014712-5u4e00q6 815 4 an an DT cord-014712-5u4e00q6 815 5 absence absence NN cord-014712-5u4e00q6 815 6 of of IN cord-014712-5u4e00q6 815 7 DOCK8 dock8 NN cord-014712-5u4e00q6 815 8 protein protein NN cord-014712-5u4e00q6 815 9 from from IN cord-014712-5u4e00q6 815 10 the the DT cord-014712-5u4e00q6 815 11 peripheral peripheral JJ cord-014712-5u4e00q6 815 12 blood blood NN cord-014712-5u4e00q6 815 13 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 815 14 of of IN cord-014712-5u4e00q6 815 15 both both DT cord-014712-5u4e00q6 815 16 patients patient NNS cord-014712-5u4e00q6 815 17 . . . cord-014712-5u4e00q6 816 1 These these DT cord-014712-5u4e00q6 816 2 data datum NNS cord-014712-5u4e00q6 816 3 suggest suggest VBP cord-014712-5u4e00q6 816 4 that that IN cord-014712-5u4e00q6 816 5 the the DT cord-014712-5u4e00q6 816 6 new new JJ cord-014712-5u4e00q6 816 7 compound compound NN cord-014712-5u4e00q6 816 8 heterozygous heterozygous JJ cord-014712-5u4e00q6 816 9 del1 del1 NNP cord-014712-5u4e00q6 816 10 - - HYPH cord-014712-5u4e00q6 816 11 14 14 CD cord-014712-5u4e00q6 816 12 exons exon NNS cord-014712-5u4e00q6 816 13 and and CC cord-014712-5u4e00q6 816 14 del8 del8 NN cord-014712-5u4e00q6 816 15 - - HYPH cord-014712-5u4e00q6 816 16 18 18 CD cord-014712-5u4e00q6 816 17 exons exon NNS cord-014712-5u4e00q6 816 18 mutations mutation NNS cord-014712-5u4e00q6 816 19 result result VBP cord-014712-5u4e00q6 816 20 in in IN cord-014712-5u4e00q6 816 21 a a DT cord-014712-5u4e00q6 816 22 loss loss NN cord-014712-5u4e00q6 816 23 of of IN cord-014712-5u4e00q6 816 24 DOCK8 dock8 NN cord-014712-5u4e00q6 816 25 protein protein NN cord-014712-5u4e00q6 816 26 function function NN cord-014712-5u4e00q6 816 27 and and CC cord-014712-5u4e00q6 816 28 a a DT cord-014712-5u4e00q6 816 29 typical typical JJ cord-014712-5u4e00q6 816 30 DOCK8 dock8 NN cord-014712-5u4e00q6 816 31 deficiency deficiency NN cord-014712-5u4e00q6 816 32 phenotype phenotype NN cord-014712-5u4e00q6 816 33 . . . cord-014712-5u4e00q6 817 1 Our -PRON- PRP$ cord-014712-5u4e00q6 817 2 findings finding NNS cord-014712-5u4e00q6 817 3 suggest suggest VBP cord-014712-5u4e00q6 817 4 that that IN cord-014712-5u4e00q6 817 5 traditional traditional JJ cord-014712-5u4e00q6 817 6 sequencing sequencing NN cord-014712-5u4e00q6 817 7 technology technology NN cord-014712-5u4e00q6 817 8 may may MD cord-014712-5u4e00q6 817 9 give give VB cord-014712-5u4e00q6 817 10 misleading misleading JJ cord-014712-5u4e00q6 817 11 results result NNS cord-014712-5u4e00q6 817 12 in in IN cord-014712-5u4e00q6 817 13 such such JJ cord-014712-5u4e00q6 817 14 cases case NNS cord-014712-5u4e00q6 817 15 and and CC cord-014712-5u4e00q6 817 16 that that IN cord-014712-5u4e00q6 817 17 MLPA MLPA NNP cord-014712-5u4e00q6 817 18 may may MD cord-014712-5u4e00q6 817 19 be be VB cord-014712-5u4e00q6 817 20 indispensible indispensible JJ cord-014712-5u4e00q6 817 21 for for IN cord-014712-5u4e00q6 817 22 the the DT cord-014712-5u4e00q6 817 23 definition definition NN cord-014712-5u4e00q6 817 24 of of IN cord-014712-5u4e00q6 817 25 the the DT cord-014712-5u4e00q6 817 26 large large JJ cord-014712-5u4e00q6 817 27 deletions deletion NNS cord-014712-5u4e00q6 817 28 frequently frequently RB cord-014712-5u4e00q6 817 29 observed observe VBD cord-014712-5u4e00q6 817 30 in in IN cord-014712-5u4e00q6 817 31 patients patient NNS cord-014712-5u4e00q6 817 32 with with IN cord-014712-5u4e00q6 817 33 DOCK8 dock8 NN cord-014712-5u4e00q6 817 34 deficiency deficiency NN cord-014712-5u4e00q6 817 35 . . . cord-014712-5u4e00q6 818 1 We -PRON- PRP cord-014712-5u4e00q6 818 2 describe describe VBP cord-014712-5u4e00q6 818 3 here here RB cord-014712-5u4e00q6 818 4 a a DT cord-014712-5u4e00q6 818 5 patient patient NN cord-014712-5u4e00q6 818 6 with with IN cord-014712-5u4e00q6 818 7 invasive invasive JJ cord-014712-5u4e00q6 818 8 Cryptococcus Cryptococcus NNP cord-014712-5u4e00q6 818 9 laurentii laurentii NN cord-014712-5u4e00q6 818 10 infection infection NN cord-014712-5u4e00q6 818 11 and and CC cord-014712-5u4e00q6 818 12 the the DT cord-014712-5u4e00q6 818 13 X x NN cord-014712-5u4e00q6 818 14 - - HYPH cord-014712-5u4e00q6 818 15 linked link VBN cord-014712-5u4e00q6 818 16 form form NN cord-014712-5u4e00q6 818 17 of of IN cord-014712-5u4e00q6 818 18 hyper hyper JJ cord-014712-5u4e00q6 818 19 - - JJ cord-014712-5u4e00q6 818 20 IgM igm JJ cord-014712-5u4e00q6 818 21 syndrome syndrome NN cord-014712-5u4e00q6 818 22 ( ( -LRB- cord-014712-5u4e00q6 818 23 X X NNP cord-014712-5u4e00q6 818 24 - - NNP cord-014712-5u4e00q6 818 25 HIGM HIGM NNP cord-014712-5u4e00q6 818 26 ) ) -RRB- cord-014712-5u4e00q6 818 27 . . . cord-014712-5u4e00q6 819 1 C.laurentii C.laurentii NNP cord-014712-5u4e00q6 819 2 is be VBZ cord-014712-5u4e00q6 819 3 an an DT cord-014712-5u4e00q6 819 4 extremely extremely RB cord-014712-5u4e00q6 819 5 rare rare JJ cord-014712-5u4e00q6 819 6 human human JJ cord-014712-5u4e00q6 819 7 pathogen pathogen NN cord-014712-5u4e00q6 819 8 . . . cord-014712-5u4e00q6 820 1 This this DT cord-014712-5u4e00q6 820 2 fungus fungus NN cord-014712-5u4e00q6 820 3 was be VBD cord-014712-5u4e00q6 820 4 previously previously RB cord-014712-5u4e00q6 820 5 considered consider VBN cord-014712-5u4e00q6 820 6 saprophytic saprophytic JJ cord-014712-5u4e00q6 820 7 and and CC cord-014712-5u4e00q6 820 8 non non JJ cord-014712-5u4e00q6 820 9 - - JJ cord-014712-5u4e00q6 820 10 pathogenic pathogenic JJ cord-014712-5u4e00q6 820 11 to to IN cord-014712-5u4e00q6 820 12 humans human NNS cord-014712-5u4e00q6 820 13 , , , cord-014712-5u4e00q6 820 14 but but CC cord-014712-5u4e00q6 820 15 it -PRON- PRP cord-014712-5u4e00q6 820 16 has have VBZ cord-014712-5u4e00q6 820 17 been be VBN cord-014712-5u4e00q6 820 18 isolated isolate VBN cord-014712-5u4e00q6 820 19 as as IN cord-014712-5u4e00q6 820 20 the the DT cord-014712-5u4e00q6 820 21 etiologic etiologic JJ cord-014712-5u4e00q6 820 22 agent agent NN cord-014712-5u4e00q6 820 23 of of IN cord-014712-5u4e00q6 820 24 skin skin NN cord-014712-5u4e00q6 820 25 infection infection NN cord-014712-5u4e00q6 820 26 , , , cord-014712-5u4e00q6 820 27 keratitis keratitis NN cord-014712-5u4e00q6 820 28 , , , cord-014712-5u4e00q6 820 29 endophthalmitis endophthalmitis NNP cord-014712-5u4e00q6 820 30 , , , cord-014712-5u4e00q6 820 31 lung lung NN cord-014712-5u4e00q6 820 32 abscess abscess NN cord-014712-5u4e00q6 820 33 , , , cord-014712-5u4e00q6 820 34 peritonitis peritonitis NN cord-014712-5u4e00q6 820 35 , , , cord-014712-5u4e00q6 820 36 meningitis meningitis NN cord-014712-5u4e00q6 820 37 , , , cord-014712-5u4e00q6 820 38 and and CC cord-014712-5u4e00q6 820 39 fungemia fungemia NN cord-014712-5u4e00q6 820 40 . . . cord-014712-5u4e00q6 821 1 Most most RBS cord-014712-5u4e00q6 821 2 affected affect VBN cord-014712-5u4e00q6 821 3 individuals individual NNS cord-014712-5u4e00q6 821 4 had have VBD cord-014712-5u4e00q6 821 5 a a DT cord-014712-5u4e00q6 821 6 compromised compromised JJ cord-014712-5u4e00q6 821 7 immune immune JJ cord-014712-5u4e00q6 821 8 system system NN cord-014712-5u4e00q6 821 9 because because IN cord-014712-5u4e00q6 821 10 of of IN cord-014712-5u4e00q6 821 11 leukemia leukemia NN cord-014712-5u4e00q6 821 12 , , , cord-014712-5u4e00q6 821 13 cancer cancer NN cord-014712-5u4e00q6 821 14 , , , cord-014712-5u4e00q6 821 15 diabetes diabetes NN cord-014712-5u4e00q6 821 16 mellitus mellitus NN cord-014712-5u4e00q6 821 17 , , , cord-014712-5u4e00q6 821 18 AIDS AIDS NNP cord-014712-5u4e00q6 821 19 , , , cord-014712-5u4e00q6 821 20 or or CC cord-014712-5u4e00q6 821 21 prematurity prematurity NN cord-014712-5u4e00q6 821 22 . . . cord-014712-5u4e00q6 822 1 Repeated repeat VBN cord-014712-5u4e00q6 822 2 isolation isolation NN cord-014712-5u4e00q6 822 3 of of IN cord-014712-5u4e00q6 822 4 C.laurentii C.laurentii NNP cord-014712-5u4e00q6 822 5 from from IN cord-014712-5u4e00q6 822 6 the the DT cord-014712-5u4e00q6 822 7 oropharynx oropharynx NN cord-014712-5u4e00q6 822 8 of of IN cord-014712-5u4e00q6 822 9 an an DT cord-014712-5u4e00q6 822 10 immunocompromised immunocompromised JJ cord-014712-5u4e00q6 822 11 patient patient NN cord-014712-5u4e00q6 822 12 has have VBZ cord-014712-5u4e00q6 822 13 also also RB cord-014712-5u4e00q6 822 14 been be VBN cord-014712-5u4e00q6 822 15 docu- docu- JJ cord-014712-5u4e00q6 823 1 The the DT cord-014712-5u4e00q6 823 2 Wiskott Wiskott NNP cord-014712-5u4e00q6 823 3 - - HYPH cord-014712-5u4e00q6 823 4 Aldrich Aldrich NNP cord-014712-5u4e00q6 823 5 syndrome syndrome NN cord-014712-5u4e00q6 823 6 ( ( -LRB- cord-014712-5u4e00q6 823 7 WAS be VBD cord-014712-5u4e00q6 823 8 ) ) -RRB- cord-014712-5u4e00q6 823 9 is be VBZ cord-014712-5u4e00q6 823 10 an an DT cord-014712-5u4e00q6 823 11 X x NN cord-014712-5u4e00q6 823 12 - - HYPH cord-014712-5u4e00q6 823 13 linked link VBN cord-014712-5u4e00q6 823 14 recessive recessive JJ cord-014712-5u4e00q6 823 15 immune immune JJ cord-014712-5u4e00q6 823 16 deficiency deficiency NN cord-014712-5u4e00q6 823 17 disorder disorder NN cord-014712-5u4e00q6 823 18 characterized characterize VBN cord-014712-5u4e00q6 823 19 by by IN cord-014712-5u4e00q6 823 20 thrombocytopenia thrombocytopenia NN cord-014712-5u4e00q6 823 21 , , , cord-014712-5u4e00q6 823 22 small small JJ cord-014712-5u4e00q6 823 23 platelet platelet NN cord-014712-5u4e00q6 823 24 size size NN cord-014712-5u4e00q6 823 25 , , , cord-014712-5u4e00q6 823 26 eczema eczema NN cord-014712-5u4e00q6 823 27 , , , cord-014712-5u4e00q6 823 28 recurrent recurrent JJ cord-014712-5u4e00q6 823 29 infections infection NNS cord-014712-5u4e00q6 823 30 , , , cord-014712-5u4e00q6 823 31 and and CC cord-014712-5u4e00q6 823 32 increased increase VBN cord-014712-5u4e00q6 823 33 risk risk NN cord-014712-5u4e00q6 823 34 of of IN cord-014712-5u4e00q6 823 35 autoimmune autoimmune JJ cord-014712-5u4e00q6 823 36 disorders disorder NNS cord-014712-5u4e00q6 823 37 and and CC cord-014712-5u4e00q6 823 38 malignancies malignancy NNS cord-014712-5u4e00q6 823 39 . . . cord-014712-5u4e00q6 824 1 WAS be VBD cord-014712-5u4e00q6 824 2 is be VBZ cord-014712-5u4e00q6 824 3 caused cause VBN cord-014712-5u4e00q6 824 4 by by IN cord-014712-5u4e00q6 824 5 mutations mutation NNS cord-014712-5u4e00q6 824 6 in in IN cord-014712-5u4e00q6 824 7 the the DT cord-014712-5u4e00q6 824 8 WASP WASP NNP cord-014712-5u4e00q6 824 9 gene gene NN cord-014712-5u4e00q6 824 10 which which WDT cord-014712-5u4e00q6 824 11 encodes encode VBZ cord-014712-5u4e00q6 824 12 WASP WASP NNP cord-014712-5u4e00q6 824 13 , , , cord-014712-5u4e00q6 824 14 a a DT cord-014712-5u4e00q6 824 15 502-amino 502-amino CD cord-014712-5u4e00q6 824 16 acid acid NN cord-014712-5u4e00q6 824 17 protein protein NN cord-014712-5u4e00q6 824 18 . . . cord-014712-5u4e00q6 825 1 WASP WASP NNP cord-014712-5u4e00q6 825 2 plays play VBZ cord-014712-5u4e00q6 825 3 a a DT cord-014712-5u4e00q6 825 4 critical critical JJ cord-014712-5u4e00q6 825 5 role role NN cord-014712-5u4e00q6 825 6 in in IN cord-014712-5u4e00q6 825 7 actin actin NN cord-014712-5u4e00q6 825 8 cytoskeleton cytoskeleton NN cord-014712-5u4e00q6 825 9 organization organization NN cord-014712-5u4e00q6 825 10 and and CC cord-014712-5u4e00q6 825 11 signalling signal VBG cord-014712-5u4e00q6 825 12 , , , cord-014712-5u4e00q6 825 13 and and CC cord-014712-5u4e00q6 825 14 functions function NNS cord-014712-5u4e00q6 825 15 of of IN cord-014712-5u4e00q6 825 16 immune immune JJ cord-014712-5u4e00q6 825 17 cells cell NNS cord-014712-5u4e00q6 825 18 . . . cord-014712-5u4e00q6 826 1 We -PRON- PRP cord-014712-5u4e00q6 826 2 present present VBP cord-014712-5u4e00q6 826 3 here here RB cord-014712-5u4e00q6 826 4 the the DT cord-014712-5u4e00q6 826 5 results result NNS cord-014712-5u4e00q6 826 6 of of IN cord-014712-5u4e00q6 826 7 genetic genetic JJ cord-014712-5u4e00q6 826 8 analysis analysis NN cord-014712-5u4e00q6 826 9 of of IN cord-014712-5u4e00q6 826 10 patients patient NNS cord-014712-5u4e00q6 826 11 with with IN cord-014712-5u4e00q6 826 12 WAS be VBD cord-014712-5u4e00q6 826 13 from from IN cord-014712-5u4e00q6 826 14 eleven eleven CD cord-014712-5u4e00q6 826 15 Eastern eastern JJ cord-014712-5u4e00q6 826 16 and and CC cord-014712-5u4e00q6 826 17 Central central JJ cord-014712-5u4e00q6 826 18 European european JJ cord-014712-5u4e00q6 826 19 ( ( -LRB- cord-014712-5u4e00q6 826 20 ECE ECE NNP cord-014712-5u4e00q6 826 21 ) ) -RRB- cord-014712-5u4e00q6 826 22 countries country NNS cord-014712-5u4e00q6 826 23 and and CC cord-014712-5u4e00q6 826 24 Turkey Turkey NNP cord-014712-5u4e00q6 826 25 . . . cord-014712-5u4e00q6 827 1 Clinical clinical JJ cord-014712-5u4e00q6 827 2 and and CC cord-014712-5u4e00q6 827 3 haematological haematological JJ cord-014712-5u4e00q6 827 4 information information NN cord-014712-5u4e00q6 827 5 of of IN cord-014712-5u4e00q6 827 6 87 87 CD cord-014712-5u4e00q6 827 7 affected affect VBN cord-014712-5u4e00q6 827 8 males male NNS cord-014712-5u4e00q6 827 9 and and CC cord-014712-5u4e00q6 827 10 48 48 CD cord-014712-5u4e00q6 827 11 carrier carrier NN cord-014712-5u4e00q6 827 12 females female NNS cord-014712-5u4e00q6 827 13 from from IN cord-014712-5u4e00q6 827 14 77 77 CD cord-014712-5u4e00q6 827 15 WAS be VBD cord-014712-5u4e00q6 827 16 families family NNS cord-014712-5u4e00q6 827 17 were be VBD cord-014712-5u4e00q6 827 18 collected collect VBN cord-014712-5u4e00q6 827 19 . . . cord-014712-5u4e00q6 828 1 The the DT cord-014712-5u4e00q6 828 2 WASP WASP NNP cord-014712-5u4e00q6 828 3 gene gene NN cord-014712-5u4e00q6 828 4 was be VBD cord-014712-5u4e00q6 828 5 sequenced sequence VBN cord-014712-5u4e00q6 828 6 from from IN cord-014712-5u4e00q6 828 7 genomic genomic JJ cord-014712-5u4e00q6 828 8 DNA dna NN cord-014712-5u4e00q6 828 9 of of IN cord-014712-5u4e00q6 828 10 patients patient NNS cord-014712-5u4e00q6 828 11 with with IN cord-014712-5u4e00q6 828 12 WAS be VBD cord-014712-5u4e00q6 828 13 , , , cord-014712-5u4e00q6 828 14 as as RB cord-014712-5u4e00q6 828 15 well well RB cord-014712-5u4e00q6 828 16 as as IN cord-014712-5u4e00q6 828 17 their -PRON- PRP$ cord-014712-5u4e00q6 828 18 family family NN cord-014712-5u4e00q6 828 19 members member NNS cord-014712-5u4e00q6 828 20 to to TO cord-014712-5u4e00q6 828 21 identify identify VB cord-014712-5u4e00q6 828 22 carriers carrier NNS cord-014712-5u4e00q6 828 23 . . . cord-014712-5u4e00q6 829 1 In in IN cord-014712-5u4e00q6 829 2 this this DT cord-014712-5u4e00q6 829 3 large large JJ cord-014712-5u4e00q6 829 4 cohort cohort NN cord-014712-5u4e00q6 829 5 , , , cord-014712-5u4e00q6 829 6 we -PRON- PRP cord-014712-5u4e00q6 829 7 identified identify VBD cord-014712-5u4e00q6 829 8 62 62 CD cord-014712-5u4e00q6 829 9 unique unique JJ cord-014712-5u4e00q6 829 10 mutations mutation NNS cord-014712-5u4e00q6 829 11 including include VBG cord-014712-5u4e00q6 829 12 17 17 CD cord-014712-5u4e00q6 829 13 novel novel JJ cord-014712-5u4e00q6 829 14 sequence sequence NN cord-014712-5u4e00q6 829 15 variants variant NNS cord-014712-5u4e00q6 829 16 . . . cord-014712-5u4e00q6 830 1 The the DT cord-014712-5u4e00q6 830 2 mutations mutation NNS cord-014712-5u4e00q6 830 3 were be VBD cord-014712-5u4e00q6 830 4 scattered scatter VBN cord-014712-5u4e00q6 830 5 throughout throughout IN cord-014712-5u4e00q6 830 6 the the DT cord-014712-5u4e00q6 830 7 WASP WASP NNP cord-014712-5u4e00q6 830 8 gene gene NN cord-014712-5u4e00q6 830 9 and and CC cord-014712-5u4e00q6 830 10 included include VBD cord-014712-5u4e00q6 830 11 single single JJ cord-014712-5u4e00q6 830 12 base base NN cord-014712-5u4e00q6 830 13 pair pair NN cord-014712-5u4e00q6 830 14 changes change NNS cord-014712-5u4e00q6 830 15 ( ( -LRB- cord-014712-5u4e00q6 830 16 17 17 CD cord-014712-5u4e00q6 830 17 missense missense NN cord-014712-5u4e00q6 830 18 and and CC cord-014712-5u4e00q6 830 19 11 11 CD cord-014712-5u4e00q6 830 20 nonsense nonsense NN cord-014712-5u4e00q6 830 21 mutations mutation NNS cord-014712-5u4e00q6 830 22 ) ) -RRB- cord-014712-5u4e00q6 830 23 , , , cord-014712-5u4e00q6 830 24 7 7 CD cord-014712-5u4e00q6 830 25 small small JJ cord-014712-5u4e00q6 830 26 insertions insertion NNS cord-014712-5u4e00q6 830 27 , , , cord-014712-5u4e00q6 830 28 18 18 CD cord-014712-5u4e00q6 830 29 deletions deletion NNS cord-014712-5u4e00q6 830 30 , , , cord-014712-5u4e00q6 830 31 and and CC cord-014712-5u4e00q6 830 32 9 9 CD cord-014712-5u4e00q6 830 33 splice splice NN cord-014712-5u4e00q6 830 34 site site NN cord-014712-5u4e00q6 830 35 defects defect NNS cord-014712-5u4e00q6 830 36 . . . cord-014712-5u4e00q6 831 1 Genetic genetic JJ cord-014712-5u4e00q6 831 2 counselling counselling NN cord-014712-5u4e00q6 831 3 and and CC cord-014712-5u4e00q6 831 4 prenatal prenatal JJ cord-014712-5u4e00q6 831 5 diagnosis diagnosis NN cord-014712-5u4e00q6 831 6 were be VBD cord-014712-5u4e00q6 831 7 applied apply VBN cord-014712-5u4e00q6 831 8 in in IN cord-014712-5u4e00q6 831 9 four four CD cord-014712-5u4e00q6 831 10 affected affect VBN cord-014712-5u4e00q6 831 11 families family NNS cord-014712-5u4e00q6 831 12 . . . cord-014712-5u4e00q6 832 1 Introduction introduction NN cord-014712-5u4e00q6 832 2 : : : cord-014712-5u4e00q6 833 1 MHC MHC NNP cord-014712-5u4e00q6 833 2 - - HYPH cord-014712-5u4e00q6 833 3 Class Class NNP cord-014712-5u4e00q6 833 4 II II NNP cord-014712-5u4e00q6 833 5 deficiency deficiency NN cord-014712-5u4e00q6 833 6 is be VBZ cord-014712-5u4e00q6 833 7 an an DT cord-014712-5u4e00q6 833 8 autosomal autosomal JJ cord-014712-5u4e00q6 833 9 recessively recessively RB cord-014712-5u4e00q6 833 10 inherited inherit VBN cord-014712-5u4e00q6 833 11 combined combine VBN cord-014712-5u4e00q6 833 12 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 833 13 disorder disorder NN cord-014712-5u4e00q6 833 14 characterized characterize VBN cord-014712-5u4e00q6 833 15 by by IN cord-014712-5u4e00q6 833 16 less less JJR cord-014712-5u4e00q6 833 17 than than IN cord-014712-5u4e00q6 833 18 5 5 CD cord-014712-5u4e00q6 833 19 % % NN cord-014712-5u4e00q6 833 20 expression expression NN cord-014712-5u4e00q6 833 21 of of IN cord-014712-5u4e00q6 833 22 HLA HLA NNP cord-014712-5u4e00q6 833 23 - - HYPH cord-014712-5u4e00q6 833 24 DR DR NNP cord-014712-5u4e00q6 833 25 on on IN cord-014712-5u4e00q6 833 26 B b NN cord-014712-5u4e00q6 833 27 cells cell NNS cord-014712-5u4e00q6 833 28 or or CC cord-014712-5u4e00q6 833 29 monocytes monocyte NNS cord-014712-5u4e00q6 833 30 . . . cord-014712-5u4e00q6 834 1 It -PRON- PRP cord-014712-5u4e00q6 834 2 is be VBZ cord-014712-5u4e00q6 834 3 caused cause VBN cord-014712-5u4e00q6 834 4 by by IN cord-014712-5u4e00q6 834 5 mutation mutation NN cord-014712-5u4e00q6 834 6 of of IN cord-014712-5u4e00q6 834 7 genes gene NNS cord-014712-5u4e00q6 834 8 ( ( -LRB- cord-014712-5u4e00q6 834 9 CIITA CIITA NNP cord-014712-5u4e00q6 834 10 , , , cord-014712-5u4e00q6 834 11 RFXANK RFXANK NNP cord-014712-5u4e00q6 834 12 , , , cord-014712-5u4e00q6 834 13 RFX5 RFX5 NNP cord-014712-5u4e00q6 834 14 , , , cord-014712-5u4e00q6 834 15 RFXAP RFXAP NNP cord-014712-5u4e00q6 834 16 ) ) -RRB- cord-014712-5u4e00q6 834 17 regulating regulate VBG cord-014712-5u4e00q6 834 18 transcription transcription NN cord-014712-5u4e00q6 834 19 factors factor NNS cord-014712-5u4e00q6 834 20 which which WDT cord-014712-5u4e00q6 834 21 controls control VBZ cord-014712-5u4e00q6 834 22 expression expression NN cord-014712-5u4e00q6 834 23 of of IN cord-014712-5u4e00q6 834 24 MHC MHC NNP cord-014712-5u4e00q6 834 25 - - HYPH cord-014712-5u4e00q6 834 26 Class Class NNP cord-014712-5u4e00q6 834 27 - - HYPH cord-014712-5u4e00q6 834 28 II II NNP cord-014712-5u4e00q6 834 29 molecules molecule NNS cord-014712-5u4e00q6 834 30 on on IN cord-014712-5u4e00q6 834 31 cell cell NN cord-014712-5u4e00q6 834 32 surface surface NN cord-014712-5u4e00q6 834 33 . . . cord-014712-5u4e00q6 835 1 MHC MHC NNP cord-014712-5u4e00q6 835 2 - - HYPH cord-014712-5u4e00q6 835 3 Class Class NNP cord-014712-5u4e00q6 835 4 II II NNP cord-014712-5u4e00q6 835 5 molecules molecule NNS cord-014712-5u4e00q6 835 6 are be VBP cord-014712-5u4e00q6 835 7 expressed express VBN cord-014712-5u4e00q6 835 8 on on IN cord-014712-5u4e00q6 835 9 thymic thymic JJ cord-014712-5u4e00q6 835 10 epithelial epithelial JJ cord-014712-5u4e00q6 835 11 cells cell NNS cord-014712-5u4e00q6 835 12 , , , cord-014712-5u4e00q6 835 13 antigen antigen NN cord-014712-5u4e00q6 835 14 presenting present VBG cord-014712-5u4e00q6 835 15 cells cell NNS cord-014712-5u4e00q6 835 16 ( ( -LRB- cord-014712-5u4e00q6 835 17 B b NN cord-014712-5u4e00q6 835 18 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 835 19 , , , cord-014712-5u4e00q6 835 20 dendritic dendritic JJ cord-014712-5u4e00q6 835 21 cells cell NNS cord-014712-5u4e00q6 835 22 , , , cord-014712-5u4e00q6 835 23 monocytes monocyte NNS cord-014712-5u4e00q6 835 24 and and CC cord-014712-5u4e00q6 835 25 macrophages macrophage NNS cord-014712-5u4e00q6 835 26 ) ) -RRB- cord-014712-5u4e00q6 835 27 and and CC cord-014712-5u4e00q6 835 28 activated activate VBD cord-014712-5u4e00q6 835 29 T T NNP cord-014712-5u4e00q6 835 30 cells cell NNS cord-014712-5u4e00q6 835 31 . . . cord-014712-5u4e00q6 836 1 These these DT cord-014712-5u4e00q6 836 2 molecules molecule NNS cord-014712-5u4e00q6 836 3 are be VBP cord-014712-5u4e00q6 836 4 of of IN cord-014712-5u4e00q6 836 5 critical critical JJ cord-014712-5u4e00q6 836 6 importance importance NN cord-014712-5u4e00q6 836 7 to to IN cord-014712-5u4e00q6 836 8 immunity immunity NN cord-014712-5u4e00q6 836 9 , , , cord-014712-5u4e00q6 836 10 CD4 CD4 NNP cord-014712-5u4e00q6 836 11 + + CC cord-014712-5u4e00q6 836 12 T T NNP cord-014712-5u4e00q6 836 13 cell cell NN cord-014712-5u4e00q6 836 14 development development NN cord-014712-5u4e00q6 836 15 , , , cord-014712-5u4e00q6 836 16 antibody antibody NN cord-014712-5u4e00q6 836 17 production production NN cord-014712-5u4e00q6 836 18 , , , cord-014712-5u4e00q6 836 19 tolerance tolerance NN cord-014712-5u4e00q6 836 20 induction induction NN cord-014712-5u4e00q6 836 21 and and CC cord-014712-5u4e00q6 836 22 inlammatory inlammatory NN cord-014712-5u4e00q6 836 23 response response NN cord-014712-5u4e00q6 836 24 . . . cord-014712-5u4e00q6 837 1 Consequently consequently RB cord-014712-5u4e00q6 837 2 , , , cord-014712-5u4e00q6 837 3 patients patient NNS cord-014712-5u4e00q6 837 4 present present JJ cord-014712-5u4e00q6 837 5 with with IN cord-014712-5u4e00q6 837 6 clinical clinical JJ cord-014712-5u4e00q6 837 7 findings finding NNS cord-014712-5u4e00q6 837 8 related relate VBN cord-014712-5u4e00q6 837 9 to to IN cord-014712-5u4e00q6 837 10 combined combine VBN cord-014712-5u4e00q6 837 11 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 837 12 during during IN cord-014712-5u4e00q6 837 13 infancy infancy NN cord-014712-5u4e00q6 837 14 . . . cord-014712-5u4e00q6 838 1 Material material NN cord-014712-5u4e00q6 838 2 and and CC cord-014712-5u4e00q6 838 3 Methods method NNS cord-014712-5u4e00q6 838 4 : : : cord-014712-5u4e00q6 838 5 Medical medical JJ cord-014712-5u4e00q6 838 6 records record NNS cord-014712-5u4e00q6 838 7 of of IN cord-014712-5u4e00q6 838 8 thirteen thirteen CD cord-014712-5u4e00q6 838 9 patients patient NNS cord-014712-5u4e00q6 838 10 with with IN cord-014712-5u4e00q6 838 11 MHC MHC NNP cord-014712-5u4e00q6 838 12 - - HYPH cord-014712-5u4e00q6 838 13 Class Class NNP cord-014712-5u4e00q6 838 14 II II NNP cord-014712-5u4e00q6 838 15 deficiency deficiency NN cord-014712-5u4e00q6 838 16 , , , cord-014712-5u4e00q6 838 17 followed follow VBN cord-014712-5u4e00q6 838 18 - - HYPH cord-014712-5u4e00q6 838 19 up up NN cord-014712-5u4e00q6 838 20 in in IN cord-014712-5u4e00q6 838 21 Ankara Ankara NNP cord-014712-5u4e00q6 838 22 University University NNP cord-014712-5u4e00q6 838 23 , , , cord-014712-5u4e00q6 838 24 Medical Medical NNP cord-014712-5u4e00q6 838 25 School School NNP cord-014712-5u4e00q6 838 26 , , , cord-014712-5u4e00q6 838 27 Division Division NNP cord-014712-5u4e00q6 838 28 of of IN cord-014712-5u4e00q6 838 29 Pediatric Pediatric NNP cord-014712-5u4e00q6 838 30 Immunology Immunology NNP cord-014712-5u4e00q6 838 31 / / SYM cord-014712-5u4e00q6 838 32 Allergy allergy NN cord-014712-5u4e00q6 838 33 from from IN cord-014712-5u4e00q6 838 34 1999 1999 CD cord-014712-5u4e00q6 838 35 to to IN cord-014712-5u4e00q6 838 36 2013 2013 CD cord-014712-5u4e00q6 838 37 , , , cord-014712-5u4e00q6 838 38 were be VBD cord-014712-5u4e00q6 838 39 evaluated evaluate VBN cord-014712-5u4e00q6 838 40 retrospectively retrospectively RB cord-014712-5u4e00q6 838 41 . . . cord-014712-5u4e00q6 839 1 Findings finding NNS cord-014712-5u4e00q6 839 2 : : : cord-014712-5u4e00q6 840 1 During during IN cord-014712-5u4e00q6 840 2 study study NN cord-014712-5u4e00q6 840 3 period period NN cord-014712-5u4e00q6 840 4 , , , cord-014712-5u4e00q6 840 5 6 6 CD cord-014712-5u4e00q6 840 6 male male NN cord-014712-5u4e00q6 840 7 and and CC cord-014712-5u4e00q6 840 8 7 7 CD cord-014712-5u4e00q6 840 9 female female JJ cord-014712-5u4e00q6 840 10 patients patient NNS cord-014712-5u4e00q6 840 11 were be VBD cord-014712-5u4e00q6 840 12 diagnosed diagnose VBN cord-014712-5u4e00q6 840 13 with with IN cord-014712-5u4e00q6 840 14 MHC MHC NNP cord-014712-5u4e00q6 840 15 - - HYPH cord-014712-5u4e00q6 840 16 Class Class NNP cord-014712-5u4e00q6 840 17 II II NNP cord-014712-5u4e00q6 840 18 deficiency deficiency NN cord-014712-5u4e00q6 840 19 . . . cord-014712-5u4e00q6 841 1 Age age NN cord-014712-5u4e00q6 841 2 of of IN cord-014712-5u4e00q6 841 3 diagnosis diagnosis NN cord-014712-5u4e00q6 841 4 were be VBD cord-014712-5u4e00q6 841 5 between between IN cord-014712-5u4e00q6 841 6 3 3 CD cord-014712-5u4e00q6 841 7 months month NNS cord-014712-5u4e00q6 841 8 and and CC cord-014712-5u4e00q6 841 9 4 4 CD cord-014712-5u4e00q6 841 10 years year NNS cord-014712-5u4e00q6 841 11 of of IN cord-014712-5u4e00q6 841 12 age age NN cord-014712-5u4e00q6 841 13 . . . cord-014712-5u4e00q6 842 1 Consanguinity Consanguinity NNP cord-014712-5u4e00q6 842 2 were be VBD cord-014712-5u4e00q6 842 3 present present JJ cord-014712-5u4e00q6 842 4 in in IN cord-014712-5u4e00q6 842 5 eleven eleven CD cord-014712-5u4e00q6 842 6 out out IN cord-014712-5u4e00q6 842 7 of of IN cord-014712-5u4e00q6 842 8 thirteen thirteen CD cord-014712-5u4e00q6 842 9 patients patient NNS cord-014712-5u4e00q6 842 10 . . . cord-014712-5u4e00q6 843 1 Most most RBS cord-014712-5u4e00q6 843 2 frequent frequent JJ cord-014712-5u4e00q6 843 3 clinical clinical JJ cord-014712-5u4e00q6 843 4 findings finding NNS cord-014712-5u4e00q6 843 5 during during IN cord-014712-5u4e00q6 843 6 initial initial JJ cord-014712-5u4e00q6 843 7 diagnosis diagnosis NN cord-014712-5u4e00q6 843 8 were be VBD cord-014712-5u4e00q6 843 9 failure failure NN cord-014712-5u4e00q6 843 10 to to TO cord-014712-5u4e00q6 843 11 thrive thrive VB cord-014712-5u4e00q6 843 12 , , , cord-014712-5u4e00q6 843 13 pneumonia pneumonia NN cord-014712-5u4e00q6 843 14 and and CC cord-014712-5u4e00q6 843 15 oral oral JJ cord-014712-5u4e00q6 843 16 moniliasis moniliasis NNP cord-014712-5u4e00q6 843 17 . . . cord-014712-5u4e00q6 844 1 Lymphopenia Lymphopenia NNP cord-014712-5u4e00q6 844 2 was be VBD cord-014712-5u4e00q6 844 3 absent absent JJ cord-014712-5u4e00q6 844 4 in in IN cord-014712-5u4e00q6 844 5 all all DT cord-014712-5u4e00q6 844 6 of of IN cord-014712-5u4e00q6 844 7 the the DT cord-014712-5u4e00q6 844 8 patients patient NNS cord-014712-5u4e00q6 844 9 , , , cord-014712-5u4e00q6 844 10 however however RB cord-014712-5u4e00q6 844 11 , , , cord-014712-5u4e00q6 844 12 low low JJ cord-014712-5u4e00q6 844 13 serum serum NN cord-014712-5u4e00q6 844 14 IgG igg NN cord-014712-5u4e00q6 844 15 level level NN cord-014712-5u4e00q6 844 16 was be VBD cord-014712-5u4e00q6 844 17 present present JJ cord-014712-5u4e00q6 844 18 in in IN cord-014712-5u4e00q6 844 19 all all DT cord-014712-5u4e00q6 844 20 of of IN cord-014712-5u4e00q6 844 21 them -PRON- PRP cord-014712-5u4e00q6 844 22 . . . cord-014712-5u4e00q6 845 1 Except except IN cord-014712-5u4e00q6 845 2 for for IN cord-014712-5u4e00q6 845 3 the the DT cord-014712-5u4e00q6 845 4 15 15 CD cord-014712-5u4e00q6 845 5 yo yo NN cord-014712-5u4e00q6 845 6 female female JJ cord-014712-5u4e00q6 845 7 patient patient NN cord-014712-5u4e00q6 845 8 with with IN cord-014712-5u4e00q6 845 9 a a DT cord-014712-5u4e00q6 845 10 positive positive JJ cord-014712-5u4e00q6 845 11 family family NN cord-014712-5u4e00q6 845 12 history history NN cord-014712-5u4e00q6 845 13 and and CC cord-014712-5u4e00q6 845 14 whose whose WP$ cord-014712-5u4e00q6 845 15 HLA HLA NNP cord-014712-5u4e00q6 845 16 - - HYPH cord-014712-5u4e00q6 845 17 DR DR NNP cord-014712-5u4e00q6 845 18 expression expression NN cord-014712-5u4e00q6 845 19 was be VBD cord-014712-5u4e00q6 845 20 0,2 0,2 CD cord-014712-5u4e00q6 845 21 % % NN cord-014712-5u4e00q6 845 22 , , , cord-014712-5u4e00q6 845 23 HLA HLA NNP cord-014712-5u4e00q6 845 24 - - HYPH cord-014712-5u4e00q6 845 25 DR DR NNP cord-014712-5u4e00q6 845 26 expression expression NN cord-014712-5u4e00q6 845 27 was be VBD cord-014712-5u4e00q6 845 28 0 0 CD cord-014712-5u4e00q6 845 29 % % NN cord-014712-5u4e00q6 845 30 in in IN cord-014712-5u4e00q6 845 31 the the DT cord-014712-5u4e00q6 845 32 rest rest NN cord-014712-5u4e00q6 845 33 of of IN cord-014712-5u4e00q6 845 34 the the DT cord-014712-5u4e00q6 845 35 patients patient NNS cord-014712-5u4e00q6 845 36 . . . cord-014712-5u4e00q6 846 1 Eight eight CD cord-014712-5u4e00q6 846 2 patients patient NNS cord-014712-5u4e00q6 846 3 underwent undergo VBD cord-014712-5u4e00q6 846 4 hematopoietic hematopoietic JJ cord-014712-5u4e00q6 846 5 stem stem NN cord-014712-5u4e00q6 846 6 cell cell NN cord-014712-5u4e00q6 846 7 transplantation transplantation NN cord-014712-5u4e00q6 846 8 ( ( -LRB- cord-014712-5u4e00q6 846 9 HSCT HSCT NNP cord-014712-5u4e00q6 846 10 ) ) -RRB- cord-014712-5u4e00q6 846 11 . . . cord-014712-5u4e00q6 847 1 Two two CD cord-014712-5u4e00q6 847 2 patients patient NNS cord-014712-5u4e00q6 847 3 were be VBD cord-014712-5u4e00q6 847 4 lost lose VBN cord-014712-5u4e00q6 847 5 soon soon RB cord-014712-5u4e00q6 847 6 after after IN cord-014712-5u4e00q6 847 7 HSCT HSCT NNP cord-014712-5u4e00q6 847 8 due due IN cord-014712-5u4e00q6 847 9 to to IN cord-014712-5u4e00q6 847 10 complications complication NNS cord-014712-5u4e00q6 847 11 and and CC cord-014712-5u4e00q6 847 12 three three CD cord-014712-5u4e00q6 847 13 patients patient NNS cord-014712-5u4e00q6 847 14 died die VBD cord-014712-5u4e00q6 847 15 of of IN cord-014712-5u4e00q6 847 16 opportunistic opportunistic JJ cord-014712-5u4e00q6 847 17 infections infection NNS cord-014712-5u4e00q6 847 18 . . . cord-014712-5u4e00q6 848 1 Four four CD cord-014712-5u4e00q6 848 2 patients patient NNS cord-014712-5u4e00q6 848 3 died die VBD cord-014712-5u4e00q6 848 4 of of IN cord-014712-5u4e00q6 848 5 severe severe JJ cord-014712-5u4e00q6 848 6 opportunistic opportunistic JJ cord-014712-5u4e00q6 848 7 infections infection NNS cord-014712-5u4e00q6 848 8 without without IN cord-014712-5u4e00q6 848 9 underwent undergo VBD cord-014712-5u4e00q6 848 10 HSCT HSCT NNP cord-014712-5u4e00q6 848 11 . . . cord-014712-5u4e00q6 849 1 Results result NNS cord-014712-5u4e00q6 849 2 : : : cord-014712-5u4e00q6 850 1 MHC MHC NNP cord-014712-5u4e00q6 850 2 - - HYPH cord-014712-5u4e00q6 850 3 Class Class NNP cord-014712-5u4e00q6 850 4 II II NNP cord-014712-5u4e00q6 850 5 deficiency deficiency NN cord-014712-5u4e00q6 850 6 is be VBZ cord-014712-5u4e00q6 850 7 a a DT cord-014712-5u4e00q6 850 8 combined combine VBN cord-014712-5u4e00q6 850 9 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 850 10 and and CC cord-014712-5u4e00q6 850 11 not not RB cord-014712-5u4e00q6 850 12 considered consider VBN cord-014712-5u4e00q6 850 13 a a DT cord-014712-5u4e00q6 850 14 rare rare JJ cord-014712-5u4e00q6 850 15 disease disease NN cord-014712-5u4e00q6 850 16 in in IN cord-014712-5u4e00q6 850 17 our -PRON- PRP$ cord-014712-5u4e00q6 850 18 country country NN cord-014712-5u4e00q6 850 19 . . . cord-014712-5u4e00q6 851 1 To to IN cord-014712-5u4e00q6 851 2 date date NN cord-014712-5u4e00q6 851 3 , , , cord-014712-5u4e00q6 851 4 only only RB cord-014712-5u4e00q6 851 5 known know VBN cord-014712-5u4e00q6 851 6 treatment treatment NN cord-014712-5u4e00q6 851 7 is be VBZ cord-014712-5u4e00q6 851 8 HSCT HSCT NNP cord-014712-5u4e00q6 851 9 . . . cord-014712-5u4e00q6 852 1 Since since IN cord-014712-5u4e00q6 852 2 it -PRON- PRP cord-014712-5u4e00q6 852 3 has have VBZ cord-014712-5u4e00q6 852 4 poor poor JJ cord-014712-5u4e00q6 852 5 prognosis prognosis NN cord-014712-5u4e00q6 852 6 , , , cord-014712-5u4e00q6 852 7 HSCT HSCT NNP cord-014712-5u4e00q6 852 8 should should MD cord-014712-5u4e00q6 852 9 be be VB cord-014712-5u4e00q6 852 10 performed perform VBN cord-014712-5u4e00q6 852 11 before before IN cord-014712-5u4e00q6 852 12 development development NN cord-014712-5u4e00q6 852 13 of of IN cord-014712-5u4e00q6 852 14 chronic chronic JJ cord-014712-5u4e00q6 852 15 viral viral JJ cord-014712-5u4e00q6 852 16 infections infection NNS cord-014712-5u4e00q6 852 17 and and CC cord-014712-5u4e00q6 852 18 sequelae sequela NNS cord-014712-5u4e00q6 852 19 related relate VBN cord-014712-5u4e00q6 852 20 to to IN cord-014712-5u4e00q6 852 21 infections infection NNS cord-014712-5u4e00q6 852 22 in in IN cord-014712-5u4e00q6 852 23 patients patient NNS cord-014712-5u4e00q6 852 24 who who WP cord-014712-5u4e00q6 852 25 have have VBP cord-014712-5u4e00q6 852 26 HLA HLA NNP cord-014712-5u4e00q6 852 27 - - HYPH cord-014712-5u4e00q6 852 28 matched match VBN cord-014712-5u4e00q6 852 29 sibling sibling NN cord-014712-5u4e00q6 852 30 . . . cord-014712-5u4e00q6 853 1 Fatih Fatih NNP cord-014712-5u4e00q6 853 2 Celmeli Celmeli NNP cord-014712-5u4e00q6 853 3 1 1 CD cord-014712-5u4e00q6 853 4 ; ; : cord-014712-5u4e00q6 853 5 Giancarlo Giancarlo NNP cord-014712-5u4e00q6 853 6 la la NNP cord-014712-5u4e00q6 853 7 Marca Marca NNP cord-014712-5u4e00q6 853 8 2 2 CD cord-014712-5u4e00q6 853 9 ; ; : cord-014712-5u4e00q6 853 10 Ines Ines NNP cord-014712-5u4e00q6 853 11 Santisteban Santisteban NNP cord-014712-5u4e00q6 853 12 3 3 CD cord-014712-5u4e00q6 853 13 ; ; : cord-014712-5u4e00q6 853 14 Michael Michael NNP cord-014712-5u4e00q6 853 15 S. S. NNP cord-014712-5u4e00q6 853 16 Hershfield Hershfield NNP cord-014712-5u4e00q6 853 17 3 3 CD cord-014712-5u4e00q6 853 18 1 1 CD cord-014712-5u4e00q6 854 1 Purine Purine NNP cord-014712-5u4e00q6 854 2 nucleoside nucleoside NN cord-014712-5u4e00q6 854 3 phosphorylase phosphorylase NN cord-014712-5u4e00q6 854 4 deficiency deficiency NN cord-014712-5u4e00q6 854 5 ( ( -LRB- cord-014712-5u4e00q6 854 6 PNP PNP NNP cord-014712-5u4e00q6 854 7 deficiency deficiency NN cord-014712-5u4e00q6 854 8 ) ) -RRB- cord-014712-5u4e00q6 854 9 is be VBZ cord-014712-5u4e00q6 854 10 a a DT cord-014712-5u4e00q6 854 11 rare rare JJ cord-014712-5u4e00q6 854 12 autosomal autosomal JJ cord-014712-5u4e00q6 854 13 recessively recessively RB cord-014712-5u4e00q6 854 14 inherited inherit VBN cord-014712-5u4e00q6 854 15 type type NN cord-014712-5u4e00q6 854 16 of of IN cord-014712-5u4e00q6 854 17 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 854 18 . . . cord-014712-5u4e00q6 855 1 PNP PNP NNP cord-014712-5u4e00q6 855 2 deficiency deficiency NN cord-014712-5u4e00q6 855 3 constitutes constitute VBZ cord-014712-5u4e00q6 855 4 about about RB cord-014712-5u4e00q6 855 5 1 1 CD cord-014712-5u4e00q6 855 6 to to IN cord-014712-5u4e00q6 855 7 2 2 CD cord-014712-5u4e00q6 855 8 percent percent NN cord-014712-5u4e00q6 855 9 of of IN cord-014712-5u4e00q6 855 10 all all DT cord-014712-5u4e00q6 855 11 combined combine VBN cord-014712-5u4e00q6 855 12 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 855 13 . . . cord-014712-5u4e00q6 856 1 It -PRON- PRP cord-014712-5u4e00q6 856 2 is be VBZ cord-014712-5u4e00q6 856 3 characterized characterize VBN cord-014712-5u4e00q6 856 4 by by IN cord-014712-5u4e00q6 856 5 progressive progressive JJ cord-014712-5u4e00q6 856 6 combined combine VBN cord-014712-5u4e00q6 856 7 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 856 8 and and CC cord-014712-5u4e00q6 856 9 neurologic neurologic JJ cord-014712-5u4e00q6 856 10 findings finding NNS cord-014712-5u4e00q6 856 11 which which WDT cord-014712-5u4e00q6 856 12 includes include VBZ cord-014712-5u4e00q6 856 13 ataxia ataxia NN cord-014712-5u4e00q6 856 14 , , , cord-014712-5u4e00q6 856 15 developmental developmental JJ cord-014712-5u4e00q6 856 16 delay delay NN cord-014712-5u4e00q6 856 17 , , , cord-014712-5u4e00q6 856 18 and and CC cord-014712-5u4e00q6 856 19 spasticity spasticity NN cord-014712-5u4e00q6 856 20 . . . cord-014712-5u4e00q6 857 1 The the DT cord-014712-5u4e00q6 857 2 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 857 3 is be VBZ cord-014712-5u4e00q6 857 4 progressive progressive JJ cord-014712-5u4e00q6 857 5 , , , cord-014712-5u4e00q6 857 6 with with IN cord-014712-5u4e00q6 857 7 normal normal JJ cord-014712-5u4e00q6 857 8 immune immune JJ cord-014712-5u4e00q6 857 9 functions function NNS cord-014712-5u4e00q6 857 10 at at IN cord-014712-5u4e00q6 857 11 birth birth NN cord-014712-5u4e00q6 857 12 , , , cord-014712-5u4e00q6 857 13 but but CC cord-014712-5u4e00q6 857 14 severe severe JJ cord-014712-5u4e00q6 857 15 T t NN cord-014712-5u4e00q6 857 16 cell cell NN cord-014712-5u4e00q6 857 17 deficiency deficiency NN cord-014712-5u4e00q6 857 18 with with IN cord-014712-5u4e00q6 857 19 variable variable JJ cord-014712-5u4e00q6 857 20 B b NN cord-014712-5u4e00q6 857 21 cell cell NN cord-014712-5u4e00q6 857 22 functions function NNS cord-014712-5u4e00q6 857 23 presented present VBN cord-014712-5u4e00q6 857 24 by by IN cord-014712-5u4e00q6 857 25 the the DT cord-014712-5u4e00q6 857 26 age age NN cord-014712-5u4e00q6 857 27 of of IN cord-014712-5u4e00q6 857 28 2 2 CD cord-014712-5u4e00q6 857 29 years year NNS cord-014712-5u4e00q6 857 30 . . . cord-014712-5u4e00q6 858 1 The the DT cord-014712-5u4e00q6 858 2 only only JJ cord-014712-5u4e00q6 858 3 curative curative JJ cord-014712-5u4e00q6 858 4 treatment treatment NN cord-014712-5u4e00q6 858 5 is be VBZ cord-014712-5u4e00q6 858 6 the the DT cord-014712-5u4e00q6 858 7 hematopoietic hematopoietic JJ cord-014712-5u4e00q6 858 8 stem stem NN cord-014712-5u4e00q6 858 9 cell cell NN cord-014712-5u4e00q6 858 10 transplantation transplantation NN cord-014712-5u4e00q6 858 11 ( ( -LRB- cord-014712-5u4e00q6 858 12 HSCT HSCT NNP cord-014712-5u4e00q6 858 13 ) ) -RRB- cord-014712-5u4e00q6 858 14 . . . cord-014712-5u4e00q6 859 1 Here here RB cord-014712-5u4e00q6 859 2 , , , cord-014712-5u4e00q6 859 3 we -PRON- PRP cord-014712-5u4e00q6 859 4 present present VBP cord-014712-5u4e00q6 859 5 a a DT cord-014712-5u4e00q6 859 6 14 14 CD cord-014712-5u4e00q6 859 7 year year NN cord-014712-5u4e00q6 859 8 - - HYPH cord-014712-5u4e00q6 859 9 old old JJ cord-014712-5u4e00q6 859 10 girl girl NN cord-014712-5u4e00q6 859 11 with with IN cord-014712-5u4e00q6 859 12 recurrent recurrent JJ cord-014712-5u4e00q6 859 13 respiratory respiratory JJ cord-014712-5u4e00q6 859 14 tract tract NN cord-014712-5u4e00q6 859 15 infections infection NNS cord-014712-5u4e00q6 859 16 , , , cord-014712-5u4e00q6 859 17 short short JJ cord-014712-5u4e00q6 859 18 stature stature NN cord-014712-5u4e00q6 859 19 and and CC cord-014712-5u4e00q6 859 20 spastic spastic JJ cord-014712-5u4e00q6 859 21 paraplegia paraplegia NN cord-014712-5u4e00q6 859 22 . . . cord-014712-5u4e00q6 860 1 Immunological immunological JJ cord-014712-5u4e00q6 860 2 , , , cord-014712-5u4e00q6 860 3 biochemically biochemically RB cord-014712-5u4e00q6 860 4 and and CC cord-014712-5u4e00q6 860 5 genetics genetics NN cord-014712-5u4e00q6 860 6 investigation investigation NN cord-014712-5u4e00q6 860 7 revealed reveal VBD cord-014712-5u4e00q6 860 8 PNP PNP NNP cord-014712-5u4e00q6 860 9 deficiency deficiency NN cord-014712-5u4e00q6 860 10 with with IN cord-014712-5u4e00q6 860 11 A117 A117 NNP cord-014712-5u4e00q6 860 12 T T NNP cord-014712-5u4e00q6 860 13 mutation mutation NN cord-014712-5u4e00q6 860 14 in in IN cord-014712-5u4e00q6 860 15 PNP PNP NNP cord-014712-5u4e00q6 860 16 gene gene NN cord-014712-5u4e00q6 860 17 . . . cord-014712-5u4e00q6 861 1 Case case NN cord-014712-5u4e00q6 861 2 report report NN cord-014712-5u4e00q6 861 3 : : : cord-014712-5u4e00q6 861 4 A a DT cord-014712-5u4e00q6 861 5 14 14 CD cord-014712-5u4e00q6 861 6 years year NNS cord-014712-5u4e00q6 861 7 - - HYPH cord-014712-5u4e00q6 861 8 old old JJ cord-014712-5u4e00q6 861 9 girl girl NN cord-014712-5u4e00q6 861 10 was be VBD cord-014712-5u4e00q6 861 11 referred refer VBN cord-014712-5u4e00q6 861 12 to to IN cord-014712-5u4e00q6 861 13 our -PRON- PRP$ cord-014712-5u4e00q6 861 14 pediatric pediatric JJ cord-014712-5u4e00q6 861 15 immunology immunology NN cord-014712-5u4e00q6 861 16 clinic clinic NN cord-014712-5u4e00q6 861 17 for for IN cord-014712-5u4e00q6 861 18 recurrent recurrent JJ cord-014712-5u4e00q6 861 19 sinopulmonary sinopulmonary JJ cord-014712-5u4e00q6 861 20 infections infection NNS cord-014712-5u4e00q6 861 21 since since IN cord-014712-5u4e00q6 861 22 6 6 CD cord-014712-5u4e00q6 861 23 year year NN cord-014712-5u4e00q6 861 24 of of IN cord-014712-5u4e00q6 861 25 age age NN cord-014712-5u4e00q6 861 26 . . . cord-014712-5u4e00q6 862 1 She -PRON- PRP cord-014712-5u4e00q6 862 2 was be VBD cord-014712-5u4e00q6 862 3 full full JJ cord-014712-5u4e00q6 862 4 term term NN cord-014712-5u4e00q6 862 5 neonate neonate NN cord-014712-5u4e00q6 862 6 and and CC cord-014712-5u4e00q6 862 7 her -PRON- PRP$ cord-014712-5u4e00q6 862 8 parents parent NNS cord-014712-5u4e00q6 862 9 were be VBD cord-014712-5u4e00q6 862 10 not not RB cord-014712-5u4e00q6 862 11 consanguineous consanguineous JJ cord-014712-5u4e00q6 862 12 . . . cord-014712-5u4e00q6 863 1 She -PRON- PRP cord-014712-5u4e00q6 863 2 had have VBD cord-014712-5u4e00q6 863 3 a a DT cord-014712-5u4e00q6 863 4 history history NN cord-014712-5u4e00q6 863 5 of of IN cord-014712-5u4e00q6 863 6 prolonged prolonged JJ cord-014712-5u4e00q6 863 7 and and CC cord-014712-5u4e00q6 863 8 resistant resistant JJ cord-014712-5u4e00q6 863 9 bronchopneumonia bronchopneumonia NN cord-014712-5u4e00q6 863 10 , , , cord-014712-5u4e00q6 863 11 and and CC cord-014712-5u4e00q6 863 12 an an DT cord-014712-5u4e00q6 863 13 attack attack NN cord-014712-5u4e00q6 863 14 of of IN cord-014712-5u4e00q6 863 15 generalized generalized JJ cord-014712-5u4e00q6 863 16 chickenpox chickenpox NN cord-014712-5u4e00q6 863 17 complicated complicate VBN cord-014712-5u4e00q6 863 18 with with IN cord-014712-5u4e00q6 863 19 pneumonia pneumonia NN cord-014712-5u4e00q6 863 20 . . . cord-014712-5u4e00q6 864 1 She -PRON- PRP cord-014712-5u4e00q6 864 2 had have VBD cord-014712-5u4e00q6 864 3 also also RB cord-014712-5u4e00q6 864 4 severe severe JJ cord-014712-5u4e00q6 864 5 zona zona NNP cord-014712-5u4e00q6 864 6 infection infection NN cord-014712-5u4e00q6 864 7 resolved resolve VBN cord-014712-5u4e00q6 864 8 with with IN cord-014712-5u4e00q6 864 9 ulceration ulceration NN cord-014712-5u4e00q6 864 10 in in IN cord-014712-5u4e00q6 864 11 cornea cornea NN cord-014712-5u4e00q6 864 12 , , , cord-014712-5u4e00q6 864 13 one one CD cord-014712-5u4e00q6 864 14 year year NN cord-014712-5u4e00q6 864 15 ago ago RB cord-014712-5u4e00q6 864 16 . . . cord-014712-5u4e00q6 865 1 She -PRON- PRP cord-014712-5u4e00q6 865 2 has have VBZ cord-014712-5u4e00q6 865 3 been be VBN cord-014712-5u4e00q6 865 4 suffering suffer VBG cord-014712-5u4e00q6 865 5 from from IN cord-014712-5u4e00q6 865 6 frequent frequent JJ cord-014712-5u4e00q6 865 7 infections infection NNS cord-014712-5u4e00q6 865 8 like like IN cord-014712-5u4e00q6 865 9 chronic chronic JJ cord-014712-5u4e00q6 865 10 sinusitis sinusitis NN cord-014712-5u4e00q6 865 11 , , , cord-014712-5u4e00q6 865 12 oral oral JJ cord-014712-5u4e00q6 865 13 moniliasis moniliasis NN cord-014712-5u4e00q6 865 14 , , , cord-014712-5u4e00q6 865 15 recurrent recurrent JJ cord-014712-5u4e00q6 865 16 pneumonia pneumonia NN cord-014712-5u4e00q6 865 17 and and CC cord-014712-5u4e00q6 865 18 sclerosing sclerosing NN cord-014712-5u4e00q6 865 19 cholangitis cholangitis NN cord-014712-5u4e00q6 865 20 . . . cord-014712-5u4e00q6 866 1 She -PRON- PRP cord-014712-5u4e00q6 866 2 has have VBZ cord-014712-5u4e00q6 866 3 also also RB cord-014712-5u4e00q6 866 4 nonprogressive nonprogressive JJ cord-014712-5u4e00q6 866 5 cerebral cerebral JJ cord-014712-5u4e00q6 866 6 palsy palsy JJ cord-014712-5u4e00q6 866 7 , , , cord-014712-5u4e00q6 866 8 spastic spastic JJ cord-014712-5u4e00q6 866 9 paraplegia paraplegia NN cord-014712-5u4e00q6 866 10 , , , cord-014712-5u4e00q6 866 11 behavioral behavioral JJ cord-014712-5u4e00q6 866 12 problems problem NNS cord-014712-5u4e00q6 866 13 and and CC cord-014712-5u4e00q6 866 14 limited limited JJ cord-014712-5u4e00q6 866 15 motor motor NN cord-014712-5u4e00q6 866 16 and and CC cord-014712-5u4e00q6 866 17 mental mental JJ cord-014712-5u4e00q6 866 18 retardation retardation NN cord-014712-5u4e00q6 866 19 . . . cord-014712-5u4e00q6 867 1 There there EX cord-014712-5u4e00q6 867 2 was be VBD cord-014712-5u4e00q6 867 3 no no DT cord-014712-5u4e00q6 867 4 family family NN cord-014712-5u4e00q6 867 5 history history NN cord-014712-5u4e00q6 867 6 of of IN cord-014712-5u4e00q6 867 7 recurrent recurrent JJ cord-014712-5u4e00q6 867 8 infections infection NNS cord-014712-5u4e00q6 867 9 or or CC cord-014712-5u4e00q6 867 10 immunological immunological JJ cord-014712-5u4e00q6 867 11 disorders disorder NNS cord-014712-5u4e00q6 867 12 . . . cord-014712-5u4e00q6 868 1 On on IN cord-014712-5u4e00q6 868 2 her -PRON- PRP$ cord-014712-5u4e00q6 868 3 physical physical JJ cord-014712-5u4e00q6 868 4 examination examination NN cord-014712-5u4e00q6 868 5 , , , cord-014712-5u4e00q6 868 6 there there EX cord-014712-5u4e00q6 868 7 was be VBD cord-014712-5u4e00q6 868 8 failure failure NN cord-014712-5u4e00q6 868 9 to to TO cord-014712-5u4e00q6 868 10 thrive thrive VB cord-014712-5u4e00q6 868 11 , , , cord-014712-5u4e00q6 868 12 ( ( -LRB- cord-014712-5u4e00q6 868 13 her -PRON- PRP$ cord-014712-5u4e00q6 868 14 weight weight NN cord-014712-5u4e00q6 868 15 and and CC cord-014712-5u4e00q6 868 16 height height NN cord-014712-5u4e00q6 868 17 <3 <3 NNP cord-014712-5u4e00q6 868 18 rd rd NNP cord-014712-5u4e00q6 868 19 p p NNP cord-014712-5u4e00q6 868 20 ) ) -RRB- cord-014712-5u4e00q6 868 21 oral oral JJ cord-014712-5u4e00q6 868 22 moniliasis moniliasis NNP cord-014712-5u4e00q6 868 23 , , , cord-014712-5u4e00q6 868 24 bilateral bilateral JJ cord-014712-5u4e00q6 868 25 crepitus crepitus NN cord-014712-5u4e00q6 868 26 ralls ralls NNP cord-014712-5u4e00q6 868 27 , , , cord-014712-5u4e00q6 868 28 and and CC cord-014712-5u4e00q6 868 29 splenomegaly splenomegaly NN cord-014712-5u4e00q6 868 30 . . . cord-014712-5u4e00q6 869 1 She -PRON- PRP cord-014712-5u4e00q6 869 2 has have VBZ cord-014712-5u4e00q6 869 3 also also RB cord-014712-5u4e00q6 869 4 marked mark VBN cord-014712-5u4e00q6 869 5 spasticity spasticity NN cord-014712-5u4e00q6 869 6 with with IN cord-014712-5u4e00q6 869 7 brisk brisk JJ cord-014712-5u4e00q6 869 8 reflexes reflex NNS cord-014712-5u4e00q6 869 9 in in IN cord-014712-5u4e00q6 869 10 lower low JJR cord-014712-5u4e00q6 869 11 extremities extremity NNS cord-014712-5u4e00q6 869 12 . . . cord-014712-5u4e00q6 870 1 Laboratory laboratory NN cord-014712-5u4e00q6 870 2 tests test NNS cord-014712-5u4e00q6 870 3 revealed reveal VBD cord-014712-5u4e00q6 870 4 lymphopenia lymphopenia NNP cord-014712-5u4e00q6 870 5 : : : cord-014712-5u4e00q6 870 6 hemoglobin hemoglobin NN cord-014712-5u4e00q6 870 7 11 11 CD cord-014712-5u4e00q6 870 8 g g NN cord-014712-5u4e00q6 870 9 / / SYM cord-014712-5u4e00q6 870 10 dl dl NN cord-014712-5u4e00q6 870 11 and and CC cord-014712-5u4e00q6 870 12 platelets platelet NNS cord-014712-5u4e00q6 870 13 158000 158000 CD cord-014712-5u4e00q6 870 14 / / SYM cord-014712-5u4e00q6 870 15 mm mm NN cord-014712-5u4e00q6 870 16 3 3 CD cord-014712-5u4e00q6 871 1 WBC WBC NNP cord-014712-5u4e00q6 871 2 4000 4000 CD cord-014712-5u4e00q6 871 3 / / SYM cord-014712-5u4e00q6 871 4 mm mm NNP cord-014712-5u4e00q6 871 5 3 3 CD cord-014712-5u4e00q6 871 6 , , , cord-014712-5u4e00q6 871 7 absolute absolute JJ cord-014712-5u4e00q6 871 8 lymphocyte lymphocyte NN cord-014712-5u4e00q6 871 9 560 560 CD cord-014712-5u4e00q6 871 10 / / SYM cord-014712-5u4e00q6 871 11 mm mm NN cord-014712-5u4e00q6 871 12 3 3 CD cord-014712-5u4e00q6 871 13 . . . cord-014712-5u4e00q6 872 1 The the DT cord-014712-5u4e00q6 872 2 laboratory laboratory NN cord-014712-5u4e00q6 872 3 results result NNS cord-014712-5u4e00q6 872 4 are be VBP cord-014712-5u4e00q6 872 5 shown show VBN cord-014712-5u4e00q6 872 6 in in IN cord-014712-5u4e00q6 872 7 the the DT cord-014712-5u4e00q6 872 8 table table NN cord-014712-5u4e00q6 872 9 . . . cord-014712-5u4e00q6 873 1 Lymphocyte lymphocyte NN cord-014712-5u4e00q6 873 2 proliferation proliferation NN cord-014712-5u4e00q6 873 3 is be VBZ cord-014712-5u4e00q6 873 4 lower low JJR cord-014712-5u4e00q6 873 5 than than IN cord-014712-5u4e00q6 873 6 normal normal JJ cord-014712-5u4e00q6 873 7 limits limit NNS cord-014712-5u4e00q6 873 8 in in IN cord-014712-5u4e00q6 873 9 response response NN cord-014712-5u4e00q6 873 10 to to IN cord-014712-5u4e00q6 873 11 PHA PHA NNP cord-014712-5u4e00q6 873 12 stimulation stimulation NN cord-014712-5u4e00q6 873 13 ( ( -LRB- cord-014712-5u4e00q6 873 14 WST1 wst1 JJ cord-014712-5u4e00q6 873 15 assay assay NN cord-014712-5u4e00q6 873 16 ) ) -RRB- cord-014712-5u4e00q6 873 17 . . . cord-014712-5u4e00q6 874 1 PPD PPD NNP cord-014712-5u4e00q6 874 2 response response NN cord-014712-5u4e00q6 874 3 and and CC cord-014712-5u4e00q6 874 4 HIV HIV NNP cord-014712-5u4e00q6 874 5 was be VBD cord-014712-5u4e00q6 874 6 negative negative JJ cord-014712-5u4e00q6 874 7 . . . cord-014712-5u4e00q6 875 1 AntiHbs AntiHbs NNP cord-014712-5u4e00q6 875 2 , , , cord-014712-5u4e00q6 875 3 and and CC cord-014712-5u4e00q6 875 4 antiHAV antiHAV NNP cord-014712-5u4e00q6 875 5 were be VBD cord-014712-5u4e00q6 875 6 negative negative JJ cord-014712-5u4e00q6 875 7 despite despite IN cord-014712-5u4e00q6 875 8 vaccination vaccination NN cord-014712-5u4e00q6 875 9 . . . cord-014712-5u4e00q6 876 1 Uric uric JJ cord-014712-5u4e00q6 876 2 acid acid NN cord-014712-5u4e00q6 876 3 level level NN cord-014712-5u4e00q6 876 4 1,8 1,8 CD cord-014712-5u4e00q6 876 5 mg mg NNP cord-014712-5u4e00q6 876 6 / / SYM cord-014712-5u4e00q6 876 7 dl dl NNP cord-014712-5u4e00q6 876 8 . . . cord-014712-5u4e00q6 877 1 Direct Direct NNP cord-014712-5u4e00q6 877 2 Coombs Coombs NNP cord-014712-5u4e00q6 877 3 was be VBD cord-014712-5u4e00q6 877 4 negative negative JJ cord-014712-5u4e00q6 877 5 , , , cord-014712-5u4e00q6 877 6 thyroid thyroid JJ cord-014712-5u4e00q6 877 7 autoantibodies autoantibody NNS cord-014712-5u4e00q6 877 8 were be VBD cord-014712-5u4e00q6 877 9 within within IN cord-014712-5u4e00q6 877 10 normal normal JJ cord-014712-5u4e00q6 877 11 limits limit NNS cord-014712-5u4e00q6 877 12 . . . cord-014712-5u4e00q6 878 1 Genetic genetic JJ cord-014712-5u4e00q6 878 2 analysis analysis NN cord-014712-5u4e00q6 878 3 revealed reveal VBD cord-014712-5u4e00q6 878 4 homozygous homozygous JJ cord-014712-5u4e00q6 878 5 missense missense NN cord-014712-5u4e00q6 878 6 mutation mutation NN cord-014712-5u4e00q6 878 7 ( ( -LRB- cord-014712-5u4e00q6 878 8 c.349 c.349 JJ cord-014712-5u4e00q6 878 9 G g NN cord-014712-5u4e00q6 878 10 > > XX cord-014712-5u4e00q6 878 11 A a NN cord-014712-5u4e00q6 878 12 ) ) -RRB- cord-014712-5u4e00q6 878 13 , , , cord-014712-5u4e00q6 878 14 which which WDT cord-014712-5u4e00q6 878 15 causes cause VBZ cord-014712-5u4e00q6 878 16 the the DT cord-014712-5u4e00q6 878 17 A117 A117 NNP cord-014712-5u4e00q6 878 18 T T NNP cord-014712-5u4e00q6 878 19 amino amino NN cord-014712-5u4e00q6 878 20 acid acid NN cord-014712-5u4e00q6 878 21 substitution substitution NN cord-014712-5u4e00q6 878 22 in in IN cord-014712-5u4e00q6 878 23 PNP PNP NNP cord-014712-5u4e00q6 878 24 gene gene NN cord-014712-5u4e00q6 878 25 , , , cord-014712-5u4e00q6 878 26 in in IN cord-014712-5u4e00q6 878 27 exon exon NN cord-014712-5u4e00q6 878 28 4 4 CD cord-014712-5u4e00q6 878 29 , , , cord-014712-5u4e00q6 878 30 which which WDT cord-014712-5u4e00q6 878 31 has have VBZ cord-014712-5u4e00q6 878 32 previously previously RB cord-014712-5u4e00q6 878 33 been be VBN cord-014712-5u4e00q6 878 34 reported report VBN cord-014712-5u4e00q6 878 35 . . . cord-014712-5u4e00q6 879 1 Additionally additionally RB cord-014712-5u4e00q6 879 2 , , , cord-014712-5u4e00q6 879 3 a a DT cord-014712-5u4e00q6 879 4 homozygous homozygous JJ cord-014712-5u4e00q6 879 5 G G NNP cord-014712-5u4e00q6 879 6 / / SYM cord-014712-5u4e00q6 879 7 A a DT cord-014712-5u4e00q6 879 8 polymorphic polymorphic JJ cord-014712-5u4e00q6 879 9 site site NN cord-014712-5u4e00q6 879 10 in in IN cord-014712-5u4e00q6 879 11 IVS3 IVS3 NNP cord-014712-5u4e00q6 879 12 has have VBZ cord-014712-5u4e00q6 879 13 been be VBN cord-014712-5u4e00q6 879 14 detected detect VBN cord-014712-5u4e00q6 879 15 ( ( -LRB- cord-014712-5u4e00q6 879 16 c.285 c.285 JJ cord-014712-5u4e00q6 879 17 + + SYM cord-014712-5u4e00q6 879 18 10 10 CD cord-014712-5u4e00q6 879 19 G g NN cord-014712-5u4e00q6 879 20 ( ( -LRB- cord-014712-5u4e00q6 879 21 IVS3 IVS3 NNP cord-014712-5u4e00q6 879 22 + + SYM cord-014712-5u4e00q6 879 23 10 10 CD cord-014712-5u4e00q6 879 24 G g NN cord-014712-5u4e00q6 879 25 ) ) -RRB- cord-014712-5u4e00q6 879 26 ) ) -RRB- cord-014712-5u4e00q6 879 27 . . . cord-014712-5u4e00q6 880 1 Discussion discussion NN cord-014712-5u4e00q6 880 2 : : : cord-014712-5u4e00q6 881 1 PNP PNP NNP cord-014712-5u4e00q6 881 2 deficiency deficiency NN cord-014712-5u4e00q6 881 3 is be VBZ cord-014712-5u4e00q6 881 4 caused cause VBN cord-014712-5u4e00q6 881 5 by by IN cord-014712-5u4e00q6 881 6 mutations mutation NNS cord-014712-5u4e00q6 881 7 in in IN cord-014712-5u4e00q6 881 8 the the DT cord-014712-5u4e00q6 881 9 PNP PNP NNP cord-014712-5u4e00q6 881 10 gene gene NN cord-014712-5u4e00q6 881 11 at at IN cord-014712-5u4e00q6 881 12 14q13.1 14q13.1 CD cord-014712-5u4e00q6 881 13 . . . cord-014712-5u4e00q6 882 1 This this DT cord-014712-5u4e00q6 882 2 gene gene NN cord-014712-5u4e00q6 882 3 encodes encode VBZ cord-014712-5u4e00q6 882 4 the the DT cord-014712-5u4e00q6 882 5 protein protein NN cord-014712-5u4e00q6 882 6 purine purine NN cord-014712-5u4e00q6 882 7 nucleoside nucleoside NN cord-014712-5u4e00q6 882 8 phosphorylase phosphorylase NN cord-014712-5u4e00q6 882 9 , , , cord-014712-5u4e00q6 882 10 one one CD cord-014712-5u4e00q6 882 11 of of IN cord-014712-5u4e00q6 882 12 the the DT cord-014712-5u4e00q6 882 13 enzymes enzyme NNS cord-014712-5u4e00q6 882 14 involved involve VBN cord-014712-5u4e00q6 882 15 in in IN cord-014712-5u4e00q6 882 16 the the DT cord-014712-5u4e00q6 882 17 purine purine NNP cord-014712-5u4e00q6 882 18 salvage salvage NN cord-014712-5u4e00q6 882 19 pathway pathway NN cord-014712-5u4e00q6 882 20 . . . cord-014712-5u4e00q6 883 1 Adenosine adenosine NN cord-014712-5u4e00q6 883 2 deaminase deaminase NN cord-014712-5u4e00q6 883 3 ( ( -LRB- cord-014712-5u4e00q6 883 4 ADA ADA NNP cord-014712-5u4e00q6 883 5 ) ) -RRB- cord-014712-5u4e00q6 883 6 deaminates deaminate VBZ cord-014712-5u4e00q6 883 7 adenosine adenosine NN cord-014712-5u4e00q6 883 8 to to TO cord-014712-5u4e00q6 883 9 yield yield VB cord-014712-5u4e00q6 883 10 inosine inosine NNP cord-014712-5u4e00q6 883 11 , , , cord-014712-5u4e00q6 883 12 which which WDT cord-014712-5u4e00q6 883 13 is be VBZ cord-014712-5u4e00q6 883 14 then then RB cord-014712-5u4e00q6 883 15 converted convert VBN cord-014712-5u4e00q6 883 16 to to IN cord-014712-5u4e00q6 883 17 hypoxanthine hypoxanthine NNP cord-014712-5u4e00q6 883 18 by by IN cord-014712-5u4e00q6 883 19 PNP PNP NNP cord-014712-5u4e00q6 883 20 . . . cord-014712-5u4e00q6 884 1 PNP PNP NNP cord-014712-5u4e00q6 884 2 also also RB cord-014712-5u4e00q6 884 3 converts convert VBZ cord-014712-5u4e00q6 884 4 guanosine guanosine NN cord-014712-5u4e00q6 884 5 to to IN cord-014712-5u4e00q6 884 6 guanine guanine NN cord-014712-5u4e00q6 884 7 . . . cord-014712-5u4e00q6 885 1 A a DT cord-014712-5u4e00q6 885 2 number number NN cord-014712-5u4e00q6 885 3 of of IN cord-014712-5u4e00q6 885 4 metabolites metabolite NNS cord-014712-5u4e00q6 885 5 are be VBP cord-014712-5u4e00q6 885 6 elevated elevate VBN cord-014712-5u4e00q6 885 7 in in IN cord-014712-5u4e00q6 885 8 the the DT cord-014712-5u4e00q6 885 9 plasma plasma NN cord-014712-5u4e00q6 885 10 and and CC cord-014712-5u4e00q6 885 11 urine urine NN cord-014712-5u4e00q6 885 12 in in IN cord-014712-5u4e00q6 885 13 PNP PNP NNP cord-014712-5u4e00q6 885 14 deficiency deficiency NN cord-014712-5u4e00q6 885 15 , , , cord-014712-5u4e00q6 885 16 including include VBG cord-014712-5u4e00q6 885 17 deoxyguanosine deoxyguanosine NNP cord-014712-5u4e00q6 885 18 and and CC cord-014712-5u4e00q6 885 19 deoxyinosine deoxyinosine NNP cord-014712-5u4e00q6 885 20 . . . cord-014712-5u4e00q6 886 1 There there EX cord-014712-5u4e00q6 886 2 is be VBZ cord-014712-5u4e00q6 886 3 an an DT cord-014712-5u4e00q6 886 4 intracellular intracellular JJ cord-014712-5u4e00q6 886 5 accumulation accumulation NN cord-014712-5u4e00q6 886 6 of of IN cord-014712-5u4e00q6 886 7 their -PRON- PRP$ cord-014712-5u4e00q6 886 8 deoxy deoxy NN cord-014712-5u4e00q6 886 9 triphosphate triphosphate NN cord-014712-5u4e00q6 886 10 compounds compound NNS cord-014712-5u4e00q6 886 11 , , , cord-014712-5u4e00q6 886 12 particularly particularly RB cord-014712-5u4e00q6 886 13 deoxyguanosine deoxyguanosine NNP cord-014712-5u4e00q6 886 14 triphosphate triphosphate NNP cord-014712-5u4e00q6 886 15 ( ( -LRB- cord-014712-5u4e00q6 886 16 dGTP dGTP NNP cord-014712-5u4e00q6 886 17 ) ) -RRB- cord-014712-5u4e00q6 886 18 . . . cord-014712-5u4e00q6 887 1 The the DT cord-014712-5u4e00q6 887 2 latter latter JJ cord-014712-5u4e00q6 887 3 is be VBZ cord-014712-5u4e00q6 887 4 toxic toxic JJ cord-014712-5u4e00q6 887 5 to to IN cord-014712-5u4e00q6 887 6 T t NN cord-014712-5u4e00q6 887 7 cells cell NNS cord-014712-5u4e00q6 887 8 , , , cord-014712-5u4e00q6 887 9 a a DT cord-014712-5u4e00q6 887 10 property property NN cord-014712-5u4e00q6 887 11 similar similar JJ cord-014712-5u4e00q6 887 12 to to IN cord-014712-5u4e00q6 887 13 deoxyadenosine deoxyadenosine VB cord-014712-5u4e00q6 887 14 triphosphate triphosphate NN cord-014712-5u4e00q6 887 15 in in IN cord-014712-5u4e00q6 887 16 adenosine adenosine NN cord-014712-5u4e00q6 887 17 deaminase deaminase NNP cord-014712-5u4e00q6 887 18 deficiency deficiency NN cord-014712-5u4e00q6 887 19 . . . cord-014712-5u4e00q6 888 1 In in IN cord-014712-5u4e00q6 888 2 this this DT cord-014712-5u4e00q6 888 3 report report NN cord-014712-5u4e00q6 888 4 , , , cord-014712-5u4e00q6 888 5 we -PRON- PRP cord-014712-5u4e00q6 888 6 demonstrate demonstrate VBP cord-014712-5u4e00q6 888 7 the the DT cord-014712-5u4e00q6 888 8 clinical clinical JJ cord-014712-5u4e00q6 888 9 characteristic characteristic NN cord-014712-5u4e00q6 888 10 of of IN cord-014712-5u4e00q6 888 11 the the DT cord-014712-5u4e00q6 888 12 patient patient NN cord-014712-5u4e00q6 888 13 with with IN cord-014712-5u4e00q6 888 14 late late JJ cord-014712-5u4e00q6 888 15 diagnosis diagnosis NN cord-014712-5u4e00q6 888 16 of of IN cord-014712-5u4e00q6 888 17 PNP PNP NNP cord-014712-5u4e00q6 888 18 deficiency deficiency NN cord-014712-5u4e00q6 888 19 . . . cord-014712-5u4e00q6 889 1 PNP PNP NNP cord-014712-5u4e00q6 889 2 mutations mutation NNS cord-014712-5u4e00q6 889 3 likely likely RB cord-014712-5u4e00q6 889 4 lead lead VBP cord-014712-5u4e00q6 889 5 to to IN cord-014712-5u4e00q6 889 6 an an DT cord-014712-5u4e00q6 889 7 intense intense JJ cord-014712-5u4e00q6 889 8 alteration alteration NN cord-014712-5u4e00q6 889 9 of of IN cord-014712-5u4e00q6 889 10 the the DT cord-014712-5u4e00q6 889 11 enzyme enzyme NN cord-014712-5u4e00q6 889 12 activity activity NN cord-014712-5u4e00q6 889 13 which which WDT cord-014712-5u4e00q6 889 14 in in IN cord-014712-5u4e00q6 889 15 turn turn NN cord-014712-5u4e00q6 889 16 , , , cord-014712-5u4e00q6 889 17 cause cause VB cord-014712-5u4e00q6 889 18 severe severe JJ cord-014712-5u4e00q6 889 19 and and CC cord-014712-5u4e00q6 889 20 early early JJ cord-014712-5u4e00q6 889 21 onset onset NN cord-014712-5u4e00q6 889 22 of of IN cord-014712-5u4e00q6 889 23 the the DT cord-014712-5u4e00q6 889 24 clinical clinical JJ cord-014712-5u4e00q6 889 25 findings finding NNS cord-014712-5u4e00q6 889 26 . . . cord-014712-5u4e00q6 890 1 However however RB cord-014712-5u4e00q6 890 2 , , , cord-014712-5u4e00q6 890 3 in in IN cord-014712-5u4e00q6 890 4 our -PRON- PRP$ cord-014712-5u4e00q6 890 5 case case NN cord-014712-5u4e00q6 890 6 , , , cord-014712-5u4e00q6 890 7 the the DT cord-014712-5u4e00q6 890 8 clinical clinical JJ cord-014712-5u4e00q6 890 9 onset onset NN cord-014712-5u4e00q6 890 10 of of IN cord-014712-5u4e00q6 890 11 the the DT cord-014712-5u4e00q6 890 12 disease disease NN cord-014712-5u4e00q6 890 13 is be VBZ cord-014712-5u4e00q6 890 14 quite quite RB cord-014712-5u4e00q6 890 15 late late JJ cord-014712-5u4e00q6 890 16 ( ( -LRB- cord-014712-5u4e00q6 890 17 after after IN cord-014712-5u4e00q6 890 18 6 6 CD cord-014712-5u4e00q6 890 19 years year NNS cord-014712-5u4e00q6 890 20 ) ) -RRB- cord-014712-5u4e00q6 890 21 which which WDT cord-014712-5u4e00q6 890 22 can can MD cord-014712-5u4e00q6 890 23 be be VB cord-014712-5u4e00q6 890 24 explained explain VBN cord-014712-5u4e00q6 890 25 by by IN cord-014712-5u4e00q6 890 26 the the DT cord-014712-5u4e00q6 890 27 residual residual JJ cord-014712-5u4e00q6 890 28 activity activity NN cord-014712-5u4e00q6 890 29 of of IN cord-014712-5u4e00q6 890 30 the the DT cord-014712-5u4e00q6 890 31 PNP PNP NNP cord-014712-5u4e00q6 890 32 . . . cord-014712-5u4e00q6 891 1 In in IN cord-014712-5u4e00q6 891 2 conclusion conclusion NN cord-014712-5u4e00q6 891 3 patients patient NNS cord-014712-5u4e00q6 891 4 with with IN cord-014712-5u4e00q6 891 5 PNP PNP NNP cord-014712-5u4e00q6 891 6 deficiency deficiency NN cord-014712-5u4e00q6 891 7 can can MD cord-014712-5u4e00q6 891 8 be be VB cord-014712-5u4e00q6 891 9 late late JJ cord-014712-5u4e00q6 891 10 onset onset NN cord-014712-5u4e00q6 891 11 . . . cord-014712-5u4e00q6 892 1 Additionally additionally RB cord-014712-5u4e00q6 892 2 , , , cord-014712-5u4e00q6 892 3 late late JJ cord-014712-5u4e00q6 892 4 diagnosis diagnosis NN cord-014712-5u4e00q6 892 5 of of IN cord-014712-5u4e00q6 892 6 this this DT cord-014712-5u4e00q6 892 7 patient patient NN cord-014712-5u4e00q6 892 8 can can MD cord-014712-5u4e00q6 892 9 cause cause VB cord-014712-5u4e00q6 892 10 severe severe JJ cord-014712-5u4e00q6 892 11 comorbidity comorbidity NN cord-014712-5u4e00q6 892 12 which which WDT cord-014712-5u4e00q6 892 13 limits limit VBZ cord-014712-5u4e00q6 892 14 the the DT cord-014712-5u4e00q6 892 15 chance chance NN cord-014712-5u4e00q6 892 16 of of IN cord-014712-5u4e00q6 892 17 bone bone NN cord-014712-5u4e00q6 892 18 marrow marrow NN cord-014712-5u4e00q6 892 19 transplantation transplantation NN cord-014712-5u4e00q6 892 20 . . . cord-014712-5u4e00q6 893 1 Di Di NNP cord-014712-5u4e00q6 893 2 George George NNP cord-014712-5u4e00q6 893 3 syndrome syndrome NN cord-014712-5u4e00q6 893 4 , , , cord-014712-5u4e00q6 893 5 a a DT cord-014712-5u4e00q6 893 6 disorder disorder NN cord-014712-5u4e00q6 893 7 caused cause VBN cord-014712-5u4e00q6 893 8 by by IN cord-014712-5u4e00q6 893 9 a a DT cord-014712-5u4e00q6 893 10 defect defect NN cord-014712-5u4e00q6 893 11 in in IN cord-014712-5u4e00q6 893 12 chromosome chromosome NN cord-014712-5u4e00q6 893 13 22 22 CD cord-014712-5u4e00q6 893 14 ( ( -LRB- cord-014712-5u4e00q6 893 15 22q11.2 22q11.2 CD cord-014712-5u4e00q6 893 16 deletion deletion NN cord-014712-5u4e00q6 893 17 ) ) -RRB- cord-014712-5u4e00q6 893 18 , , , cord-014712-5u4e00q6 893 19 results result NNS cord-014712-5u4e00q6 893 20 in in IN cord-014712-5u4e00q6 893 21 the the DT cord-014712-5u4e00q6 893 22 poor poor JJ cord-014712-5u4e00q6 893 23 development development NN cord-014712-5u4e00q6 893 24 of of IN cord-014712-5u4e00q6 893 25 several several JJ cord-014712-5u4e00q6 893 26 body body NN cord-014712-5u4e00q6 893 27 systems system NNS cord-014712-5u4e00q6 893 28 . . . cord-014712-5u4e00q6 894 1 Clinical clinical JJ cord-014712-5u4e00q6 894 2 features feature NNS cord-014712-5u4e00q6 894 3 include include VBP cord-014712-5u4e00q6 894 4 congenital congenital JJ cord-014712-5u4e00q6 894 5 heart heart NN cord-014712-5u4e00q6 894 6 defects defect NNS cord-014712-5u4e00q6 894 7 , , , cord-014712-5u4e00q6 894 8 hypoparathyroidism hypoparathyroidism NN cord-014712-5u4e00q6 894 9 and and CC cord-014712-5u4e00q6 894 10 thymic thymic JJ cord-014712-5u4e00q6 894 11 hypoplasia hypoplasia NN cord-014712-5u4e00q6 894 12 or or CC cord-014712-5u4e00q6 894 13 aplasia aplasia NNP cord-014712-5u4e00q6 894 14 leading lead VBG cord-014712-5u4e00q6 894 15 to to IN cord-014712-5u4e00q6 894 16 T t NN cord-014712-5u4e00q6 894 17 - - HYPH cord-014712-5u4e00q6 894 18 cell cell NN cord-014712-5u4e00q6 894 19 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 894 20 . . . cord-014712-5u4e00q6 895 1 The the DT cord-014712-5u4e00q6 895 2 aim aim NN cord-014712-5u4e00q6 895 3 of of IN cord-014712-5u4e00q6 895 4 our -PRON- PRP$ cord-014712-5u4e00q6 895 5 study study NN cord-014712-5u4e00q6 895 6 is be VBZ cord-014712-5u4e00q6 895 7 to to TO cord-014712-5u4e00q6 895 8 screen screen VB cord-014712-5u4e00q6 895 9 and and CC cord-014712-5u4e00q6 895 10 determine determine VB cord-014712-5u4e00q6 895 11 the the DT cord-014712-5u4e00q6 895 12 incidence incidence NN cord-014712-5u4e00q6 895 13 of of IN cord-014712-5u4e00q6 895 14 Di Di NNP cord-014712-5u4e00q6 895 15 George George NNP cord-014712-5u4e00q6 895 16 syndrome syndrome NN cord-014712-5u4e00q6 895 17 within within IN cord-014712-5u4e00q6 895 18 only only RB cord-014712-5u4e00q6 895 19 one one CD cord-014712-5u4e00q6 895 20 tube tube NN cord-014712-5u4e00q6 895 21 of of IN cord-014712-5u4e00q6 895 22 blood blood NN cord-014712-5u4e00q6 895 23 in in IN cord-014712-5u4e00q6 895 24 children child NNS cord-014712-5u4e00q6 895 25 with with IN cord-014712-5u4e00q6 895 26 congenital congenital JJ cord-014712-5u4e00q6 895 27 heart heart NN cord-014712-5u4e00q6 895 28 anomalies anomaly NNS cord-014712-5u4e00q6 895 29 in in IN cord-014712-5u4e00q6 895 30 our -PRON- PRP$ cord-014712-5u4e00q6 895 31 population population NN cord-014712-5u4e00q6 895 32 . . . cord-014712-5u4e00q6 896 1 Children child NNS cord-014712-5u4e00q6 896 2 who who WP cord-014712-5u4e00q6 896 3 were be VBD cord-014712-5u4e00q6 896 4 found find VBN cord-014712-5u4e00q6 896 5 to to TO cord-014712-5u4e00q6 896 6 have have VB cord-014712-5u4e00q6 896 7 a a DT cord-014712-5u4e00q6 896 8 cardiac cardiac JJ cord-014712-5u4e00q6 896 9 defect defect NN cord-014712-5u4e00q6 896 10 during during IN cord-014712-5u4e00q6 896 11 routine routine JJ cord-014712-5u4e00q6 896 12 visits visit NNS cord-014712-5u4e00q6 896 13 in in IN cord-014712-5u4e00q6 896 14 pediatric pediatric JJ cord-014712-5u4e00q6 896 15 cardiology cardiology NN cord-014712-5u4e00q6 896 16 and and CC cord-014712-5u4e00q6 896 17 neonatalogy neonatalogy NNP cord-014712-5u4e00q6 896 18 departments department NNS cord-014712-5u4e00q6 896 19 were be VBD cord-014712-5u4e00q6 896 20 included include VBN cord-014712-5u4e00q6 896 21 into into IN cord-014712-5u4e00q6 896 22 the the DT cord-014712-5u4e00q6 896 23 study study NN cord-014712-5u4e00q6 896 24 . . . cord-014712-5u4e00q6 897 1 Cases case NNS cord-014712-5u4e00q6 897 2 with with IN cord-014712-5u4e00q6 897 3 known know VBN cord-014712-5u4e00q6 897 4 genetic genetic JJ cord-014712-5u4e00q6 897 5 syndromes syndrome NNS cord-014712-5u4e00q6 897 6 and and CC cord-014712-5u4e00q6 897 7 newborns newborn NNS cord-014712-5u4e00q6 897 8 younger young JJR cord-014712-5u4e00q6 897 9 than than IN cord-014712-5u4e00q6 897 10 32 32 CD cord-014712-5u4e00q6 897 11 gestational gestational JJ cord-014712-5u4e00q6 897 12 weeks week NNS cord-014712-5u4e00q6 897 13 of of IN cord-014712-5u4e00q6 897 14 age age NN cord-014712-5u4e00q6 897 15 and and CC cord-014712-5u4e00q6 897 16 small small JJ cord-014712-5u4e00q6 897 17 for for IN cord-014712-5u4e00q6 897 18 gestational gestational JJ cord-014712-5u4e00q6 897 19 age age NN cord-014712-5u4e00q6 897 20 ( ( -LRB- cord-014712-5u4e00q6 897 21 birth birth NN cord-014712-5u4e00q6 897 22 weight weight NN cord-014712-5u4e00q6 897 23 < < XX cord-014712-5u4e00q6 897 24 2500 2500 CD cord-014712-5u4e00q6 897 25 gr gr NNS cord-014712-5u4e00q6 897 26 ) ) -RRB- cord-014712-5u4e00q6 897 27 were be VBD cord-014712-5u4e00q6 897 28 excluded exclude VBN cord-014712-5u4e00q6 897 29 . . . cord-014712-5u4e00q6 898 1 A a DT cord-014712-5u4e00q6 898 2 total total NN cord-014712-5u4e00q6 898 3 of of IN cord-014712-5u4e00q6 898 4 136 136 CD cord-014712-5u4e00q6 898 5 patients patient NNS cord-014712-5u4e00q6 898 6 were be VBD cord-014712-5u4e00q6 898 7 included include VBN cord-014712-5u4e00q6 898 8 . . . cord-014712-5u4e00q6 899 1 There there EX cord-014712-5u4e00q6 899 2 were be VBD cord-014712-5u4e00q6 899 3 79 79 CD cord-014712-5u4e00q6 899 4 ( ( -LRB- cord-014712-5u4e00q6 899 5 58 58 CD cord-014712-5u4e00q6 899 6 % % NN cord-014712-5u4e00q6 899 7 ) ) -RRB- cord-014712-5u4e00q6 899 8 males male NNS cord-014712-5u4e00q6 899 9 and and CC cord-014712-5u4e00q6 899 10 57 57 CD cord-014712-5u4e00q6 899 11 ( ( -LRB- cord-014712-5u4e00q6 899 12 42 42 CD cord-014712-5u4e00q6 899 13 % % NN cord-014712-5u4e00q6 899 14 ) ) -RRB- cord-014712-5u4e00q6 899 15 females female NNS cord-014712-5u4e00q6 899 16 . . . cord-014712-5u4e00q6 900 1 Age age NN cord-014712-5u4e00q6 900 2 ranged range VBD cord-014712-5u4e00q6 900 3 between between IN cord-014712-5u4e00q6 900 4 0 0 CD cord-014712-5u4e00q6 900 5 - - SYM cord-014712-5u4e00q6 900 6 80 80 CD cord-014712-5u4e00q6 900 7 months month NNS cord-014712-5u4e00q6 900 8 ( ( -LRB- cord-014712-5u4e00q6 900 9 10.2 10.2 CD cord-014712-5u4e00q6 900 10 ± ± CD cord-014712-5u4e00q6 900 11 15.9 15.9 CD cord-014712-5u4e00q6 900 12 months month NNS cord-014712-5u4e00q6 900 13 ) ) -RRB- cord-014712-5u4e00q6 900 14 . . . cord-014712-5u4e00q6 901 1 Parental parental JJ cord-014712-5u4e00q6 901 2 consanguinity consanguinity NN cord-014712-5u4e00q6 901 3 was be VBD cord-014712-5u4e00q6 901 4 17 17 CD cord-014712-5u4e00q6 901 5 % % NN cord-014712-5u4e00q6 901 6 ( ( -LRB- cord-014712-5u4e00q6 901 7 n n NN cord-014712-5u4e00q6 901 8 = = SYM cord-014712-5u4e00q6 901 9 23 23 CD cord-014712-5u4e00q6 901 10 ) ) -RRB- cord-014712-5u4e00q6 901 11 in in IN cord-014712-5u4e00q6 901 12 the the DT cord-014712-5u4e00q6 901 13 study study NN cord-014712-5u4e00q6 901 14 group group NN cord-014712-5u4e00q6 901 15 . . . cord-014712-5u4e00q6 902 1 The the DT cord-014712-5u4e00q6 902 2 majority majority NN cord-014712-5u4e00q6 902 3 of of IN cord-014712-5u4e00q6 902 4 patients patient NNS cord-014712-5u4e00q6 902 5 diagnosed diagnose VBN cord-014712-5u4e00q6 902 6 after after IN cord-014712-5u4e00q6 902 7 murmur murmur NN cord-014712-5u4e00q6 902 8 was be VBD cord-014712-5u4e00q6 902 9 heard hear VBN cord-014712-5u4e00q6 902 10 during during IN cord-014712-5u4e00q6 902 11 the the DT cord-014712-5u4e00q6 902 12 routine routine JJ cord-014712-5u4e00q6 902 13 physical physical JJ cord-014712-5u4e00q6 902 14 examination examination NN cord-014712-5u4e00q6 902 15 ( ( -LRB- cord-014712-5u4e00q6 902 16 n n NN cord-014712-5u4e00q6 902 17 = = SYM cord-014712-5u4e00q6 902 18 62 62 CD cord-014712-5u4e00q6 902 19 , , , cord-014712-5u4e00q6 902 20 46 46 CD cord-014712-5u4e00q6 902 21 % % NN cord-014712-5u4e00q6 902 22 ) ) -RRB- cord-014712-5u4e00q6 902 23 . . . cord-014712-5u4e00q6 903 1 Five five CD cord-014712-5u4e00q6 903 2 patients patient NNS cord-014712-5u4e00q6 903 3 ( ( -LRB- cord-014712-5u4e00q6 903 4 3 3 CD cord-014712-5u4e00q6 903 5 % % NN cord-014712-5u4e00q6 903 6 ) ) -RRB- cord-014712-5u4e00q6 903 7 diagnosed diagnose VBN cord-014712-5u4e00q6 903 8 antenatally antenatally RB cord-014712-5u4e00q6 903 9 . . . cord-014712-5u4e00q6 904 1 Remaining remain VBG cord-014712-5u4e00q6 904 2 clinical clinical JJ cord-014712-5u4e00q6 904 3 signs sign NNS cord-014712-5u4e00q6 904 4 on on IN cord-014712-5u4e00q6 904 5 admission admission NN cord-014712-5u4e00q6 904 6 were be VBD cord-014712-5u4e00q6 904 7 as as IN cord-014712-5u4e00q6 904 8 follows follow VBZ cord-014712-5u4e00q6 904 9 ; ; : cord-014712-5u4e00q6 904 10 respiratory respiratory JJ cord-014712-5u4e00q6 904 11 distress distress NN cord-014712-5u4e00q6 904 12 ( ( -LRB- cord-014712-5u4e00q6 904 13 n n NN cord-014712-5u4e00q6 904 14 = = SYM cord-014712-5u4e00q6 904 15 33 33 CD cord-014712-5u4e00q6 904 16 , , , cord-014712-5u4e00q6 904 17 24 24 CD cord-014712-5u4e00q6 904 18 % % NN cord-014712-5u4e00q6 904 19 ) ) -RRB- cord-014712-5u4e00q6 904 20 , , , cord-014712-5u4e00q6 904 21 tachycardia tachycardia FW cord-014712-5u4e00q6 904 22 ( ( -LRB- cord-014712-5u4e00q6 904 23 n n NN cord-014712-5u4e00q6 904 24 = = SYM cord-014712-5u4e00q6 904 25 20 20 CD cord-014712-5u4e00q6 904 26 , , , cord-014712-5u4e00q6 904 27 15 15 CD cord-014712-5u4e00q6 904 28 % % NN cord-014712-5u4e00q6 904 29 ) ) -RRB- cord-014712-5u4e00q6 904 30 and and CC cord-014712-5u4e00q6 904 31 central central JJ cord-014712-5u4e00q6 904 32 cyanosis cyanosis NN cord-014712-5u4e00q6 904 33 ( ( -LRB- cord-014712-5u4e00q6 904 34 n n NN cord-014712-5u4e00q6 904 35 = = SYM cord-014712-5u4e00q6 904 36 16 16 CD cord-014712-5u4e00q6 904 37 , , , cord-014712-5u4e00q6 904 38 12 12 CD cord-014712-5u4e00q6 904 39 % % NN cord-014712-5u4e00q6 904 40 ) ) -RRB- cord-014712-5u4e00q6 904 41 . . . cord-014712-5u4e00q6 905 1 Echocardiagorafic Echocardiagorafic NNP cord-014712-5u4e00q6 905 2 examinations examination NNS cord-014712-5u4e00q6 905 3 revealed reveal VBD cord-014712-5u4e00q6 905 4 ventricular ventricular JJ cord-014712-5u4e00q6 905 5 septal septal JJ cord-014712-5u4e00q6 905 6 defect defect NN cord-014712-5u4e00q6 905 7 ( ( -LRB- cord-014712-5u4e00q6 905 8 VSD VSD NNP cord-014712-5u4e00q6 905 9 ) ) -RRB- cord-014712-5u4e00q6 905 10 ( ( -LRB- cord-014712-5u4e00q6 905 11 n n NN cord-014712-5u4e00q6 905 12 = = SYM cord-014712-5u4e00q6 905 13 27 27 CD cord-014712-5u4e00q6 905 14 ) ) -RRB- cord-014712-5u4e00q6 905 15 , , , cord-014712-5u4e00q6 905 16 tetralogy tetralogy NN cord-014712-5u4e00q6 905 17 of of IN cord-014712-5u4e00q6 905 18 fallot fallot NN cord-014712-5u4e00q6 905 19 ( ( -LRB- cord-014712-5u4e00q6 905 20 TOF TOF NNP cord-014712-5u4e00q6 905 21 ) ) -RRB- cord-014712-5u4e00q6 905 22 ( ( -LRB- cord-014712-5u4e00q6 905 23 n n NN cord-014712-5u4e00q6 905 24 = = SYM cord-014712-5u4e00q6 905 25 17 17 CD cord-014712-5u4e00q6 905 26 ) ) -RRB- cord-014712-5u4e00q6 905 27 , , , cord-014712-5u4e00q6 905 28 VSD VSD NNP cord-014712-5u4e00q6 905 29 - - HYPH cord-014712-5u4e00q6 905 30 ASD ASD NNP cord-014712-5u4e00q6 905 31 ( ( -LRB- cord-014712-5u4e00q6 905 32 n n NN cord-014712-5u4e00q6 905 33 = = SYM cord-014712-5u4e00q6 905 34 13 13 CD cord-014712-5u4e00q6 905 35 ) ) -RRB- cord-014712-5u4e00q6 905 36 , , , cord-014712-5u4e00q6 905 37 aortic aortic JJ cord-014712-5u4e00q6 905 38 coarctation coarctation NN cord-014712-5u4e00q6 905 39 ( ( -LRB- cord-014712-5u4e00q6 905 40 n n NN cord-014712-5u4e00q6 905 41 = = SYM cord-014712-5u4e00q6 905 42 11 11 CD cord-014712-5u4e00q6 905 43 ) ) -RRB- cord-014712-5u4e00q6 905 44 , , , cord-014712-5u4e00q6 905 45 double double JJ cord-014712-5u4e00q6 905 46 outlet outlet NN cord-014712-5u4e00q6 905 47 right right JJ cord-014712-5u4e00q6 905 48 venticle venticle NN cord-014712-5u4e00q6 905 49 ( ( -LRB- cord-014712-5u4e00q6 905 50 DORV DORV NNP cord-014712-5u4e00q6 905 51 ) ) -RRB- cord-014712-5u4e00q6 905 52 ( ( -LRB- cord-014712-5u4e00q6 905 53 n n NN cord-014712-5u4e00q6 905 54 = = SYM cord-014712-5u4e00q6 905 55 10 10 CD cord-014712-5u4e00q6 905 56 ) ) -RRB- cord-014712-5u4e00q6 905 57 , , , cord-014712-5u4e00q6 905 58 transposition transposition NN cord-014712-5u4e00q6 905 59 of of IN cord-014712-5u4e00q6 905 60 the the DT cord-014712-5u4e00q6 905 61 great great JJ cord-014712-5u4e00q6 905 62 arteries artery NNS cord-014712-5u4e00q6 905 63 ( ( -LRB- cord-014712-5u4e00q6 905 64 n n NN cord-014712-5u4e00q6 905 65 = = SYM cord-014712-5u4e00q6 905 66 6 6 CD cord-014712-5u4e00q6 905 67 ) ) -RRB- cord-014712-5u4e00q6 905 68 , , , cord-014712-5u4e00q6 905 69 truncus truncus NNP cord-014712-5u4e00q6 905 70 arteriosus arteriosus NNP cord-014712-5u4e00q6 905 71 ( ( -LRB- cord-014712-5u4e00q6 905 72 n n NN cord-014712-5u4e00q6 905 73 = = SYM cord-014712-5u4e00q6 905 74 5 5 CD cord-014712-5u4e00q6 905 75 ) ) -RRB- cord-014712-5u4e00q6 905 76 and and CC cord-014712-5u4e00q6 905 77 pulmonary pulmonary JJ cord-014712-5u4e00q6 905 78 atresia atresia NN cord-014712-5u4e00q6 905 79 ( ( -LRB- cord-014712-5u4e00q6 905 80 n n NN cord-014712-5u4e00q6 905 81 = = SYM cord-014712-5u4e00q6 905 82 6 6 CD cord-014712-5u4e00q6 905 83 ) ) -RRB- cord-014712-5u4e00q6 905 84 . . . cord-014712-5u4e00q6 906 1 Pulmonary pulmonary JJ cord-014712-5u4e00q6 906 2 stenosis stenosis NN cord-014712-5u4e00q6 906 3 , , , cord-014712-5u4e00q6 906 4 endocardial endocardial JJ cord-014712-5u4e00q6 906 5 cushion cushion NN cord-014712-5u4e00q6 906 6 defects defect NNS cord-014712-5u4e00q6 906 7 , , , cord-014712-5u4e00q6 906 8 total total JJ cord-014712-5u4e00q6 906 9 pulmonary pulmonary JJ cord-014712-5u4e00q6 906 10 venous venous JJ cord-014712-5u4e00q6 906 11 return return NN cord-014712-5u4e00q6 906 12 anomaly anomaly NN cord-014712-5u4e00q6 906 13 and and CC cord-014712-5u4e00q6 906 14 hypoplastic hypoplastic JJ cord-014712-5u4e00q6 906 15 left left JJ cord-014712-5u4e00q6 906 16 heart heart NN cord-014712-5u4e00q6 906 17 were be VBD cord-014712-5u4e00q6 906 18 the the DT cord-014712-5u4e00q6 906 19 other other JJ cord-014712-5u4e00q6 906 20 defects defect NNS cord-014712-5u4e00q6 906 21 . . . cord-014712-5u4e00q6 907 1 22q11.2 22q11.2 CD cord-014712-5u4e00q6 907 2 deletion deletion NN cord-014712-5u4e00q6 907 3 was be VBD cord-014712-5u4e00q6 907 4 ascertained ascertain VBN cord-014712-5u4e00q6 907 5 in in IN cord-014712-5u4e00q6 907 6 7 7 CD cord-014712-5u4e00q6 907 7 ( ( -LRB- cord-014712-5u4e00q6 907 8 5.1 5.1 CD cord-014712-5u4e00q6 907 9 % % NN cord-014712-5u4e00q6 907 10 ) ) -RRB- cord-014712-5u4e00q6 907 11 patients patient NNS cord-014712-5u4e00q6 907 12 ; ; : cord-014712-5u4e00q6 907 13 these these DT cord-014712-5u4e00q6 907 14 patients patient NNS cord-014712-5u4e00q6 907 15 were be VBD cord-014712-5u4e00q6 907 16 diagnosed diagnose VBN cord-014712-5u4e00q6 907 17 to to TO cord-014712-5u4e00q6 907 18 have have VB cord-014712-5u4e00q6 907 19 TOF TOF NNP cord-014712-5u4e00q6 907 20 ( ( -LRB- cord-014712-5u4e00q6 907 21 28.6 28.6 CD cord-014712-5u4e00q6 907 22 % % NN cord-014712-5u4e00q6 907 23 ) ) -RRB- cord-014712-5u4e00q6 907 24 , , , cord-014712-5u4e00q6 907 25 truncus truncus NNP cord-014712-5u4e00q6 907 26 arteriosus arteriosus NNP cord-014712-5u4e00q6 907 27 ( ( -LRB- cord-014712-5u4e00q6 907 28 14.6 14.6 CD cord-014712-5u4e00q6 907 29 % % NN cord-014712-5u4e00q6 907 30 ) ) -RRB- cord-014712-5u4e00q6 907 31 , , , cord-014712-5u4e00q6 907 32 DORV DORV NNP cord-014712-5u4e00q6 907 33 ( ( -LRB- cord-014712-5u4e00q6 907 34 14.3 14.3 CD cord-014712-5u4e00q6 907 35 % % NN cord-014712-5u4e00q6 907 36 ) ) -RRB- cord-014712-5u4e00q6 907 37 , , , cord-014712-5u4e00q6 907 38 VSD VSD NNP cord-014712-5u4e00q6 907 39 ( ( -LRB- cord-014712-5u4e00q6 907 40 14.3 14.3 CD cord-014712-5u4e00q6 907 41 % % NN cord-014712-5u4e00q6 907 42 ) ) -RRB- cord-014712-5u4e00q6 907 43 and and CC cord-014712-5u4e00q6 907 44 VSD VSD NNP cord-014712-5u4e00q6 907 45 - - HYPH cord-014712-5u4e00q6 907 46 ASD ASD NNP cord-014712-5u4e00q6 907 47 ( ( -LRB- cord-014712-5u4e00q6 907 48 14.3 14.3 CD cord-014712-5u4e00q6 907 49 % % NN cord-014712-5u4e00q6 907 50 ) ) -RRB- cord-014712-5u4e00q6 907 51 . . . cord-014712-5u4e00q6 908 1 Preliminary preliminary JJ cord-014712-5u4e00q6 908 2 results result NNS cord-014712-5u4e00q6 908 3 of of IN cord-014712-5u4e00q6 908 4 the the DT cord-014712-5u4e00q6 908 5 study study NN cord-014712-5u4e00q6 908 6 showed show VBD cord-014712-5u4e00q6 908 7 that that IN cord-014712-5u4e00q6 908 8 the the DT cord-014712-5u4e00q6 908 9 frequency frequency NN cord-014712-5u4e00q6 908 10 of of IN cord-014712-5u4e00q6 908 11 22q11.2 22q11.2 CD cord-014712-5u4e00q6 908 12 deletion deletion NN cord-014712-5u4e00q6 908 13 is be VBZ cord-014712-5u4e00q6 908 14 5 5 CD cord-014712-5u4e00q6 908 15 % % NN cord-014712-5u4e00q6 908 16 in in IN cord-014712-5u4e00q6 908 17 patients patient NNS cord-014712-5u4e00q6 908 18 with with IN cord-014712-5u4e00q6 908 19 known know VBN cord-014712-5u4e00q6 908 20 cardiac cardiac JJ cord-014712-5u4e00q6 908 21 defects defect NNS cord-014712-5u4e00q6 908 22 . . . cord-014712-5u4e00q6 909 1 Single single JJ cord-014712-5u4e00q6 909 2 tube tube NN cord-014712-5u4e00q6 909 3 of of IN cord-014712-5u4e00q6 909 4 blood blood NN cord-014712-5u4e00q6 909 5 is be VBZ cord-014712-5u4e00q6 909 6 enough enough JJ cord-014712-5u4e00q6 909 7 for for IN cord-014712-5u4e00q6 909 8 flow flow NN cord-014712-5u4e00q6 909 9 cytometric cytometric JJ cord-014712-5u4e00q6 909 10 and and CC cord-014712-5u4e00q6 909 11 genetic genetic JJ cord-014712-5u4e00q6 909 12 analyses analysis NNS cord-014712-5u4e00q6 909 13 . . . cord-014712-5u4e00q6 910 1 Further further JJ cord-014712-5u4e00q6 910 2 studies study NNS cord-014712-5u4e00q6 910 3 involving involve VBG cord-014712-5u4e00q6 910 4 higher high JJR cord-014712-5u4e00q6 910 5 number number NN cord-014712-5u4e00q6 910 6 of of IN cord-014712-5u4e00q6 910 7 patients patient NNS cord-014712-5u4e00q6 910 8 is be VBZ cord-014712-5u4e00q6 910 9 mandatory mandatory JJ cord-014712-5u4e00q6 910 10 to to TO cord-014712-5u4e00q6 910 11 give give VB cord-014712-5u4e00q6 910 12 sufficient sufficient JJ cord-014712-5u4e00q6 910 13 information information NN cord-014712-5u4e00q6 910 14 about about IN cord-014712-5u4e00q6 910 15 the the DT cord-014712-5u4e00q6 910 16 exact exact JJ cord-014712-5u4e00q6 910 17 incidence incidence NN cord-014712-5u4e00q6 910 18 of of IN cord-014712-5u4e00q6 910 19 the the DT cord-014712-5u4e00q6 910 20 disease disease NN cord-014712-5u4e00q6 910 21 . . . cord-014712-5u4e00q6 911 1 DI DI NNP cord-014712-5u4e00q6 911 2 GEORGE GEORGE NNP cord-014712-5u4e00q6 911 3 SYNDROME SYNDROME NNP cord-014712-5u4e00q6 912 1 -WHERE -WHERE . cord-014712-5u4e00q6 913 1 DO do VBP cord-014712-5u4e00q6 913 2 WE we PRP cord-014712-5u4e00q6 913 3 STAND stand VB cord-014712-5u4e00q6 913 4 NOW now RB cord-014712-5u4e00q6 913 5 ? ? . cord-014712-5u4e00q6 914 1 Małgorzata Małgorzata NNP cord-014712-5u4e00q6 914 2 Pac Pac NNP cord-014712-5u4e00q6 914 3 ; ; : cord-014712-5u4e00q6 914 4 Małgorzata Małgorzata NNP cord-014712-5u4e00q6 914 5 Skomska Skomska NNP cord-014712-5u4e00q6 914 6 ; ; : cord-014712-5u4e00q6 914 7 Ewa Ewa NNP cord-014712-5u4e00q6 914 8 Bernatowska Bernatowska NNP cord-014712-5u4e00q6 914 9 Department Department NNP cord-014712-5u4e00q6 914 10 of of IN cord-014712-5u4e00q6 914 11 Immunology Immunology NNP cord-014712-5u4e00q6 914 12 , , , cord-014712-5u4e00q6 914 13 The the DT cord-014712-5u4e00q6 914 14 Children Children NNPS cord-014712-5u4e00q6 914 15 's 's POS cord-014712-5u4e00q6 914 16 Memorial Memorial NNP cord-014712-5u4e00q6 914 17 Health Health NNP cord-014712-5u4e00q6 914 18 Institute Institute NNP cord-014712-5u4e00q6 914 19 , , , cord-014712-5u4e00q6 914 20 Warsaw Warsaw NNP cord-014712-5u4e00q6 914 21 , , , cord-014712-5u4e00q6 914 22 Poland Poland NNP cord-014712-5u4e00q6 914 23 Di Di NNP cord-014712-5u4e00q6 914 24 George George NNP cord-014712-5u4e00q6 914 25 syndrome syndrome NN cord-014712-5u4e00q6 914 26 ( ( -LRB- cord-014712-5u4e00q6 914 27 DGS DGS NNP cord-014712-5u4e00q6 914 28 ) ) -RRB- cord-014712-5u4e00q6 915 1 classically classically RB cord-014712-5u4e00q6 915 2 comprises comprise VBZ cord-014712-5u4e00q6 915 3 T t NN cord-014712-5u4e00q6 915 4 - - HYPH cord-014712-5u4e00q6 915 5 cell cell NN cord-014712-5u4e00q6 915 6 deficiency deficiency NN cord-014712-5u4e00q6 915 7 ( ( -LRB- cord-014712-5u4e00q6 915 8 due due IN cord-014712-5u4e00q6 915 9 to to IN cord-014712-5u4e00q6 915 10 thymic thymic JJ cord-014712-5u4e00q6 915 11 hypoplasia hypoplasia NN cord-014712-5u4e00q6 915 12 ) ) -RRB- cord-014712-5u4e00q6 915 13 , , , cord-014712-5u4e00q6 915 14 hypoparathyroidism hypoparathyroidism NNP cord-014712-5u4e00q6 915 15 , , , cord-014712-5u4e00q6 915 16 cardiac cardiac JJ cord-014712-5u4e00q6 915 17 malformations malformation NNS cord-014712-5u4e00q6 915 18 , , , cord-014712-5u4e00q6 915 19 and and CC cord-014712-5u4e00q6 915 20 facial facial JJ cord-014712-5u4e00q6 915 21 abnormalities abnormality NNS cord-014712-5u4e00q6 915 22 . . . cord-014712-5u4e00q6 916 1 Deletions deletion NNS cord-014712-5u4e00q6 916 2 of of IN cord-014712-5u4e00q6 916 3 the the DT cord-014712-5u4e00q6 916 4 long long JJ cord-014712-5u4e00q6 916 5 arm arm NN cord-014712-5u4e00q6 916 6 of of IN cord-014712-5u4e00q6 916 7 chromosome chromosome NN cord-014712-5u4e00q6 916 8 22 22 CD cord-014712-5u4e00q6 916 9 at at IN cord-014712-5u4e00q6 916 10 position position NN cord-014712-5u4e00q6 916 11 q.11 q.11 NNP cord-014712-5u4e00q6 916 12 are be VBP cord-014712-5u4e00q6 916 13 most most RBS cord-014712-5u4e00q6 916 14 commonly commonly RB cord-014712-5u4e00q6 916 15 associated associate VBN cord-014712-5u4e00q6 916 16 with with IN cord-014712-5u4e00q6 916 17 DGS DGS NNP cord-014712-5u4e00q6 916 18 . . . cord-014712-5u4e00q6 917 1 Syndrome syndrome NN cord-014712-5u4e00q6 917 2 is be VBZ cord-014712-5u4e00q6 917 3 also also RB cord-014712-5u4e00q6 917 4 found find VBN cord-014712-5u4e00q6 917 5 associated associate VBN cord-014712-5u4e00q6 917 6 with with IN cord-014712-5u4e00q6 917 7 other other JJ cord-014712-5u4e00q6 917 8 genetic genetic JJ cord-014712-5u4e00q6 917 9 abnormalities abnormality NNS cord-014712-5u4e00q6 917 10 ( ( -LRB- cord-014712-5u4e00q6 917 11 10p 10p CD cord-014712-5u4e00q6 917 12 deletions deletion NNS cord-014712-5u4e00q6 917 13 , , , cord-014712-5u4e00q6 917 14 CHAR CHAR NNP cord-014712-5u4e00q6 917 15 GE GE NNP cord-014712-5u4e00q6 917 16 ) ) -RRB- cord-014712-5u4e00q6 917 17 , , , cord-014712-5u4e00q6 917 18 certain certain JJ cord-014712-5u4e00q6 917 19 teratogenic teratogenic JJ cord-014712-5u4e00q6 917 20 influences influence NNS cord-014712-5u4e00q6 917 21 ( ( -LRB- cord-014712-5u4e00q6 917 22 retinoid retinoid NN cord-014712-5u4e00q6 917 23 acid acid NN cord-014712-5u4e00q6 917 24 , , , cord-014712-5u4e00q6 917 25 foetal foetal JJ cord-014712-5u4e00q6 917 26 alcoholic alcoholic JJ cord-014712-5u4e00q6 917 27 syndrome syndrome NN cord-014712-5u4e00q6 917 28 , , , cord-014712-5u4e00q6 917 29 maternal maternal JJ cord-014712-5u4e00q6 917 30 diabetes diabetes NN cord-014712-5u4e00q6 917 31 ) ) -RRB- cord-014712-5u4e00q6 917 32 . . . cord-014712-5u4e00q6 918 1 The the DT cord-014712-5u4e00q6 918 2 DGS DGS NNP cord-014712-5u4e00q6 918 3 phenotype phenotype NN cord-014712-5u4e00q6 918 4 is be VBZ cord-014712-5u4e00q6 918 5 very very RB cord-014712-5u4e00q6 918 6 heterogenous heterogenous JJ cord-014712-5u4e00q6 918 7 with with IN cord-014712-5u4e00q6 918 8 variable variable JJ cord-014712-5u4e00q6 918 9 expression expression NN cord-014712-5u4e00q6 918 10 of of IN cord-014712-5u4e00q6 918 11 the the DT cord-014712-5u4e00q6 918 12 different different JJ cord-014712-5u4e00q6 918 13 features feature NNS cord-014712-5u4e00q6 918 14 including include VBG cord-014712-5u4e00q6 918 15 the the DT cord-014712-5u4e00q6 918 16 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 918 17 . . . cord-014712-5u4e00q6 919 1 The the DT cord-014712-5u4e00q6 919 2 initial initial JJ cord-014712-5u4e00q6 919 3 treatment treatment NN cord-014712-5u4e00q6 919 4 emphasis emphasis NN cord-014712-5u4e00q6 919 5 is be VBZ cord-014712-5u4e00q6 919 6 to to TO cord-014712-5u4e00q6 919 7 control control VB cord-014712-5u4e00q6 919 8 the the DT cord-014712-5u4e00q6 919 9 hypoparathyroidism hypoparathyroidism NN cord-014712-5u4e00q6 919 10 . . . cord-014712-5u4e00q6 920 1 Correction correction NN cord-014712-5u4e00q6 920 2 of of IN cord-014712-5u4e00q6 920 3 congenital congenital JJ cord-014712-5u4e00q6 920 4 heart heart NN cord-014712-5u4e00q6 920 5 defects defect NNS cord-014712-5u4e00q6 920 6 ( ( -LRB- cord-014712-5u4e00q6 920 7 if if IN cord-014712-5u4e00q6 920 8 present present NN cord-014712-5u4e00q6 920 9 ) ) -RRB- cord-014712-5u4e00q6 920 10 is be VBZ cord-014712-5u4e00q6 920 11 usually usually RB cord-014712-5u4e00q6 920 12 needed need VBN cord-014712-5u4e00q6 920 13 . . . cord-014712-5u4e00q6 921 1 The the DT cord-014712-5u4e00q6 921 2 best good JJS cord-014712-5u4e00q6 921 3 treatment treatment NN cord-014712-5u4e00q6 921 4 of of IN cord-014712-5u4e00q6 921 5 the the DT cord-014712-5u4e00q6 921 6 immune immune JJ cord-014712-5u4e00q6 921 7 defects defect NNS cord-014712-5u4e00q6 921 8 of of IN cord-014712-5u4e00q6 921 9 DGS DGS NNP cord-014712-5u4e00q6 921 10 is be VBZ cord-014712-5u4e00q6 921 11 still still RB cord-014712-5u4e00q6 921 12 controversial controversial JJ cord-014712-5u4e00q6 921 13 . . . cord-014712-5u4e00q6 922 1 Both both DT cord-014712-5u4e00q6 922 2 HSCT HSCT NNP cord-014712-5u4e00q6 922 3 and and CC cord-014712-5u4e00q6 922 4 transplant transplant NN cord-014712-5u4e00q6 922 5 with with IN cord-014712-5u4e00q6 922 6 fetal fetal JJ cord-014712-5u4e00q6 922 7 thymus thymus NN cord-014712-5u4e00q6 922 8 are be VBP cord-014712-5u4e00q6 922 9 the the DT cord-014712-5u4e00q6 922 10 option option NN cord-014712-5u4e00q6 922 11 for for IN cord-014712-5u4e00q6 922 12 complete complete JJ cord-014712-5u4e00q6 922 13 DGS DGS NNP cord-014712-5u4e00q6 922 14 ( ( -LRB- cord-014712-5u4e00q6 922 15 cDGS cDGS NNP cord-014712-5u4e00q6 922 16 ) ) -RRB- cord-014712-5u4e00q6 922 17 . . . cord-014712-5u4e00q6 923 1 Long long JJ cord-014712-5u4e00q6 923 2 term term NN cord-014712-5u4e00q6 923 3 survival survival NN cord-014712-5u4e00q6 923 4 after after IN cord-014712-5u4e00q6 923 5 HSCT HSCT NNP cord-014712-5u4e00q6 923 6 has have VBZ cord-014712-5u4e00q6 923 7 been be VBN cord-014712-5u4e00q6 923 8 reported report VBN cord-014712-5u4e00q6 923 9 , , , cord-014712-5u4e00q6 923 10 though though IN cord-014712-5u4e00q6 923 11 at at IN cord-014712-5u4e00q6 923 12 a a DT cord-014712-5u4e00q6 923 13 lower low JJR cord-014712-5u4e00q6 923 14 rate rate NN cord-014712-5u4e00q6 923 15 ( ( -LRB- cord-014712-5u4e00q6 923 16 41 41 CD cord-014712-5u4e00q6 923 17 - - SYM cord-014712-5u4e00q6 923 18 48 48 CD cord-014712-5u4e00q6 923 19 % % NN cord-014712-5u4e00q6 923 20 ) ) -RRB- cord-014712-5u4e00q6 923 21 compared compare VBN cord-014712-5u4e00q6 923 22 to to IN cord-014712-5u4e00q6 923 23 survival survival NN cord-014712-5u4e00q6 923 24 after after IN cord-014712-5u4e00q6 923 25 HSCT HSCT NNP cord-014712-5u4e00q6 923 26 for for IN cord-014712-5u4e00q6 923 27 SCID SCID NNP cord-014712-5u4e00q6 923 28 . . . cord-014712-5u4e00q6 924 1 Survival survival NN cord-014712-5u4e00q6 924 2 in in IN cord-014712-5u4e00q6 924 3 the the DT cord-014712-5u4e00q6 924 4 subgroup subgroup NN cord-014712-5u4e00q6 924 5 receiving receive VBG cord-014712-5u4e00q6 924 6 matched match VBN cord-014712-5u4e00q6 924 7 sibling sibling NN cord-014712-5u4e00q6 924 8 donor donor NN cord-014712-5u4e00q6 924 9 transplants transplant NNS cord-014712-5u4e00q6 924 10 was be VBD cord-014712-5u4e00q6 924 11 better well JJR cord-014712-5u4e00q6 924 12 at at IN cord-014712-5u4e00q6 924 13 over over IN cord-014712-5u4e00q6 924 14 60 60 CD cord-014712-5u4e00q6 924 15 % % NN cord-014712-5u4e00q6 924 16 . . . cord-014712-5u4e00q6 925 1 The the DT cord-014712-5u4e00q6 925 2 use use NN cord-014712-5u4e00q6 925 3 of of IN cord-014712-5u4e00q6 925 4 post post JJ cord-014712-5u4e00q6 925 5 natal natal JJ cord-014712-5u4e00q6 925 6 human human JJ cord-014712-5u4e00q6 925 7 thymus thymus NN cord-014712-5u4e00q6 925 8 was be VBD cord-014712-5u4e00q6 925 9 pioneered pioneer VBN cord-014712-5u4e00q6 925 10 by by IN cord-014712-5u4e00q6 925 11 Markert Markert NNP cord-014712-5u4e00q6 925 12 at at IN cord-014712-5u4e00q6 925 13 Duke Duke NNP cord-014712-5u4e00q6 925 14 University University NNP cord-014712-5u4e00q6 925 15 and and CC cord-014712-5u4e00q6 925 16 has have VBZ cord-014712-5u4e00q6 925 17 become become VBN cord-014712-5u4e00q6 925 18 established establish VBN cord-014712-5u4e00q6 925 19 as as IN cord-014712-5u4e00q6 925 20 the the DT cord-014712-5u4e00q6 925 21 treatment treatment NN cord-014712-5u4e00q6 925 22 of of IN cord-014712-5u4e00q6 925 23 choice choice NN cord-014712-5u4e00q6 925 24 for for IN cord-014712-5u4e00q6 925 25 cDGS cdg NNS cord-014712-5u4e00q6 925 26 , , , cord-014712-5u4e00q6 925 27 with with IN cord-014712-5u4e00q6 925 28 the the DT cord-014712-5u4e00q6 925 29 result result NN cord-014712-5u4e00q6 925 30 of of IN cord-014712-5u4e00q6 925 31 43 43 CD cord-014712-5u4e00q6 925 32 out out IN cord-014712-5u4e00q6 925 33 of of IN cord-014712-5u4e00q6 925 34 60 60 CD cord-014712-5u4e00q6 925 35 treated treat VBN cord-014712-5u4e00q6 925 36 patients patient NNS cord-014712-5u4e00q6 925 37 survived survive VBD cord-014712-5u4e00q6 925 38 ( ( -LRB- cord-014712-5u4e00q6 925 39 72 72 CD cord-014712-5u4e00q6 925 40 % % NN cord-014712-5u4e00q6 925 41 ) ) -RRB- cord-014712-5u4e00q6 925 42 . . . cord-014712-5u4e00q6 926 1 More more RBR cord-014712-5u4e00q6 926 2 recently recently RB cord-014712-5u4e00q6 926 3 this this DT cord-014712-5u4e00q6 926 4 approach approach NN cord-014712-5u4e00q6 926 5 has have VBZ cord-014712-5u4e00q6 926 6 also also RB cord-014712-5u4e00q6 926 7 been be VBN cord-014712-5u4e00q6 926 8 used use VBN cord-014712-5u4e00q6 926 9 in in IN cord-014712-5u4e00q6 926 10 London London NNP cord-014712-5u4e00q6 926 11 , , , cord-014712-5u4e00q6 926 12 at at IN cord-014712-5u4e00q6 926 13 GOSH GOSH NNP cord-014712-5u4e00q6 926 14 . . . cord-014712-5u4e00q6 926 15 . . . cord-014712-5u4e00q6 927 1 Under under IN cord-014712-5u4e00q6 927 2 care care NN cord-014712-5u4e00q6 927 3 of of IN cord-014712-5u4e00q6 927 4 CMHI CMHI NNP cord-014712-5u4e00q6 927 5 there there RB cord-014712-5u4e00q6 927 6 are119 are119 NNP cord-014712-5u4e00q6 928 1 patients patient NNS cord-014712-5u4e00q6 928 2 fulfilling fulfil VBG cord-014712-5u4e00q6 928 3 ESID ESID NNP cord-014712-5u4e00q6 928 4 criteria criterion NNS cord-014712-5u4e00q6 928 5 , , , cord-014712-5u4e00q6 928 6 59 59 CD cord-014712-5u4e00q6 928 7 girls girl NNS cord-014712-5u4e00q6 928 8 ( ( -LRB- cord-014712-5u4e00q6 928 9 49.6 49.6 CD cord-014712-5u4e00q6 928 10 % % NN cord-014712-5u4e00q6 928 11 ) ) -RRB- cord-014712-5u4e00q6 928 12 and and CC cord-014712-5u4e00q6 928 13 60 60 CD cord-014712-5u4e00q6 928 14 boys boy NNS cord-014712-5u4e00q6 928 15 ( ( -LRB- cord-014712-5u4e00q6 928 16 50.4 50.4 CD cord-014712-5u4e00q6 928 17 % % NN cord-014712-5u4e00q6 928 18 ) ) -RRB- cord-014712-5u4e00q6 928 19 , , , cord-014712-5u4e00q6 928 20 age age NN cord-014712-5u4e00q6 928 21 2/12 2/12 CD cord-014712-5u4e00q6 928 22 -23 -23 CD cord-014712-5u4e00q6 929 1 y.o y.o NNP cord-014712-5u4e00q6 929 2 . . . cord-014712-5u4e00q6 930 1 In in IN cord-014712-5u4e00q6 930 2 70 70 CD cord-014712-5u4e00q6 930 3 % % NN cord-014712-5u4e00q6 930 4 of of IN cord-014712-5u4e00q6 930 5 them -PRON- PRP cord-014712-5u4e00q6 930 6 22q11 22q11 CD cord-014712-5u4e00q6 930 7 deletion deletion NN cord-014712-5u4e00q6 930 8 in in IN cord-014712-5u4e00q6 930 9 locus locus NN cord-014712-5u4e00q6 930 10 D22S75 D22S75 NNP cord-014712-5u4e00q6 930 11 was be VBD cord-014712-5u4e00q6 930 12 found find VBN cord-014712-5u4e00q6 930 13 . . . cord-014712-5u4e00q6 931 1 The the DT cord-014712-5u4e00q6 931 2 vast vast JJ cord-014712-5u4e00q6 931 3 majority majority NN cord-014712-5u4e00q6 931 4 children child NNS cord-014712-5u4e00q6 931 5 were be VBD cord-014712-5u4e00q6 931 6 diagnosed diagnose VBN cord-014712-5u4e00q6 931 7 as as IN cord-014712-5u4e00q6 931 8 partial partial JJ cord-014712-5u4e00q6 931 9 DGS DGS NNP cord-014712-5u4e00q6 931 10 . . . cord-014712-5u4e00q6 932 1 None none NN cord-014712-5u4e00q6 932 2 of of IN cord-014712-5u4e00q6 932 3 them -PRON- PRP cord-014712-5u4e00q6 932 4 had have VBD cord-014712-5u4e00q6 932 5 significant significant JJ cord-014712-5u4e00q6 932 6 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 932 7 and and CC cord-014712-5u4e00q6 933 1 no no DT cord-014712-5u4e00q6 933 2 regular regular JJ cord-014712-5u4e00q6 933 3 IVIG IVIG NNP cord-014712-5u4e00q6 933 4 therapy therapy NN cord-014712-5u4e00q6 933 5 or or CC cord-014712-5u4e00q6 933 6 antibiotic antibiotic JJ cord-014712-5u4e00q6 933 7 prophylaxis prophylaxis NN cord-014712-5u4e00q6 933 8 were be VBD cord-014712-5u4e00q6 933 9 required require VBN cord-014712-5u4e00q6 933 10 .. .. . cord-014712-5u4e00q6 934 1 The the DT cord-014712-5u4e00q6 934 2 mean mean JJ cord-014712-5u4e00q6 934 3 number number NN cord-014712-5u4e00q6 934 4 and and CC cord-014712-5u4e00q6 934 5 percentage percentage NN cord-014712-5u4e00q6 934 6 of of IN cord-014712-5u4e00q6 934 7 CD3 CD3 NNP cord-014712-5u4e00q6 934 8 , , , cord-014712-5u4e00q6 934 9 CD8 CD8 NNP cord-014712-5u4e00q6 934 10 and and CC cord-014712-5u4e00q6 934 11 CD4 CD4 NNP cord-014712-5u4e00q6 934 12 lymphocytes lymphocyte VBZ cord-014712-5u4e00q6 934 13 as as RB cord-014712-5u4e00q6 934 14 well well RB cord-014712-5u4e00q6 934 15 as as IN cord-014712-5u4e00q6 934 16 lymphoproliferative lymphoproliferative JJ cord-014712-5u4e00q6 934 17 answer answer NN cord-014712-5u4e00q6 934 18 to to IN cord-014712-5u4e00q6 934 19 PHA PHA NNP cord-014712-5u4e00q6 934 20 and and CC cord-014712-5u4e00q6 934 21 CD3 CD3 NNP cord-014712-5u4e00q6 934 22 in in IN cord-014712-5u4e00q6 934 23 DGS DGS NNP cord-014712-5u4e00q6 934 24 patients patient NNS cord-014712-5u4e00q6 934 25 were be VBD cord-014712-5u4e00q6 934 26 slightly slightly RB cord-014712-5u4e00q6 934 27 diminished diminish VBN cord-014712-5u4e00q6 934 28 . . . cord-014712-5u4e00q6 935 1 In in IN cord-014712-5u4e00q6 935 2 many many JJ cord-014712-5u4e00q6 935 3 improvement improvement NN cord-014712-5u4e00q6 935 4 of of IN cord-014712-5u4e00q6 935 5 cellular cellular JJ cord-014712-5u4e00q6 935 6 immunity immunity NN cord-014712-5u4e00q6 935 7 was be VBD cord-014712-5u4e00q6 935 8 observed observe VBN cord-014712-5u4e00q6 935 9 with with IN cord-014712-5u4e00q6 935 10 age age NN cord-014712-5u4e00q6 935 11 . . . cord-014712-5u4e00q6 936 1 About about RB cord-014712-5u4e00q6 936 2 86 86 CD cord-014712-5u4e00q6 936 3 % % NN cord-014712-5u4e00q6 936 4 presented present VBN cord-014712-5u4e00q6 936 5 with with IN cord-014712-5u4e00q6 936 6 congenital congenital JJ cord-014712-5u4e00q6 936 7 heart heart NN cord-014712-5u4e00q6 936 8 disease disease NN cord-014712-5u4e00q6 936 9 , , , cord-014712-5u4e00q6 936 10 requiring require VBG cord-014712-5u4e00q6 936 11 surgery surgery NN cord-014712-5u4e00q6 936 12 , , , cord-014712-5u4e00q6 936 13 while while IN cord-014712-5u4e00q6 936 14 almost almost RB cord-014712-5u4e00q6 936 15 50 50 CD cord-014712-5u4e00q6 936 16 % % NN cord-014712-5u4e00q6 936 17 had have VBD cord-014712-5u4e00q6 936 18 the the DT cord-014712-5u4e00q6 936 19 symptoms symptom NNS cord-014712-5u4e00q6 936 20 of of IN cord-014712-5u4e00q6 936 21 hypocalcemia hypocalcemia NN cord-014712-5u4e00q6 936 22 and and CC cord-014712-5u4e00q6 936 23 hypoparathyroidism hypoparathyroidism NN cord-014712-5u4e00q6 936 24 , , , cord-014712-5u4e00q6 936 25 next next JJ cord-014712-5u4e00q6 936 26 46 46 CD cord-014712-5u4e00q6 936 27 % % NN cord-014712-5u4e00q6 936 28 -speech -speech NN cord-014712-5u4e00q6 936 29 and and CC cord-014712-5u4e00q6 936 30 learning learn VBG cord-014712-5u4e00q6 936 31 difficulties difficulty NNS cord-014712-5u4e00q6 936 32 . . . cord-014712-5u4e00q6 937 1 One one CD cord-014712-5u4e00q6 937 2 child child NN cord-014712-5u4e00q6 937 3 was be VBD cord-014712-5u4e00q6 937 4 diagnosed diagnose VBN cord-014712-5u4e00q6 937 5 as as IN cord-014712-5u4e00q6 937 6 cDGS cdgs JJ cord-014712-5u4e00q6 937 7 . . . cord-014712-5u4e00q6 938 1 SCID SCID NNP cord-014712-5u4e00q6 938 2 is be VBZ cord-014712-5u4e00q6 938 3 a a DT cord-014712-5u4e00q6 938 4 rare rare JJ cord-014712-5u4e00q6 938 5 , , , cord-014712-5u4e00q6 938 6 inherited inherited JJ cord-014712-5u4e00q6 938 7 condition condition NN cord-014712-5u4e00q6 938 8 , , , cord-014712-5u4e00q6 938 9 is be VBZ cord-014712-5u4e00q6 938 10 caused cause VBN cord-014712-5u4e00q6 938 11 by by IN cord-014712-5u4e00q6 938 12 numerous numerous JJ cord-014712-5u4e00q6 938 13 molecular molecular JJ cord-014712-5u4e00q6 938 14 defects defect NNS cord-014712-5u4e00q6 938 15 that that WDT cord-014712-5u4e00q6 938 16 lead lead VBP cord-014712-5u4e00q6 938 17 to to IN cord-014712-5u4e00q6 938 18 severe severe JJ cord-014712-5u4e00q6 938 19 compromise compromise NN cord-014712-5u4e00q6 938 20 in in IN cord-014712-5u4e00q6 938 21 the the DT cord-014712-5u4e00q6 938 22 number number NN cord-014712-5u4e00q6 938 23 and and CC cord-014712-5u4e00q6 938 24 function function NN cord-014712-5u4e00q6 938 25 of of IN cord-014712-5u4e00q6 938 26 T t NN cord-014712-5u4e00q6 938 27 cells cell NNS cord-014712-5u4e00q6 938 28 , , , cord-014712-5u4e00q6 938 29 B b NN cord-014712-5u4e00q6 938 30 cells cell NNS cord-014712-5u4e00q6 938 31 , , , cord-014712-5u4e00q6 938 32 and and CC cord-014712-5u4e00q6 938 33 occasionally occasionally RB cord-014712-5u4e00q6 938 34 natural natural JJ cord-014712-5u4e00q6 938 35 killer killer NN cord-014712-5u4e00q6 938 36 cells cell NNS cord-014712-5u4e00q6 938 37 . . . cord-014712-5u4e00q6 939 1 Seventeen seventeen CD cord-014712-5u4e00q6 939 2 patents patent NNS cord-014712-5u4e00q6 939 3 with with IN cord-014712-5u4e00q6 939 4 SCID SCID NNP cord-014712-5u4e00q6 939 5 were be VBD cord-014712-5u4e00q6 939 6 registered register VBN cord-014712-5u4e00q6 939 7 during during IN cord-014712-5u4e00q6 939 8 the the DT cord-014712-5u4e00q6 939 9 period period NN cord-014712-5u4e00q6 939 10 from from IN cord-014712-5u4e00q6 939 11 1994 1994 CD cord-014712-5u4e00q6 939 12 till till IN cord-014712-5u4e00q6 939 13 2013 2013 CD cord-014712-5u4e00q6 939 14 in in IN cord-014712-5u4e00q6 939 15 the the DT cord-014712-5u4e00q6 939 16 Children Children NNPS cord-014712-5u4e00q6 939 17 's 's POS cord-014712-5u4e00q6 939 18 Clinical Clinical NNP cord-014712-5u4e00q6 939 19 University University NNP cord-014712-5u4e00q6 939 20 Hospital Hospital NNP cord-014712-5u4e00q6 939 21 . . . cord-014712-5u4e00q6 940 1 Medical medical JJ cord-014712-5u4e00q6 940 2 charts chart NNS cord-014712-5u4e00q6 940 3 of of IN cord-014712-5u4e00q6 940 4 these these DT cord-014712-5u4e00q6 940 5 patients patient NNS cord-014712-5u4e00q6 940 6 have have VBP cord-014712-5u4e00q6 940 7 been be VBN cord-014712-5u4e00q6 940 8 reviewed review VBN cord-014712-5u4e00q6 940 9 . . . cord-014712-5u4e00q6 941 1 There there EX cord-014712-5u4e00q6 941 2 were be VBD cord-014712-5u4e00q6 941 3 9 9 CD cord-014712-5u4e00q6 941 4 boys boy NNS cord-014712-5u4e00q6 941 5 and and CC cord-014712-5u4e00q6 941 6 8 8 CD cord-014712-5u4e00q6 941 7 girls girl NNS cord-014712-5u4e00q6 941 8 . . . cord-014712-5u4e00q6 942 1 Positive positive JJ cord-014712-5u4e00q6 942 2 family family NN cord-014712-5u4e00q6 942 3 history history NN cord-014712-5u4e00q6 942 4 was be VBD cord-014712-5u4e00q6 942 5 in in IN cord-014712-5u4e00q6 942 6 4 4 CD cord-014712-5u4e00q6 942 7 families family NNS cord-014712-5u4e00q6 942 8 . . . cord-014712-5u4e00q6 943 1 Mean mean JJ cord-014712-5u4e00q6 943 2 age age NN cord-014712-5u4e00q6 943 3 at at IN cord-014712-5u4e00q6 943 4 the the DT cord-014712-5u4e00q6 943 5 onset onset NN cord-014712-5u4e00q6 943 6 of of IN cord-014712-5u4e00q6 943 7 symptoms symptom NNS cord-014712-5u4e00q6 943 8 and and CC cord-014712-5u4e00q6 943 9 SCID SCID NNP cord-014712-5u4e00q6 943 10 diagnosis diagnosis NN cord-014712-5u4e00q6 943 11 was be VBD cord-014712-5u4e00q6 943 12 1.7 1.7 CD cord-014712-5u4e00q6 943 13 ± ± CD cord-014712-5u4e00q6 943 14 1.23 1.23 CD cord-014712-5u4e00q6 943 15 and and CC cord-014712-5u4e00q6 943 16 4.03 4.03 CD cord-014712-5u4e00q6 943 17 ± ± CD cord-014712-5u4e00q6 943 18 1.6 1.6 CD cord-014712-5u4e00q6 943 19 months month NNS cord-014712-5u4e00q6 943 20 , , , cord-014712-5u4e00q6 943 21 respectively respectively RB cord-014712-5u4e00q6 943 22 . . . cord-014712-5u4e00q6 944 1 Pneumonia pneumonia NN cord-014712-5u4e00q6 944 2 ( ( -LRB- cord-014712-5u4e00q6 944 3 65 65 CD cord-014712-5u4e00q6 944 4 % % NN cord-014712-5u4e00q6 944 5 ) ) -RRB- cord-014712-5u4e00q6 944 6 , , , cord-014712-5u4e00q6 944 7 candidacies candidacy NNS cord-014712-5u4e00q6 944 8 ( ( -LRB- cord-014712-5u4e00q6 944 9 65 65 CD cord-014712-5u4e00q6 944 10 % % NN cord-014712-5u4e00q6 944 11 ) ) -RRB- cord-014712-5u4e00q6 944 12 , , , cord-014712-5u4e00q6 944 13 BCG BCG NNP cord-014712-5u4e00q6 944 14 infection infection NN cord-014712-5u4e00q6 944 15 ( ( -LRB- cord-014712-5u4e00q6 944 16 47 47 CD cord-014712-5u4e00q6 944 17 % % NN cord-014712-5u4e00q6 944 18 ) ) -RRB- cord-014712-5u4e00q6 944 19 , , , cord-014712-5u4e00q6 944 20 diarrhea diarrhea NN cord-014712-5u4e00q6 944 21 ( ( -LRB- cord-014712-5u4e00q6 944 22 35 35 CD cord-014712-5u4e00q6 944 23 % % NN cord-014712-5u4e00q6 944 24 ) ) -RRB- cord-014712-5u4e00q6 944 25 were be VBD cord-014712-5u4e00q6 944 26 the the DT cord-014712-5u4e00q6 944 27 most most RBS cord-014712-5u4e00q6 944 28 important important JJ cord-014712-5u4e00q6 944 29 infections infection NNS cord-014712-5u4e00q6 944 30 . . . cord-014712-5u4e00q6 945 1 Anemia anemia NN cord-014712-5u4e00q6 945 2 and and CC cord-014712-5u4e00q6 945 3 relative relative JJ cord-014712-5u4e00q6 945 4 lymphopenia lymphopenia NNP cord-014712-5u4e00q6 945 5 were be VBD cord-014712-5u4e00q6 945 6 in in IN cord-014712-5u4e00q6 945 7 76 76 CD cord-014712-5u4e00q6 945 8 % % NN cord-014712-5u4e00q6 945 9 cases case NNS cord-014712-5u4e00q6 945 10 , , , cord-014712-5u4e00q6 945 11 growth growth NN cord-014712-5u4e00q6 945 12 retardation retardation NN cord-014712-5u4e00q6 945 13 , , , cord-014712-5u4e00q6 945 14 hypotrophy hypotrophy NNP cord-014712-5u4e00q6 945 15 had have VBD cord-014712-5u4e00q6 945 16 59 59 CD cord-014712-5u4e00q6 945 17 % % NN cord-014712-5u4e00q6 945 18 children child NNS cord-014712-5u4e00q6 945 19 . . . cord-014712-5u4e00q6 946 1 Pathogens pathogen NNS cord-014712-5u4e00q6 946 2 such such JJ cord-014712-5u4e00q6 946 3 as as IN cord-014712-5u4e00q6 946 4 Candida Candida NNP cord-014712-5u4e00q6 946 5 albicans albican NNS cord-014712-5u4e00q6 946 6 ( ( -LRB- cord-014712-5u4e00q6 946 7 11 11 CD cord-014712-5u4e00q6 946 8 ) ) -RRB- cord-014712-5u4e00q6 946 9 , , , cord-014712-5u4e00q6 946 10 Mycobacterium Mycobacterium NNP cord-014712-5u4e00q6 946 11 tuberculosis tuberculosis NN cord-014712-5u4e00q6 946 12 complex complex JJ cord-014712-5u4e00q6 946 13 ( ( -LRB- cord-014712-5u4e00q6 946 14 8) 8) NN cord-014712-5u4e00q6 946 15 , , , cord-014712-5u4e00q6 946 16 CMV CMV NNP cord-014712-5u4e00q6 946 17 ( ( -LRB- cord-014712-5u4e00q6 946 18 3 3 CD cord-014712-5u4e00q6 946 19 ) ) -RRB- cord-014712-5u4e00q6 946 20 and and CC cord-014712-5u4e00q6 946 21 others other NNS cord-014712-5u4e00q6 946 22 have have VBP cord-014712-5u4e00q6 946 23 been be VBN cord-014712-5u4e00q6 946 24 identified identify VBN cord-014712-5u4e00q6 946 25 . . . cord-014712-5u4e00q6 947 1 Totally totally RB cord-014712-5u4e00q6 947 2 15 15 CD cord-014712-5u4e00q6 947 3 patients patient NNS cord-014712-5u4e00q6 947 4 died die VBD cord-014712-5u4e00q6 947 5 . . . cord-014712-5u4e00q6 948 1 Two two CD cord-014712-5u4e00q6 948 2 girls girl NNS cord-014712-5u4e00q6 948 3 are be VBP cord-014712-5u4e00q6 948 4 alive alive JJ cord-014712-5u4e00q6 948 5 ( ( -LRB- cord-014712-5u4e00q6 948 6 29 29 CD cord-014712-5u4e00q6 948 7 and and CC cord-014712-5u4e00q6 948 8 17 17 CD cord-014712-5u4e00q6 948 9 months month NNS cord-014712-5u4e00q6 948 10 post post JJ cord-014712-5u4e00q6 948 11 - - JJ cord-014712-5u4e00q6 948 12 transplant transplant NN cord-014712-5u4e00q6 948 13 ) ) -RRB- cord-014712-5u4e00q6 948 14 . . . cord-014712-5u4e00q6 949 1 Autopsy Autopsy NNP cord-014712-5u4e00q6 949 2 was be VBD cord-014712-5u4e00q6 949 3 done do VBN cord-014712-5u4e00q6 949 4 in in IN cord-014712-5u4e00q6 949 5 8 8 CD cord-014712-5u4e00q6 949 6 patients patient NNS cord-014712-5u4e00q6 949 7 . . . cord-014712-5u4e00q6 950 1 We -PRON- PRP cord-014712-5u4e00q6 950 2 saw see VBD cord-014712-5u4e00q6 950 3 different different JJ cord-014712-5u4e00q6 950 4 changes change NNS cord-014712-5u4e00q6 950 5 in in IN cord-014712-5u4e00q6 950 6 thymus thymus NN cord-014712-5u4e00q6 950 7 and and CC cord-014712-5u4e00q6 950 8 lymphatic lymphatic JJ cord-014712-5u4e00q6 950 9 nodes node NNS cord-014712-5u4e00q6 950 10 . . . cord-014712-5u4e00q6 951 1 Artemis Artemis NNP cord-014712-5u4e00q6 951 2 deficiency deficiency NN cord-014712-5u4e00q6 951 3 ( ( -LRB- cord-014712-5u4e00q6 951 4 n n NN cord-014712-5u4e00q6 951 5 = = SYM cord-014712-5u4e00q6 951 6 1 1 CD cord-014712-5u4e00q6 951 7 ) ) -RRB- cord-014712-5u4e00q6 951 8 , , , cord-014712-5u4e00q6 951 9 T T NNP cord-014712-5u4e00q6 951 10 - - HYPH cord-014712-5u4e00q6 951 11 B B NNP cord-014712-5u4e00q6 951 12 - - HYPH cord-014712-5u4e00q6 951 13 SCID SCID NNP cord-014712-5u4e00q6 951 14 ( ( -LRB- cord-014712-5u4e00q6 951 15 n n NN cord-014712-5u4e00q6 951 16 = = SYM cord-014712-5u4e00q6 951 17 4 4 CD cord-014712-5u4e00q6 951 18 ) ) -RRB- cord-014712-5u4e00q6 951 19 , , , cord-014712-5u4e00q6 951 20 T T NNP cord-014712-5u4e00q6 951 21 - - HYPH cord-014712-5u4e00q6 951 22 B B NNP cord-014712-5u4e00q6 952 1 + + CC cord-014712-5u4e00q6 952 2 SCID SCID NNP cord-014712-5u4e00q6 952 3 ( ( -LRB- cord-014712-5u4e00q6 952 4 n n NN cord-014712-5u4e00q6 952 5 = = SYM cord-014712-5u4e00q6 952 6 5 5 CD cord-014712-5u4e00q6 952 7 ) ) -RRB- cord-014712-5u4e00q6 952 8 , , , cord-014712-5u4e00q6 952 9 γc γc NNP cord-014712-5u4e00q6 952 10 deficiency deficiency NN cord-014712-5u4e00q6 953 1 ( ( -LRB- cord-014712-5u4e00q6 953 2 n n NN cord-014712-5u4e00q6 953 3 = = SYM cord-014712-5u4e00q6 953 4 1 1 CD cord-014712-5u4e00q6 953 5 mutation mutation NN cord-014712-5u4e00q6 953 6 R224W r224w NN cord-014712-5u4e00q6 953 7 in in IN cord-014712-5u4e00q6 953 8 γ γ NN cord-014712-5u4e00q6 953 9 - - HYPH cord-014712-5u4e00q6 953 10 chain chain NN cord-014712-5u4e00q6 953 11 of of IN cord-014712-5u4e00q6 953 12 receptor receptor NN cord-014712-5u4e00q6 953 13 for for IN cord-014712-5u4e00q6 953 14 IL-2 IL-2 NNP cord-014712-5u4e00q6 953 15 ) ) -RRB- cord-014712-5u4e00q6 953 16 , , , cord-014712-5u4e00q6 953 17 unspecified unspecified JJ cord-014712-5u4e00q6 953 18 SCID SCID NNP cord-014712-5u4e00q6 953 19 ( ( -LRB- cord-014712-5u4e00q6 953 20 n n NN cord-014712-5u4e00q6 953 21 = = SYM cord-014712-5u4e00q6 953 22 6 6 CD cord-014712-5u4e00q6 953 23 ) ) -RRB- cord-014712-5u4e00q6 953 24 were be VBD cord-014712-5u4e00q6 953 25 detected detect VBN cord-014712-5u4e00q6 953 26 . . . cord-014712-5u4e00q6 954 1 Conclusion conclusion NN cord-014712-5u4e00q6 954 2 : : : cord-014712-5u4e00q6 955 1 Generalized generalized JJ cord-014712-5u4e00q6 955 2 BCG BCG NNP cord-014712-5u4e00q6 955 3 infection infection NN cord-014712-5u4e00q6 955 4 had have VBD cord-014712-5u4e00q6 955 5 47 47 CD cord-014712-5u4e00q6 955 6 % % NN cord-014712-5u4e00q6 955 7 of of IN cord-014712-5u4e00q6 955 8 our -PRON- PRP$ cord-014712-5u4e00q6 955 9 SCID SCID NNP cord-014712-5u4e00q6 955 10 patients patient NNS cord-014712-5u4e00q6 955 11 . . . cord-014712-5u4e00q6 956 1 ( ( -LRB- cord-014712-5u4e00q6 956 2 Incidence incidence NN cord-014712-5u4e00q6 956 3 of of IN cord-014712-5u4e00q6 956 4 TB TB NNP cord-014712-5u4e00q6 956 5 is be VBZ cord-014712-5u4e00q6 956 6 still still RB cord-014712-5u4e00q6 956 7 high high JJ cord-014712-5u4e00q6 956 8 36.2 36.2 CD cord-014712-5u4e00q6 956 9 / / SYM cord-014712-5u4e00q6 956 10 100 100 CD cord-014712-5u4e00q6 956 11 000 000 CD cord-014712-5u4e00q6 956 12 population population NN cord-014712-5u4e00q6 956 13 in in IN cord-014712-5u4e00q6 956 14 Latvia Latvia NNP cord-014712-5u4e00q6 956 15 and and CC cord-014712-5u4e00q6 956 16 newborns newborn NNS cord-014712-5u4e00q6 956 17 obligatory obligatory JJ cord-014712-5u4e00q6 956 18 are be VBP cord-014712-5u4e00q6 956 19 vaccinated vaccinate VBN cord-014712-5u4e00q6 956 20 on on IN cord-014712-5u4e00q6 956 21 the the DT cord-014712-5u4e00q6 956 22 second second JJ cord-014712-5u4e00q6 956 23 to to IN cord-014712-5u4e00q6 956 24 fifth fifth JJ cord-014712-5u4e00q6 956 25 day day NN cord-014712-5u4e00q6 956 26 of of IN cord-014712-5u4e00q6 956 27 life life NN cord-014712-5u4e00q6 956 28 ) ) -RRB- cord-014712-5u4e00q6 956 29 . . . cord-014712-5u4e00q6 957 1 Due due IN cord-014712-5u4e00q6 957 2 to to IN cord-014712-5u4e00q6 957 3 possibility possibility NN cord-014712-5u4e00q6 957 4 of of IN cord-014712-5u4e00q6 957 5 absence absence NN cord-014712-5u4e00q6 957 6 for for IN cord-014712-5u4e00q6 957 7 PID PID NNP cord-014712-5u4e00q6 957 8 routine routine JJ cord-014712-5u4e00q6 957 9 genetic genetic JJ cord-014712-5u4e00q6 957 10 identification identification NN cord-014712-5u4e00q6 957 11 in in IN cord-014712-5u4e00q6 957 12 only only JJ cord-014712-5u4e00q6 957 13 few few JJ cord-014712-5u4e00q6 957 14 SCID SCID NNP cord-014712-5u4e00q6 957 15 forms form NNS cord-014712-5u4e00q6 957 16 were be VBD cord-014712-5u4e00q6 957 17 identified identify VBN cord-014712-5u4e00q6 957 18 precisely precisely RB cord-014712-5u4e00q6 957 19 . . . cord-014712-5u4e00q6 958 1 Children child NNS cord-014712-5u4e00q6 958 2 's 's POS cord-014712-5u4e00q6 958 3 Hospital Hospital NNP cord-014712-5u4e00q6 958 4 , , , cord-014712-5u4e00q6 958 5 University University NNP cord-014712-5u4e00q6 958 6 of of IN cord-014712-5u4e00q6 958 7 Freiburg Freiburg NNP cord-014712-5u4e00q6 958 8 , , , cord-014712-5u4e00q6 958 9 Freiburg Freiburg NNP cord-014712-5u4e00q6 958 10 , , , cord-014712-5u4e00q6 958 11 Germany Germany NNP cord-014712-5u4e00q6 958 12 . . . cord-014712-5u4e00q6 959 1 Purpose purpose NN cord-014712-5u4e00q6 959 2 : : : cord-014712-5u4e00q6 959 3 IPEX IPEX NNP cord-014712-5u4e00q6 960 1 ( ( -LRB- cord-014712-5u4e00q6 960 2 Immunodysregulation Immunodysregulation NNP cord-014712-5u4e00q6 960 3 , , , cord-014712-5u4e00q6 960 4 Polyendocrinopathy Polyendocrinopathy NNP cord-014712-5u4e00q6 960 5 , , , cord-014712-5u4e00q6 960 6 Enteropathy Enteropathy NNP cord-014712-5u4e00q6 960 7 , , , cord-014712-5u4e00q6 960 8 X x NN cord-014712-5u4e00q6 960 9 - - HYPH cord-014712-5u4e00q6 960 10 linked link VBN cord-014712-5u4e00q6 960 11 ) ) -RRB- cord-014712-5u4e00q6 960 12 is be VBZ cord-014712-5u4e00q6 960 13 a a DT cord-014712-5u4e00q6 960 14 rare rare JJ cord-014712-5u4e00q6 960 15 X x NN cord-014712-5u4e00q6 960 16 - - HYPH cord-014712-5u4e00q6 960 17 linked link VBN cord-014712-5u4e00q6 960 18 recessive recessive JJ cord-014712-5u4e00q6 960 19 life life NN cord-014712-5u4e00q6 960 20 - - HYPH cord-014712-5u4e00q6 960 21 threatening threaten VBG cord-014712-5u4e00q6 960 22 disorder disorder NN cord-014712-5u4e00q6 960 23 characterized characterize VBN cord-014712-5u4e00q6 960 24 by by IN cord-014712-5u4e00q6 960 25 autoimmunity autoimmunity NN cord-014712-5u4e00q6 960 26 and and CC cord-014712-5u4e00q6 960 27 early early JJ cord-014712-5u4e00q6 960 28 death death NN cord-014712-5u4e00q6 960 29 . . . cord-014712-5u4e00q6 961 1 Pulmonary pulmonary JJ cord-014712-5u4e00q6 961 2 complication complication NN cord-014712-5u4e00q6 961 3 related relate VBN cord-014712-5u4e00q6 961 4 with with IN cord-014712-5u4e00q6 961 5 IPEX IPEX NNP cord-014712-5u4e00q6 961 6 has have VBZ cord-014712-5u4e00q6 961 7 not not RB cord-014712-5u4e00q6 961 8 elucidated elucidate VBN cord-014712-5u4e00q6 961 9 exactly exactly RB cord-014712-5u4e00q6 961 10 . . . cord-014712-5u4e00q6 962 1 Here here RB cord-014712-5u4e00q6 962 2 , , , cord-014712-5u4e00q6 962 3 we -PRON- PRP cord-014712-5u4e00q6 962 4 report report VBP cord-014712-5u4e00q6 962 5 4 4 CD cord-014712-5u4e00q6 962 6 I.E. I.E. NNP cord-014712-5u4e00q6 962 7 patients patient NNS cord-014712-5u4e00q6 962 8 , , , cord-014712-5u4e00q6 962 9 3 3 CD cord-014712-5u4e00q6 962 10 of of IN cord-014712-5u4e00q6 962 11 which which WDT cord-014712-5u4e00q6 962 12 died die VBD cord-014712-5u4e00q6 962 13 from from IN cord-014712-5u4e00q6 962 14 severe severe JJ cord-014712-5u4e00q6 962 15 pulmonary pulmonary JJ cord-014712-5u4e00q6 962 16 disease disease NN cord-014712-5u4e00q6 962 17 . . . cord-014712-5u4e00q6 963 1 Methods method NNS cord-014712-5u4e00q6 963 2 : : : cord-014712-5u4e00q6 963 3 Clinical clinical JJ cord-014712-5u4e00q6 963 4 data datum NNS cord-014712-5u4e00q6 963 5 and and CC cord-014712-5u4e00q6 963 6 laboratory laboratory NN cord-014712-5u4e00q6 963 7 findings finding NNS cord-014712-5u4e00q6 963 8 included include VBD cord-014712-5u4e00q6 963 9 autoantibodies autoantibody NNS cord-014712-5u4e00q6 963 10 , , , cord-014712-5u4e00q6 963 11 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 963 12 levels level NNS cord-014712-5u4e00q6 963 13 as as RB cord-014712-5u4e00q6 963 14 well well RB cord-014712-5u4e00q6 963 15 as as IN cord-014712-5u4e00q6 963 16 number number NN cord-014712-5u4e00q6 963 17 of of IN cord-014712-5u4e00q6 963 18 T T NNP cord-014712-5u4e00q6 963 19 , , , cord-014712-5u4e00q6 963 20 B B NNP cord-014712-5u4e00q6 963 21 and and CC cord-014712-5u4e00q6 963 22 NK NK NNP cord-014712-5u4e00q6 963 23 cells cell NNS cord-014712-5u4e00q6 963 24 were be VBD cord-014712-5u4e00q6 963 25 evaluated evaluate VBN cord-014712-5u4e00q6 963 26 . . . cord-014712-5u4e00q6 964 1 FOXP3 FOXP3 NNP cord-014712-5u4e00q6 964 2 expression expression NN cord-014712-5u4e00q6 964 3 was be VBD cord-014712-5u4e00q6 964 4 performed perform VBN cord-014712-5u4e00q6 964 5 by by IN cord-014712-5u4e00q6 964 6 flow flow NN cord-014712-5u4e00q6 964 7 cytometry cytometry NN cord-014712-5u4e00q6 964 8 . . . cord-014712-5u4e00q6 965 1 Genomic genomic JJ cord-014712-5u4e00q6 965 2 DNA dna NN cord-014712-5u4e00q6 965 3 was be VBD cord-014712-5u4e00q6 965 4 isolated isolate VBN cord-014712-5u4e00q6 965 5 and and CC cord-014712-5u4e00q6 965 6 all all DT cord-014712-5u4e00q6 965 7 exons exon NNS cord-014712-5u4e00q6 965 8 and and CC cord-014712-5u4e00q6 965 9 exon exon NN cord-014712-5u4e00q6 965 10 - - HYPH cord-014712-5u4e00q6 965 11 intron intron NN cord-014712-5u4e00q6 965 12 boundaries boundary NNS cord-014712-5u4e00q6 965 13 of of IN cord-014712-5u4e00q6 965 14 the the DT cord-014712-5u4e00q6 965 15 FOXP3 FOXP3 NNP cord-014712-5u4e00q6 965 16 gene gene NN cord-014712-5u4e00q6 965 17 were be VBD cord-014712-5u4e00q6 965 18 sequenced sequence VBN cord-014712-5u4e00q6 965 19 by by IN cord-014712-5u4e00q6 965 20 Sanger Sanger NNP cord-014712-5u4e00q6 965 21 sequencing sequencing NN cord-014712-5u4e00q6 965 22 . . . cord-014712-5u4e00q6 966 1 Results result NNS cord-014712-5u4e00q6 966 2 : : : cord-014712-5u4e00q6 967 1 Patient patient JJ cord-014712-5u4e00q6 967 2 I -PRON- PRP cord-014712-5u4e00q6 967 3 ( ( -LRB- cord-014712-5u4e00q6 967 4 PI PI NNP cord-014712-5u4e00q6 967 5 ) ) -RRB- cord-014712-5u4e00q6 967 6 presented present VBN cord-014712-5u4e00q6 967 7 with with IN cord-014712-5u4e00q6 967 8 nephrotic nephrotic JJ cord-014712-5u4e00q6 967 9 syndrome syndrome NN cord-014712-5u4e00q6 967 10 at at IN cord-014712-5u4e00q6 967 11 3 3 CD cord-014712-5u4e00q6 967 12 years year NNS cord-014712-5u4e00q6 967 13 of of IN cord-014712-5u4e00q6 967 14 age age NN cord-014712-5u4e00q6 967 15 and and CC cord-014712-5u4e00q6 967 16 then then RB cord-014712-5u4e00q6 967 17 developed develop VBD cord-014712-5u4e00q6 967 18 autoimmune autoimmune JJ cord-014712-5u4e00q6 967 19 hepatitis hepatitis NN cord-014712-5u4e00q6 967 20 without without IN cord-014712-5u4e00q6 967 21 eczema eczema NN cord-014712-5u4e00q6 967 22 , , , cord-014712-5u4e00q6 967 23 enteropathy enteropathy NNP cord-014712-5u4e00q6 967 24 or or CC cord-014712-5u4e00q6 967 25 high high JJ cord-014712-5u4e00q6 967 26 IgE IgE NNP cord-014712-5u4e00q6 967 27 and and CC cord-014712-5u4e00q6 967 28 died die VBD cord-014712-5u4e00q6 967 29 at at IN cord-014712-5u4e00q6 967 30 9 9 CD cord-014712-5u4e00q6 967 31 years year NNS cord-014712-5u4e00q6 967 32 of of IN cord-014712-5u4e00q6 967 33 age age NN cord-014712-5u4e00q6 967 34 due due JJ cord-014712-5u4e00q6 967 35 to to IN cord-014712-5u4e00q6 967 36 acute acute JJ cord-014712-5u4e00q6 967 37 respiratory respiratory JJ cord-014712-5u4e00q6 967 38 distress distress NN cord-014712-5u4e00q6 967 39 syndrome syndrome NN cord-014712-5u4e00q6 967 40 ( ( -LRB- cord-014712-5u4e00q6 967 41 ARDS ARDS NNP cord-014712-5u4e00q6 967 42 ) ) -RRB- cord-014712-5u4e00q6 967 43 . . . cord-014712-5u4e00q6 968 1 Two two CD cord-014712-5u4e00q6 968 2 cousins cousin NNS cord-014712-5u4e00q6 968 3 of of IN cord-014712-5u4e00q6 968 4 PI PI NNP cord-014712-5u4e00q6 968 5 had have VBD cord-014712-5u4e00q6 968 6 the the DT cord-014712-5u4e00q6 968 7 same same JJ cord-014712-5u4e00q6 968 8 hypomorphic hypomorphic JJ cord-014712-5u4e00q6 968 9 splice splice NN cord-014712-5u4e00q6 968 10 site site NN cord-014712-5u4e00q6 968 11 mutation mutation NN cord-014712-5u4e00q6 968 12 leading lead VBG cord-014712-5u4e00q6 968 13 to to IN cord-014712-5u4e00q6 968 14 normal normal JJ cord-014712-5u4e00q6 968 15 FOXP3 foxp3 NN cord-014712-5u4e00q6 968 16 protein protein NN cord-014712-5u4e00q6 968 17 expression expression NN cord-014712-5u4e00q6 968 18 and and CC cord-014712-5u4e00q6 968 19 suppressive suppressive JJ cord-014712-5u4e00q6 968 20 capacity capacity NN cord-014712-5u4e00q6 968 21 . . . cord-014712-5u4e00q6 969 1 However however RB cord-014712-5u4e00q6 969 2 , , , cord-014712-5u4e00q6 969 3 they -PRON- PRP cord-014712-5u4e00q6 969 4 exhibited exhibit VBD cord-014712-5u4e00q6 969 5 typical typical JJ cord-014712-5u4e00q6 969 6 symptoms symptom NNS cord-014712-5u4e00q6 969 7 such such JJ cord-014712-5u4e00q6 969 8 as as IN cord-014712-5u4e00q6 969 9 eczema eczema NN cord-014712-5u4e00q6 969 10 , , , cord-014712-5u4e00q6 969 11 diabetes diabetes NN cord-014712-5u4e00q6 969 12 and and CC cord-014712-5u4e00q6 969 13 enteropathy enteropathy VBZ cord-014712-5u4e00q6 969 14 with with IN cord-014712-5u4e00q6 969 15 eosinophilia eosinophilia NN cord-014712-5u4e00q6 969 16 at at IN cord-014712-5u4e00q6 969 17 early early JJ cord-014712-5u4e00q6 969 18 age age NN cord-014712-5u4e00q6 969 19 ( ( -LRB- cord-014712-5u4e00q6 969 20 PII PII NNP cord-014712-5u4e00q6 969 21 , , , cord-014712-5u4e00q6 969 22 PIII PIII NNP cord-014712-5u4e00q6 969 23 ) ) -RRB- cord-014712-5u4e00q6 969 24 and and CC cord-014712-5u4e00q6 969 25 were be VBD cord-014712-5u4e00q6 969 26 transplanted transplant VBN cord-014712-5u4e00q6 969 27 in in IN cord-014712-5u4e00q6 969 28 infancy infancy NN cord-014712-5u4e00q6 969 29 . . . cord-014712-5u4e00q6 970 1 One one CD cord-014712-5u4e00q6 970 2 of of IN cord-014712-5u4e00q6 970 3 them -PRON- PRP cord-014712-5u4e00q6 970 4 had have VBD cord-014712-5u4e00q6 970 5 severe severe JJ cord-014712-5u4e00q6 970 6 respiratory respiratory JJ cord-014712-5u4e00q6 970 7 distress distress NN cord-014712-5u4e00q6 970 8 right right RB cord-014712-5u4e00q6 970 9 after after IN cord-014712-5u4e00q6 970 10 birth birth NN cord-014712-5u4e00q6 970 11 ( ( -LRB- cord-014712-5u4e00q6 970 12 PIII PIII NNP cord-014712-5u4e00q6 970 13 ) ) -RRB- cord-014712-5u4e00q6 970 14 . . . cord-014712-5u4e00q6 971 1 Patient patient JJ cord-014712-5u4e00q6 971 2 IV IV NNP cord-014712-5u4e00q6 971 3 from from IN cord-014712-5u4e00q6 971 4 another another DT cord-014712-5u4e00q6 971 5 family family NN cord-014712-5u4e00q6 971 6 presented present VBN cord-014712-5u4e00q6 971 7 with with IN cord-014712-5u4e00q6 971 8 chronic chronic JJ cord-014712-5u4e00q6 971 9 diarrhea diarrhea NN cord-014712-5u4e00q6 971 10 without without IN cord-014712-5u4e00q6 971 11 autoimmune autoimmune JJ cord-014712-5u4e00q6 971 12 manifestations manifestation NNS cord-014712-5u4e00q6 971 13 and and CC cord-014712-5u4e00q6 971 14 died die VBD cord-014712-5u4e00q6 971 15 due due IN cord-014712-5u4e00q6 971 16 to to IN cord-014712-5u4e00q6 971 17 ARDS ARDS NNP cord-014712-5u4e00q6 971 18 . . . cord-014712-5u4e00q6 972 1 Conclusion conclusion NN cord-014712-5u4e00q6 972 2 : : : cord-014712-5u4e00q6 972 3 Lung lung NN cord-014712-5u4e00q6 972 4 disease disease NN cord-014712-5u4e00q6 972 5 related relate VBN cord-014712-5u4e00q6 972 6 to to IN cord-014712-5u4e00q6 972 7 IPEX IPEX NNP cord-014712-5u4e00q6 972 8 syndrome syndrome NN cord-014712-5u4e00q6 972 9 has have VBZ cord-014712-5u4e00q6 972 10 not not RB cord-014712-5u4e00q6 972 11 been be VBN cord-014712-5u4e00q6 972 12 reported report VBN cord-014712-5u4e00q6 972 13 before before RB cord-014712-5u4e00q6 972 14 and and CC cord-014712-5u4e00q6 972 15 this this DT cord-014712-5u4e00q6 972 16 entity entity NN cord-014712-5u4e00q6 972 17 could could MD cord-014712-5u4e00q6 972 18 be be VB cord-014712-5u4e00q6 972 19 a a DT cord-014712-5u4e00q6 972 20 critical critical JJ cord-014712-5u4e00q6 972 21 factor factor NN cord-014712-5u4e00q6 972 22 in in IN cord-014712-5u4e00q6 972 23 disease disease NN cord-014712-5u4e00q6 972 24 outcome outcome NN cord-014712-5u4e00q6 972 25 . . . cord-014712-5u4e00q6 973 1 Severe severe JJ cord-014712-5u4e00q6 973 2 combined combined JJ cord-014712-5u4e00q6 973 3 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 973 4 ( ( -LRB- cord-014712-5u4e00q6 973 5 SCIDs SCIDs NNP cord-014712-5u4e00q6 973 6 ) ) -RRB- cord-014712-5u4e00q6 973 7 are be VBP cord-014712-5u4e00q6 973 8 a a DT cord-014712-5u4e00q6 973 9 group group NN cord-014712-5u4e00q6 973 10 of of IN cord-014712-5u4e00q6 973 11 primary primary JJ cord-014712-5u4e00q6 973 12 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 973 13 that that WDT cord-014712-5u4e00q6 973 14 comprise comprise VBP cord-014712-5u4e00q6 973 15 a a DT cord-014712-5u4e00q6 973 16 number number NN cord-014712-5u4e00q6 973 17 of of IN cord-014712-5u4e00q6 973 18 monogenic monogenic NNP cord-014712-5u4e00q6 973 19 disorders disorder NNS cord-014712-5u4e00q6 973 20 characterized characterize VBN cord-014712-5u4e00q6 973 21 by by IN cord-014712-5u4e00q6 973 22 a a DT cord-014712-5u4e00q6 973 23 block block NN cord-014712-5u4e00q6 973 24 in in IN cord-014712-5u4e00q6 973 25 T t NN cord-014712-5u4e00q6 973 26 cell cell NN cord-014712-5u4e00q6 973 27 differentiation differentiation NN cord-014712-5u4e00q6 973 28 with with IN cord-014712-5u4e00q6 973 29 or or CC cord-014712-5u4e00q6 973 30 without without IN cord-014712-5u4e00q6 973 31 impairment impairment NN cord-014712-5u4e00q6 973 32 of of IN cord-014712-5u4e00q6 973 33 B b NN cord-014712-5u4e00q6 973 34 cell cell NN cord-014712-5u4e00q6 973 35 and and CC cord-014712-5u4e00q6 973 36 natural natural JJ cord-014712-5u4e00q6 973 37 killer killer NN cord-014712-5u4e00q6 973 38 ( ( -LRB- cord-014712-5u4e00q6 973 39 NK NK NNP cord-014712-5u4e00q6 973 40 ) ) -RRB- cord-014712-5u4e00q6 973 41 cells cell NNS cord-014712-5u4e00q6 973 42 . . . cord-014712-5u4e00q6 974 1 Without without IN cord-014712-5u4e00q6 974 2 early early JJ cord-014712-5u4e00q6 974 3 diagnosis diagnosis NN cord-014712-5u4e00q6 974 4 and and CC cord-014712-5u4e00q6 974 5 treatment treatment NN cord-014712-5u4e00q6 974 6 most most JJS cord-014712-5u4e00q6 974 7 children child NNS cord-014712-5u4e00q6 974 8 die die VBP cord-014712-5u4e00q6 974 9 in in IN cord-014712-5u4e00q6 974 10 the the DT cord-014712-5u4e00q6 974 11 first first JJ cord-014712-5u4e00q6 974 12 year year NN cord-014712-5u4e00q6 974 13 of of IN cord-014712-5u4e00q6 974 14 life life NN cord-014712-5u4e00q6 974 15 . . . cord-014712-5u4e00q6 975 1 A a DT cord-014712-5u4e00q6 975 2 lack lack NN cord-014712-5u4e00q6 975 3 or or CC cord-014712-5u4e00q6 975 4 very very RB cord-014712-5u4e00q6 975 5 low low JJ cord-014712-5u4e00q6 975 6 number number NN cord-014712-5u4e00q6 975 7 of of IN cord-014712-5u4e00q6 975 8 T t NN cord-014712-5u4e00q6 975 9 - - HYPH cord-014712-5u4e00q6 975 10 cell cell NN cord-014712-5u4e00q6 975 11 receptor receptor NN cord-014712-5u4e00q6 975 12 excision excision NN cord-014712-5u4e00q6 975 13 circle circle NN cord-014712-5u4e00q6 975 14 ( ( -LRB- cord-014712-5u4e00q6 975 15 TREC TREC NNP cord-014712-5u4e00q6 975 16 ) ) -RRB- cord-014712-5u4e00q6 975 17 detected detect VBN cord-014712-5u4e00q6 975 18 by by IN cord-014712-5u4e00q6 975 19 realtime realtime JJ cord-014712-5u4e00q6 975 20 quantitative quantitative JJ cord-014712-5u4e00q6 975 21 polymerase polymerase NN cord-014712-5u4e00q6 975 22 chain chain NN cord-014712-5u4e00q6 975 23 reaction reaction NN cord-014712-5u4e00q6 975 24 assay assay NN cord-014712-5u4e00q6 975 25 ( ( -LRB- cord-014712-5u4e00q6 975 26 qPCR qPCR NNP cord-014712-5u4e00q6 975 27 ) ) -RRB- cord-014712-5u4e00q6 975 28 is be VBZ cord-014712-5u4e00q6 975 29 consistent consistent JJ cord-014712-5u4e00q6 975 30 with with IN cord-014712-5u4e00q6 975 31 T t NN cord-014712-5u4e00q6 975 32 - - HYPH cord-014712-5u4e00q6 975 33 cell cell NN cord-014712-5u4e00q6 975 34 lymphopenia lymphopenia NNP cord-014712-5u4e00q6 975 35 and and CC cord-014712-5u4e00q6 975 36 has have VBZ cord-014712-5u4e00q6 975 37 repeatedly repeatedly RB cord-014712-5u4e00q6 975 38 demonstrated demonstrate VBN cord-014712-5u4e00q6 975 39 clinical clinical JJ cord-014712-5u4e00q6 975 40 validity validity NN cord-014712-5u4e00q6 975 41 in in IN cord-014712-5u4e00q6 975 42 population population NN cord-014712-5u4e00q6 975 43 based base VBN cord-014712-5u4e00q6 975 44 newborn newborn JJ cord-014712-5u4e00q6 975 45 screening screening NN cord-014712-5u4e00q6 975 46 for for IN cord-014712-5u4e00q6 975 47 SCID SCID NNP cord-014712-5u4e00q6 975 48 . . . cord-014712-5u4e00q6 976 1 However however RB cord-014712-5u4e00q6 976 2 , , , cord-014712-5u4e00q6 976 3 the the DT cord-014712-5u4e00q6 976 4 impact impact NN cord-014712-5u4e00q6 976 5 of of IN cord-014712-5u4e00q6 976 6 population population NN cord-014712-5u4e00q6 976 7 screening screening NN cord-014712-5u4e00q6 976 8 will will MD cord-014712-5u4e00q6 976 9 be be VB cord-014712-5u4e00q6 976 10 less less JJR cord-014712-5u4e00q6 976 11 in in IN cord-014712-5u4e00q6 976 12 communities community NNS cord-014712-5u4e00q6 976 13 with with IN cord-014712-5u4e00q6 976 14 high high JJ cord-014712-5u4e00q6 976 15 consanguinity consanguinity NN cord-014712-5u4e00q6 976 16 and and CC cord-014712-5u4e00q6 976 17 family family NN cord-014712-5u4e00q6 976 18 history history NN cord-014712-5u4e00q6 976 19 of of IN cord-014712-5u4e00q6 976 20 SCID SCID NNP cord-014712-5u4e00q6 976 21 , , , cord-014712-5u4e00q6 976 22 in in IN cord-014712-5u4e00q6 976 23 which which WDT cord-014712-5u4e00q6 976 24 targeted target VBN cord-014712-5u4e00q6 976 25 screening screening NN cord-014712-5u4e00q6 976 26 may may MD cord-014712-5u4e00q6 976 27 be be VB cord-014712-5u4e00q6 976 28 more more RBR cord-014712-5u4e00q6 976 29 appropriate appropriate JJ cord-014712-5u4e00q6 976 30 . . . cord-014712-5u4e00q6 977 1 Here here RB cord-014712-5u4e00q6 977 2 , , , cord-014712-5u4e00q6 977 3 we -PRON- PRP cord-014712-5u4e00q6 977 4 screened screen VBD cord-014712-5u4e00q6 977 5 100 100 CD cord-014712-5u4e00q6 977 6 high high JJ cord-014712-5u4e00q6 977 7 risk risk NN cord-014712-5u4e00q6 977 8 neonates neonate NNS cord-014712-5u4e00q6 977 9 and and CC cord-014712-5u4e00q6 977 10 infants infant NNS cord-014712-5u4e00q6 977 11 ( ( -LRB- cord-014712-5u4e00q6 977 12 with with IN cord-014712-5u4e00q6 977 13 one one CD cord-014712-5u4e00q6 977 14 or or CC cord-014712-5u4e00q6 977 15 more more JJR cord-014712-5u4e00q6 977 16 of of IN cord-014712-5u4e00q6 977 17 the the DT cord-014712-5u4e00q6 977 18 following follow VBG cord-014712-5u4e00q6 977 19 : : : cord-014712-5u4e00q6 977 20 clinical clinical JJ cord-014712-5u4e00q6 977 21 presentation presentation NN cord-014712-5u4e00q6 977 22 and/or and/or CC cord-014712-5u4e00q6 977 23 family family NN cord-014712-5u4e00q6 977 24 history history NN cord-014712-5u4e00q6 977 25 suggestive suggestive JJ cord-014712-5u4e00q6 977 26 of of IN cord-014712-5u4e00q6 977 27 PID pid NN cord-014712-5u4e00q6 977 28 , , , cord-014712-5u4e00q6 977 29 failure failure NN cord-014712-5u4e00q6 977 30 to to TO cord-014712-5u4e00q6 977 31 thrive thrive VB cord-014712-5u4e00q6 977 32 otherwise otherwise RB cord-014712-5u4e00q6 977 33 unexplained unexplained JJ cord-014712-5u4e00q6 977 34 , , , cord-014712-5u4e00q6 977 35 lymphopenia lymphopenia NNP cord-014712-5u4e00q6 977 36 ) ) -RRB- cord-014712-5u4e00q6 977 37 at at IN cord-014712-5u4e00q6 977 38 Cairo Cairo NNP cord-014712-5u4e00q6 977 39 University University NNP cord-014712-5u4e00q6 977 40 Hospitals Hospitals NNPS cord-014712-5u4e00q6 977 41 . . . cord-014712-5u4e00q6 978 1 Their -PRON- PRP$ cord-014712-5u4e00q6 978 2 full full JJ cord-014712-5u4e00q6 978 3 history history NN cord-014712-5u4e00q6 978 4 and and CC cord-014712-5u4e00q6 978 5 clinical clinical JJ cord-014712-5u4e00q6 978 6 examination examination NN cord-014712-5u4e00q6 978 7 were be VBD cord-014712-5u4e00q6 978 8 recorded record VBN cord-014712-5u4e00q6 978 9 . . . cord-014712-5u4e00q6 979 1 Immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 979 2 profile profile NN cord-014712-5u4e00q6 979 3 and and CC cord-014712-5u4e00q6 979 4 immunophenotyping immunophenotyping NN cord-014712-5u4e00q6 979 5 of of IN cord-014712-5u4e00q6 979 6 peripheral peripheral JJ cord-014712-5u4e00q6 979 7 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 979 8 were be VBD cord-014712-5u4e00q6 979 9 performed perform VBN cord-014712-5u4e00q6 979 10 as as IN cord-014712-5u4e00q6 979 11 confirmatory confirmatory JJ cord-014712-5u4e00q6 979 12 tests test NNS cord-014712-5u4e00q6 979 13 . . . cord-014712-5u4e00q6 980 1 Sixteen sixteen CD cord-014712-5u4e00q6 980 2 classical classical JJ cord-014712-5u4e00q6 980 3 SCID SCID NNP cord-014712-5u4e00q6 980 4 cases case NNS cord-014712-5u4e00q6 980 5 were be VBD cord-014712-5u4e00q6 980 6 detected detect VBN cord-014712-5u4e00q6 980 7 , , , cord-014712-5u4e00q6 980 8 as as RB cord-014712-5u4e00q6 980 9 well well RB cord-014712-5u4e00q6 980 10 as as IN cord-014712-5u4e00q6 980 11 another another DT cord-014712-5u4e00q6 980 12 2 2 CD cord-014712-5u4e00q6 980 13 SCID SCID NNP cord-014712-5u4e00q6 980 14 variants variant NNS cord-014712-5u4e00q6 980 15 ( ( -LRB- cord-014712-5u4e00q6 980 16 Omenn Omenn NNP cord-014712-5u4e00q6 980 17 syndrome syndrome NN cord-014712-5u4e00q6 980 18 and and CC cord-014712-5u4e00q6 980 19 Major Major NNP cord-014712-5u4e00q6 980 20 Histocompatibility Histocompatibility NNP cord-014712-5u4e00q6 980 21 Complex Complex NNP cord-014712-5u4e00q6 980 22 class class NN cord-014712-5u4e00q6 980 23 II ii CD cord-014712-5u4e00q6 980 24 deficiency deficiency NN cord-014712-5u4e00q6 980 25 ) ) -RRB- cord-014712-5u4e00q6 980 26 ( ( -LRB- cord-014712-5u4e00q6 980 27 totally totally RB cord-014712-5u4e00q6 980 28 18.4 18.4 CD cord-014712-5u4e00q6 980 29 % % NN cord-014712-5u4e00q6 980 30 of of IN cord-014712-5u4e00q6 980 31 all all DT cord-014712-5u4e00q6 980 32 subjects subject NNS cord-014712-5u4e00q6 980 33 screened screen VBN cord-014712-5u4e00q6 980 34 ) ) -RRB- cord-014712-5u4e00q6 980 35 . . . cord-014712-5u4e00q6 981 1 The the DT cord-014712-5u4e00q6 981 2 rate rate NN cord-014712-5u4e00q6 981 3 of of IN cord-014712-5u4e00q6 981 4 consanguinity consanguinity NN cord-014712-5u4e00q6 981 5 in in IN cord-014712-5u4e00q6 981 6 this this DT cord-014712-5u4e00q6 981 7 group group NN cord-014712-5u4e00q6 981 8 was be VBD cord-014712-5u4e00q6 981 9 77.8 77.8 CD cord-014712-5u4e00q6 981 10 % % NN cord-014712-5u4e00q6 981 11 . . . cord-014712-5u4e00q6 982 1 Secondary secondary JJ cord-014712-5u4e00q6 982 2 causes cause NNS cord-014712-5u4e00q6 982 3 of of IN cord-014712-5u4e00q6 982 4 Low Low NNP cord-014712-5u4e00q6 982 5 TRECs trec NNS cord-014712-5u4e00q6 982 6 , , , cord-014712-5u4e00q6 982 7 other other JJ cord-014712-5u4e00q6 982 8 than than IN cord-014712-5u4e00q6 982 9 SCID SCID NNP cord-014712-5u4e00q6 983 1 , , , cord-014712-5u4e00q6 983 2 in in IN cord-014712-5u4e00q6 983 3 our -PRON- PRP$ cord-014712-5u4e00q6 983 4 series series NN cord-014712-5u4e00q6 983 5 included include VBD cord-014712-5u4e00q6 983 6 : : : cord-014712-5u4e00q6 983 7 bacterial bacterial JJ cord-014712-5u4e00q6 983 8 septicemia septicemia NN cord-014712-5u4e00q6 983 9 ( ( -LRB- cord-014712-5u4e00q6 983 10 4 4 CD cord-014712-5u4e00q6 983 11 preterm preterm NNS cord-014712-5u4e00q6 983 12 , , , cord-014712-5u4e00q6 983 13 1full 1full CD cord-014712-5u4e00q6 983 14 - - HYPH cord-014712-5u4e00q6 983 15 term term NN cord-014712-5u4e00q6 983 16 ) ) -RRB- cord-014712-5u4e00q6 983 17 , , , cord-014712-5u4e00q6 983 18 prematurity prematurity NN cord-014712-5u4e00q6 983 19 ( ( -LRB- cord-014712-5u4e00q6 983 20 2 2 CD cord-014712-5u4e00q6 983 21 cases case NNS cord-014712-5u4e00q6 983 22 ) ) -RRB- cord-014712-5u4e00q6 983 23 , , , cord-014712-5u4e00q6 983 24 one one CD cord-014712-5u4e00q6 983 25 preterm preterm JJ cord-014712-5u4e00q6 983 26 with with IN cord-014712-5u4e00q6 983 27 omphalocele omphalocele NNP cord-014712-5u4e00q6 983 28 and and CC cord-014712-5u4e00q6 983 29 facial facial JJ cord-014712-5u4e00q6 983 30 dysmorphism dysmorphism NN cord-014712-5u4e00q6 983 31 , , , cord-014712-5u4e00q6 983 32 one one CD cord-014712-5u4e00q6 983 33 preterm preterm JJR cord-014712-5u4e00q6 983 34 with with IN cord-014712-5u4e00q6 983 35 Congenital congenital JJ cord-014712-5u4e00q6 983 36 Adrenal adrenal JJ cord-014712-5u4e00q6 983 37 Hyperplasia hyperplasia NN cord-014712-5u4e00q6 983 38 , , , cord-014712-5u4e00q6 983 39 one one CD cord-014712-5u4e00q6 983 40 full full JJ cord-014712-5u4e00q6 983 41 term term NN cord-014712-5u4e00q6 983 42 with with IN cord-014712-5u4e00q6 983 43 Microvillus Microvillus NNP cord-014712-5u4e00q6 983 44 Inclusion Inclusion NNP cord-014712-5u4e00q6 983 45 Disease Disease NNP cord-014712-5u4e00q6 983 46 , , , cord-014712-5u4e00q6 983 47 and and CC cord-014712-5u4e00q6 983 48 one one CD cord-014712-5u4e00q6 983 49 full full JJ cord-014712-5u4e00q6 983 50 term term NN cord-014712-5u4e00q6 983 51 with with IN cord-014712-5u4e00q6 983 52 Idiopathic Idiopathic NNP cord-014712-5u4e00q6 983 53 Tcell Tcell NNP cord-014712-5u4e00q6 983 54 lymphopenia lymphopenia NNP cord-014712-5u4e00q6 983 55 . . . cord-014712-5u4e00q6 984 1 This this DT cord-014712-5u4e00q6 984 2 demonstrates demonstrate VBZ cord-014712-5u4e00q6 984 3 that that IN cord-014712-5u4e00q6 984 4 in in IN cord-014712-5u4e00q6 984 5 populations population NNS cord-014712-5u4e00q6 984 6 with with IN cord-014712-5u4e00q6 984 7 high high JJ cord-014712-5u4e00q6 984 8 consanguinity consanguinity NN cord-014712-5u4e00q6 984 9 rates rate NNS cord-014712-5u4e00q6 984 10 , , , cord-014712-5u4e00q6 984 11 as as IN cord-014712-5u4e00q6 984 12 in in IN cord-014712-5u4e00q6 984 13 Egypt Egypt NNP cord-014712-5u4e00q6 984 14 , , , cord-014712-5u4e00q6 984 15 targeted target VBN cord-014712-5u4e00q6 984 16 ( ( -LRB- cord-014712-5u4e00q6 984 17 non non JJ cord-014712-5u4e00q6 984 18 - - JJ cord-014712-5u4e00q6 984 19 population population JJ cord-014712-5u4e00q6 984 20 based base VBN cord-014712-5u4e00q6 984 21 ) ) -RRB- cord-014712-5u4e00q6 985 1 TRECs trec NNS cord-014712-5u4e00q6 985 2 assay assay NN cord-014712-5u4e00q6 985 3 may may MD cord-014712-5u4e00q6 985 4 provide provide VB cord-014712-5u4e00q6 985 5 a a DT cord-014712-5u4e00q6 985 6 more more RBR cord-014712-5u4e00q6 985 7 efficient efficient JJ cord-014712-5u4e00q6 985 8 screening screening NN cord-014712-5u4e00q6 985 9 strategy strategy NN cord-014712-5u4e00q6 985 10 . . . cord-014712-5u4e00q6 986 1 CASE case NN cord-014712-5u4e00q6 986 2 1 1 CD cord-014712-5u4e00q6 986 3 : : : cord-014712-5u4e00q6 987 1 A a DT cord-014712-5u4e00q6 987 2 is be VBZ cord-014712-5u4e00q6 987 3 a a DT cord-014712-5u4e00q6 987 4 4 4 CD cord-014712-5u4e00q6 987 5 years year NNS cord-014712-5u4e00q6 987 6 old old JJ cord-014712-5u4e00q6 987 7 Female Female NNP cord-014712-5u4e00q6 987 8 , , , cord-014712-5u4e00q6 987 9 1 1 CD cord-014712-5u4e00q6 987 10 st st NNP cord-014712-5u4e00q6 987 11 kid kid NN cord-014712-5u4e00q6 987 12 of of IN cord-014712-5u4e00q6 987 13 non non JJ cord-014712-5u4e00q6 987 14 consanguineous consanguineous JJ cord-014712-5u4e00q6 987 15 marriage marriage NN cord-014712-5u4e00q6 987 16 presented present VBN cord-014712-5u4e00q6 987 17 with with IN cord-014712-5u4e00q6 987 18 fever fever NN cord-014712-5u4e00q6 987 19 for for IN cord-014712-5u4e00q6 987 20 5 5 CD cord-014712-5u4e00q6 987 21 months month NNS cord-014712-5u4e00q6 987 22 . . . cord-014712-5u4e00q6 988 1 One one CD cord-014712-5u4e00q6 988 2 week week NN cord-014712-5u4e00q6 988 3 after after IN cord-014712-5u4e00q6 988 4 the the DT cord-014712-5u4e00q6 988 5 onset onset NN cord-014712-5u4e00q6 988 6 of of IN cord-014712-5u4e00q6 988 7 the the DT cord-014712-5u4e00q6 988 8 fever fever NN cord-014712-5u4e00q6 988 9 red red JJ cord-014712-5u4e00q6 988 10 patches patch NNS cord-014712-5u4e00q6 988 11 appeared appear VBD cord-014712-5u4e00q6 988 12 on on IN cord-014712-5u4e00q6 988 13 the the DT cord-014712-5u4e00q6 988 14 face face NN cord-014712-5u4e00q6 988 15 , , , cord-014712-5u4e00q6 988 16 hands hand NNS cord-014712-5u4e00q6 988 17 , , , cord-014712-5u4e00q6 988 18 abdomen abdomen NN cord-014712-5u4e00q6 988 19 , , , cord-014712-5u4e00q6 988 20 LL LL NNP cord-014712-5u4e00q6 988 21 . . . cord-014712-5u4e00q6 989 1 Mother mother NN cord-014712-5u4e00q6 989 2 sought seek VBD cord-014712-5u4e00q6 989 3 medical medical JJ cord-014712-5u4e00q6 989 4 advice advice NN cord-014712-5u4e00q6 989 5 and and CC cord-014712-5u4e00q6 989 6 received receive VBD cord-014712-5u4e00q6 989 7 antibiotics antibiotic NNS cord-014712-5u4e00q6 989 8 , , , cord-014712-5u4e00q6 989 9 antipyretics antipyretic NNS cord-014712-5u4e00q6 989 10 and and CC cord-014712-5u4e00q6 989 11 oral oral JJ cord-014712-5u4e00q6 989 12 steroids steroid NNS cord-014712-5u4e00q6 989 13 for for IN cord-014712-5u4e00q6 989 14 about about RB cord-014712-5u4e00q6 989 15 one one CD cord-014712-5u4e00q6 989 16 month month NN cord-014712-5u4e00q6 989 17 with with IN cord-014712-5u4e00q6 989 18 no no DT cord-014712-5u4e00q6 989 19 signs sign NNS cord-014712-5u4e00q6 989 20 of of IN cord-014712-5u4e00q6 989 21 improvements improvement NNS cord-014712-5u4e00q6 989 22 regarding regard VBG cord-014712-5u4e00q6 989 23 fever fever NN cord-014712-5u4e00q6 989 24 . . . cord-014712-5u4e00q6 990 1 One one CD cord-014712-5u4e00q6 990 2 week week NN cord-014712-5u4e00q6 990 3 later later RB cord-014712-5u4e00q6 990 4 the the DT cord-014712-5u4e00q6 990 5 mother mother NN cord-014712-5u4e00q6 990 6 noticed notice VBD cord-014712-5u4e00q6 990 7 pallor pallor NN cord-014712-5u4e00q6 990 8 and and CC cord-014712-5u4e00q6 990 9 sought seek VBD cord-014712-5u4e00q6 990 10 medical medical JJ cord-014712-5u4e00q6 990 11 advice advice NN cord-014712-5u4e00q6 990 12 and and CC cord-014712-5u4e00q6 990 13 the the DT cord-014712-5u4e00q6 990 14 baby baby NN cord-014712-5u4e00q6 990 15 was be VBD cord-014712-5u4e00q6 990 16 admitted admit VBN cord-014712-5u4e00q6 990 17 to to IN cord-014712-5u4e00q6 990 18 local local JJ cord-014712-5u4e00q6 990 19 hospital hospital NN cord-014712-5u4e00q6 990 20 and and CC cord-014712-5u4e00q6 990 21 received receive VBD cord-014712-5u4e00q6 990 22 one one CD cord-014712-5u4e00q6 990 23 bag bag NN cord-014712-5u4e00q6 990 24 of of IN cord-014712-5u4e00q6 990 25 blood blood NN cord-014712-5u4e00q6 990 26 . . . cord-014712-5u4e00q6 991 1 And and CC cord-014712-5u4e00q6 991 2 then then RB cord-014712-5u4e00q6 991 3 she -PRON- PRP cord-014712-5u4e00q6 991 4 was be VBD cord-014712-5u4e00q6 991 5 referred refer VBN cord-014712-5u4e00q6 991 6 to to IN cord-014712-5u4e00q6 991 7 our -PRON- PRP$ cord-014712-5u4e00q6 991 8 hospital hospital NN cord-014712-5u4e00q6 991 9 ( ( -LRB- cord-014712-5u4e00q6 991 10 Zagazig Zagazig NNP cord-014712-5u4e00q6 991 11 University University NNP cord-014712-5u4e00q6 991 12 Hospital Hospital NNP cord-014712-5u4e00q6 991 13 ) ) -RRB- cord-014712-5u4e00q6 991 14 where where WRB cord-014712-5u4e00q6 991 15 she -PRON- PRP cord-014712-5u4e00q6 991 16 developed develop VBD cord-014712-5u4e00q6 991 17 acute acute JJ cord-014712-5u4e00q6 991 18 pallor pallor NN cord-014712-5u4e00q6 991 19 again again RB cord-014712-5u4e00q6 991 20 which which WDT cord-014712-5u4e00q6 991 21 needed need VBD cord-014712-5u4e00q6 991 22 recurrent recurrent JJ cord-014712-5u4e00q6 991 23 Blood blood NN cord-014712-5u4e00q6 991 24 transfusions transfusion NNS cord-014712-5u4e00q6 991 25 . . . cord-014712-5u4e00q6 992 1 Dark dark JJ cord-014712-5u4e00q6 992 2 colored colored JJ cord-014712-5u4e00q6 992 3 urine urine NN cord-014712-5u4e00q6 992 4 occurred occur VBD cord-014712-5u4e00q6 992 5 in in IN cord-014712-5u4e00q6 992 6 frequent frequent JJ cord-014712-5u4e00q6 992 7 attacks attack NNS cord-014712-5u4e00q6 992 8 with with IN cord-014712-5u4e00q6 992 9 abdominal abdominal JJ cord-014712-5u4e00q6 992 10 enlargement enlargement NN cord-014712-5u4e00q6 992 11 and and CC cord-014712-5u4e00q6 992 12 pain pain NN cord-014712-5u4e00q6 992 13 , , , cord-014712-5u4e00q6 992 14 and and CC cord-014712-5u4e00q6 992 15 interestingly interestingly RB cord-014712-5u4e00q6 992 16 upto upto IN cord-014712-5u4e00q6 992 17 this this DT cord-014712-5u4e00q6 992 18 time time NN cord-014712-5u4e00q6 992 19 , , , cord-014712-5u4e00q6 992 20 no no DT cord-014712-5u4e00q6 992 21 improvement improvement NN cord-014712-5u4e00q6 992 22 regarding regard VBG cord-014712-5u4e00q6 992 23 fever fever NN cord-014712-5u4e00q6 992 24 , , , cord-014712-5u4e00q6 992 25 bone bone NN cord-014712-5u4e00q6 992 26 pain pain NN cord-014712-5u4e00q6 992 27 or or CC cord-014712-5u4e00q6 992 28 pallor pallor NN cord-014712-5u4e00q6 992 29 . . . cord-014712-5u4e00q6 993 1 On on IN cord-014712-5u4e00q6 993 2 examination examination NN cord-014712-5u4e00q6 993 3 she -PRON- PRP cord-014712-5u4e00q6 993 4 was be VBD cord-014712-5u4e00q6 993 5 Underbuilt Underbuilt NNP cord-014712-5u4e00q6 993 6 ( ( -LRB- cord-014712-5u4e00q6 993 7 all all DT cord-014712-5u4e00q6 993 8 parameters parameter NNS cord-014712-5u4e00q6 993 9 are be VBP cord-014712-5u4e00q6 993 10 under under IN cord-014712-5u4e00q6 993 11 3rd 3rd JJ cord-014712-5u4e00q6 993 12 centile centile NN cord-014712-5u4e00q6 993 13 ) ) -RRB- cord-014712-5u4e00q6 993 14 , , , cord-014712-5u4e00q6 993 15 pallor pallor NN cord-014712-5u4e00q6 993 16 , , , cord-014712-5u4e00q6 993 17 tinge tinge NN cord-014712-5u4e00q6 993 18 of of IN cord-014712-5u4e00q6 993 19 jaundice jaundice NN cord-014712-5u4e00q6 993 20 , , , cord-014712-5u4e00q6 993 21 generalized generalized JJ cord-014712-5u4e00q6 993 22 skin skin NN cord-014712-5u4e00q6 993 23 pigmentation pigmentation NN cord-014712-5u4e00q6 993 24 , , , cord-014712-5u4e00q6 993 25 generalized generalize VBN cord-014712-5u4e00q6 993 26 lymphadenopathy lymphadenopathy NN cord-014712-5u4e00q6 993 27 , , , cord-014712-5u4e00q6 993 28 2 2 CD cord-014712-5u4e00q6 993 29 nd nd NNP cord-014712-5u4e00q6 993 30 degree degree NN cord-014712-5u4e00q6 993 31 clubbing clubbing NN cord-014712-5u4e00q6 993 32 and and CC cord-014712-5u4e00q6 993 33 HSM HSM NNP cord-014712-5u4e00q6 993 34 Investigations Investigations NNPS cord-014712-5u4e00q6 993 35 : : : cord-014712-5u4e00q6 993 36 CBC CBC NNP cord-014712-5u4e00q6 993 37 ( ( -LRB- cord-014712-5u4e00q6 993 38 pancytopenia pancytopenia NNP cord-014712-5u4e00q6 993 39 with with IN cord-014712-5u4e00q6 993 40 reticulocytopenia reticulocytopenia NNP cord-014712-5u4e00q6 993 41 ) ) -RRB- cord-014712-5u4e00q6 993 42 -LFT -LFT . cord-014712-5u4e00q6 994 1 ( ( -LRB- cord-014712-5u4e00q6 994 2 increased increase VBN cord-014712-5u4e00q6 994 3 AST AST NNP cord-014712-5u4e00q6 994 4 with with IN cord-014712-5u4e00q6 994 5 indirect indirect JJ cord-014712-5u4e00q6 994 6 hyperbilirubinemia)-KFT hyperbilirubinemia)-KFT NNS cord-014712-5u4e00q6 994 7 ( ( -LRB- cord-014712-5u4e00q6 994 8 normal)-LDH normal)-LDH NNP cord-014712-5u4e00q6 994 9 ( ( -LRB- cord-014712-5u4e00q6 994 10 Highly highly RB cord-014712-5u4e00q6 994 11 elevated elevated JJ cord-014712-5u4e00q6 994 12 7238 7238 CD cord-014712-5u4e00q6 994 13 U U NNP cord-014712-5u4e00q6 994 14 / / SYM cord-014712-5u4e00q6 994 15 L)-ESR L)-ESR NNP cord-014712-5u4e00q6 994 16 ( ( -LRB- cord-014712-5u4e00q6 994 17 105 105 CD cord-014712-5u4e00q6 994 18 ) ) -RRB- cord-014712-5u4e00q6 995 1 -Fibrinogen -Fibrinogen . cord-014712-5u4e00q6 996 1 ( ( -LRB- cord-014712-5u4e00q6 996 2 0.336 0.336 CD cord-014712-5u4e00q6 996 3 gm/ gm/ NNP cord-014712-5u4e00q6 996 4 L)serum L)serum NNP cord-014712-5u4e00q6 996 5 triglycerides triglyceride NNS cord-014712-5u4e00q6 996 6 ( ( -LRB- cord-014712-5u4e00q6 996 7 315.7 315.7 CD cord-014712-5u4e00q6 996 8 mg mg NNP cord-014712-5u4e00q6 996 9 / / SYM cord-014712-5u4e00q6 996 10 dl)-EBV dl)-EBV NNP cord-014712-5u4e00q6 996 11 - - HYPH cord-014712-5u4e00q6 996 12 VCM VCM NNP cord-014712-5u4e00q6 996 13 IgM IgM NNP cord-014712-5u4e00q6 996 14 positive positive JJ cord-014712-5u4e00q6 996 15 and and CC cord-014712-5u4e00q6 996 16 IgG IgG NNP cord-014712-5u4e00q6 996 17 negative negative JJ cord-014712-5u4e00q6 996 18 -C3 -C3 : cord-014712-5u4e00q6 996 19 ( ( -LRB- cord-014712-5u4e00q6 996 20 1.3 1.3 CD cord-014712-5u4e00q6 996 21 normal normal JJ cord-014712-5u4e00q6 996 22 ) ) -RRB- cord-014712-5u4e00q6 996 23 -RF -RF : cord-014712-5u4e00q6 996 24 and and CC cord-014712-5u4e00q6 996 25 ANA(-ve ANA(-ve NNP cord-014712-5u4e00q6 996 26 ) ) -RRB- cord-014712-5u4e00q6 997 1 -Serum -Serum NNP cord-014712-5u4e00q6 998 1 ferritin ferritin NN cord-014712-5u4e00q6 998 2 ( ( -LRB- cord-014712-5u4e00q6 998 3 32436 32436 CD cord-014712-5u4e00q6 998 4 ng ng NN cord-014712-5u4e00q6 998 5 / / SYM cord-014712-5u4e00q6 998 6 ml ml NN cord-014712-5u4e00q6 998 7 ) ) -RRB- cord-014712-5u4e00q6 999 1 -CD -cd RB cord-014712-5u4e00q6 1000 1 56 56 CD cord-014712-5u4e00q6 1000 2 is be VBZ cord-014712-5u4e00q6 1001 1 low low JJ cord-014712-5u4e00q6 1001 2 -Bone -Bone NNP cord-014712-5u4e00q6 1001 3 marrow marrow NN cord-014712-5u4e00q6 1001 4 biobsy biobsy NN cord-014712-5u4e00q6 1001 5 revealed reveal VBD cord-014712-5u4e00q6 1001 6 dysplastic dysplastic JJ cord-014712-5u4e00q6 1001 7 changes change NNS cord-014712-5u4e00q6 1001 8 -L.N. -L.N. . cord-014712-5u4e00q6 1002 1 biopsy biopsy NNP cord-014712-5u4e00q6 1002 2 revealed reveal VBD cord-014712-5u4e00q6 1002 3 non non JJ cord-014712-5u4e00q6 1002 4 specific specific JJ cord-014712-5u4e00q6 1002 5 inflammatory inflammatory JJ cord-014712-5u4e00q6 1002 6 changes change NNS cord-014712-5u4e00q6 1002 7 . . . cord-014712-5u4e00q6 1003 1 Treatment treatment NN cord-014712-5u4e00q6 1003 2 : : : cord-014712-5u4e00q6 1003 3 HLH HLH NNP cord-014712-5u4e00q6 1003 4 protocol protocol NN cord-014712-5u4e00q6 1003 5 94 94 CD cord-014712-5u4e00q6 1003 6 with with IN cord-014712-5u4e00q6 1003 7 no no DT cord-014712-5u4e00q6 1003 8 SCT SCT NNP cord-014712-5u4e00q6 1003 9 Prognosis prognosis NN cord-014712-5u4e00q6 1003 10 : : : cord-014712-5u4e00q6 1004 1 patient patient NNP cord-014712-5u4e00q6 1004 2 passed pass VBD cord-014712-5u4e00q6 1004 3 initial initial JJ cord-014712-5u4e00q6 1004 4 phase phase NN cord-014712-5u4e00q6 1004 5 with with IN cord-014712-5u4e00q6 1004 6 complete complete JJ cord-014712-5u4e00q6 1004 7 resolution resolution NN cord-014712-5u4e00q6 1004 8 and and CC cord-014712-5u4e00q6 1004 9 waiting wait VBG cord-014712-5u4e00q6 1004 10 for for IN cord-014712-5u4e00q6 1004 11 BMT BMT NNP cord-014712-5u4e00q6 1004 12 CASE CASE NNP cord-014712-5u4e00q6 1004 13 2 2 CD cord-014712-5u4e00q6 1004 14 : : : cord-014712-5u4e00q6 1004 15 M M NNP cord-014712-5u4e00q6 1004 16 is be VBZ cord-014712-5u4e00q6 1004 17 4 4 CD cord-014712-5u4e00q6 1004 18 months month NNS cord-014712-5u4e00q6 1004 19 old old JJ cord-014712-5u4e00q6 1004 20 boy boy NN cord-014712-5u4e00q6 1004 21 , , , cord-014712-5u4e00q6 1004 22 2 2 CD cord-014712-5u4e00q6 1004 23 nd nd NNP cord-014712-5u4e00q6 1004 24 kid kid NN cord-014712-5u4e00q6 1004 25 of of IN cord-014712-5u4e00q6 1004 26 non non JJ cord-014712-5u4e00q6 1004 27 consanguineous consanguineous JJ cord-014712-5u4e00q6 1004 28 marriage marriage NN cord-014712-5u4e00q6 1005 1 ( ( -LRB- cord-014712-5u4e00q6 1005 2 the the DT cord-014712-5u4e00q6 1005 3 1 1 CD cord-014712-5u4e00q6 1005 4 st st NNP cord-014712-5u4e00q6 1005 5 is be VBZ cord-014712-5u4e00q6 1005 6 healthy healthy JJ cord-014712-5u4e00q6 1005 7 3 3 CD cord-014712-5u4e00q6 1005 8 years year NNS cord-014712-5u4e00q6 1005 9 old old JJ cord-014712-5u4e00q6 1005 10 female female NN cord-014712-5u4e00q6 1005 11 ) ) -RRB- cord-014712-5u4e00q6 1005 12 presented present VBN cord-014712-5u4e00q6 1005 13 with with IN cord-014712-5u4e00q6 1005 14 fever fever NN cord-014712-5u4e00q6 1005 15 and and CC cord-014712-5u4e00q6 1005 16 difficult difficult JJ cord-014712-5u4e00q6 1005 17 breathing breathing NN cord-014712-5u4e00q6 1005 18 since since IN cord-014712-5u4e00q6 1005 19 the the DT cord-014712-5u4e00q6 1005 20 age age NN cord-014712-5u4e00q6 1005 21 of of IN cord-014712-5u4e00q6 1005 22 2 2 CD cord-014712-5u4e00q6 1005 23 months month NNS cord-014712-5u4e00q6 1005 24 . . . cord-014712-5u4e00q6 1006 1 The the DT cord-014712-5u4e00q6 1006 2 fever fever NN cord-014712-5u4e00q6 1006 3 was be VBD cord-014712-5u4e00q6 1006 4 of of IN cord-014712-5u4e00q6 1006 5 gradual gradual JJ cord-014712-5u4e00q6 1006 6 onset onset NN cord-014712-5u4e00q6 1006 7 stationary stationary JJ cord-014712-5u4e00q6 1006 8 course course NN cord-014712-5u4e00q6 1006 9 and and CC cord-014712-5u4e00q6 1006 10 not not RB cord-014712-5u4e00q6 1006 11 responding respond VBG cord-014712-5u4e00q6 1006 12 to to IN cord-014712-5u4e00q6 1006 13 treatment treatment NN cord-014712-5u4e00q6 1006 14 with with IN cord-014712-5u4e00q6 1006 15 antipyretics antipyretic NNS cord-014712-5u4e00q6 1006 16 and and CC cord-014712-5u4e00q6 1006 17 antibiotics antibiotic NNS cord-014712-5u4e00q6 1006 18 . . . cord-014712-5u4e00q6 1007 1 One one CD cord-014712-5u4e00q6 1007 2 week week NN cord-014712-5u4e00q6 1007 3 later later RB cord-014712-5u4e00q6 1007 4 the the DT cord-014712-5u4e00q6 1007 5 mother mother NN cord-014712-5u4e00q6 1007 6 noticed notice VBD cord-014712-5u4e00q6 1007 7 abdominal abdominal JJ cord-014712-5u4e00q6 1007 8 enlargement enlargement NN cord-014712-5u4e00q6 1007 9 with with IN cord-014712-5u4e00q6 1007 10 red red JJ cord-014712-5u4e00q6 1007 11 rash rash NN cord-014712-5u4e00q6 1007 12 over over IN cord-014712-5u4e00q6 1007 13 the the DT cord-014712-5u4e00q6 1007 14 abdomen abdomen NN cord-014712-5u4e00q6 1007 15 that that WDT cord-014712-5u4e00q6 1007 16 was be VBD cord-014712-5u4e00q6 1007 17 associated associate VBN cord-014712-5u4e00q6 1007 18 with with IN cord-014712-5u4e00q6 1007 19 pallor pallor NN cord-014712-5u4e00q6 1007 20 but but CC cord-014712-5u4e00q6 1008 1 there there EX cord-014712-5u4e00q6 1008 2 was be VBD cord-014712-5u4e00q6 1008 3 no no DT cord-014712-5u4e00q6 1008 4 evidence evidence NN cord-014712-5u4e00q6 1008 5 of of IN cord-014712-5u4e00q6 1008 6 bleeding bleed VBG cord-014712-5u4e00q6 1008 7 from from IN cord-014712-5u4e00q6 1008 8 any any DT cord-014712-5u4e00q6 1008 9 site site NN cord-014712-5u4e00q6 1008 10 , , , cord-014712-5u4e00q6 1008 11 no no DT cord-014712-5u4e00q6 1008 12 change change NN cord-014712-5u4e00q6 1008 13 in in IN cord-014712-5u4e00q6 1008 14 the the DT cord-014712-5u4e00q6 1008 15 color color NN cord-014712-5u4e00q6 1008 16 of of IN cord-014712-5u4e00q6 1008 17 urine urine NN cord-014712-5u4e00q6 1008 18 , , , cord-014712-5u4e00q6 1008 19 no no DT cord-014712-5u4e00q6 1008 20 jaundice jaundice NN cord-014712-5u4e00q6 1008 21 , , , cord-014712-5u4e00q6 1008 22 no no DT cord-014712-5u4e00q6 1008 23 ecchymosis ecchymosis NN cord-014712-5u4e00q6 1008 24 , , , cord-014712-5u4e00q6 1008 25 no no DT cord-014712-5u4e00q6 1008 26 joint joint JJ cord-014712-5u4e00q6 1008 27 swelling swelling NN cord-014712-5u4e00q6 1008 28 then then RB cord-014712-5u4e00q6 1008 29 he -PRON- PRP cord-014712-5u4e00q6 1008 30 is be VBZ cord-014712-5u4e00q6 1008 31 referred refer VBN cord-014712-5u4e00q6 1008 32 to to IN cord-014712-5u4e00q6 1008 33 our -PRON- PRP$ cord-014712-5u4e00q6 1008 34 hospital hospital NN cord-014712-5u4e00q6 1008 35 ( ( -LRB- cord-014712-5u4e00q6 1008 36 Zagazig Zagazig NNP cord-014712-5u4e00q6 1008 37 University University NNP cord-014712-5u4e00q6 1008 38 Hospital Hospital NNP cord-014712-5u4e00q6 1008 39 ) ) -RRB- cord-014712-5u4e00q6 1008 40 . . . cord-014712-5u4e00q6 1009 1 This this DT cord-014712-5u4e00q6 1009 2 boy boy NN cord-014712-5u4e00q6 1009 3 is be VBZ cord-014712-5u4e00q6 1009 4 delivered deliver VBN cord-014712-5u4e00q6 1009 5 by by IN cord-014712-5u4e00q6 1009 6 NVD NVD NNP cord-014712-5u4e00q6 1009 7 at at IN cord-014712-5u4e00q6 1009 8 term term NN cord-014712-5u4e00q6 1009 9 with with IN cord-014712-5u4e00q6 1009 10 no no DT cord-014712-5u4e00q6 1009 11 evidence evidence NN cord-014712-5u4e00q6 1009 12 of of IN cord-014712-5u4e00q6 1009 13 any any DT cord-014712-5u4e00q6 1009 14 problem problem NN cord-014712-5u4e00q6 1009 15 either either CC cord-014712-5u4e00q6 1009 16 during during IN cord-014712-5u4e00q6 1009 17 pregnancy pregnancy NN cord-014712-5u4e00q6 1009 18 or or CC cord-014712-5u4e00q6 1009 19 delivery delivery NN cord-014712-5u4e00q6 1009 20 , , , cord-014712-5u4e00q6 1009 21 he -PRON- PRP cord-014712-5u4e00q6 1009 22 is be VBZ cord-014712-5u4e00q6 1009 23 exclusively exclusively RB cord-014712-5u4e00q6 1009 24 breast breast NN cord-014712-5u4e00q6 1009 25 fed feed VBN cord-014712-5u4e00q6 1009 26 and and CC cord-014712-5u4e00q6 1009 27 vaccinated vaccinate VBD cord-014712-5u4e00q6 1009 28 as as IN cord-014712-5u4e00q6 1009 29 scheduled schedule VBN cord-014712-5u4e00q6 1009 30 . . . cord-014712-5u4e00q6 1010 1 Examination examination NN cord-014712-5u4e00q6 1010 2 : : : cord-014712-5u4e00q6 1010 3 his -PRON- PRP$ cord-014712-5u4e00q6 1010 4 weight weight NN cord-014712-5u4e00q6 1010 5 was be VBD cord-014712-5u4e00q6 1010 6 6 6 CD cord-014712-5u4e00q6 1010 7 kg kg NNS cord-014712-5u4e00q6 1010 8 , , , cord-014712-5u4e00q6 1010 9 length length NN cord-014712-5u4e00q6 1010 10 53 53 CD cord-014712-5u4e00q6 1010 11 cm cm NNS cord-014712-5u4e00q6 1010 12 , , , cord-014712-5u4e00q6 1010 13 and and CC cord-014712-5u4e00q6 1010 14 head head VB cord-014712-5u4e00q6 1010 15 circumference circumference NN cord-014712-5u4e00q6 1010 16 35 35 CD cord-014712-5u4e00q6 1010 17 cm cm NNS cord-014712-5u4e00q6 1010 18 all all DT cord-014712-5u4e00q6 1010 19 are be VBP cord-014712-5u4e00q6 1010 20 average average JJ cord-014712-5u4e00q6 1010 21 for for IN cord-014712-5u4e00q6 1010 22 age age NN cord-014712-5u4e00q6 1010 23 , , , cord-014712-5u4e00q6 1010 24 he -PRON- PRP cord-014712-5u4e00q6 1010 25 was be VBD cord-014712-5u4e00q6 1010 26 pale pale JJ cord-014712-5u4e00q6 1010 27 with with IN cord-014712-5u4e00q6 1010 28 no no DT cord-014712-5u4e00q6 1010 29 jaundice jaundice NN cord-014712-5u4e00q6 1010 30 or or CC cord-014712-5u4e00q6 1010 31 cyanosis cyanosis NN cord-014712-5u4e00q6 1011 1 he -PRON- PRP cord-014712-5u4e00q6 1011 2 had have VBD cord-014712-5u4e00q6 1011 3 HSM HSM NNP cord-014712-5u4e00q6 1011 4 and and CC cord-014712-5u4e00q6 1011 5 other other JJ cord-014712-5u4e00q6 1011 6 systemic systemic JJ cord-014712-5u4e00q6 1011 7 examination examination NN cord-014712-5u4e00q6 1011 8 was be VBD cord-014712-5u4e00q6 1011 9 quite quite RB cord-014712-5u4e00q6 1011 10 well well RB cord-014712-5u4e00q6 1011 11 . . . cord-014712-5u4e00q6 1012 1 Children child NNS cord-014712-5u4e00q6 1012 2 with with IN cord-014712-5u4e00q6 1012 3 PID PID NNP cord-014712-5u4e00q6 1012 4 usually usually RB cord-014712-5u4e00q6 1012 5 are be VBP cord-014712-5u4e00q6 1012 6 admitting admit VBG cord-014712-5u4e00q6 1012 7 to to IN cord-014712-5u4e00q6 1012 8 the the DT cord-014712-5u4e00q6 1012 9 hospitals hospital NNS cord-014712-5u4e00q6 1012 10 and and CC cord-014712-5u4e00q6 1012 11 intensive intensive JJ cord-014712-5u4e00q6 1012 12 care care NN cord-014712-5u4e00q6 1012 13 units unit NNS cord-014712-5u4e00q6 1012 14 of of IN cord-014712-5u4e00q6 1012 15 infants infant NNS cord-014712-5u4e00q6 1012 16 ' ' POS cord-014712-5u4e00q6 1012 17 pathology pathology NN cord-014712-5u4e00q6 1012 18 Regional Regional NNP cord-014712-5u4e00q6 1012 19 Children Children NNP cord-014712-5u4e00q6 1012 20 Clinical Clinical NNP cord-014712-5u4e00q6 1012 21 Hospital Hospital NNP cord-014712-5u4e00q6 1012 22 № № NNP cord-014712-5u4e00q6 1012 23 1 1 CD cord-014712-5u4e00q6 1012 24 , , , cord-014712-5u4e00q6 1012 25 but but CC cord-014712-5u4e00q6 1012 26 at at IN cord-014712-5u4e00q6 1012 27 a a DT cord-014712-5u4e00q6 1012 28 later later JJ cord-014712-5u4e00q6 1012 29 date date NN cord-014712-5u4e00q6 1012 30 , , , cord-014712-5u4e00q6 1012 31 in in IN cord-014712-5u4e00q6 1012 32 serious serious JJ cord-014712-5u4e00q6 1012 33 condition condition NN cord-014712-5u4e00q6 1012 34 , , , cord-014712-5u4e00q6 1012 35 after after IN cord-014712-5u4e00q6 1012 36 the the DT cord-014712-5u4e00q6 1012 37 development development NN cord-014712-5u4e00q6 1012 38 of of IN cord-014712-5u4e00q6 1012 39 clinical clinical JJ cord-014712-5u4e00q6 1012 40 manifestations manifestation NNS cord-014712-5u4e00q6 1012 41 in in IN cord-014712-5u4e00q6 1012 42 the the DT cord-014712-5u4e00q6 1012 43 form form NN cord-014712-5u4e00q6 1012 44 of of IN cord-014712-5u4e00q6 1012 45 severe severe JJ cord-014712-5u4e00q6 1012 46 generalized generalized JJ cord-014712-5u4e00q6 1012 47 infectious infectious JJ cord-014712-5u4e00q6 1012 48 disease disease NN cord-014712-5u4e00q6 1012 49 , , , cord-014712-5u4e00q6 1012 50 or or CC cord-014712-5u4e00q6 1012 51 various various JJ cord-014712-5u4e00q6 1012 52 complications complication NNS cord-014712-5u4e00q6 1012 53 including include VBG cord-014712-5u4e00q6 1012 54 hematological hematological JJ cord-014712-5u4e00q6 1012 55 . . . cord-014712-5u4e00q6 1013 1 The the DT cord-014712-5u4e00q6 1013 2 screening screening NN cord-014712-5u4e00q6 1013 3 technology technology NN cord-014712-5u4e00q6 1013 4 approves approve VBZ cord-014712-5u4e00q6 1013 5 children child NNS cord-014712-5u4e00q6 1013 6 to to TO cord-014712-5u4e00q6 1013 7 be be VB cord-014712-5u4e00q6 1013 8 diagnosed diagnose VBN cord-014712-5u4e00q6 1013 9 in in IN cord-014712-5u4e00q6 1013 10 newborn newborn JJ cord-014712-5u4e00q6 1013 11 period period NN cord-014712-5u4e00q6 1013 12 and and CC cord-014712-5u4e00q6 1013 13 to to TO cord-014712-5u4e00q6 1013 14 be be VB cord-014712-5u4e00q6 1013 15 observing observe VBG cord-014712-5u4e00q6 1013 16 by by IN cord-014712-5u4e00q6 1013 17 immunologist immunologist NN cord-014712-5u4e00q6 1013 18 and and CC cord-014712-5u4e00q6 1013 19 hematologist hematologist NN cord-014712-5u4e00q6 1013 20 for for IN cord-014712-5u4e00q6 1013 21 the the DT cord-014712-5u4e00q6 1013 22 next next JJ cord-014712-5u4e00q6 1013 23 preventative preventative JJ cord-014712-5u4e00q6 1013 24 therapy therapy NN cord-014712-5u4e00q6 1013 25 and and CC cord-014712-5u4e00q6 1013 26 bone bone NN cord-014712-5u4e00q6 1013 27 marrow marrow NN cord-014712-5u4e00q6 1013 28 transplantation transplantation NN cord-014712-5u4e00q6 1013 29 or or CC cord-014712-5u4e00q6 1013 30 hematopoietic hematopoietic JJ cord-014712-5u4e00q6 1013 31 stem stem NN cord-014712-5u4e00q6 1013 32 cell cell NN cord-014712-5u4e00q6 1013 33 transplantation transplantation NN cord-014712-5u4e00q6 1013 34 . . . cord-014712-5u4e00q6 1014 1 Costs cost NNS cord-014712-5u4e00q6 1014 2 for for IN cord-014712-5u4e00q6 1014 3 the the DT cord-014712-5u4e00q6 1014 4 differential differential JJ cord-014712-5u4e00q6 1014 5 diagnosis diagnosis NN cord-014712-5u4e00q6 1014 6 and and CC cord-014712-5u4e00q6 1014 7 verification verification NN cord-014712-5u4e00q6 1014 8 of of IN cord-014712-5u4e00q6 1014 9 the the DT cord-014712-5u4e00q6 1014 10 diagnosis diagnosis NN cord-014712-5u4e00q6 1014 11 before before IN cord-014712-5u4e00q6 1014 12 the the DT cord-014712-5u4e00q6 1014 13 manifestation manifestation NN cord-014712-5u4e00q6 1014 14 and and CC cord-014712-5u4e00q6 1014 15 complications complication NNS cord-014712-5u4e00q6 1014 16 development development NN cord-014712-5u4e00q6 1014 17 of of IN cord-014712-5u4e00q6 1014 18 PID PID NNP cord-014712-5u4e00q6 1015 1 -51 -51 NN cord-014712-5u4e00q6 1015 2 245 245 CD cord-014712-5u4e00q6 1015 3 USD usd NN cord-014712-5u4e00q6 1015 4 . . . cord-014712-5u4e00q6 1016 1 Costs cost NNS cord-014712-5u4e00q6 1016 2 for for IN cord-014712-5u4e00q6 1016 3 the the DT cord-014712-5u4e00q6 1016 4 differential differential JJ cord-014712-5u4e00q6 1016 5 diagnosis diagnosis NN cord-014712-5u4e00q6 1016 6 and and CC cord-014712-5u4e00q6 1016 7 verification verification NN cord-014712-5u4e00q6 1016 8 of of IN cord-014712-5u4e00q6 1016 9 diagnosis diagnosis NN cord-014712-5u4e00q6 1016 10 after after IN cord-014712-5u4e00q6 1016 11 manifestation manifestation NN cord-014712-5u4e00q6 1016 12 and and CC cord-014712-5u4e00q6 1016 13 complications complication NNS cord-014712-5u4e00q6 1016 14 development development NN cord-014712-5u4e00q6 1016 15 of of IN cord-014712-5u4e00q6 1016 16 PID PID NNP cord-014712-5u4e00q6 1016 17 would would MD cord-014712-5u4e00q6 1016 18 be be VB cord-014712-5u4e00q6 1016 19 115 115 CD cord-014712-5u4e00q6 1016 20 208 208 CD cord-014712-5u4e00q6 1016 21 USD usd NN cord-014712-5u4e00q6 1016 22 in in IN cord-014712-5u4e00q6 1016 23 2 2 CD cord-014712-5u4e00q6 1016 24 months month NNS cord-014712-5u4e00q6 1016 25 . . . cord-014712-5u4e00q6 1017 1 Economic economic JJ cord-014712-5u4e00q6 1017 2 loss loss NN cord-014712-5u4e00q6 1017 3 prevention prevention NN cord-014712-5u4e00q6 1017 4 in in IN cord-014712-5u4e00q6 1017 5 PID PID NNP cord-014712-5u4e00q6 1017 6 -63 -63 NNP cord-014712-5u4e00q6 1017 7 872 872 CD cord-014712-5u4e00q6 1017 8 USD usd NN cord-014712-5u4e00q6 1017 9 . . . cord-014712-5u4e00q6 1018 1 Economic economic JJ cord-014712-5u4e00q6 1018 2 loss loss NN cord-014712-5u4e00q6 1018 3 prevention prevention NN cord-014712-5u4e00q6 1018 4 in in IN cord-014712-5u4e00q6 1018 5 T T NNP cord-014712-5u4e00q6 1018 6 -lymphopenia -lymphopenia NN cord-014712-5u4e00q6 1018 7 -105 -105 NN cord-014712-5u4e00q6 1018 8 884 884 CD cord-014712-5u4e00q6 1018 9 USD usd NN cord-014712-5u4e00q6 1018 10 . . . cord-014712-5u4e00q6 1019 1 We -PRON- PRP cord-014712-5u4e00q6 1019 2 also also RB cord-014712-5u4e00q6 1019 3 should should MD cord-014712-5u4e00q6 1019 4 include include VB cord-014712-5u4e00q6 1019 5 into into IN cord-014712-5u4e00q6 1019 6 account account NN cord-014712-5u4e00q6 1019 7 the the DT cord-014712-5u4e00q6 1019 8 contribution contribution NN cord-014712-5u4e00q6 1019 9 to to IN cord-014712-5u4e00q6 1019 10 the the DT cord-014712-5u4e00q6 1019 11 state state NN cord-014712-5u4e00q6 1019 12 's 's POS cord-014712-5u4e00q6 1019 13 economy economy NN cord-014712-5u4e00q6 1019 14 , , , cord-014712-5u4e00q6 1019 15 which which WDT cord-014712-5u4e00q6 1019 16 will will MD cord-014712-5u4e00q6 1019 17 later later RB cord-014712-5u4e00q6 1019 18 be be VB cord-014712-5u4e00q6 1019 19 obtained obtain VBN cord-014712-5u4e00q6 1019 20 , , , cord-014712-5u4e00q6 1019 21 due due IN cord-014712-5u4e00q6 1019 22 to to IN cord-014712-5u4e00q6 1019 23 the the DT cord-014712-5u4e00q6 1019 24 presence presence NN cord-014712-5u4e00q6 1019 25 of of IN cord-014712-5u4e00q6 1019 26 a a DT cord-014712-5u4e00q6 1019 27 healthy healthy JJ cord-014712-5u4e00q6 1019 28 member member NN cord-014712-5u4e00q6 1019 29 of of IN cord-014712-5u4e00q6 1019 30 society society NN cord-014712-5u4e00q6 1019 31 . . . cord-014712-5u4e00q6 1020 1 AT at IN cord-014712-5u4e00q6 1020 2 is be VBZ cord-014712-5u4e00q6 1020 3 an an DT cord-014712-5u4e00q6 1020 4 autosomal autosomal JJ cord-014712-5u4e00q6 1020 5 recessive recessive JJ cord-014712-5u4e00q6 1020 6 multisystem multisystem JJ cord-014712-5u4e00q6 1020 7 disorder disorder NN cord-014712-5u4e00q6 1020 8 characterized characterize VBN cord-014712-5u4e00q6 1020 9 by by IN cord-014712-5u4e00q6 1020 10 progressive progressive JJ cord-014712-5u4e00q6 1020 11 cerebellar cerebellar JJ cord-014712-5u4e00q6 1020 12 ataxia ataxia NN cord-014712-5u4e00q6 1020 13 , , , cord-014712-5u4e00q6 1020 14 telangiectasia telangiectasia NN cord-014712-5u4e00q6 1020 15 and and CC cord-014712-5u4e00q6 1020 16 increased increase VBN cord-014712-5u4e00q6 1020 17 susceptibility susceptibility NN cord-014712-5u4e00q6 1020 18 to to IN cord-014712-5u4e00q6 1020 19 infections infection NNS cord-014712-5u4e00q6 1020 20 and and CC cord-014712-5u4e00q6 1020 21 malignancies malignancy NNS cord-014712-5u4e00q6 1020 22 , , , cord-014712-5u4e00q6 1020 23 particularly particularly RB cord-014712-5u4e00q6 1020 24 lymphomas lymphoma NNS cord-014712-5u4e00q6 1020 25 and and CC cord-014712-5u4e00q6 1020 26 leukemia leukemia NN cord-014712-5u4e00q6 1020 27 . . . cord-014712-5u4e00q6 1021 1 Laboratory laboratory NN cord-014712-5u4e00q6 1021 2 immune immune JJ cord-014712-5u4e00q6 1021 3 investigations investigation NNS cord-014712-5u4e00q6 1021 4 typically typically RB cord-014712-5u4e00q6 1021 5 show show VBP cord-014712-5u4e00q6 1021 6 decreased decrease VBD cord-014712-5u4e00q6 1021 7 peripheral peripheral JJ cord-014712-5u4e00q6 1021 8 Tcells Tcells NNP cord-014712-5u4e00q6 1021 9 , , , cord-014712-5u4e00q6 1021 10 particularly particularly RB cord-014712-5u4e00q6 1021 11 of of IN cord-014712-5u4e00q6 1021 12 naïve naïve JJ cord-014712-5u4e00q6 1021 13 T t NN cord-014712-5u4e00q6 1021 14 cells cell NNS cord-014712-5u4e00q6 1021 15 , , , cord-014712-5u4e00q6 1021 16 with with IN cord-014712-5u4e00q6 1021 17 abnormal abnormal JJ cord-014712-5u4e00q6 1021 18 in in IN cord-014712-5u4e00q6 1021 19 vitro vitro FW cord-014712-5u4e00q6 1021 20 response response NN cord-014712-5u4e00q6 1021 21 to to IN cord-014712-5u4e00q6 1021 22 mitogens mitogens NNP cord-014712-5u4e00q6 1021 23 . . . cord-014712-5u4e00q6 1022 1 Most Most JJS cord-014712-5u4e00q6 1022 2 AT at IN cord-014712-5u4e00q6 1022 3 patients patient NNS cord-014712-5u4e00q6 1022 4 have have VBP cord-014712-5u4e00q6 1022 5 decreased decrease VBN cord-014712-5u4e00q6 1022 6 serum serum NN cord-014712-5u4e00q6 1022 7 IgA IgA NNP cord-014712-5u4e00q6 1022 8 and and CC cord-014712-5u4e00q6 1022 9 IgG IgG NNP cord-014712-5u4e00q6 1022 10 subclass subclass NN cord-014712-5u4e00q6 1022 11 concentrations concentration NNS cord-014712-5u4e00q6 1022 12 . . . cord-014712-5u4e00q6 1023 1 While while IN cord-014712-5u4e00q6 1023 2 about about RB cord-014712-5u4e00q6 1023 3 10 10 CD cord-014712-5u4e00q6 1023 4 % % NN cord-014712-5u4e00q6 1023 5 of of IN cord-014712-5u4e00q6 1023 6 patients patient NNS cord-014712-5u4e00q6 1023 7 with with IN cord-014712-5u4e00q6 1023 8 AT AT NNP cord-014712-5u4e00q6 1023 9 show show NN cord-014712-5u4e00q6 1023 10 raised raise VBD cord-014712-5u4e00q6 1023 11 serum serum NN cord-014712-5u4e00q6 1023 12 IgM IgM NNP cord-014712-5u4e00q6 1023 13 concentrations concentration NNS cord-014712-5u4e00q6 1023 14 during during IN cord-014712-5u4e00q6 1023 15 the the DT cord-014712-5u4e00q6 1023 16 course course NN cord-014712-5u4e00q6 1023 17 of of IN cord-014712-5u4e00q6 1023 18 the the DT cord-014712-5u4e00q6 1023 19 disease disease NN cord-014712-5u4e00q6 1023 20 , , , cord-014712-5u4e00q6 1023 21 it -PRON- PRP cord-014712-5u4e00q6 1023 22 is be VBZ cord-014712-5u4e00q6 1023 23 unusual unusual JJ cord-014712-5u4e00q6 1023 24 to to TO cord-014712-5u4e00q6 1023 25 find find VB cord-014712-5u4e00q6 1023 26 a a DT cord-014712-5u4e00q6 1023 27 high high JJ cord-014712-5u4e00q6 1023 28 level level NN cord-014712-5u4e00q6 1023 29 of of IN cord-014712-5u4e00q6 1023 30 IgM IgM NNP cord-014712-5u4e00q6 1023 31 at at IN cord-014712-5u4e00q6 1023 32 onset onset NN cord-014712-5u4e00q6 1023 33 . . . cord-014712-5u4e00q6 1024 1 As as IN cord-014712-5u4e00q6 1024 2 cerebellar cerebellar JJ cord-014712-5u4e00q6 1024 3 ataxia ataxia NN cord-014712-5u4e00q6 1024 4 and and CC cord-014712-5u4e00q6 1024 5 oculocutaneous oculocutaneous JJ cord-014712-5u4e00q6 1024 6 telangiectasia telangiectasia NNP cord-014712-5u4e00q6 1024 7 are be VBP cord-014712-5u4e00q6 1024 8 not not RB cord-014712-5u4e00q6 1024 9 present present JJ cord-014712-5u4e00q6 1024 10 at at IN cord-014712-5u4e00q6 1024 11 very very RB cord-014712-5u4e00q6 1024 12 young young JJ cord-014712-5u4e00q6 1024 13 age age NN cord-014712-5u4e00q6 1024 14 , , , cord-014712-5u4e00q6 1024 15 these these DT cord-014712-5u4e00q6 1024 16 patients patient NNS cord-014712-5u4e00q6 1024 17 are be VBP cord-014712-5u4e00q6 1024 18 often often RB cord-014712-5u4e00q6 1024 19 erroneously erroneously RB cord-014712-5u4e00q6 1024 20 diagnosed diagnose VBN cord-014712-5u4e00q6 1024 21 as as IN cord-014712-5u4e00q6 1024 22 hyper hyper JJ cord-014712-5u4e00q6 1024 23 IgM IgM NNP cord-014712-5u4e00q6 1024 24 syndrome syndrome NN cord-014712-5u4e00q6 1024 25 ( ( -LRB- cord-014712-5u4e00q6 1024 26 HIGM HIGM NNP cord-014712-5u4e00q6 1024 27 ) ) -RRB- cord-014712-5u4e00q6 1024 28 . . . cord-014712-5u4e00q6 1025 1 To to TO cord-014712-5u4e00q6 1025 2 prevent prevent VB cord-014712-5u4e00q6 1025 3 mistaking mistake VBG cord-014712-5u4e00q6 1025 4 A a DT cord-014712-5u4e00q6 1025 5 - - HYPH cord-014712-5u4e00q6 1025 6 T t NN cord-014712-5u4e00q6 1025 7 patients patient NNS cord-014712-5u4e00q6 1025 8 for for IN cord-014712-5u4e00q6 1025 9 HIGM HIGM NNP cord-014712-5u4e00q6 1026 1 it -PRON- PRP cord-014712-5u4e00q6 1026 2 is be VBZ cord-014712-5u4e00q6 1026 3 proposed propose VBN cord-014712-5u4e00q6 1026 4 to to TO cord-014712-5u4e00q6 1026 5 add add VB cord-014712-5u4e00q6 1026 6 DNA dna NN cord-014712-5u4e00q6 1026 7 repair repair NN cord-014712-5u4e00q6 1026 8 disorders disorder NNS cord-014712-5u4e00q6 1026 9 as as IN cord-014712-5u4e00q6 1026 10 a a DT cord-014712-5u4e00q6 1026 11 possible possible JJ cord-014712-5u4e00q6 1026 12 cause cause NN cord-014712-5u4e00q6 1026 13 of of IN cord-014712-5u4e00q6 1026 14 HIGM HIGM NNP cord-014712-5u4e00q6 1026 15 . . . cord-014712-5u4e00q6 1026 16 . . . cord-014712-5u4e00q6 1027 1 Diagnosis diagnosis NN cord-014712-5u4e00q6 1027 2 of of IN cord-014712-5u4e00q6 1027 3 AT AT NNP cord-014712-5u4e00q6 1027 4 , , , cord-014712-5u4e00q6 1027 5 suggested suggest VBN cord-014712-5u4e00q6 1027 6 by by IN cord-014712-5u4e00q6 1027 7 elevated elevate VBN cord-014712-5u4e00q6 1027 8 alfa alfa NNP cord-014712-5u4e00q6 1027 9 - - HYPH cord-014712-5u4e00q6 1027 10 feto feto NNP cord-014712-5u4e00q6 1027 11 - - HYPH cord-014712-5u4e00q6 1027 12 protein protein NN cord-014712-5u4e00q6 1027 13 and and CC cord-014712-5u4e00q6 1027 14 increased increased JJ cord-014712-5u4e00q6 1027 15 sensitivity sensitivity NN cord-014712-5u4e00q6 1027 16 of of IN cord-014712-5u4e00q6 1027 17 patients patient NNS cord-014712-5u4e00q6 1027 18 ' ' POS cord-014712-5u4e00q6 1027 19 cells cell NNS cord-014712-5u4e00q6 1027 20 to to IN cord-014712-5u4e00q6 1027 21 irradiation irradiation NN cord-014712-5u4e00q6 1027 22 , , , cord-014712-5u4e00q6 1027 23 can can MD cord-014712-5u4e00q6 1027 24 be be VB cord-014712-5u4e00q6 1027 25 confirmed confirm VBN cord-014712-5u4e00q6 1027 26 by by IN cord-014712-5u4e00q6 1027 27 identifying identify VBG cord-014712-5u4e00q6 1027 28 a a DT cord-014712-5u4e00q6 1027 29 mutation mutation NN cord-014712-5u4e00q6 1027 30 in in IN cord-014712-5u4e00q6 1027 31 the the DT cord-014712-5u4e00q6 1027 32 ATM atm NN cord-014712-5u4e00q6 1027 33 gene gene NN cord-014712-5u4e00q6 1027 34 . . . cord-014712-5u4e00q6 1028 1 We -PRON- PRP cord-014712-5u4e00q6 1028 2 report report VBP cord-014712-5u4e00q6 1028 3 3 3 CD cord-014712-5u4e00q6 1028 4 female female JJ cord-014712-5u4e00q6 1028 5 case case NN cord-014712-5u4e00q6 1028 6 of of IN cord-014712-5u4e00q6 1028 7 AT at IN cord-014712-5u4e00q6 1028 8 that that DT cord-014712-5u4e00q6 1028 9 with with IN cord-014712-5u4e00q6 1028 10 diagnosis diagnosis NN cord-014712-5u4e00q6 1028 11 of of IN cord-014712-5u4e00q6 1028 12 hyper hyper JJ cord-014712-5u4e00q6 1028 13 IGM IGM NNP cord-014712-5u4e00q6 1028 14 received receive VBD cord-014712-5u4e00q6 1028 15 IVIG IVIG NNP cord-014712-5u4e00q6 1028 16 but but CC cord-014712-5u4e00q6 1028 17 later later RBR cord-014712-5u4e00q6 1028 18 they -PRON- PRP cord-014712-5u4e00q6 1028 19 had have VBD cord-014712-5u4e00q6 1028 20 manifestation manifestation NN cord-014712-5u4e00q6 1028 21 of of IN cord-014712-5u4e00q6 1028 22 ataxia ataxia NN cord-014712-5u4e00q6 1028 23 in in IN cord-014712-5u4e00q6 1028 24 the the DT cord-014712-5u4e00q6 1028 25 course course NN cord-014712-5u4e00q6 1028 26 of of IN cord-014712-5u4e00q6 1028 27 their -PRON- PRP$ cord-014712-5u4e00q6 1028 28 disease disease NN cord-014712-5u4e00q6 1028 29 and and CC cord-014712-5u4e00q6 1028 30 then then RB cord-014712-5u4e00q6 1028 31 had have VBD cord-014712-5u4e00q6 1028 32 telangiectasia telangiectasia NNS cord-014712-5u4e00q6 1028 33 of of IN cord-014712-5u4e00q6 1028 34 conjunctiva conjunctiva NN cord-014712-5u4e00q6 1028 35 . . . cord-014712-5u4e00q6 1029 1 First first JJ cord-014712-5u4e00q6 1029 2 case case NN cord-014712-5u4e00q6 1029 3 was be VBD cord-014712-5u4e00q6 1029 4 a a DT cord-014712-5u4e00q6 1029 5 3 3 CD cord-014712-5u4e00q6 1029 6 yrs yrs NN cord-014712-5u4e00q6 1029 7 girl girl NN cord-014712-5u4e00q6 1029 8 that that WDT cord-014712-5u4e00q6 1029 9 was be VBD cord-014712-5u4e00q6 1029 10 suffered suffer VBN cord-014712-5u4e00q6 1029 11 from from IN cord-014712-5u4e00q6 1029 12 ITP ITP NNP cord-014712-5u4e00q6 1029 13 and and CC cord-014712-5u4e00q6 1029 14 granulomatosis granulomatosis NNP cord-014712-5u4e00q6 1029 15 lesion lesion NN cord-014712-5u4e00q6 1029 16 of of IN cord-014712-5u4e00q6 1029 17 skin skin NN cord-014712-5u4e00q6 1029 18 associated associate VBN cord-014712-5u4e00q6 1029 19 with with IN cord-014712-5u4e00q6 1029 20 Hyper hyper JJ cord-014712-5u4e00q6 1029 21 IgM igm NN cord-014712-5u4e00q6 1029 22 before before IN cord-014712-5u4e00q6 1029 23 AT at IN cord-014712-5u4e00q6 1029 24 diagnosis diagnosis NN cord-014712-5u4e00q6 1029 25 . . . cord-014712-5u4e00q6 1030 1 Second second JJ cord-014712-5u4e00q6 1030 2 case case NN cord-014712-5u4e00q6 1030 3 was be VBD cord-014712-5u4e00q6 1030 4 a a DT cord-014712-5u4e00q6 1030 5 6 6 CD cord-014712-5u4e00q6 1030 6 years year NNS cord-014712-5u4e00q6 1030 7 old old JJ cord-014712-5u4e00q6 1030 8 girl girl NN cord-014712-5u4e00q6 1030 9 with with IN cord-014712-5u4e00q6 1030 10 microcephaly microcephaly NNS cord-014712-5u4e00q6 1030 11 , , , cord-014712-5u4e00q6 1030 12 sever sever VB cord-014712-5u4e00q6 1030 13 FTT FTT NNP cord-014712-5u4e00q6 1030 14 , , , cord-014712-5u4e00q6 1030 15 neurodevelopmental neurodevelopmental JJ cord-014712-5u4e00q6 1030 16 delay delay NN cord-014712-5u4e00q6 1030 17 , , , cord-014712-5u4e00q6 1030 18 abnormal abnormal JJ cord-014712-5u4e00q6 1030 19 faces face NNS cord-014712-5u4e00q6 1030 20 and and CC cord-014712-5u4e00q6 1030 21 hypo hypo NN cord-014712-5u4e00q6 1030 22 and and CC cord-014712-5u4e00q6 1030 23 hyperpigmentation hyperpigmentation NN cord-014712-5u4e00q6 1030 24 lesions lesion NNS cord-014712-5u4e00q6 1030 25 and and CC cord-014712-5u4e00q6 1030 26 anemia anemia NN cord-014712-5u4e00q6 1030 27 . . . cord-014712-5u4e00q6 1031 1 With with IN cord-014712-5u4e00q6 1031 2 respect respect NN cord-014712-5u4e00q6 1031 3 to to IN cord-014712-5u4e00q6 1031 4 these these DT cord-014712-5u4e00q6 1031 5 manifestation manifestation NN cord-014712-5u4e00q6 1031 6 and and CC cord-014712-5u4e00q6 1031 7 increased increase VBN cord-014712-5u4e00q6 1031 8 AFP AFP NNP cord-014712-5u4e00q6 1031 9 , , , cord-014712-5u4e00q6 1031 10 Nijmegan Nijmegan NNP cord-014712-5u4e00q6 1031 11 breakage breakage NN cord-014712-5u4e00q6 1031 12 syndrome syndrome NN cord-014712-5u4e00q6 1031 13 was be VBD cord-014712-5u4e00q6 1031 14 suggested suggest VBN cord-014712-5u4e00q6 1031 15 . . . cord-014712-5u4e00q6 1032 1 Third third JJ cord-014712-5u4e00q6 1032 2 case case NN cord-014712-5u4e00q6 1032 3 was be VBD cord-014712-5u4e00q6 1032 4 suffered suffer VBN cord-014712-5u4e00q6 1032 5 from from IN cord-014712-5u4e00q6 1032 6 HyperIgM HyperIgM NNP cord-014712-5u4e00q6 1032 7 before before IN cord-014712-5u4e00q6 1032 8 A a DT cord-014712-5u4e00q6 1032 9 T t NN cord-014712-5u4e00q6 1032 10 diagnosis diagnosis NN cord-014712-5u4e00q6 1032 11 for for IN cord-014712-5u4e00q6 1032 12 2 2 CD cord-014712-5u4e00q6 1032 13 years year NNS cord-014712-5u4e00q6 1032 14 . . . cord-014712-5u4e00q6 1033 1 We -PRON- PRP cord-014712-5u4e00q6 1033 2 present present VBP cord-014712-5u4e00q6 1033 3 a a DT cord-014712-5u4e00q6 1033 4 patient patient NN cord-014712-5u4e00q6 1033 5 with with IN cord-014712-5u4e00q6 1033 6 a a DT cord-014712-5u4e00q6 1033 7 DOCK8 dock8 NN cord-014712-5u4e00q6 1033 8 deficiency deficiency NN cord-014712-5u4e00q6 1033 9 . . . cord-014712-5u4e00q6 1034 1 Mutations mutation NNS cord-014712-5u4e00q6 1034 2 in in IN cord-014712-5u4e00q6 1034 3 the the DT cord-014712-5u4e00q6 1034 4 dedicator dedicator NN cord-014712-5u4e00q6 1034 5 of of IN cord-014712-5u4e00q6 1034 6 cytokinesis cytokinesis NN cord-014712-5u4e00q6 1034 7 8 8 CD cord-014712-5u4e00q6 1034 8 gene gene NN cord-014712-5u4e00q6 1034 9 ( ( -LRB- cord-014712-5u4e00q6 1034 10 DOCK8 DOCK8 NNP cord-014712-5u4e00q6 1034 11 ) ) -RRB- cord-014712-5u4e00q6 1034 12 cause cause VB cord-014712-5u4e00q6 1034 13 a a DT cord-014712-5u4e00q6 1034 14 combined combined JJ cord-014712-5u4e00q6 1034 15 primary primary JJ cord-014712-5u4e00q6 1034 16 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1034 17 syndrome syndrome NN cord-014712-5u4e00q6 1034 18 that that WDT cord-014712-5u4e00q6 1034 19 is be VBZ cord-014712-5u4e00q6 1034 20 characterized characterize VBN cord-014712-5u4e00q6 1034 21 by by IN cord-014712-5u4e00q6 1034 22 elevated elevated JJ cord-014712-5u4e00q6 1034 23 serum serum NN cord-014712-5u4e00q6 1034 24 IgE IgE NNP cord-014712-5u4e00q6 1034 25 levels level NNS cord-014712-5u4e00q6 1034 26 , , , cord-014712-5u4e00q6 1034 27 depressed depressed JJ cord-014712-5u4e00q6 1034 28 IgM IgM NNP cord-014712-5u4e00q6 1034 29 levels level NNS cord-014712-5u4e00q6 1034 30 , , , cord-014712-5u4e00q6 1034 31 eosinophilia eosinophilia NN cord-014712-5u4e00q6 1034 32 , , , cord-014712-5u4e00q6 1034 33 sinopulmonary sinopulmonary JJ cord-014712-5u4e00q6 1034 34 infections infection NNS cord-014712-5u4e00q6 1034 35 , , , cord-014712-5u4e00q6 1034 36 cutaneous cutaneous JJ cord-014712-5u4e00q6 1034 37 viral viral JJ cord-014712-5u4e00q6 1034 38 infections infection NNS cord-014712-5u4e00q6 1034 39 , , , cord-014712-5u4e00q6 1034 40 and and CC cord-014712-5u4e00q6 1034 41 lymphopenia lymphopenia NNP cord-014712-5u4e00q6 1034 42 . . . cord-014712-5u4e00q6 1035 1 Onset onset NN cord-014712-5u4e00q6 1035 2 of of IN cord-014712-5u4e00q6 1035 3 the the DT cord-014712-5u4e00q6 1035 4 disease disease NN cord-014712-5u4e00q6 1035 5 was be VBD cord-014712-5u4e00q6 1035 6 observed observe VBN cord-014712-5u4e00q6 1035 7 at at IN cord-014712-5u4e00q6 1035 8 1-month 1-month CD cord-014712-5u4e00q6 1035 9 of of IN cord-014712-5u4e00q6 1035 10 age age NN cord-014712-5u4e00q6 1035 11 with with IN cord-014712-5u4e00q6 1035 12 severe severe JJ cord-014712-5u4e00q6 1035 13 eczema eczema NN cord-014712-5u4e00q6 1035 14 and and CC cord-014712-5u4e00q6 1035 15 recurrent recurrent JJ cord-014712-5u4e00q6 1035 16 respiratory respiratory JJ cord-014712-5u4e00q6 1035 17 infections infection NNS cord-014712-5u4e00q6 1035 18 ( ( -LRB- cord-014712-5u4e00q6 1035 19 pneumonia pneumonia NN cord-014712-5u4e00q6 1035 20 , , , cord-014712-5u4e00q6 1035 21 bronchitis bronchitis NN cord-014712-5u4e00q6 1035 22 , , , cord-014712-5u4e00q6 1035 23 otitis otitis NN cord-014712-5u4e00q6 1035 24 ) ) -RRB- cord-014712-5u4e00q6 1035 25 . . . cord-014712-5u4e00q6 1036 1 At at IN cord-014712-5u4e00q6 1036 2 5 5 CD cord-014712-5u4e00q6 1036 3 years year NNS cord-014712-5u4e00q6 1036 4 of of IN cord-014712-5u4e00q6 1036 5 age age NN cord-014712-5u4e00q6 1036 6 neuroblastoma neuroblastoma NN cord-014712-5u4e00q6 1036 7 was be VBD cord-014712-5u4e00q6 1036 8 diagnosed diagnose VBN cord-014712-5u4e00q6 1036 9 . . . cord-014712-5u4e00q6 1037 1 From from IN cord-014712-5u4e00q6 1037 2 the the DT cord-014712-5u4e00q6 1037 3 age age NN cord-014712-5u4e00q6 1037 4 of of IN cord-014712-5u4e00q6 1037 5 6 6 CD cord-014712-5u4e00q6 1037 6 years year NNS cord-014712-5u4e00q6 1037 7 he -PRON- PRP cord-014712-5u4e00q6 1037 8 started start VBD cord-014712-5u4e00q6 1037 9 with with IN cord-014712-5u4e00q6 1037 10 severe severe JJ cord-014712-5u4e00q6 1037 11 skin skin NN cord-014712-5u4e00q6 1037 12 infection infection NN cord-014712-5u4e00q6 1037 13 , , , cord-014712-5u4e00q6 1037 14 subsequently subsequently RB cord-014712-5u4e00q6 1037 15 recurrent recurrent JJ cord-014712-5u4e00q6 1037 16 mucocutaneous mucocutaneous JJ cord-014712-5u4e00q6 1037 17 aspergillosis aspergillosis NNP cord-014712-5u4e00q6 1037 18 was be VBD cord-014712-5u4e00q6 1037 19 established establish VBN cord-014712-5u4e00q6 1037 20 based base VBN cord-014712-5u4e00q6 1037 21 on on IN cord-014712-5u4e00q6 1037 22 skin skin NN cord-014712-5u4e00q6 1037 23 biopsy biopsy NN cord-014712-5u4e00q6 1037 24 and and CC cord-014712-5u4e00q6 1037 25 bacteriological bacteriological JJ cord-014712-5u4e00q6 1037 26 studies study NNS cord-014712-5u4e00q6 1037 27 . . . cord-014712-5u4e00q6 1038 1 Immunological immunological JJ cord-014712-5u4e00q6 1038 2 investigations investigation NNS cord-014712-5u4e00q6 1038 3 revealed reveal VBD cord-014712-5u4e00q6 1038 4 persistent persistent JJ cord-014712-5u4e00q6 1038 5 leukocytosis leukocytosis NNP cord-014712-5u4e00q6 1038 6 , , , cord-014712-5u4e00q6 1038 7 hypereosinophilia hypereosinophilia NNP cord-014712-5u4e00q6 1038 8 , , , cord-014712-5u4e00q6 1038 9 low low JJ cord-014712-5u4e00q6 1038 10 level level NN cord-014712-5u4e00q6 1038 11 of of IN cord-014712-5u4e00q6 1038 12 IgM IgM NNP cord-014712-5u4e00q6 1038 13 and and CC cord-014712-5u4e00q6 1038 14 increased increase VBD cord-014712-5u4e00q6 1038 15 IgE IgE NNP cord-014712-5u4e00q6 1038 16 up up IN cord-014712-5u4e00q6 1038 17 to to IN cord-014712-5u4e00q6 1038 18 5 5 CD cord-014712-5u4e00q6 1038 19 000 000 CD cord-014712-5u4e00q6 1038 20 IU IU NNP cord-014712-5u4e00q6 1038 21 / / , cord-014712-5u4e00q6 1038 22 ml ml NN cord-014712-5u4e00q6 1038 23 . . . cord-014712-5u4e00q6 1039 1 So so RB cord-014712-5u4e00q6 1039 2 Hyper Hyper NNP cord-014712-5u4e00q6 1039 3 IgE IgE NNP cord-014712-5u4e00q6 1039 4 syndrome syndrome NN cord-014712-5u4e00q6 1039 5 was be VBD cord-014712-5u4e00q6 1039 6 diagnosed diagnose VBN cord-014712-5u4e00q6 1039 7 and and CC cord-014712-5u4e00q6 1039 8 genetically genetically RB cord-014712-5u4e00q6 1039 9 confirmed confirm VBN cord-014712-5u4e00q6 1039 10 when when WRB cord-014712-5u4e00q6 1039 11 a a DT cord-014712-5u4e00q6 1039 12 large large JJ cord-014712-5u4e00q6 1039 13 deletion deletion NN cord-014712-5u4e00q6 1039 14 of of IN cord-014712-5u4e00q6 1039 15 the the DT cord-014712-5u4e00q6 1039 16 DOCK8-gene DOCK8-gene NNP cord-014712-5u4e00q6 1039 17 was be VBD cord-014712-5u4e00q6 1039 18 identified identify VBN cord-014712-5u4e00q6 1039 19 . . . cord-014712-5u4e00q6 1040 1 Stem stem JJ cord-014712-5u4e00q6 1040 2 cell cell NN cord-014712-5u4e00q6 1040 3 transplantation transplantation NN cord-014712-5u4e00q6 1040 4 was be VBD cord-014712-5u4e00q6 1040 5 performed perform VBN cord-014712-5u4e00q6 1040 6 in in IN cord-014712-5u4e00q6 1040 7 2012 2012 CD cord-014712-5u4e00q6 1040 8 when when WRB cord-014712-5u4e00q6 1040 9 the the DT cord-014712-5u4e00q6 1040 10 patient patient NN cord-014712-5u4e00q6 1040 11 was be VBD cord-014712-5u4e00q6 1040 12 11 11 CD cord-014712-5u4e00q6 1040 13 y.o y.o NNP cord-014712-5u4e00q6 1040 14 . . . cord-014712-5u4e00q6 1041 1 One one CD cord-014712-5u4e00q6 1041 2 year year NN cord-014712-5u4e00q6 1041 3 later later RB cord-014712-5u4e00q6 1041 4 progressive progressive JJ cord-014712-5u4e00q6 1041 5 multifocal multifocal JJ cord-014712-5u4e00q6 1041 6 leukoencephalopathy leukoencephalopathy NNP cord-014712-5u4e00q6 1041 7 secondary secondary JJ cord-014712-5u4e00q6 1041 8 to to IN cord-014712-5u4e00q6 1041 9 infection infection NN cord-014712-5u4e00q6 1041 10 by by IN cord-014712-5u4e00q6 1041 11 Polyomavirus Polyomavirus NNP cord-014712-5u4e00q6 1041 12 JC JC NNP cord-014712-5u4e00q6 1041 13 was be VBD cord-014712-5u4e00q6 1041 14 diagnosed diagnose VBN cord-014712-5u4e00q6 1041 15 . . . cord-014712-5u4e00q6 1042 1 But but CC cord-014712-5u4e00q6 1042 2 after after IN cord-014712-5u4e00q6 1042 3 immunosuppressive immunosuppressive JJ cord-014712-5u4e00q6 1042 4 therapy therapy NN cord-014712-5u4e00q6 1042 5 with with IN cord-014712-5u4e00q6 1042 6 Cyclosporine Cyclosporine NNP cord-014712-5u4e00q6 1042 7 Awas Awas NNP cord-014712-5u4e00q6 1042 8 suspended suspend VBD cord-014712-5u4e00q6 1042 9 our -PRON- PRP$ cord-014712-5u4e00q6 1042 10 patient patient NN cord-014712-5u4e00q6 1042 11 's 's POS cord-014712-5u4e00q6 1042 12 condition condition NN cord-014712-5u4e00q6 1042 13 improved improve VBD cord-014712-5u4e00q6 1042 14 : : : cord-014712-5u4e00q6 1042 15 the the DT cord-014712-5u4e00q6 1042 16 load load NN cord-014712-5u4e00q6 1042 17 of of IN cord-014712-5u4e00q6 1042 18 Polyomavirus Polyomavirus NNP cord-014712-5u4e00q6 1042 19 JC JC NNP cord-014712-5u4e00q6 1042 20 on on IN cord-014712-5u4e00q6 1042 21 plasma plasma NN cord-014712-5u4e00q6 1042 22 showed show VBD cord-014712-5u4e00q6 1042 23 a a DT cord-014712-5u4e00q6 1042 24 decrease decrease NN cord-014712-5u4e00q6 1042 25 ; ; : cord-014712-5u4e00q6 1042 26 MRI MRI NNP cord-014712-5u4e00q6 1042 27 brain brain NN cord-014712-5u4e00q6 1042 28 was be VBD cord-014712-5u4e00q6 1042 29 essentially essentially RB cord-014712-5u4e00q6 1042 30 stable stable JJ cord-014712-5u4e00q6 1042 31 ; ; : cord-014712-5u4e00q6 1042 32 immunological immunological JJ cord-014712-5u4e00q6 1042 33 tests test NNS cord-014712-5u4e00q6 1042 34 showed show VBD cord-014712-5u4e00q6 1042 35 an an DT cord-014712-5u4e00q6 1042 36 initial initial JJ cord-014712-5u4e00q6 1042 37 improvement improvement NN cord-014712-5u4e00q6 1042 38 of of IN cord-014712-5u4e00q6 1042 39 subpopulations subpopulation NNS cord-014712-5u4e00q6 1042 40 and and CC cord-014712-5u4e00q6 1042 41 proliferative proliferative JJ cord-014712-5u4e00q6 1042 42 response response NN cord-014712-5u4e00q6 1042 43 to to IN cord-014712-5u4e00q6 1042 44 mitogens mitogens NNP cord-014712-5u4e00q6 1042 45 ; ; , cord-014712-5u4e00q6 1042 46 donor donor NN cord-014712-5u4e00q6 1042 47 chimerism chimerism NN cord-014712-5u4e00q6 1042 48 100 100 CD cord-014712-5u4e00q6 1042 49 % % NN cord-014712-5u4e00q6 1042 50 stable stable JJ cord-014712-5u4e00q6 1042 51 . . . cord-014712-5u4e00q6 1043 1 Özdemir Özdemir NNP cord-014712-5u4e00q6 1043 2 Öner Öner NNP cord-014712-5u4e00q6 1043 3 1 1 CD cord-014712-5u4e00q6 1044 1 ; ; : cord-014712-5u4e00q6 1044 2 Bozdoğan Bozdoğan NNP cord-014712-5u4e00q6 1044 3 Sıla Sıla NNP cord-014712-5u4e00q6 1044 4 2 2 CD cord-014712-5u4e00q6 1044 5 1 1 CD cord-014712-5u4e00q6 1044 6 Department Department NNP cord-014712-5u4e00q6 1044 7 of of IN cord-014712-5u4e00q6 1044 8 Pediatrics Pediatrics NNP cord-014712-5u4e00q6 1044 9 , , , cord-014712-5u4e00q6 1044 10 Division Division NNP cord-014712-5u4e00q6 1044 11 of of IN cord-014712-5u4e00q6 1044 12 Allergy Allergy NNP cord-014712-5u4e00q6 1044 13 / / SYM cord-014712-5u4e00q6 1044 14 Immunology Immunology NNP cord-014712-5u4e00q6 1044 15 , , , cord-014712-5u4e00q6 1044 16 Sakarya Sakarya NNP cord-014712-5u4e00q6 1044 17 University University NNP cord-014712-5u4e00q6 1044 18 , , , cord-014712-5u4e00q6 1044 19 Medical Medical NNP cord-014712-5u4e00q6 1044 20 Faculty Faculty NNP cord-014712-5u4e00q6 1044 21 , , , cord-014712-5u4e00q6 1044 22 Adapazarı Adapazarı NNP cord-014712-5u4e00q6 1044 23 , , , cord-014712-5u4e00q6 1044 24 Türkiye Türkiye NNP cord-014712-5u4e00q6 1044 25 . . . cord-014712-5u4e00q6 1045 1 Background background NN cord-014712-5u4e00q6 1045 2 : : : cord-014712-5u4e00q6 1046 1 Bronchiolitis bronchiolitis NN cord-014712-5u4e00q6 1046 2 and and CC cord-014712-5u4e00q6 1046 3 infantile infantile JJ cord-014712-5u4e00q6 1046 4 asthma asthma NN cord-014712-5u4e00q6 1046 5 are be VBP cord-014712-5u4e00q6 1046 6 the the DT cord-014712-5u4e00q6 1046 7 most most RBS cord-014712-5u4e00q6 1046 8 frequent frequent JJ cord-014712-5u4e00q6 1046 9 causes cause NNS cord-014712-5u4e00q6 1046 10 for for IN cord-014712-5u4e00q6 1046 11 typical typical JJ cord-014712-5u4e00q6 1046 12 wheezing wheezing JJ cord-014712-5u4e00q6 1046 13 signs sign NNS cord-014712-5u4e00q6 1046 14 in in IN cord-014712-5u4e00q6 1046 15 infants infant NNS cord-014712-5u4e00q6 1046 16 . . . cord-014712-5u4e00q6 1047 1 However however RB cord-014712-5u4e00q6 1047 2 , , , cord-014712-5u4e00q6 1047 3 when when WRB cord-014712-5u4e00q6 1047 4 a a DT cord-014712-5u4e00q6 1047 5 physician physician NN cord-014712-5u4e00q6 1047 6 comes come VBZ cord-014712-5u4e00q6 1047 7 across across IN cord-014712-5u4e00q6 1047 8 patients patient NNS cord-014712-5u4e00q6 1047 9 with with IN cord-014712-5u4e00q6 1047 10 recurrent recurrent JJ cord-014712-5u4e00q6 1047 11 wheezing wheeze VBG cord-014712-5u4e00q6 1047 12 are be VBP cord-014712-5u4e00q6 1047 13 resistant resistant JJ cord-014712-5u4e00q6 1047 14 to to IN cord-014712-5u4e00q6 1047 15 β2-agonist β2-agonist NN cord-014712-5u4e00q6 1047 16 and and CC cord-014712-5u4e00q6 1047 17 anti anti JJ cord-014712-5u4e00q6 1047 18 - - JJ cord-014712-5u4e00q6 1047 19 cholinergic cholinergic JJ cord-014712-5u4e00q6 1047 20 therapy therapy NN cord-014712-5u4e00q6 1047 21 , , , cord-014712-5u4e00q6 1047 22 known know VBN cord-014712-5u4e00q6 1047 23 as as IN cord-014712-5u4e00q6 1047 24 atypical atypical JJ cord-014712-5u4e00q6 1047 25 wheezing wheezing JJ cord-014712-5u4e00q6 1047 26 cases case NNS cord-014712-5u4e00q6 1047 27 ; ; : cord-014712-5u4e00q6 1047 28 he -PRON- PRP cord-014712-5u4e00q6 1047 29 should should MD cord-014712-5u4e00q6 1047 30 investigate investigate VB cord-014712-5u4e00q6 1047 31 for for IN cord-014712-5u4e00q6 1047 32 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 1047 33 in in IN cord-014712-5u4e00q6 1047 34 these these DT cord-014712-5u4e00q6 1047 35 patients patient NNS cord-014712-5u4e00q6 1047 36 . . . cord-014712-5u4e00q6 1048 1 Aim aim VB cord-014712-5u4e00q6 1048 2 : : : cord-014712-5u4e00q6 1048 3 Here here RB cord-014712-5u4e00q6 1048 4 , , , cord-014712-5u4e00q6 1048 5 three three CD cord-014712-5u4e00q6 1048 6 cases case NNS cord-014712-5u4e00q6 1048 7 are be VBP cord-014712-5u4e00q6 1048 8 reported report VBN cord-014712-5u4e00q6 1048 9 to to TO cord-014712-5u4e00q6 1048 10 make make VB cord-014712-5u4e00q6 1048 11 pediatricians pediatrician NNS cord-014712-5u4e00q6 1048 12 aware aware JJ cord-014712-5u4e00q6 1048 13 of of IN cord-014712-5u4e00q6 1048 14 hypogammaglobulinemia hypogammaglobulinemia NNP cord-014712-5u4e00q6 1048 15 , , , cord-014712-5u4e00q6 1048 16 which which WDT cord-014712-5u4e00q6 1048 17 is be VBZ cord-014712-5u4e00q6 1048 18 one one CD cord-014712-5u4e00q6 1048 19 of of IN cord-014712-5u4e00q6 1048 20 the the DT cord-014712-5u4e00q6 1048 21 reasons reason NNS cord-014712-5u4e00q6 1048 22 causing cause VBG cord-014712-5u4e00q6 1048 23 recurrent recurrent JJ cord-014712-5u4e00q6 1048 24 and and CC cord-014712-5u4e00q6 1048 25 persistent persistent JJ cord-014712-5u4e00q6 1048 26 wheezing wheezing JJ cord-014712-5u4e00q6 1048 27 attacks attack NNS cord-014712-5u4e00q6 1048 28 during during IN cord-014712-5u4e00q6 1048 29 infancy infancy NN cord-014712-5u4e00q6 1048 30 and and CC cord-014712-5u4e00q6 1048 31 beyond beyond IN cord-014712-5u4e00q6 1048 32 . . . cord-014712-5u4e00q6 1049 1 Case case NN cord-014712-5u4e00q6 1049 2 presentations presentation NNS cord-014712-5u4e00q6 1049 3 : : : cord-014712-5u4e00q6 1050 1 Case case NN cord-014712-5u4e00q6 1050 2 1 1 CD cord-014712-5u4e00q6 1050 3 : : : cord-014712-5u4e00q6 1050 4 24 24 CD cord-014712-5u4e00q6 1050 5 month month NN cord-014712-5u4e00q6 1050 6 - - HYPH cord-014712-5u4e00q6 1050 7 old old JJ cord-014712-5u4e00q6 1050 8 girl girl NN cord-014712-5u4e00q6 1050 9 presented present VBN cord-014712-5u4e00q6 1050 10 to to IN cord-014712-5u4e00q6 1050 11 us -PRON- PRP cord-014712-5u4e00q6 1050 12 with with IN cord-014712-5u4e00q6 1050 13 complaining complain VBG cord-014712-5u4e00q6 1050 14 of of IN cord-014712-5u4e00q6 1050 15 coughing cough VBG cord-014712-5u4e00q6 1050 16 and and CC cord-014712-5u4e00q6 1050 17 persistent persistent JJ cord-014712-5u4e00q6 1050 18 wheezing wheezing NN cord-014712-5u4e00q6 1050 19 . . . cord-014712-5u4e00q6 1051 1 She -PRON- PRP cord-014712-5u4e00q6 1051 2 has have VBZ cord-014712-5u4e00q6 1051 3 been be VBN cord-014712-5u4e00q6 1051 4 having have VBG cord-014712-5u4e00q6 1051 5 wheezing wheeze VBG cord-014712-5u4e00q6 1051 6 and and CC cord-014712-5u4e00q6 1051 7 breathing breathe VBG cord-014712-5u4e00q6 1051 8 difficulty difficulty NN cord-014712-5u4e00q6 1051 9 for for IN cord-014712-5u4e00q6 1051 10 the the DT cord-014712-5u4e00q6 1051 11 last last JJ cord-014712-5u4e00q6 1051 12 2 2 CD cord-014712-5u4e00q6 1051 13 months month NNS cord-014712-5u4e00q6 1051 14 after after IN cord-014712-5u4e00q6 1051 15 she -PRON- PRP cord-014712-5u4e00q6 1051 16 got get VBD cord-014712-5u4e00q6 1051 17 upper upper JJ cord-014712-5u4e00q6 1051 18 respiratory respiratory JJ cord-014712-5u4e00q6 1051 19 tract tract NN cord-014712-5u4e00q6 1051 20 infection infection NN cord-014712-5u4e00q6 1051 21 . . . cord-014712-5u4e00q6 1052 1 Her -PRON- PRP$ cord-014712-5u4e00q6 1052 2 symptoms symptom NNS cord-014712-5u4e00q6 1052 3 persisted persist VBD cord-014712-5u4e00q6 1052 4 even even RB cord-014712-5u4e00q6 1052 5 though though IN cord-014712-5u4e00q6 1052 6 she -PRON- PRP cord-014712-5u4e00q6 1052 7 was be VBD cord-014712-5u4e00q6 1052 8 using use VBG cord-014712-5u4e00q6 1052 9 religiously religiously RB cord-014712-5u4e00q6 1052 10 nebulized nebulize VBN cord-014712-5u4e00q6 1052 11 salbutamol salbutamol NN cord-014712-5u4e00q6 1052 12 + + CC cord-014712-5u4e00q6 1052 13 budesonid budesonid NNP cord-014712-5u4e00q6 1052 14 therapy therapy NN cord-014712-5u4e00q6 1052 15 . . . cord-014712-5u4e00q6 1053 1 Before before IN cord-014712-5u4e00q6 1053 2 this this DT cord-014712-5u4e00q6 1053 3 episode episode NN cord-014712-5u4e00q6 1053 4 , , , cord-014712-5u4e00q6 1053 5 she -PRON- PRP cord-014712-5u4e00q6 1053 6 had have VBD cord-014712-5u4e00q6 1053 7 had have VBN cord-014712-5u4e00q6 1053 8 9 9 CD cord-014712-5u4e00q6 1053 9 other other JJ cord-014712-5u4e00q6 1053 10 wheezing wheeze VBG cord-014712-5u4e00q6 1053 11 attacks attack NNS cord-014712-5u4e00q6 1053 12 in in IN cord-014712-5u4e00q6 1053 13 her -PRON- PRP$ cord-014712-5u4e00q6 1053 14 past past JJ cord-014712-5u4e00q6 1053 15 medical medical JJ cord-014712-5u4e00q6 1053 16 history history NN cord-014712-5u4e00q6 1053 17 beginning begin VBG cord-014712-5u4e00q6 1053 18 from from IN cord-014712-5u4e00q6 1053 19 2 2 CD cord-014712-5u4e00q6 1053 20 months month NNS cord-014712-5u4e00q6 1053 21 of of IN cord-014712-5u4e00q6 1053 22 age age NN cord-014712-5u4e00q6 1053 23 . . . cord-014712-5u4e00q6 1054 1 In in IN cord-014712-5u4e00q6 1054 2 her -PRON- PRP$ cord-014712-5u4e00q6 1054 3 family family NN cord-014712-5u4e00q6 1054 4 history history NN cord-014712-5u4e00q6 1054 5 , , , cord-014712-5u4e00q6 1054 6 her -PRON- PRP$ cord-014712-5u4e00q6 1054 7 father father NN cord-014712-5u4e00q6 1054 8 has have VBZ cord-014712-5u4e00q6 1054 9 asthma asthma NN cord-014712-5u4e00q6 1054 10 . . . cord-014712-5u4e00q6 1055 1 Physical physical JJ cord-014712-5u4e00q6 1055 2 examination examination NN cord-014712-5u4e00q6 1055 3 revealed reveal VBD cord-014712-5u4e00q6 1055 4 her -PRON- PRP$ cord-014712-5u4e00q6 1055 5 breathing breathing NN cord-014712-5u4e00q6 1055 6 difficulty difficulty NN cord-014712-5u4e00q6 1055 7 . . . cord-014712-5u4e00q6 1056 1 Ronchi Ronchi NNP cord-014712-5u4e00q6 1056 2 as as RB cord-014712-5u4e00q6 1056 3 well well RB cord-014712-5u4e00q6 1056 4 as as IN cord-014712-5u4e00q6 1056 5 rales rale NNS cord-014712-5u4e00q6 1056 6 were be VBD cord-014712-5u4e00q6 1056 7 heard hear VBN cord-014712-5u4e00q6 1056 8 on on IN cord-014712-5u4e00q6 1056 9 the the DT cord-014712-5u4e00q6 1056 10 auscultation auscultation NN cord-014712-5u4e00q6 1056 11 of of IN cord-014712-5u4e00q6 1056 12 her -PRON- PRP$ cord-014712-5u4e00q6 1056 13 lungs lung NNS cord-014712-5u4e00q6 1056 14 . . . cord-014712-5u4e00q6 1057 1 At at IN cord-014712-5u4e00q6 1057 2 the the DT cord-014712-5u4e00q6 1057 3 fourth fourth JJ cord-014712-5u4e00q6 1057 4 day day NN cord-014712-5u4e00q6 1057 5 of of IN cord-014712-5u4e00q6 1057 6 admission admission NN cord-014712-5u4e00q6 1057 7 , , , cord-014712-5u4e00q6 1057 8 she -PRON- PRP cord-014712-5u4e00q6 1057 9 was be VBD cord-014712-5u4e00q6 1057 10 given give VBN cord-014712-5u4e00q6 1057 11 IVIG IVIG NNP cord-014712-5u4e00q6 1057 12 500mg 500mg NNP cord-014712-5u4e00q6 1057 13 / / SYM cord-014712-5u4e00q6 1057 14 kg kg NN cord-014712-5u4e00q6 1057 15 / / SYM cord-014712-5u4e00q6 1057 16 dose dose NN cord-014712-5u4e00q6 1057 17 . . . cord-014712-5u4e00q6 1058 1 Later later RB cord-014712-5u4e00q6 1058 2 , , , cord-014712-5u4e00q6 1058 3 her -PRON- PRP$ cord-014712-5u4e00q6 1058 4 symptoms symptom NNS cord-014712-5u4e00q6 1058 5 did do VBD cord-014712-5u4e00q6 1058 6 improve improve VB cord-014712-5u4e00q6 1058 7 and and CC cord-014712-5u4e00q6 1058 8 not not RB cord-014712-5u4e00q6 1058 9 recur recur VB cord-014712-5u4e00q6 1058 10 for for IN cord-014712-5u4e00q6 1058 11 the the DT cord-014712-5u4e00q6 1058 12 last last JJ cord-014712-5u4e00q6 1058 13 5 5 CD cord-014712-5u4e00q6 1058 14 months month NNS cord-014712-5u4e00q6 1058 15 . . . cord-014712-5u4e00q6 1059 1 Laboratory laboratory NN cord-014712-5u4e00q6 1059 2 findings finding NNS cord-014712-5u4e00q6 1059 3 showed show VBD cord-014712-5u4e00q6 1059 4 normal normal JJ cord-014712-5u4e00q6 1059 5 routine routine JJ cord-014712-5u4e00q6 1059 6 biochemistry biochemistry NN cord-014712-5u4e00q6 1059 7 , , , cord-014712-5u4e00q6 1059 8 complete complete VB cord-014712-5u4e00q6 1059 9 blood blood NN cord-014712-5u4e00q6 1059 10 count count NN cord-014712-5u4e00q6 1059 11 and and CC cord-014712-5u4e00q6 1059 12 sedimentation sedimentation NN cord-014712-5u4e00q6 1059 13 rate rate NN cord-014712-5u4e00q6 1059 14 . . . cord-014712-5u4e00q6 1060 1 Chest chest NN cord-014712-5u4e00q6 1060 2 X x NN cord-014712-5u4e00q6 1060 3 - - NN cord-014712-5u4e00q6 1060 4 ray ray NN cord-014712-5u4e00q6 1060 5 showed show VBD cord-014712-5u4e00q6 1060 6 normal normal JJ cord-014712-5u4e00q6 1060 7 findings finding NNS cord-014712-5u4e00q6 1060 8 . . . cord-014712-5u4e00q6 1061 1 Echography Echography NNP cord-014712-5u4e00q6 1061 2 was be VBD cord-014712-5u4e00q6 1061 3 normal normal JJ cord-014712-5u4e00q6 1061 4 . . . cord-014712-5u4e00q6 1062 1 pH pH NNP cord-014712-5u4e00q6 1062 2 - - HYPH cord-014712-5u4e00q6 1062 3 metry metry NNP cord-014712-5u4e00q6 1062 4 for for IN cord-014712-5u4e00q6 1062 5 reflux reflux NN cord-014712-5u4e00q6 1062 6 investigation investigation NN cord-014712-5u4e00q6 1062 7 was be VBD cord-014712-5u4e00q6 1062 8 normal normal JJ cord-014712-5u4e00q6 1062 9 . . . cord-014712-5u4e00q6 1063 1 Sweat sweat NN cord-014712-5u4e00q6 1063 2 test test NN cord-014712-5u4e00q6 1063 3 was be VBD cord-014712-5u4e00q6 1063 4 normal normal JJ cord-014712-5u4e00q6 1063 5 . . . cord-014712-5u4e00q6 1064 1 In in IN cord-014712-5u4e00q6 1064 2 the the DT cord-014712-5u4e00q6 1064 3 serological serological JJ cord-014712-5u4e00q6 1064 4 evaluation evaluation NN cord-014712-5u4e00q6 1064 5 : : : cord-014712-5u4e00q6 1064 6 low low JJ cord-014712-5u4e00q6 1064 7 IgG igg NN cord-014712-5u4e00q6 1064 8 level level NN cord-014712-5u4e00q6 1064 9 for for IN cord-014712-5u4e00q6 1064 10 his -PRON- PRP$ cord-014712-5u4e00q6 1064 11 age age NN cord-014712-5u4e00q6 1064 12 ( ( -LRB- cord-014712-5u4e00q6 1064 13 358 358 CD cord-014712-5u4e00q6 1064 14 mg mg NNP cord-014712-5u4e00q6 1064 15 / / SYM cord-014712-5u4e00q6 1064 16 dl dl NNP cord-014712-5u4e00q6 1064 17 ) ) -RRB- cord-014712-5u4e00q6 1064 18 was be VBD cord-014712-5u4e00q6 1064 19 detected detect VBN cord-014712-5u4e00q6 1064 20 at at IN cord-014712-5u4e00q6 1064 21 two two CD cord-014712-5u4e00q6 1064 22 different different JJ cord-014712-5u4e00q6 1064 23 times time NNS cord-014712-5u4e00q6 1064 24 . . . cord-014712-5u4e00q6 1065 1 IgG IgG NNP cord-014712-5u4e00q6 1065 2 subgroups subgroups NNP cord-014712-5u4e00q6 1065 3 , , , cord-014712-5u4e00q6 1065 4 IgM IgM NNP cord-014712-5u4e00q6 1065 5 ( ( -LRB- cord-014712-5u4e00q6 1065 6 156 156 CD cord-014712-5u4e00q6 1065 7 mg/ mg/ NN cord-014712-5u4e00q6 1065 8 dl dl NNP cord-014712-5u4e00q6 1065 9 ) ) -RRB- cord-014712-5u4e00q6 1065 10 , , , cord-014712-5u4e00q6 1065 11 IgA IgA NNP cord-014712-5u4e00q6 1065 12 ( ( -LRB- cord-014712-5u4e00q6 1065 13 34 34 CD cord-014712-5u4e00q6 1065 14 mg mg NNP cord-014712-5u4e00q6 1065 15 / / SYM cord-014712-5u4e00q6 1065 16 dl dl NNP cord-014712-5u4e00q6 1065 17 ) ) -RRB- cord-014712-5u4e00q6 1065 18 and and CC cord-014712-5u4e00q6 1065 19 IgE IgE NNP cord-014712-5u4e00q6 1065 20 ( ( -LRB- cord-014712-5u4e00q6 1065 21 68 68 CD cord-014712-5u4e00q6 1065 22 ) ) -RRB- cord-014712-5u4e00q6 1065 23 levels level NNS cord-014712-5u4e00q6 1065 24 were be VBD cord-014712-5u4e00q6 1065 25 within within IN cord-014712-5u4e00q6 1065 26 normal normal JJ cord-014712-5u4e00q6 1065 27 . . . cord-014712-5u4e00q6 1066 1 Case case NN cord-014712-5u4e00q6 1066 2 2 2 CD cord-014712-5u4e00q6 1066 3 : : : cord-014712-5u4e00q6 1066 4 8-month 8-month JJ cord-014712-5u4e00q6 1066 5 - - HYPH cord-014712-5u4e00q6 1066 6 old old JJ cord-014712-5u4e00q6 1066 7 girl girl NN cord-014712-5u4e00q6 1066 8 came come VBD cord-014712-5u4e00q6 1066 9 to to IN cord-014712-5u4e00q6 1066 10 our -PRON- PRP$ cord-014712-5u4e00q6 1066 11 outpatient outpatient NN cord-014712-5u4e00q6 1066 12 clinic clinic NN cord-014712-5u4e00q6 1066 13 with with IN cord-014712-5u4e00q6 1066 14 complaints complaint NNS cord-014712-5u4e00q6 1066 15 of of IN cord-014712-5u4e00q6 1066 16 coughing cough VBG cord-014712-5u4e00q6 1066 17 and and CC cord-014712-5u4e00q6 1066 18 wheezing wheezing NN cord-014712-5u4e00q6 1066 19 . . . cord-014712-5u4e00q6 1067 1 At at IN cord-014712-5u4e00q6 1067 2 2 2 CD cord-014712-5u4e00q6 1067 3 months month NNS cord-014712-5u4e00q6 1067 4 of of IN cord-014712-5u4e00q6 1067 5 age age NN cord-014712-5u4e00q6 1067 6 , , , cord-014712-5u4e00q6 1067 7 she -PRON- PRP cord-014712-5u4e00q6 1067 8 had have VBD cord-014712-5u4e00q6 1067 9 urinary urinary JJ cord-014712-5u4e00q6 1067 10 and and CC cord-014712-5u4e00q6 1067 11 upper upper JJ cord-014712-5u4e00q6 1067 12 respiratory respiratory JJ cord-014712-5u4e00q6 1067 13 tract tract NN cord-014712-5u4e00q6 1067 14 infections infection NNS cord-014712-5u4e00q6 1067 15 . . . cord-014712-5u4e00q6 1068 1 Despite despite IN cord-014712-5u4e00q6 1068 2 antibiotic antibiotic JJ cord-014712-5u4e00q6 1068 3 therapy therapy NN cord-014712-5u4e00q6 1068 4 , , , cord-014712-5u4e00q6 1068 5 wheezing wheeze VBG cord-014712-5u4e00q6 1068 6 persisted persist VBD cord-014712-5u4e00q6 1068 7 for for IN cord-014712-5u4e00q6 1068 8 2 2 CD cord-014712-5u4e00q6 1068 9 months month NNS cord-014712-5u4e00q6 1068 10 and and CC cord-014712-5u4e00q6 1068 11 wheezing wheeze VBG cord-014712-5u4e00q6 1068 12 severity severity NN cord-014712-5u4e00q6 1068 13 increased increase VBD cord-014712-5u4e00q6 1068 14 and and CC cord-014712-5u4e00q6 1068 15 it -PRON- PRP cord-014712-5u4e00q6 1068 16 did do VBD cord-014712-5u4e00q6 1068 17 not not RB cord-014712-5u4e00q6 1068 18 respond respond VB cord-014712-5u4e00q6 1068 19 to to IN cord-014712-5u4e00q6 1068 20 β2-agonist β2-agonist NN cord-014712-5u4e00q6 1068 21 therapy therapy NN cord-014712-5u4e00q6 1068 22 . . . cord-014712-5u4e00q6 1069 1 Thereafter thereafter RB cord-014712-5u4e00q6 1069 2 , , , cord-014712-5u4e00q6 1069 3 she -PRON- PRP cord-014712-5u4e00q6 1069 4 was be VBD cord-014712-5u4e00q6 1069 5 admitted admit VBN cord-014712-5u4e00q6 1069 6 to to IN cord-014712-5u4e00q6 1069 7 the the DT cord-014712-5u4e00q6 1069 8 hospital hospital NN cord-014712-5u4e00q6 1069 9 for for IN cord-014712-5u4e00q6 1069 10 7 7 CD cord-014712-5u4e00q6 1069 11 days day NNS cord-014712-5u4e00q6 1069 12 and and CC cord-014712-5u4e00q6 1069 13 symptoms symptom NNS cord-014712-5u4e00q6 1069 14 resolved resolve VBD cord-014712-5u4e00q6 1069 15 . . . cord-014712-5u4e00q6 1070 1 However however RB cord-014712-5u4e00q6 1070 2 , , , cord-014712-5u4e00q6 1070 3 she -PRON- PRP cord-014712-5u4e00q6 1070 4 came come VBD cord-014712-5u4e00q6 1070 5 back back RB cord-014712-5u4e00q6 1070 6 to to IN cord-014712-5u4e00q6 1070 7 hospital hospital NN cord-014712-5u4e00q6 1070 8 due due IN cord-014712-5u4e00q6 1070 9 to to IN cord-014712-5u4e00q6 1070 10 recurrence recurrence NN cord-014712-5u4e00q6 1070 11 of of IN cord-014712-5u4e00q6 1070 12 her -PRON- PRP$ cord-014712-5u4e00q6 1070 13 symptoms symptom NNS cord-014712-5u4e00q6 1070 14 in in IN cord-014712-5u4e00q6 1070 15 10 10 CD cord-014712-5u4e00q6 1070 16 days day NNS cord-014712-5u4e00q6 1070 17 . . . cord-014712-5u4e00q6 1071 1 In in IN cord-014712-5u4e00q6 1071 2 her -PRON- PRP$ cord-014712-5u4e00q6 1071 3 family family NN cord-014712-5u4e00q6 1071 4 history history NN cord-014712-5u4e00q6 1071 5 , , , cord-014712-5u4e00q6 1071 6 grandmother grandmother NN cord-014712-5u4e00q6 1071 7 and and CC cord-014712-5u4e00q6 1071 8 her -PRON- PRP$ cord-014712-5u4e00q6 1071 9 cousins cousin NNS cord-014712-5u4e00q6 1071 10 have have VBP cord-014712-5u4e00q6 1071 11 asthma asthma NN cord-014712-5u4e00q6 1071 12 . . . cord-014712-5u4e00q6 1072 1 Physical physical JJ cord-014712-5u4e00q6 1072 2 examination examination NN cord-014712-5u4e00q6 1072 3 showed show VBD cord-014712-5u4e00q6 1072 4 breathing breathe VBG cord-014712-5u4e00q6 1072 5 difficulty difficulty NN cord-014712-5u4e00q6 1072 6 . . . cord-014712-5u4e00q6 1073 1 Ronchi Ronchi NNP cord-014712-5u4e00q6 1073 2 as as RB cord-014712-5u4e00q6 1073 3 well well RB cord-014712-5u4e00q6 1073 4 as as IN cord-014712-5u4e00q6 1073 5 rales rale NNS cord-014712-5u4e00q6 1073 6 were be VBD cord-014712-5u4e00q6 1073 7 heard hear VBN cord-014712-5u4e00q6 1073 8 on on IN cord-014712-5u4e00q6 1073 9 her -PRON- PRP$ cord-014712-5u4e00q6 1073 10 lungs lung NNS cord-014712-5u4e00q6 1073 11 . . . cord-014712-5u4e00q6 1074 1 Although although IN cord-014712-5u4e00q6 1074 2 salbutamol salbutamol NNP cord-014712-5u4e00q6 1074 3 , , , cord-014712-5u4e00q6 1074 4 ipratropium ipratropium NNP cord-014712-5u4e00q6 1074 5 , , , cord-014712-5u4e00q6 1074 6 antibiotherapy antibiotherapy NNP cord-014712-5u4e00q6 1074 7 ( ( -LRB- cord-014712-5u4e00q6 1074 8 clarithromycin clarithromycin NNP cord-014712-5u4e00q6 1074 9 ) ) -RRB- cord-014712-5u4e00q6 1074 10 and and CC cord-014712-5u4e00q6 1074 11 anti anti JJ cord-014712-5u4e00q6 1074 12 - - JJ cord-014712-5u4e00q6 1074 13 reflux reflux JJ cord-014712-5u4e00q6 1074 14 therapies therapy NNS cord-014712-5u4e00q6 1074 15 were be VBD cord-014712-5u4e00q6 1074 16 given give VBN cord-014712-5u4e00q6 1074 17 , , , cord-014712-5u4e00q6 1074 18 her -PRON- PRP$ cord-014712-5u4e00q6 1074 19 symptoms symptom NNS cord-014712-5u4e00q6 1074 20 did do VBD cord-014712-5u4e00q6 1074 21 not not RB cord-014712-5u4e00q6 1074 22 improve improve VB cord-014712-5u4e00q6 1074 23 for for IN cord-014712-5u4e00q6 1074 24 2 2 CD cord-014712-5u4e00q6 1074 25 weeks week NNS cord-014712-5u4e00q6 1074 26 . . . cord-014712-5u4e00q6 1075 1 At at IN cord-014712-5u4e00q6 1075 2 the the DT cord-014712-5u4e00q6 1075 3 15th 15th JJ cord-014712-5u4e00q6 1075 4 day day NN cord-014712-5u4e00q6 1075 5 of of IN cord-014712-5u4e00q6 1075 6 admission admission NN cord-014712-5u4e00q6 1075 7 , , , cord-014712-5u4e00q6 1075 8 she -PRON- PRP cord-014712-5u4e00q6 1075 9 was be VBD cord-014712-5u4e00q6 1075 10 given give VBN cord-014712-5u4e00q6 1075 11 IVIG IVIG NNP cord-014712-5u4e00q6 1075 12 500mg 500mg NNP cord-014712-5u4e00q6 1075 13 / / SYM cord-014712-5u4e00q6 1075 14 kg kg NN cord-014712-5u4e00q6 1075 15 / / SYM cord-014712-5u4e00q6 1075 16 dose dose NN cord-014712-5u4e00q6 1075 17 . . . cord-014712-5u4e00q6 1076 1 Later later RB cord-014712-5u4e00q6 1076 2 , , , cord-014712-5u4e00q6 1076 3 her -PRON- PRP$ cord-014712-5u4e00q6 1076 4 respiratory respiratory JJ cord-014712-5u4e00q6 1076 5 system system NN cord-014712-5u4e00q6 1076 6 symptoms symptom NNS cord-014712-5u4e00q6 1076 7 did do VBD cord-014712-5u4e00q6 1076 8 not not RB cord-014712-5u4e00q6 1076 9 recur recur VB cord-014712-5u4e00q6 1076 10 for for IN cord-014712-5u4e00q6 1076 11 the the DT cord-014712-5u4e00q6 1076 12 last last JJ cord-014712-5u4e00q6 1076 13 several several JJ cord-014712-5u4e00q6 1076 14 months month NNS cord-014712-5u4e00q6 1076 15 . . . cord-014712-5u4e00q6 1077 1 Once once IN cord-014712-5u4e00q6 1077 2 she -PRON- PRP cord-014712-5u4e00q6 1077 3 was be VBD cord-014712-5u4e00q6 1077 4 evaluated evaluate VBN cord-014712-5u4e00q6 1077 5 for for IN cord-014712-5u4e00q6 1077 6 persistent persistent JJ cord-014712-5u4e00q6 1077 7 wheezing wheeze VBG cord-014712-5u4e00q6 1077 8 attacks attack NNS cord-014712-5u4e00q6 1077 9 during during IN cord-014712-5u4e00q6 1077 10 admission admission NN cord-014712-5u4e00q6 1077 11 , , , cord-014712-5u4e00q6 1077 12 biochemistry biochemistry NN cord-014712-5u4e00q6 1077 13 , , , cord-014712-5u4e00q6 1077 14 CBC CBC NNP cord-014712-5u4e00q6 1077 15 , , , cord-014712-5u4e00q6 1077 16 ESR ESR NNP cord-014712-5u4e00q6 1077 17 were be VBD cord-014712-5u4e00q6 1077 18 normal normal JJ cord-014712-5u4e00q6 1077 19 . . . cord-014712-5u4e00q6 1078 1 Chest chest NN cord-014712-5u4e00q6 1078 2 X x NN cord-014712-5u4e00q6 1078 3 - - NN cord-014712-5u4e00q6 1078 4 ray ray NN cord-014712-5u4e00q6 1078 5 and and CC cord-014712-5u4e00q6 1078 6 echography echography NN cord-014712-5u4e00q6 1078 7 were be VBD cord-014712-5u4e00q6 1078 8 normal normal JJ cord-014712-5u4e00q6 1078 9 . . . cord-014712-5u4e00q6 1079 1 In in IN cord-014712-5u4e00q6 1079 2 serological serological JJ cord-014712-5u4e00q6 1079 3 evaluation evaluation NN cord-014712-5u4e00q6 1079 4 : : : cord-014712-5u4e00q6 1079 5 low low JJ cord-014712-5u4e00q6 1079 6 IgG igg NN cord-014712-5u4e00q6 1079 7 level level NN cord-014712-5u4e00q6 1079 8 for for IN cord-014712-5u4e00q6 1079 9 his -PRON- PRP$ cord-014712-5u4e00q6 1079 10 age age NN cord-014712-5u4e00q6 1079 11 ( ( -LRB- cord-014712-5u4e00q6 1079 12 304 304 CD cord-014712-5u4e00q6 1079 13 mg mg NNP cord-014712-5u4e00q6 1079 14 / / SYM cord-014712-5u4e00q6 1079 15 dl dl NNP cord-014712-5u4e00q6 1079 16 ) ) -RRB- cord-014712-5u4e00q6 1079 17 was be VBD cord-014712-5u4e00q6 1079 18 detected detect VBN cord-014712-5u4e00q6 1079 19 at at IN cord-014712-5u4e00q6 1079 20 two two CD cord-014712-5u4e00q6 1079 21 different different JJ cord-014712-5u4e00q6 1079 22 times time NNS cord-014712-5u4e00q6 1079 23 . . . cord-014712-5u4e00q6 1080 1 IgG IgG NNP cord-014712-5u4e00q6 1080 2 subgroups subgroups NNP cord-014712-5u4e00q6 1080 3 , , , cord-014712-5u4e00q6 1080 4 IgM IgM NNP cord-014712-5u4e00q6 1080 5 ( ( -LRB- cord-014712-5u4e00q6 1080 6 106 106 CD cord-014712-5u4e00q6 1080 7 mg mg NNP cord-014712-5u4e00q6 1080 8 / / SYM cord-014712-5u4e00q6 1080 9 dl dl NNP cord-014712-5u4e00q6 1080 10 ) ) -RRB- cord-014712-5u4e00q6 1080 11 , , , cord-014712-5u4e00q6 1080 12 IgA IgA NNP cord-014712-5u4e00q6 1080 13 ( ( -LRB- cord-014712-5u4e00q6 1080 14 34 34 CD cord-014712-5u4e00q6 1080 15 mg mg NNP cord-014712-5u4e00q6 1080 16 / / SYM cord-014712-5u4e00q6 1080 17 dl dl NNP cord-014712-5u4e00q6 1080 18 ) ) -RRB- cord-014712-5u4e00q6 1080 19 and and CC cord-014712-5u4e00q6 1080 20 IgE IgE NNP cord-014712-5u4e00q6 1080 21 ( ( -LRB- cord-014712-5u4e00q6 1080 22 < < NNP cord-014712-5u4e00q6 1080 23 5 5 CD cord-014712-5u4e00q6 1080 24 ) ) -RRB- cord-014712-5u4e00q6 1080 25 levels level NNS cord-014712-5u4e00q6 1080 26 were be VBD cord-014712-5u4e00q6 1080 27 normal normal JJ cord-014712-5u4e00q6 1080 28 . . . cord-014712-5u4e00q6 1081 1 Case case NN cord-014712-5u4e00q6 1081 2 3 3 CD cord-014712-5u4e00q6 1081 3 : : : cord-014712-5u4e00q6 1082 1 20 20 CD cord-014712-5u4e00q6 1082 2 month month NN cord-014712-5u4e00q6 1082 3 - - HYPH cord-014712-5u4e00q6 1082 4 old old JJ cord-014712-5u4e00q6 1082 5 boy boy NN cord-014712-5u4e00q6 1082 6 was be VBD cord-014712-5u4e00q6 1082 7 brought bring VBN cord-014712-5u4e00q6 1082 8 to to IN cord-014712-5u4e00q6 1082 9 us -PRON- PRP cord-014712-5u4e00q6 1082 10 complaints complaint NNS cord-014712-5u4e00q6 1082 11 of of IN cord-014712-5u4e00q6 1082 12 having have VBG cord-014712-5u4e00q6 1082 13 frequent frequent JJ cord-014712-5u4e00q6 1082 14 lower low JJR cord-014712-5u4e00q6 1082 15 respiratory respiratory JJ cord-014712-5u4e00q6 1082 16 tract tract NN cord-014712-5u4e00q6 1082 17 infections infection NNS cord-014712-5u4e00q6 1082 18 ( ( -LRB- cord-014712-5u4e00q6 1082 19 bronchiolitis bronchiolitis NN cord-014712-5u4e00q6 1082 20 ) ) -RRB- cord-014712-5u4e00q6 1082 21 . . . cord-014712-5u4e00q6 1083 1 He -PRON- PRP cord-014712-5u4e00q6 1083 2 was be VBD cord-014712-5u4e00q6 1083 3 experiencing experience VBG cord-014712-5u4e00q6 1083 4 recurrent recurrent JJ cord-014712-5u4e00q6 1083 5 wheezing wheeze VBG cord-014712-5u4e00q6 1083 6 attacks attack NNS cord-014712-5u4e00q6 1083 7 almost almost RB cord-014712-5u4e00q6 1083 8 every every DT cord-014712-5u4e00q6 1083 9 other other JJ cord-014712-5u4e00q6 1083 10 week week NN cord-014712-5u4e00q6 1083 11 for for IN cord-014712-5u4e00q6 1083 12 the the DT cord-014712-5u4e00q6 1083 13 last last JJ cord-014712-5u4e00q6 1083 14 6 6 CD cord-014712-5u4e00q6 1083 15 months month NNS cord-014712-5u4e00q6 1083 16 . . . cord-014712-5u4e00q6 1084 1 In in IN cord-014712-5u4e00q6 1084 2 past past JJ cord-014712-5u4e00q6 1084 3 medical medical JJ cord-014712-5u4e00q6 1084 4 history history NN cord-014712-5u4e00q6 1084 5 , , , cord-014712-5u4e00q6 1084 6 he -PRON- PRP cord-014712-5u4e00q6 1084 7 was be VBD cord-014712-5u4e00q6 1084 8 diagnosed diagnose VBN cord-014712-5u4e00q6 1084 9 with with IN cord-014712-5u4e00q6 1084 10 trisomy trisomy NN cord-014712-5u4e00q6 1084 11 21 21 CD cord-014712-5u4e00q6 1084 12 and and CC cord-014712-5u4e00q6 1084 13 hypothyroidism hypothyroidism NN cord-014712-5u4e00q6 1084 14 at at IN cord-014712-5u4e00q6 1084 15 the the DT cord-014712-5u4e00q6 1084 16 3 3 CD cord-014712-5u4e00q6 1084 17 months month NNS cord-014712-5u4e00q6 1084 18 of of IN cord-014712-5u4e00q6 1084 19 age age NN cord-014712-5u4e00q6 1084 20 . . . cord-014712-5u4e00q6 1085 1 He -PRON- PRP cord-014712-5u4e00q6 1085 2 went go VBD cord-014712-5u4e00q6 1085 3 thru thru IN cord-014712-5u4e00q6 1085 4 an an DT cord-014712-5u4e00q6 1085 5 operation operation NN cord-014712-5u4e00q6 1085 6 for for IN cord-014712-5u4e00q6 1085 7 atrio atrio NNP cord-014712-5u4e00q6 1085 8 - - HYPH cord-014712-5u4e00q6 1085 9 venticular venticular NNP cord-014712-5u4e00q6 1085 10 septal septal JJ cord-014712-5u4e00q6 1085 11 defect defect NN cord-014712-5u4e00q6 1085 12 . . . cord-014712-5u4e00q6 1086 1 Physical physical JJ cord-014712-5u4e00q6 1086 2 exam exam NN cord-014712-5u4e00q6 1086 3 revealed reveal VBD cord-014712-5u4e00q6 1086 4 dyspnea dyspnea NN cord-014712-5u4e00q6 1086 5 , , , cord-014712-5u4e00q6 1086 6 tachypnea tachypnea NNP cord-014712-5u4e00q6 1086 7 and and CC cord-014712-5u4e00q6 1086 8 wheezing wheezing NN cord-014712-5u4e00q6 1086 9 . . . cord-014712-5u4e00q6 1087 1 Crackles crackle NNS cord-014712-5u4e00q6 1087 2 were be VBD cord-014712-5u4e00q6 1087 3 heard hear VBN cord-014712-5u4e00q6 1087 4 on on IN cord-014712-5u4e00q6 1087 5 the the DT cord-014712-5u4e00q6 1087 6 chest chest NN cord-014712-5u4e00q6 1087 7 auscultation auscultation NN cord-014712-5u4e00q6 1087 8 . . . cord-014712-5u4e00q6 1088 1 Abdominal abdominal JJ cord-014712-5u4e00q6 1088 2 , , , cord-014712-5u4e00q6 1088 3 cardio cardio NN cord-014712-5u4e00q6 1088 4 - - HYPH cord-014712-5u4e00q6 1088 5 vascular vascular JJ cord-014712-5u4e00q6 1088 6 and and CC cord-014712-5u4e00q6 1088 7 the the DT cord-014712-5u4e00q6 1088 8 rest rest NN cord-014712-5u4e00q6 1088 9 of of IN cord-014712-5u4e00q6 1088 10 the the DT cord-014712-5u4e00q6 1088 11 examination examination NN cord-014712-5u4e00q6 1088 12 were be VBD cord-014712-5u4e00q6 1088 13 normal normal JJ cord-014712-5u4e00q6 1088 14 . . . cord-014712-5u4e00q6 1089 1 When when WRB cord-014712-5u4e00q6 1089 2 he -PRON- PRP cord-014712-5u4e00q6 1089 3 was be VBD cord-014712-5u4e00q6 1089 4 evaluated evaluate VBN cord-014712-5u4e00q6 1089 5 for for IN cord-014712-5u4e00q6 1089 6 frequent frequent JJ cord-014712-5u4e00q6 1089 7 wheezing wheezing JJ cord-014712-5u4e00q6 1089 8 attacks attack NNS cord-014712-5u4e00q6 1089 9 in in IN cord-014712-5u4e00q6 1089 10 our -PRON- PRP$ cord-014712-5u4e00q6 1089 11 outpatient outpatient NN cord-014712-5u4e00q6 1089 12 clinic clinic NN cord-014712-5u4e00q6 1089 13 , , , cord-014712-5u4e00q6 1089 14 routine routine JJ cord-014712-5u4e00q6 1089 15 biochemistry biochemistry NN cord-014712-5u4e00q6 1089 16 , , , cord-014712-5u4e00q6 1089 17 CBC CBC NNP cord-014712-5u4e00q6 1089 18 and and CC cord-014712-5u4e00q6 1089 19 ESR ESR NNP cord-014712-5u4e00q6 1089 20 were be VBD cord-014712-5u4e00q6 1089 21 normal normal JJ cord-014712-5u4e00q6 1089 22 . . . cord-014712-5u4e00q6 1090 1 Chest chest NN cord-014712-5u4e00q6 1090 2 X x NN cord-014712-5u4e00q6 1090 3 - - NN cord-014712-5u4e00q6 1090 4 ray ray NN cord-014712-5u4e00q6 1090 5 showed show VBD cord-014712-5u4e00q6 1090 6 normal normal JJ cord-014712-5u4e00q6 1090 7 findings finding NNS cord-014712-5u4e00q6 1090 8 . . . cord-014712-5u4e00q6 1091 1 In in IN cord-014712-5u4e00q6 1091 2 serological serological JJ cord-014712-5u4e00q6 1091 3 evaluation evaluation NN cord-014712-5u4e00q6 1091 4 : : : cord-014712-5u4e00q6 1091 5 low low JJ cord-014712-5u4e00q6 1091 6 IgG igg NN cord-014712-5u4e00q6 1091 7 level level NN cord-014712-5u4e00q6 1091 8 for for IN cord-014712-5u4e00q6 1091 9 his -PRON- PRP$ cord-014712-5u4e00q6 1091 10 age age NN cord-014712-5u4e00q6 1091 11 ( ( -LRB- cord-014712-5u4e00q6 1091 12 300mg 300mg NNP cord-014712-5u4e00q6 1091 13 / / SYM cord-014712-5u4e00q6 1091 14 dl dl NNP cord-014712-5u4e00q6 1091 15 ) ) -RRB- cord-014712-5u4e00q6 1091 16 was be VBD cord-014712-5u4e00q6 1091 17 detected detect VBN cord-014712-5u4e00q6 1091 18 twice twice RB cord-014712-5u4e00q6 1091 19 . . . cord-014712-5u4e00q6 1092 1 IgG IgG NNP cord-014712-5u4e00q6 1092 2 subgroups subgroups NNP cord-014712-5u4e00q6 1092 3 , , , cord-014712-5u4e00q6 1092 4 IgM IgM NNP cord-014712-5u4e00q6 1092 5 , , , cord-014712-5u4e00q6 1092 6 IgA IgA NNP cord-014712-5u4e00q6 1092 7 and and CC cord-014712-5u4e00q6 1092 8 IgE IgE NNP cord-014712-5u4e00q6 1092 9 levels level NNS cord-014712-5u4e00q6 1092 10 were be VBD cord-014712-5u4e00q6 1092 11 within within IN cord-014712-5u4e00q6 1092 12 normal normal JJ cord-014712-5u4e00q6 1092 13 . . . cord-014712-5u4e00q6 1093 1 He -PRON- PRP cord-014712-5u4e00q6 1093 2 was be VBD cord-014712-5u4e00q6 1093 3 given give VBN cord-014712-5u4e00q6 1093 4 IVIG IVIG NNP cord-014712-5u4e00q6 1093 5 400mg 400mg NNP cord-014712-5u4e00q6 1093 6 / / SYM cord-014712-5u4e00q6 1093 7 kg kg NN cord-014712-5u4e00q6 1093 8 / / SYM cord-014712-5u4e00q6 1093 9 dose dose NN cord-014712-5u4e00q6 1093 10 . . . cord-014712-5u4e00q6 1094 1 For for IN cord-014712-5u4e00q6 1094 2 the the DT cord-014712-5u4e00q6 1094 3 last last JJ cord-014712-5u4e00q6 1094 4 three three CD cord-014712-5u4e00q6 1094 5 months month NNS cord-014712-5u4e00q6 1094 6 , , , cord-014712-5u4e00q6 1094 7 he -PRON- PRP cord-014712-5u4e00q6 1094 8 did do VBD cord-014712-5u4e00q6 1094 9 not not RB cord-014712-5u4e00q6 1094 10 have have VB cord-014712-5u4e00q6 1094 11 any any DT cord-014712-5u4e00q6 1094 12 lower low JJR cord-014712-5u4e00q6 1094 13 respiratory respiratory JJ cord-014712-5u4e00q6 1094 14 tract tract NN cord-014712-5u4e00q6 1094 15 infection infection NN cord-014712-5u4e00q6 1094 16 . . . cord-014712-5u4e00q6 1095 1 Conclusion conclusion NN cord-014712-5u4e00q6 1095 2 : : : cord-014712-5u4e00q6 1096 1 The the DT cord-014712-5u4e00q6 1096 2 awareness awareness NN cord-014712-5u4e00q6 1096 3 of of IN cord-014712-5u4e00q6 1096 4 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1096 5 among among IN cord-014712-5u4e00q6 1096 6 pediatricians pediatrician NNS cord-014712-5u4e00q6 1096 7 has have VBZ cord-014712-5u4e00q6 1096 8 been be VBN cord-014712-5u4e00q6 1096 9 greatly greatly RB cord-014712-5u4e00q6 1096 10 improved improve VBN cord-014712-5u4e00q6 1096 11 . . . cord-014712-5u4e00q6 1097 1 Recurrent recurrent JJ cord-014712-5u4e00q6 1097 2 respiratory respiratory JJ cord-014712-5u4e00q6 1097 3 tract tract NN cord-014712-5u4e00q6 1097 4 infections infection NNS cord-014712-5u4e00q6 1097 5 are be VBP cord-014712-5u4e00q6 1097 6 major major JJ cord-014712-5u4e00q6 1097 7 infections infection NNS cord-014712-5u4e00q6 1097 8 in in IN cord-014712-5u4e00q6 1097 9 these these DT cord-014712-5u4e00q6 1097 10 patients patient NNS cord-014712-5u4e00q6 1097 11 . . . cord-014712-5u4e00q6 1098 1 THI THI NNP cord-014712-5u4e00q6 1098 2 is be VBZ cord-014712-5u4e00q6 1098 3 a a DT cord-014712-5u4e00q6 1098 4 relatively relatively RB cord-014712-5u4e00q6 1098 5 common common JJ cord-014712-5u4e00q6 1098 6 condition condition NN cord-014712-5u4e00q6 1098 7 associated associate VBN cord-014712-5u4e00q6 1098 8 with with IN cord-014712-5u4e00q6 1098 9 infant infant NN cord-014712-5u4e00q6 1098 10 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 1098 11 . . . cord-014712-5u4e00q6 1099 1 In in IN cord-014712-5u4e00q6 1099 2 patients patient NNS cord-014712-5u4e00q6 1099 3 with with IN cord-014712-5u4e00q6 1099 4 recurrent recurrent JJ cord-014712-5u4e00q6 1099 5 and/or and/or CC cord-014712-5u4e00q6 1099 6 persistent persistent JJ cord-014712-5u4e00q6 1099 7 wheezing wheezing JJ cord-014712-5u4e00q6 1099 8 symptoms symptom NNS cord-014712-5u4e00q6 1099 9 during during IN cord-014712-5u4e00q6 1099 10 infancy infancy NN cord-014712-5u4e00q6 1099 11 and and CC cord-014712-5u4e00q6 1099 12 beyond beyond IN cord-014712-5u4e00q6 1099 13 , , , cord-014712-5u4e00q6 1099 14 especially especially RB cord-014712-5u4e00q6 1099 15 resistant resistant JJ cord-014712-5u4e00q6 1099 16 to to IN cord-014712-5u4e00q6 1099 17 therapy therapy NN cord-014712-5u4e00q6 1099 18 , , , cord-014712-5u4e00q6 1099 19 hypogammaglobulinemia hypogammaglobulinemia NNP cord-014712-5u4e00q6 1099 20 should should MD cord-014712-5u4e00q6 1099 21 be be VB cord-014712-5u4e00q6 1099 22 excluded exclude VBN cord-014712-5u4e00q6 1099 23 from from IN cord-014712-5u4e00q6 1099 24 possible possible JJ cord-014712-5u4e00q6 1099 25 diagnoses diagnosis NNS cord-014712-5u4e00q6 1099 26 . . . cord-014712-5u4e00q6 1100 1 Background background NN cord-014712-5u4e00q6 1100 2 : : : cord-014712-5u4e00q6 1101 1 The the DT cord-014712-5u4e00q6 1101 2 acquisition acquisition NN cord-014712-5u4e00q6 1101 3 of of IN cord-014712-5u4e00q6 1101 4 new new JJ cord-014712-5u4e00q6 1101 5 food food NN cord-014712-5u4e00q6 1101 6 allergy allergy NN cord-014712-5u4e00q6 1101 7 after after IN cord-014712-5u4e00q6 1101 8 transplantation transplantation NN cord-014712-5u4e00q6 1101 9 or or CC cord-014712-5u4e00q6 1101 10 transplant transplant NN cord-014712-5u4e00q6 1101 11 - - HYPH cord-014712-5u4e00q6 1101 12 acquired acquire VBN cord-014712-5u4e00q6 1101 13 food food NN cord-014712-5u4e00q6 1101 14 allergy allergy NN cord-014712-5u4e00q6 1101 15 ( ( -LRB- cord-014712-5u4e00q6 1101 16 TAFA TAFA NNP cord-014712-5u4e00q6 1101 17 ) ) -RRB- cord-014712-5u4e00q6 1101 18 is be VBZ cord-014712-5u4e00q6 1101 19 usually usually RB cord-014712-5u4e00q6 1101 20 reported report VBN cord-014712-5u4e00q6 1101 21 in in IN cord-014712-5u4e00q6 1101 22 adults adult NNS cord-014712-5u4e00q6 1101 23 and and CC cord-014712-5u4e00q6 1101 24 rarely rarely RB cord-014712-5u4e00q6 1101 25 in in IN cord-014712-5u4e00q6 1101 26 children child NNS cord-014712-5u4e00q6 1101 27 . . . cord-014712-5u4e00q6 1102 1 TAFA TAFA NNP cord-014712-5u4e00q6 1102 2 is be VBZ cord-014712-5u4e00q6 1102 3 described describe VBN cord-014712-5u4e00q6 1102 4 mainly mainly RB cord-014712-5u4e00q6 1102 5 after after IN cord-014712-5u4e00q6 1102 6 liver liver NN cord-014712-5u4e00q6 1102 7 , , , cord-014712-5u4e00q6 1102 8 but but CC cord-014712-5u4e00q6 1102 9 also also RB cord-014712-5u4e00q6 1102 10 after after IN cord-014712-5u4e00q6 1102 11 small small JJ cord-014712-5u4e00q6 1102 12 bowel bowel NN cord-014712-5u4e00q6 1102 13 / / SYM cord-014712-5u4e00q6 1102 14 intestinal intestinal JJ cord-014712-5u4e00q6 1102 15 , , , cord-014712-5u4e00q6 1102 16 lung lung NN cord-014712-5u4e00q6 1102 17 and and CC cord-014712-5u4e00q6 1102 18 heart heart NN cord-014712-5u4e00q6 1102 19 transplantations transplantation NNS cord-014712-5u4e00q6 1102 20 . . . cord-014712-5u4e00q6 1103 1 In in IN cord-014712-5u4e00q6 1103 2 different different JJ cord-014712-5u4e00q6 1103 3 studies study NNS cord-014712-5u4e00q6 1103 4 , , , cord-014712-5u4e00q6 1103 5 the the DT cord-014712-5u4e00q6 1103 6 male male JJ cord-014712-5u4e00q6 1103 7 / / SYM cord-014712-5u4e00q6 1103 8 female female JJ cord-014712-5u4e00q6 1103 9 ratio ratio NN cord-014712-5u4e00q6 1103 10 is be VBZ cord-014712-5u4e00q6 1103 11 equal equal JJ cord-014712-5u4e00q6 1103 12 . . . cord-014712-5u4e00q6 1104 1 Literature literature NN cord-014712-5u4e00q6 1104 2 data datum NNS cord-014712-5u4e00q6 1104 3 suggest suggest VBP cord-014712-5u4e00q6 1104 4 that that IN cord-014712-5u4e00q6 1104 5 children child NNS cord-014712-5u4e00q6 1104 6 with with IN cord-014712-5u4e00q6 1104 7 TAFA TAFA NNP cord-014712-5u4e00q6 1104 8 typically typically RB cord-014712-5u4e00q6 1104 9 present present VBP cord-014712-5u4e00q6 1104 10 within within IN cord-014712-5u4e00q6 1104 11 the the DT cord-014712-5u4e00q6 1104 12 first first JJ cord-014712-5u4e00q6 1104 13 year year NN cord-014712-5u4e00q6 1104 14 after after IN cord-014712-5u4e00q6 1104 15 surgery surgery NN cord-014712-5u4e00q6 1105 1 and and CC cord-014712-5u4e00q6 1105 2 they -PRON- PRP cord-014712-5u4e00q6 1105 3 are be VBP cord-014712-5u4e00q6 1105 4 typically typically RB cord-014712-5u4e00q6 1105 5 allergic allergic JJ cord-014712-5u4e00q6 1105 6 to to IN cord-014712-5u4e00q6 1105 7 multiple multiple JJ cord-014712-5u4e00q6 1105 8 foods food NNS cord-014712-5u4e00q6 1105 9 . . . cord-014712-5u4e00q6 1106 1 Aim aim VB cord-014712-5u4e00q6 1106 2 : : : cord-014712-5u4e00q6 1107 1 TAFA TAFA NNP cord-014712-5u4e00q6 1107 2 is be VBZ cord-014712-5u4e00q6 1107 3 generally generally RB cord-014712-5u4e00q6 1107 4 characterized characterize VBN cord-014712-5u4e00q6 1107 5 with with IN cord-014712-5u4e00q6 1107 6 allergy allergy NN cord-014712-5u4e00q6 1107 7 to to IN cord-014712-5u4e00q6 1107 8 multiple multiple JJ cord-014712-5u4e00q6 1107 9 foods food NNS cord-014712-5u4e00q6 1107 10 and and CC cord-014712-5u4e00q6 1107 11 increased increase VBN cord-014712-5u4e00q6 1107 12 level level NN cord-014712-5u4e00q6 1107 13 of of IN cord-014712-5u4e00q6 1107 14 total total NN cord-014712-5u4e00q6 1107 15 and/or and/or CC cord-014712-5u4e00q6 1107 16 spesific spesific JJ cord-014712-5u4e00q6 1107 17 IgE. ige. NN cord-014712-5u4e00q6 1108 1 Here here RB cord-014712-5u4e00q6 1108 2 , , , cord-014712-5u4e00q6 1108 3 a a DT cord-014712-5u4e00q6 1108 4 patient patient NN cord-014712-5u4e00q6 1109 1 although although IN cord-014712-5u4e00q6 1109 2 who who WP cord-014712-5u4e00q6 1109 3 had have VBD cord-014712-5u4e00q6 1109 4 normal normal JJ cord-014712-5u4e00q6 1109 5 total total NN cord-014712-5u4e00q6 1109 6 . . . cord-014712-5u4e00q6 1110 1 IgE IgE NNP cord-014712-5u4e00q6 1110 2 and and CC cord-014712-5u4e00q6 1110 3 specific specific NNP cord-014712-5u4e00q6 1110 4 IgE IgE NNP cord-014712-5u4e00q6 1110 5 test test NN cord-014712-5u4e00q6 1110 6 results result NNS cord-014712-5u4e00q6 1110 7 , , , cord-014712-5u4e00q6 1110 8 he -PRON- PRP cord-014712-5u4e00q6 1110 9 developed develop VBD cord-014712-5u4e00q6 1110 10 reaction reaction NN cord-014712-5u4e00q6 1110 11 to to IN cord-014712-5u4e00q6 1110 12 skin skin NN cord-014712-5u4e00q6 1110 13 prick prick NN cord-014712-5u4e00q6 1110 14 test test NN cord-014712-5u4e00q6 1110 15 for for IN cord-014712-5u4e00q6 1110 16 cow cow NN cord-014712-5u4e00q6 1110 17 's 's POS cord-014712-5u4e00q6 1110 18 milk milk NN cord-014712-5u4e00q6 1110 19 is be VBZ cord-014712-5u4e00q6 1110 20 presented present VBN cord-014712-5u4e00q6 1110 21 and and CC cord-014712-5u4e00q6 1110 22 his -PRON- PRP$ cord-014712-5u4e00q6 1110 23 clinical clinical JJ cord-014712-5u4e00q6 1110 24 presentation presentation NN cord-014712-5u4e00q6 1110 25 will will MD cord-014712-5u4e00q6 1110 26 be be VB cord-014712-5u4e00q6 1110 27 discussed discuss VBN cord-014712-5u4e00q6 1110 28 . . . cord-014712-5u4e00q6 1111 1 Case case NN cord-014712-5u4e00q6 1111 2 presentation presentation NN cord-014712-5u4e00q6 1111 3 : : : cord-014712-5u4e00q6 1112 1 15 15 CD cord-014712-5u4e00q6 1112 2 month month NN cord-014712-5u4e00q6 1112 3 - - HYPH cord-014712-5u4e00q6 1112 4 old old JJ cord-014712-5u4e00q6 1112 5 - - HYPH cord-014712-5u4e00q6 1112 6 boy boy NN cord-014712-5u4e00q6 1112 7 came come VBD cord-014712-5u4e00q6 1112 8 to to IN cord-014712-5u4e00q6 1112 9 our -PRON- PRP$ cord-014712-5u4e00q6 1112 10 allergy allergy NN cord-014712-5u4e00q6 1112 11 clinic clinic NN cord-014712-5u4e00q6 1112 12 with with IN cord-014712-5u4e00q6 1112 13 complaints complaint NNS cord-014712-5u4e00q6 1112 14 of of IN cord-014712-5u4e00q6 1112 15 vomiting vomit VBG cord-014712-5u4e00q6 1112 16 after after IN cord-014712-5u4e00q6 1112 17 drinking drink VBG cord-014712-5u4e00q6 1112 18 cow cow NN cord-014712-5u4e00q6 1112 19 's 's POS cord-014712-5u4e00q6 1112 20 milk milk NN cord-014712-5u4e00q6 1112 21 and and CC cord-014712-5u4e00q6 1112 22 skin skin NN cord-014712-5u4e00q6 1112 23 rush rush NN cord-014712-5u4e00q6 1112 24 on on IN cord-014712-5u4e00q6 1112 25 the the DT cord-014712-5u4e00q6 1112 26 area area NN cord-014712-5u4e00q6 1112 27 where where WRB cord-014712-5u4e00q6 1112 28 contact contact NN cord-014712-5u4e00q6 1112 29 ed ed NN cord-014712-5u4e00q6 1112 30 with with IN cord-014712-5u4e00q6 1112 31 chocolate chocolate NN cord-014712-5u4e00q6 1112 32 . . . cord-014712-5u4e00q6 1113 1 In in IN cord-014712-5u4e00q6 1113 2 his -PRON- PRP$ cord-014712-5u4e00q6 1113 3 past past JJ cord-014712-5u4e00q6 1113 4 medical medical JJ cord-014712-5u4e00q6 1113 5 histroy histroy NN cord-014712-5u4e00q6 1113 6 , , , cord-014712-5u4e00q6 1113 7 left leave VBD cord-014712-5u4e00q6 1113 8 lateral lateral JJ cord-014712-5u4e00q6 1113 9 segment segment NN cord-014712-5u4e00q6 1113 10 of of IN cord-014712-5u4e00q6 1113 11 liver liver NN cord-014712-5u4e00q6 1113 12 ( ( -LRB- cord-014712-5u4e00q6 1113 13 donor donor NN cord-014712-5u4e00q6 1113 14 was be VBD cord-014712-5u4e00q6 1113 15 his -PRON- PRP$ cord-014712-5u4e00q6 1113 16 mother mother NN cord-014712-5u4e00q6 1113 17 ) ) -RRB- cord-014712-5u4e00q6 1113 18 was be VBD cord-014712-5u4e00q6 1113 19 transplanted transplant VBN cord-014712-5u4e00q6 1113 20 to to IN cord-014712-5u4e00q6 1113 21 him -PRON- PRP cord-014712-5u4e00q6 1113 22 when when WRB cord-014712-5u4e00q6 1113 23 he -PRON- PRP cord-014712-5u4e00q6 1113 24 was be VBD cord-014712-5u4e00q6 1113 25 at at IN cord-014712-5u4e00q6 1113 26 5 5 CD cord-014712-5u4e00q6 1113 27 months month NNS cord-014712-5u4e00q6 1113 28 . . . cord-014712-5u4e00q6 1114 1 The the DT cord-014712-5u4e00q6 1114 2 liver liver NN cord-014712-5u4e00q6 1114 3 donor donor NN cord-014712-5u4e00q6 1114 4 was be VBD cord-014712-5u4e00q6 1114 5 not not RB cord-014712-5u4e00q6 1114 6 recorded record VBN cord-014712-5u4e00q6 1114 7 as as IN cord-014712-5u4e00q6 1114 8 having have VBG cord-014712-5u4e00q6 1114 9 a a DT cord-014712-5u4e00q6 1114 10 history history NN cord-014712-5u4e00q6 1114 11 of of IN cord-014712-5u4e00q6 1114 12 allergic allergic JJ cord-014712-5u4e00q6 1114 13 disease disease NN cord-014712-5u4e00q6 1114 14 . . . cord-014712-5u4e00q6 1115 1 Methylprednisolone Methylprednisolone NNP cord-014712-5u4e00q6 1115 2 and and CC cord-014712-5u4e00q6 1115 3 tacrolimus tacrolimus NN cord-014712-5u4e00q6 1115 4 immunosuppression immunosuppression NN cord-014712-5u4e00q6 1115 5 were be VBD cord-014712-5u4e00q6 1115 6 used use VBN cord-014712-5u4e00q6 1115 7 after after IN cord-014712-5u4e00q6 1115 8 the the DT cord-014712-5u4e00q6 1115 9 transplantation transplantation NN cord-014712-5u4e00q6 1115 10 , , , cord-014712-5u4e00q6 1115 11 and and CC cord-014712-5u4e00q6 1115 12 tacrolimus tacrolimus NN cord-014712-5u4e00q6 1115 13 therapy therapy NN cord-014712-5u4e00q6 1115 14 was be VBD cord-014712-5u4e00q6 1115 15 continued continue VBN cord-014712-5u4e00q6 1115 16 for for IN cord-014712-5u4e00q6 1115 17 prophylaxis prophylaxis NN cord-014712-5u4e00q6 1115 18 of of IN cord-014712-5u4e00q6 1115 19 chronic chronic JJ cord-014712-5u4e00q6 1115 20 rejection rejection NN cord-014712-5u4e00q6 1115 21 . . . cord-014712-5u4e00q6 1116 1 When when WRB cord-014712-5u4e00q6 1116 2 he -PRON- PRP cord-014712-5u4e00q6 1116 3 was be VBD cord-014712-5u4e00q6 1116 4 at at IN cord-014712-5u4e00q6 1116 5 7 7 CD cord-014712-5u4e00q6 1116 6 months month NNS cord-014712-5u4e00q6 1116 7 , , , cord-014712-5u4e00q6 1116 8 family family NN cord-014712-5u4e00q6 1116 9 fed feed VBD cord-014712-5u4e00q6 1116 10 the the DT cord-014712-5u4e00q6 1116 11 patient patient NN cord-014712-5u4e00q6 1116 12 with with IN cord-014712-5u4e00q6 1116 13 cow cow NN cord-014712-5u4e00q6 1116 14 's 's POS cord-014712-5u4e00q6 1116 15 milk milk NN cord-014712-5u4e00q6 1116 16 but but CC cord-014712-5u4e00q6 1116 17 3 3 CD cord-014712-5u4e00q6 1116 18 hours hour NNS cord-014712-5u4e00q6 1116 19 later later RBR cord-014712-5u4e00q6 1116 20 he -PRON- PRP cord-014712-5u4e00q6 1116 21 began begin VBD cord-014712-5u4e00q6 1116 22 to to TO cord-014712-5u4e00q6 1116 23 vomit vomit VB cord-014712-5u4e00q6 1116 24 . . . cord-014712-5u4e00q6 1117 1 He -PRON- PRP cord-014712-5u4e00q6 1117 2 vomited vomit VBD cord-014712-5u4e00q6 1117 3 five five CD cord-014712-5u4e00q6 1117 4 times time NNS cord-014712-5u4e00q6 1117 5 in in IN cord-014712-5u4e00q6 1117 6 two two CD cord-014712-5u4e00q6 1117 7 hours hour NNS cord-014712-5u4e00q6 1117 8 . . . cord-014712-5u4e00q6 1118 1 Then then RB cord-014712-5u4e00q6 1118 2 , , , cord-014712-5u4e00q6 1118 3 he -PRON- PRP cord-014712-5u4e00q6 1118 4 developed develop VBD cord-014712-5u4e00q6 1118 5 constipation constipation NN cord-014712-5u4e00q6 1118 6 . . . cord-014712-5u4e00q6 1119 1 Rectal rectal JJ cord-014712-5u4e00q6 1119 2 irrigation irrigation NN cord-014712-5u4e00q6 1119 3 was be VBD cord-014712-5u4e00q6 1119 4 used use VBN cord-014712-5u4e00q6 1119 5 . . . cord-014712-5u4e00q6 1120 1 Then then RB cord-014712-5u4e00q6 1120 2 oral oral JJ cord-014712-5u4e00q6 1120 3 intake intake NN cord-014712-5u4e00q6 1120 4 stopped stop VBD cord-014712-5u4e00q6 1120 5 for for IN cord-014712-5u4e00q6 1120 6 two two CD cord-014712-5u4e00q6 1120 7 days day NNS cord-014712-5u4e00q6 1120 8 . . . cord-014712-5u4e00q6 1121 1 He -PRON- PRP cord-014712-5u4e00q6 1121 2 was be VBD cord-014712-5u4e00q6 1121 3 thought think VBN cord-014712-5u4e00q6 1121 4 to to TO cord-014712-5u4e00q6 1121 5 be be VB cord-014712-5u4e00q6 1121 6 having have VBG cord-014712-5u4e00q6 1121 7 food food NN cord-014712-5u4e00q6 1121 8 protein protein NN cord-014712-5u4e00q6 1121 9 induced induce VBN cord-014712-5u4e00q6 1121 10 enterocolitis enterocolitis NN cord-014712-5u4e00q6 1121 11 . . . cord-014712-5u4e00q6 1122 1 His -PRON- PRP$ cord-014712-5u4e00q6 1122 2 vomiting vomiting NN cord-014712-5u4e00q6 1122 3 complaints complaint NNS cord-014712-5u4e00q6 1122 4 repeated repeat VBN cord-014712-5u4e00q6 1122 5 after after IN cord-014712-5u4e00q6 1122 6 intake intake NN cord-014712-5u4e00q6 1122 7 of of IN cord-014712-5u4e00q6 1122 8 formula formula NN cord-014712-5u4e00q6 1122 9 and and CC cord-014712-5u4e00q6 1122 10 baby baby NN cord-014712-5u4e00q6 1122 11 food food NN cord-014712-5u4e00q6 1122 12 which which WDT cord-014712-5u4e00q6 1122 13 include include VBP cord-014712-5u4e00q6 1122 14 grain grain NN cord-014712-5u4e00q6 1122 15 . . . cord-014712-5u4e00q6 1123 1 So so RB cord-014712-5u4e00q6 1123 2 he -PRON- PRP cord-014712-5u4e00q6 1123 3 fed feed VBD cord-014712-5u4e00q6 1123 4 with with IN cord-014712-5u4e00q6 1123 5 special special JJ cord-014712-5u4e00q6 1123 6 formula formula NN cord-014712-5u4e00q6 1123 7 including include VBG cord-014712-5u4e00q6 1123 8 short short JJ cord-014712-5u4e00q6 1123 9 - - HYPH cord-014712-5u4e00q6 1123 10 chain chain NN cord-014712-5u4e00q6 1123 11 peptides peptide NNS cord-014712-5u4e00q6 1123 12 and and CC cord-014712-5u4e00q6 1123 13 free free JJ cord-014712-5u4e00q6 1123 14 aminoacids aminoacid NNS cord-014712-5u4e00q6 1123 15 and and CC cord-014712-5u4e00q6 1123 16 his -PRON- PRP$ cord-014712-5u4e00q6 1123 17 symptoms symptom NNS cord-014712-5u4e00q6 1123 18 improved improve VBD cord-014712-5u4e00q6 1123 19 . . . cord-014712-5u4e00q6 1124 1 Past past JJ cord-014712-5u4e00q6 1124 2 medical medical JJ cord-014712-5u4e00q6 1124 3 history history NN cord-014712-5u4e00q6 1124 4 : : : cord-014712-5u4e00q6 1124 5 Extrahepatic extrahepatic JJ cord-014712-5u4e00q6 1124 6 biliary biliary JJ cord-014712-5u4e00q6 1124 7 atresia atresia NN cord-014712-5u4e00q6 1124 8 was be VBD cord-014712-5u4e00q6 1124 9 diagnosed diagnose VBN cord-014712-5u4e00q6 1124 10 at at IN cord-014712-5u4e00q6 1124 11 3 3 CD cord-014712-5u4e00q6 1124 12 weeks week NNS cord-014712-5u4e00q6 1124 13 age age NN cord-014712-5u4e00q6 1124 14 with with IN cord-014712-5u4e00q6 1124 15 conjugated conjugate VBN cord-014712-5u4e00q6 1124 16 hyperbilirubinemia hyperbilirubinemia NNP cord-014712-5u4e00q6 1124 17 ( ( -LRB- cord-014712-5u4e00q6 1124 18 according accord VBG cord-014712-5u4e00q6 1124 19 to to IN cord-014712-5u4e00q6 1124 20 scintigraphy scintigraphy NN cord-014712-5u4e00q6 1124 21 and and CC cord-014712-5u4e00q6 1124 22 biopsy biopsy NN cord-014712-5u4e00q6 1124 23 results result NNS cord-014712-5u4e00q6 1124 24 ) ) -RRB- cord-014712-5u4e00q6 1124 25 . . . cord-014712-5u4e00q6 1125 1 Family family NN cord-014712-5u4e00q6 1125 2 history history NN cord-014712-5u4e00q6 1125 3 : : : cord-014712-5u4e00q6 1126 1 His -PRON- PRP$ cord-014712-5u4e00q6 1126 2 father father NN cord-014712-5u4e00q6 1126 3 has have VBZ cord-014712-5u4e00q6 1126 4 penicillin penicillin NN cord-014712-5u4e00q6 1126 5 allergy allergy NN cord-014712-5u4e00q6 1126 6 and and CC cord-014712-5u4e00q6 1126 7 his -PRON- PRP$ cord-014712-5u4e00q6 1126 8 aunt aunt NN cord-014712-5u4e00q6 1126 9 has have VBZ cord-014712-5u4e00q6 1126 10 asthma asthma NN cord-014712-5u4e00q6 1126 11 . . . cord-014712-5u4e00q6 1127 1 At at IN cord-014712-5u4e00q6 1127 2 our -PRON- PRP$ cord-014712-5u4e00q6 1127 3 outpatient outpatient NN cord-014712-5u4e00q6 1127 4 clinic clinic NN cord-014712-5u4e00q6 1127 5 : : : cord-014712-5u4e00q6 1127 6 Height height NN cord-014712-5u4e00q6 1127 7 and and CC cord-014712-5u4e00q6 1127 8 weight weight NN cord-014712-5u4e00q6 1127 9 were be VBD cord-014712-5u4e00q6 1127 10 within within IN cord-014712-5u4e00q6 1127 11 normal normal JJ cord-014712-5u4e00q6 1127 12 percentiles percentile NNS cord-014712-5u4e00q6 1127 13 . . . cord-014712-5u4e00q6 1128 1 Physical physical JJ cord-014712-5u4e00q6 1128 2 examination examination NN cord-014712-5u4e00q6 1128 3 reevaled reevale VBD cord-014712-5u4e00q6 1128 4 normal normal JJ cord-014712-5u4e00q6 1128 5 examination examination NN cord-014712-5u4e00q6 1128 6 findings finding NNS cord-014712-5u4e00q6 1128 7 . . . cord-014712-5u4e00q6 1129 1 Laboratory laboratory NN cord-014712-5u4e00q6 1129 2 findings finding NNS cord-014712-5u4e00q6 1129 3 : : : cord-014712-5u4e00q6 1130 1 WBC WBC NNP cord-014712-5u4e00q6 1130 2 was be VBD cord-014712-5u4e00q6 1130 3 4.420 4.420 CD cord-014712-5u4e00q6 1130 4 / / SYM cord-014712-5u4e00q6 1130 5 mm3 mm3 NNS cord-014712-5u4e00q6 1130 6 , , , cord-014712-5u4e00q6 1130 7 with with IN cord-014712-5u4e00q6 1130 8 21 21 CD cord-014712-5u4e00q6 1130 9 % % NN cord-014712-5u4e00q6 1130 10 neutrophils neutrophil NNS cord-014712-5u4e00q6 1130 11 , , , cord-014712-5u4e00q6 1130 12 6 6 CD cord-014712-5u4e00q6 1130 13 % % NN cord-014712-5u4e00q6 1130 14 eosinophils eosinophil NNS cord-014712-5u4e00q6 1130 15 and and CC cord-014712-5u4e00q6 1130 16 69 69 CD cord-014712-5u4e00q6 1130 17 % % NN cord-014712-5u4e00q6 1130 18 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 1130 19 . . . cord-014712-5u4e00q6 1131 1 His -PRON- PRP$ cord-014712-5u4e00q6 1131 2 hemoglobin hemoglobin NN cord-014712-5u4e00q6 1131 3 was be VBD cord-014712-5u4e00q6 1131 4 8.2 8.2 CD cord-014712-5u4e00q6 1131 5 g/ g/ JJ cord-014712-5u4e00q6 1131 6 dL dl NN cord-014712-5u4e00q6 1131 7 , , , cord-014712-5u4e00q6 1131 8 platelet platelet NN cord-014712-5u4e00q6 1131 9 count count NN cord-014712-5u4e00q6 1131 10 was be VBD cord-014712-5u4e00q6 1131 11 280.000 280.000 CD cord-014712-5u4e00q6 1131 12 / / SYM cord-014712-5u4e00q6 1131 13 mm3 mm3 NNS cord-014712-5u4e00q6 1131 14 . . . cord-014712-5u4e00q6 1132 1 Total total JJ cord-014712-5u4e00q6 1132 2 IgE IgE NNP cord-014712-5u4e00q6 1132 3 : : : cord-014712-5u4e00q6 1132 4 < < NNP cord-014712-5u4e00q6 1132 5 5 5 CD cord-014712-5u4e00q6 1132 6 and and CC cord-014712-5u4e00q6 1132 7 ImmunoCAP ImmunoCAP NNP cord-014712-5u4e00q6 1132 8 specific specific JJ cord-014712-5u4e00q6 1132 9 IgE IgE NNP cord-014712-5u4e00q6 1132 10 against against IN cord-014712-5u4e00q6 1132 11 milk milk NN cord-014712-5u4e00q6 1132 12 , , , cord-014712-5u4e00q6 1132 13 grain grain NN cord-014712-5u4e00q6 1132 14 and and CC cord-014712-5u4e00q6 1132 15 other other JJ cord-014712-5u4e00q6 1132 16 classsic classsic JJ cord-014712-5u4e00q6 1132 17 foods food NNS cord-014712-5u4e00q6 1132 18 was be VBD cord-014712-5u4e00q6 1132 19 < < XX cord-014712-5u4e00q6 1132 20 0.35 0.35 CD cord-014712-5u4e00q6 1132 21 . . . cord-014712-5u4e00q6 1133 1 Skin skin NN cord-014712-5u4e00q6 1133 2 prick prick NN cord-014712-5u4e00q6 1133 3 test test NN cord-014712-5u4e00q6 1133 4 results result NNS cord-014712-5u4e00q6 1133 5 : : : cord-014712-5u4e00q6 1133 6 saline saline NN cord-014712-5u4e00q6 1133 7 : : : cord-014712-5u4e00q6 1133 8 0x0 0x0 CD cord-014712-5u4e00q6 1133 9 mm mm NN cord-014712-5u4e00q6 1133 10 , , , cord-014712-5u4e00q6 1133 11 histamine histamine NN cord-014712-5u4e00q6 1133 12 4x4 4x4 CD cord-014712-5u4e00q6 1133 13 mm mm NN cord-014712-5u4e00q6 1133 14 , , , cord-014712-5u4e00q6 1133 15 fresh fresh JJ cord-014712-5u4e00q6 1133 16 cow cow NN cord-014712-5u4e00q6 1133 17 's 's POS cord-014712-5u4e00q6 1133 18 milk:2x2 milk:2x2 NN cord-014712-5u4e00q6 1133 19 mm mm NNP cord-014712-5u4e00q6 1133 20 , , , cord-014712-5u4e00q6 1133 21 other other JJ cord-014712-5u4e00q6 1133 22 food food NN cord-014712-5u4e00q6 1133 23 allergens allergen NNS cord-014712-5u4e00q6 1133 24 ( ( -LRB- cord-014712-5u4e00q6 1133 25 peanut peanut NN cord-014712-5u4e00q6 1133 26 , , , cord-014712-5u4e00q6 1133 27 egg egg NN cord-014712-5u4e00q6 1133 28 , , , cord-014712-5u4e00q6 1133 29 fish fish NN cord-014712-5u4e00q6 1133 30 , , , cord-014712-5u4e00q6 1133 31 soybean soybean NN cord-014712-5u4e00q6 1133 32 , , , cord-014712-5u4e00q6 1133 33 wheat wheat NN cord-014712-5u4e00q6 1133 34 ) ) -RRB- cord-014712-5u4e00q6 1133 35 : : : cord-014712-5u4e00q6 1133 36 0x0 0x0 CD cord-014712-5u4e00q6 1133 37 mm mm NN cord-014712-5u4e00q6 1133 38 . . . cord-014712-5u4e00q6 1134 1 Conclusion conclusion NN cord-014712-5u4e00q6 1134 2 : : : cord-014712-5u4e00q6 1135 1 Our -PRON- PRP$ cord-014712-5u4e00q6 1135 2 patient patient NN cord-014712-5u4e00q6 1135 3 seemed seem VBD cord-014712-5u4e00q6 1135 4 to to TO cord-014712-5u4e00q6 1135 5 have have VB cord-014712-5u4e00q6 1135 6 cow cow NN cord-014712-5u4e00q6 1135 7 's 's POS cord-014712-5u4e00q6 1135 8 milk milk NN cord-014712-5u4e00q6 1135 9 allergy allergy NN cord-014712-5u4e00q6 1135 10 related relate VBN cord-014712-5u4e00q6 1135 11 to to IN cord-014712-5u4e00q6 1135 12 liver liver NN cord-014712-5u4e00q6 1135 13 transplantation transplantation NN cord-014712-5u4e00q6 1135 14 . . . cord-014712-5u4e00q6 1136 1 Laboratory laboratory NN cord-014712-5u4e00q6 1136 2 investigations investigation NNS cord-014712-5u4e00q6 1136 3 and and CC cord-014712-5u4e00q6 1136 4 clinical clinical JJ cord-014712-5u4e00q6 1136 5 presentation presentation NN cord-014712-5u4e00q6 1136 6 of of IN cord-014712-5u4e00q6 1136 7 the the DT cord-014712-5u4e00q6 1136 8 patient patient NN cord-014712-5u4e00q6 1136 9 did do VBD cord-014712-5u4e00q6 1136 10 not not RB cord-014712-5u4e00q6 1136 11 look look VB cord-014712-5u4e00q6 1136 12 like like IN cord-014712-5u4e00q6 1136 13 typical typical JJ cord-014712-5u4e00q6 1136 14 IgE ige NN cord-014712-5u4e00q6 1136 15 - - HYPH cord-014712-5u4e00q6 1136 16 mediated mediate VBN cord-014712-5u4e00q6 1136 17 food food NN cord-014712-5u4e00q6 1136 18 allergy allergy NN cord-014712-5u4e00q6 1136 19 , , , cord-014712-5u4e00q6 1136 20 which which WDT cord-014712-5u4e00q6 1136 21 is be VBZ cord-014712-5u4e00q6 1136 22 expected expect VBN cord-014712-5u4e00q6 1136 23 in in IN cord-014712-5u4e00q6 1136 24 TAFA TAFA NNP cord-014712-5u4e00q6 1136 25 . . . cord-014712-5u4e00q6 1136 26 _SP cord-014712-5u4e00q6 1137 1 Patient patient JJ cord-014712-5u4e00q6 1137 2 History history NN cord-014712-5u4e00q6 1137 3 : : : cord-014712-5u4e00q6 1137 4 33 33 CD cord-014712-5u4e00q6 1137 5 years year NNS cord-014712-5u4e00q6 1137 6 old old JJ cord-014712-5u4e00q6 1137 7 male male JJ cord-014712-5u4e00q6 1137 8 patient patient NN cord-014712-5u4e00q6 1137 9 , , . cord-014712-5u4e00q6 1138 1 The the DT cord-014712-5u4e00q6 1138 2 first first JJ cord-014712-5u4e00q6 1138 3 pneumonia pneumonia NN cord-014712-5u4e00q6 1138 4 at at IN cord-014712-5u4e00q6 1138 5 the the DT cord-014712-5u4e00q6 1138 6 age age NN cord-014712-5u4e00q6 1138 7 of of IN cord-014712-5u4e00q6 1138 8 18 18 CD cord-014712-5u4e00q6 1138 9 followed follow VBN cord-014712-5u4e00q6 1138 10 by by IN cord-014712-5u4e00q6 1138 11 3 3 CD cord-014712-5u4e00q6 1138 12 times time NNS cord-014712-5u4e00q6 1138 13 pneumonia pneumonia NN cord-014712-5u4e00q6 1138 14 attacks attack NNS cord-014712-5u4e00q6 1138 15 / / SYM cord-014712-5u4e00q6 1138 16 year year NN cord-014712-5u4e00q6 1138 17 , , , cord-014712-5u4e00q6 1138 18 otitis otitis NN cord-014712-5u4e00q6 1138 19 media medium NNS cord-014712-5u4e00q6 1138 20 and and CC cord-014712-5u4e00q6 1138 21 sinusitis sinusitis NN cord-014712-5u4e00q6 1138 22 . . . cord-014712-5u4e00q6 1139 1 Hospitalization hospitalization NN cord-014712-5u4e00q6 1139 2 due due JJ cord-014712-5u4e00q6 1139 3 to to IN cord-014712-5u4e00q6 1139 4 respiratory respiratory JJ cord-014712-5u4e00q6 1139 5 insufficiency insufficiency NN cord-014712-5u4e00q6 1139 6 caused cause VBN cord-014712-5u4e00q6 1139 7 by by IN cord-014712-5u4e00q6 1139 8 bronchiolitis bronchiolitis NNP cord-014712-5u4e00q6 1139 9 obliterans obliterans NNP cord-014712-5u4e00q6 1139 10 and and CC cord-014712-5u4e00q6 1139 11 diagnosed diagnose VBN cord-014712-5u4e00q6 1139 12 with with IN cord-014712-5u4e00q6 1139 13 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 1139 14 at at IN cord-014712-5u4e00q6 1139 15 the the DT cord-014712-5u4e00q6 1139 16 age age NN cord-014712-5u4e00q6 1139 17 of of IN cord-014712-5u4e00q6 1139 18 27 27 CD cord-014712-5u4e00q6 1139 19 . . . cord-014712-5u4e00q6 1140 1 No no DT cord-014712-5u4e00q6 1140 2 consanguinity consanguinity NN cord-014712-5u4e00q6 1140 3 . . . cord-014712-5u4e00q6 1141 1 Patient patient JJ cord-014712-5u4e00q6 1141 2 findings finding NNS cord-014712-5u4e00q6 1141 3 at at IN cord-014712-5u4e00q6 1141 4 diagnosis diagnosis NN cord-014712-5u4e00q6 1141 5 ( ( -LRB- cord-014712-5u4e00q6 1141 6 02/2008 02/2008 CD cord-014712-5u4e00q6 1141 7 ) ) -RRB- cord-014712-5u4e00q6 1141 8 had have VBD cord-014712-5u4e00q6 1141 9 hepatospenomegaly hepatospenomegaly NNP cord-014712-5u4e00q6 1141 10 , , , cord-014712-5u4e00q6 1141 11 bilaterally bilaterally RB cord-014712-5u4e00q6 1141 12 cervical cervical JJ cord-014712-5u4e00q6 1141 13 , , , cord-014712-5u4e00q6 1141 14 supraclavicular supraclavicular NNP cord-014712-5u4e00q6 1141 15 axillar axillar NNP cord-014712-5u4e00q6 1141 16 LAP LAP NNP cord-014712-5u4e00q6 1141 17 , , , cord-014712-5u4e00q6 1141 18 osteoporosis osteoporosis NN cord-014712-5u4e00q6 1141 19 , , , cord-014712-5u4e00q6 1141 20 bronchiolitis bronchiolitis NNP cord-014712-5u4e00q6 1141 21 obliterans obliterans NNP cord-014712-5u4e00q6 1141 22 organizing organize VBG cord-014712-5u4e00q6 1141 23 pneumonia pneumonia NN cord-014712-5u4e00q6 1141 24 , , , cord-014712-5u4e00q6 1141 25 hyper hyper JJ cord-014712-5u4e00q6 1141 26 IgM IgM NNP cord-014712-5u4e00q6 1141 27 , , , cord-014712-5u4e00q6 1141 28 lower low JJR cord-014712-5u4e00q6 1141 29 IgG IgG NNP cord-014712-5u4e00q6 1141 30 , , , cord-014712-5u4e00q6 1141 31 IgA IgA NNP cord-014712-5u4e00q6 1141 32 , , , cord-014712-5u4e00q6 1141 33 IgE IgE NNP cord-014712-5u4e00q6 1141 34 , , , cord-014712-5u4e00q6 1141 35 low low JJ cord-014712-5u4e00q6 1141 36 B b NN cord-014712-5u4e00q6 1141 37 - - HYPH cord-014712-5u4e00q6 1141 38 cell cell NN cord-014712-5u4e00q6 1141 39 . . . cord-014712-5u4e00q6 1142 1 No no DT cord-014712-5u4e00q6 1142 2 response response NN cord-014712-5u4e00q6 1142 3 to to IN cord-014712-5u4e00q6 1142 4 tetanus tetanus NN cord-014712-5u4e00q6 1142 5 toxoid toxoid NN cord-014712-5u4e00q6 1142 6 . . . cord-014712-5u4e00q6 1143 1 İsohemagglutinin İsohemagglutinin NNP cord-014712-5u4e00q6 1143 2 AntiB AntiB NNP cord-014712-5u4e00q6 1143 3 was be VBD cord-014712-5u4e00q6 1143 4 ¼. ¼. CD cord-014712-5u4e00q6 1143 5 CD40,CD40L cd40,cd40l NN cord-014712-5u4e00q6 1143 6 , , , cord-014712-5u4e00q6 1143 7 AID aid NN cord-014712-5u4e00q6 1143 8 , , , cord-014712-5u4e00q6 1143 9 TACI TACI NNP cord-014712-5u4e00q6 1143 10 , , , cord-014712-5u4e00q6 1143 11 BAFFR BAFFR NNP cord-014712-5u4e00q6 1143 12 , , , cord-014712-5u4e00q6 1143 13 ICOS ICOS NNP cord-014712-5u4e00q6 1143 14 gene gene NN cord-014712-5u4e00q6 1143 15 mutation mutation NN cord-014712-5u4e00q6 1143 16 were be VBD cord-014712-5u4e00q6 1143 17 negative negative JJ cord-014712-5u4e00q6 1143 18 . . . cord-014712-5u4e00q6 1144 1 Protein protein NN cord-014712-5u4e00q6 1144 2 electrophoresis electrophoresis NN cord-014712-5u4e00q6 1144 3 revealed reveal VBD cord-014712-5u4e00q6 1144 4 polyclonal polyclonal JJ cord-014712-5u4e00q6 1144 5 IgM IgM NNP cord-014712-5u4e00q6 1144 6 increase increase NN cord-014712-5u4e00q6 1144 7 , , , cord-014712-5u4e00q6 1144 8 immunofixation immunofixation NN cord-014712-5u4e00q6 1144 9 was be VBD cord-014712-5u4e00q6 1144 10 no no DT cord-014712-5u4e00q6 1144 11 clonality clonality NN cord-014712-5u4e00q6 1144 12 . . . cord-014712-5u4e00q6 1145 1 lymph lymph NN cord-014712-5u4e00q6 1145 2 node node NN cord-014712-5u4e00q6 1145 3 biopsy biopsy NN cord-014712-5u4e00q6 1145 4 result result NN cord-014712-5u4e00q6 1145 5 was be VBD cord-014712-5u4e00q6 1145 6 available available JJ cord-014712-5u4e00q6 1145 7 paracortical paracortical JJ cord-014712-5u4e00q6 1145 8 expantion expantion NN cord-014712-5u4e00q6 1145 9 . . . cord-014712-5u4e00q6 1146 1 CD3(+ cd3(+ ADD cord-014712-5u4e00q6 1146 2 ) ) -RRB- cord-014712-5u4e00q6 1147 1 T T NNP cord-014712-5u4e00q6 1147 2 and and CC cord-014712-5u4e00q6 1147 3 CD20 CD20 NNP cord-014712-5u4e00q6 1147 4 were be VBD cord-014712-5u4e00q6 1147 5 positive positive JJ cord-014712-5u4e00q6 1147 6 . . . cord-014712-5u4e00q6 1148 1 B b NN cord-014712-5u4e00q6 1148 2 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1148 3 distribution distribution NN cord-014712-5u4e00q6 1148 4 were be VBD cord-014712-5u4e00q6 1148 5 normal normal JJ cord-014712-5u4e00q6 1148 6 . . . cord-014712-5u4e00q6 1149 1 Malignancy malignancy NN cord-014712-5u4e00q6 1149 2 ruled rule VBD cord-014712-5u4e00q6 1149 3 out out RP cord-014712-5u4e00q6 1149 4 . . . cord-014712-5u4e00q6 1150 1 No no DT cord-014712-5u4e00q6 1150 2 giant giant JJ cord-014712-5u4e00q6 1150 3 germinal germinal JJ cord-014712-5u4e00q6 1150 4 centers center NNS cord-014712-5u4e00q6 1150 5 . . . cord-014712-5u4e00q6 1151 1 Evaluation evaluation NN cord-014712-5u4e00q6 1151 2 of of IN cord-014712-5u4e00q6 1151 3 bone bone NN cord-014712-5u4e00q6 1151 4 marrow marrow NN cord-014712-5u4e00q6 1151 5 aspiration/ aspiration/ IN cord-014712-5u4e00q6 1151 6 biopsy biopsy NN cord-014712-5u4e00q6 1151 7 were be VBD cord-014712-5u4e00q6 1151 8 abnormal abnormal JJ cord-014712-5u4e00q6 1151 9 localization localization NN cord-014712-5u4e00q6 1151 10 of of IN cord-014712-5u4e00q6 1151 11 megakaryocytes megakaryocyte NNS cord-014712-5u4e00q6 1151 12 , , , cord-014712-5u4e00q6 1151 13 dismegakaryopoiesis dismegakaryopoiesis NNP cord-014712-5u4e00q6 1151 14 , , , cord-014712-5u4e00q6 1151 15 blasts blast NNS cord-014712-5u4e00q6 1151 16 in in IN cord-014712-5u4e00q6 1151 17 normal normal JJ cord-014712-5u4e00q6 1151 18 range range NN cord-014712-5u4e00q6 1151 19 . . . cord-014712-5u4e00q6 1152 1 Lymphocyte lymphocyte NN cord-014712-5u4e00q6 1152 2 ratio ratio NN cord-014712-5u4e00q6 1152 3 10 10 CD cord-014712-5u4e00q6 1152 4 % % NN cord-014712-5u4e00q6 1152 5 mostly mostly RB cord-014712-5u4e00q6 1152 6 consisting consist VBG cord-014712-5u4e00q6 1152 7 of of IN cord-014712-5u4e00q6 1152 8 CD3 CD3 NNP cord-014712-5u4e00q6 1152 9 + + CC cord-014712-5u4e00q6 1152 10 cells cell NNS cord-014712-5u4e00q6 1152 11 , , , cord-014712-5u4e00q6 1153 1 CD20 cd20 NN cord-014712-5u4e00q6 1153 2 + + CC cord-014712-5u4e00q6 1153 3 cells cell NNS cord-014712-5u4e00q6 1153 4 were be VBD cord-014712-5u4e00q6 1153 5 rare rare JJ cord-014712-5u4e00q6 1153 6 , , , cord-014712-5u4e00q6 1153 7 Plasma plasma NN cord-014712-5u4e00q6 1153 8 cell cell NN cord-014712-5u4e00q6 1153 9 ratio ratio NN cord-014712-5u4e00q6 1153 10 was be VBD cord-014712-5u4e00q6 1153 11 2 2 CD cord-014712-5u4e00q6 1153 12 % % NN cord-014712-5u4e00q6 1153 13 , , , cord-014712-5u4e00q6 1153 14 amyloid amyloid NN cord-014712-5u4e00q6 1153 15 negative negative JJ cord-014712-5u4e00q6 1153 16 . . . cord-014712-5u4e00q6 1154 1 Progression progression NN cord-014712-5u4e00q6 1154 2 of of IN cord-014712-5u4e00q6 1154 3 patient patient NN cord-014712-5u4e00q6 1154 4 , , , cord-014712-5u4e00q6 1154 5 IgM IgM NNP cord-014712-5u4e00q6 1154 6 level level NNP cord-014712-5u4e00q6 1154 7 and and CC cord-014712-5u4e00q6 1154 8 spnenomegaly spnenomegaly NNP cord-014712-5u4e00q6 1154 9 were be VBD cord-014712-5u4e00q6 1154 10 increased increase VBN cord-014712-5u4e00q6 1154 11 and and CC cord-014712-5u4e00q6 1154 12 patient patient NN cord-014712-5u4e00q6 1154 13 had have VBD cord-014712-5u4e00q6 1154 14 respiratory respiratory JJ cord-014712-5u4e00q6 1154 15 failure failure NN cord-014712-5u4e00q6 1154 16 . . . cord-014712-5u4e00q6 1155 1 Splenectomy Splenectomy NNP cord-014712-5u4e00q6 1155 2 could could MD cord-014712-5u4e00q6 1155 3 not not RB cord-014712-5u4e00q6 1155 4 be be VB cord-014712-5u4e00q6 1155 5 done do VBN cord-014712-5u4e00q6 1155 6 due due IN cord-014712-5u4e00q6 1155 7 to to IN cord-014712-5u4e00q6 1155 8 respiratory respiratory JJ cord-014712-5u4e00q6 1155 9 failure failure NN cord-014712-5u4e00q6 1155 10 . . . cord-014712-5u4e00q6 1156 1 Than than IN cord-014712-5u4e00q6 1156 2 patient patient JJ cord-014712-5u4e00q6 1156 3 was be VBD cord-014712-5u4e00q6 1156 4 treated treat VBN cord-014712-5u4e00q6 1156 5 with with IN cord-014712-5u4e00q6 1156 6 Rituximab Rituximab NNP cord-014712-5u4e00q6 1156 7 ( ( -LRB- cord-014712-5u4e00q6 1156 8 375mg 375mg NNP cord-014712-5u4e00q6 1156 9 / / SYM cord-014712-5u4e00q6 1156 10 kg kg NN cord-014712-5u4e00q6 1156 11 / / SYM cord-014712-5u4e00q6 1156 12 week week NN cord-014712-5u4e00q6 1156 13 ) ) -RRB- cord-014712-5u4e00q6 1156 14 . . . cord-014712-5u4e00q6 1157 1 After after IN cord-014712-5u4e00q6 1157 2 Rituximab Rituximab NNP cord-014712-5u4e00q6 1157 3 therapy therapy NN cord-014712-5u4e00q6 1157 4 , , , cord-014712-5u4e00q6 1157 5 lymph lymph NN cord-014712-5u4e00q6 1157 6 nodes node NNS cord-014712-5u4e00q6 1157 7 and and CC cord-014712-5u4e00q6 1157 8 splenomegaly splenomegaly NN cord-014712-5u4e00q6 1157 9 were be VBD cord-014712-5u4e00q6 1157 10 ( ( -LRB- cord-014712-5u4e00q6 1157 11 5 5 CD cord-014712-5u4e00q6 1157 12 cm cm NNP cord-014712-5u4e00q6 1157 13 ) ) -RRB- cord-014712-5u4e00q6 1157 14 , , , cord-014712-5u4e00q6 1157 15 regressed regress VBD cord-014712-5u4e00q6 1157 16 and and CC cord-014712-5u4e00q6 1157 17 IgM IgM NNP cord-014712-5u4e00q6 1157 18 level level NN cord-014712-5u4e00q6 1157 19 decreased decrease VBD cord-014712-5u4e00q6 1157 20 ( ( -LRB- cord-014712-5u4e00q6 1157 21 from from IN cord-014712-5u4e00q6 1157 22 4390 4390 CD cord-014712-5u4e00q6 1157 23 mg mg NNP cord-014712-5u4e00q6 1157 24 / / SYM cord-014712-5u4e00q6 1157 25 dl dl NNP cord-014712-5u4e00q6 1157 26 to to IN cord-014712-5u4e00q6 1157 27 2040 2040 CD cord-014712-5u4e00q6 1157 28 mg mg NNP cord-014712-5u4e00q6 1157 29 / / SYM cord-014712-5u4e00q6 1157 30 dl dl NNP cord-014712-5u4e00q6 1157 31 ) ) -RRB- cord-014712-5u4e00q6 1157 32 , , , cord-014712-5u4e00q6 1157 33 increased increase VBN cord-014712-5u4e00q6 1157 34 effort effort NN cord-014712-5u4e00q6 1157 35 capacity capacity NN cord-014712-5u4e00q6 1157 36 . . . cord-014712-5u4e00q6 1158 1 After after IN cord-014712-5u4e00q6 1158 2 7 7 CD cord-014712-5u4e00q6 1158 3 month month NN cord-014712-5u4e00q6 1158 4 after after IN cord-014712-5u4e00q6 1158 5 rituximab rituximab NN cord-014712-5u4e00q6 1158 6 therapy therapy NN cord-014712-5u4e00q6 1158 7 splenomegaly splenomegaly NNP cord-014712-5u4e00q6 1158 8 and and CC cord-014712-5u4e00q6 1158 9 IgM IgM NNP cord-014712-5u4e00q6 1158 10 level level NN cord-014712-5u4e00q6 1158 11 were be VBD cord-014712-5u4e00q6 1158 12 progressed progress VBN cord-014712-5u4e00q6 1158 13 . . . cord-014712-5u4e00q6 1159 1 Splenoctomy Splenoctomy NNP cord-014712-5u4e00q6 1159 2 was be VBD cord-014712-5u4e00q6 1159 3 performed perform VBN cord-014712-5u4e00q6 1159 4 . . . cord-014712-5u4e00q6 1160 1 Pathological pathological JJ cord-014712-5u4e00q6 1160 2 evaluation evaluation NN cord-014712-5u4e00q6 1160 3 of of IN cord-014712-5u4e00q6 1160 4 the the DT cord-014712-5u4e00q6 1160 5 spleen spleen NN cord-014712-5u4e00q6 1160 6 malignancy malignancy NN cord-014712-5u4e00q6 1160 7 ruled rule VBD cord-014712-5u4e00q6 1160 8 out out RP cord-014712-5u4e00q6 1160 9 . . . cord-014712-5u4e00q6 1161 1 Current current JJ cord-014712-5u4e00q6 1161 2 IgM igm NN cord-014712-5u4e00q6 1161 3 level level NN cord-014712-5u4e00q6 1161 4 is be VBZ cord-014712-5u4e00q6 1161 5 6300 6300 CD cord-014712-5u4e00q6 1161 6 mg mg NNP cord-014712-5u4e00q6 1161 7 / / SYM cord-014712-5u4e00q6 1161 8 dl dl NN cord-014712-5u4e00q6 1161 9 . . . cord-014712-5u4e00q6 1162 1 Conclusion conclusion NN cord-014712-5u4e00q6 1162 2 : : : cord-014712-5u4e00q6 1163 1 The the DT cord-014712-5u4e00q6 1163 2 most most RBS cord-014712-5u4e00q6 1163 3 convinient convinient JJ cord-014712-5u4e00q6 1163 4 scenerio scenerio NN cord-014712-5u4e00q6 1163 5 for for IN cord-014712-5u4e00q6 1163 6 this this DT cord-014712-5u4e00q6 1163 7 patient patient NN cord-014712-5u4e00q6 1163 8 would would MD cord-014712-5u4e00q6 1163 9 be be VB cord-014712-5u4e00q6 1163 10 a a DT cord-014712-5u4e00q6 1163 11 CSR CSR NNP cord-014712-5u4e00q6 1163 12 defect defect NN cord-014712-5u4e00q6 1163 13 of of IN cord-014712-5u4e00q6 1163 14 unknown unknown JJ cord-014712-5u4e00q6 1163 15 etiology etiology NN cord-014712-5u4e00q6 1163 16 presented present VBN cord-014712-5u4e00q6 1163 17 as as IN cord-014712-5u4e00q6 1163 18 CVID CVID NNP cord-014712-5u4e00q6 1163 19 . . . cord-014712-5u4e00q6 1164 1 The the DT cord-014712-5u4e00q6 1164 2 recent recent JJ cord-014712-5u4e00q6 1164 3 litarature litarature NN cord-014712-5u4e00q6 1164 4 revealed reveal VBD cord-014712-5u4e00q6 1164 5 genetic genetic JJ cord-014712-5u4e00q6 1164 6 defects defect NNS cord-014712-5u4e00q6 1164 7 of of IN cord-014712-5u4e00q6 1164 8 some some DT cord-014712-5u4e00q6 1164 9 molecules molecule NNS cord-014712-5u4e00q6 1164 10 operating operate VBG cord-014712-5u4e00q6 1164 11 in in IN cord-014712-5u4e00q6 1164 12 DNA dna NN cord-014712-5u4e00q6 1164 13 repair repair NN cord-014712-5u4e00q6 1164 14 pathways pathway NNS cord-014712-5u4e00q6 1164 15 such such JJ cord-014712-5u4e00q6 1164 16 as as IN cord-014712-5u4e00q6 1164 17 MSH2 MSH2 NNP cord-014712-5u4e00q6 1164 18 , , , cord-014712-5u4e00q6 1164 19 MSH4 MSH4 NNP cord-014712-5u4e00q6 1164 20 , , , cord-014712-5u4e00q6 1164 21 MSH5 MSH5 NNP cord-014712-5u4e00q6 1164 22 , , , cord-014712-5u4e00q6 1164 23 MSH6 MSH6 NNPS cord-014712-5u4e00q6 1164 24 , , , cord-014712-5u4e00q6 1164 25 MLH1 MLH1 NNP cord-014712-5u4e00q6 1164 26 , , , cord-014712-5u4e00q6 1164 27 RAD50 RAD50 NNP cord-014712-5u4e00q6 1164 28 , , , cord-014712-5u4e00q6 1164 29 RAD RAD NNP cord-014712-5u4e00q6 1164 30 52 52 CD cord-014712-5u4e00q6 1164 31 , , , cord-014712-5u4e00q6 1164 32 NBS1 NBS1 NNP cord-014712-5u4e00q6 1164 33 leading lead VBG cord-014712-5u4e00q6 1164 34 to to IN cord-014712-5u4e00q6 1164 35 CSR CSR NNP cord-014712-5u4e00q6 1164 36 abnormality abnormality NN cord-014712-5u4e00q6 1164 37 and and CC cord-014712-5u4e00q6 1164 38 impaired impaired JJ cord-014712-5u4e00q6 1164 39 antibody antibody NN cord-014712-5u4e00q6 1164 40 maturation maturation NN cord-014712-5u4e00q6 1164 41 . . . cord-014712-5u4e00q6 1165 1 CVID CVID NNP cord-014712-5u4e00q6 1165 2 is be VBZ cord-014712-5u4e00q6 1165 3 characterized characterize VBN cord-014712-5u4e00q6 1165 4 by by IN cord-014712-5u4e00q6 1165 5 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 1165 6 , , , cord-014712-5u4e00q6 1165 7 recurrent recurrent JJ cord-014712-5u4e00q6 1165 8 respiratory respiratory JJ cord-014712-5u4e00q6 1165 9 and and CC cord-014712-5u4e00q6 1165 10 gastrointestinal gastrointestinal JJ cord-014712-5u4e00q6 1165 11 bacterial bacterial JJ cord-014712-5u4e00q6 1165 12 infections infection NNS cord-014712-5u4e00q6 1165 13 . . . cord-014712-5u4e00q6 1166 1 Good Good NNP cord-014712-5u4e00q6 1166 2 's 's POS cord-014712-5u4e00q6 1166 3 Syndrome(GS Syndrome(GS NNP cord-014712-5u4e00q6 1166 4 ) ) -RRB- cord-014712-5u4e00q6 1166 5 is be VBZ cord-014712-5u4e00q6 1166 6 a a DT cord-014712-5u4e00q6 1166 7 thymoma thymoma NN cord-014712-5u4e00q6 1166 8 - - HYPH cord-014712-5u4e00q6 1166 9 related relate VBN cord-014712-5u4e00q6 1166 10 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1166 11 and and CC cord-014712-5u4e00q6 1166 12 characterized characterize VBN cord-014712-5u4e00q6 1166 13 by by IN cord-014712-5u4e00q6 1166 14 hypogammaglobulinemia hypogammaglobulinemia NNP cord-014712-5u4e00q6 1166 15 , , , cord-014712-5u4e00q6 1166 16 decreased decrease VBD cord-014712-5u4e00q6 1166 17 B B NNP cord-014712-5u4e00q6 1166 18 cell cell NN cord-014712-5u4e00q6 1166 19 and and CC cord-014712-5u4e00q6 1166 20 variable variable JJ cord-014712-5u4e00q6 1166 21 deficiencies deficiency NNS cord-014712-5u4e00q6 1166 22 in in IN cord-014712-5u4e00q6 1166 23 cell cell NN cord-014712-5u4e00q6 1166 24 - - HYPH cord-014712-5u4e00q6 1166 25 mediated mediate VBN cord-014712-5u4e00q6 1166 26 immunity immunity NN cord-014712-5u4e00q6 1166 27 . . . cord-014712-5u4e00q6 1167 1 Case case NN cord-014712-5u4e00q6 1167 2 : : : cord-014712-5u4e00q6 1168 1 A a DT cord-014712-5u4e00q6 1168 2 47-year 47-year JJ cord-014712-5u4e00q6 1168 3 old old JJ cord-014712-5u4e00q6 1168 4 male male JJ cord-014712-5u4e00q6 1168 5 patient patient NN cord-014712-5u4e00q6 1168 6 presented present VBN cord-014712-5u4e00q6 1168 7 with with IN cord-014712-5u4e00q6 1168 8 a a DT cord-014712-5u4e00q6 1168 9 palpable palpable JJ cord-014712-5u4e00q6 1168 10 anterior anterior JJ cord-014712-5u4e00q6 1168 11 chest chest NN cord-014712-5u4e00q6 1168 12 wall wall NN cord-014712-5u4e00q6 1168 13 mass mass NNP cord-014712-5u4e00q6 1168 14 . . . cord-014712-5u4e00q6 1169 1 In in IN cord-014712-5u4e00q6 1169 2 2005 2005 CD cord-014712-5u4e00q6 1169 3 , , , cord-014712-5u4e00q6 1169 4 he -PRON- PRP cord-014712-5u4e00q6 1169 5 was be VBD cord-014712-5u4e00q6 1169 6 diagnosed diagnose VBN cord-014712-5u4e00q6 1169 7 with with IN cord-014712-5u4e00q6 1169 8 rheumatoid rheumatoid NN cord-014712-5u4e00q6 1169 9 arthritis arthritis NN cord-014712-5u4e00q6 1169 10 . . . cord-014712-5u4e00q6 1170 1 Laboratory laboratory NN cord-014712-5u4e00q6 1170 2 showed show VBD cord-014712-5u4e00q6 1170 3 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 1170 4 and and CC cord-014712-5u4e00q6 1170 5 all all DT cord-014712-5u4e00q6 1170 6 autoantibodies autoantibody NNS cord-014712-5u4e00q6 1170 7 were be VBD cord-014712-5u4e00q6 1170 8 negative negative JJ cord-014712-5u4e00q6 1170 9 . . . cord-014712-5u4e00q6 1171 1 CD19 CD19 NNP cord-014712-5u4e00q6 1171 2 + + CC cord-014712-5u4e00q6 1171 3 , , , cord-014712-5u4e00q6 1171 4 CD20 CD20 NNP cord-014712-5u4e00q6 1171 5 + + XX cord-014712-5u4e00q6 1171 6 , , , cord-014712-5u4e00q6 1171 7 CD22 CD22 NNP cord-014712-5u4e00q6 1171 8 + + CC cord-014712-5u4e00q6 1171 9 cells cell NNS cord-014712-5u4e00q6 1171 10 were be VBD cord-014712-5u4e00q6 1171 11 < < XX cord-014712-5u4e00q6 1171 12 1 1 CD cord-014712-5u4e00q6 1171 13 % % NN cord-014712-5u4e00q6 1171 14 . . . cord-014712-5u4e00q6 1172 1 Bone bone NN cord-014712-5u4e00q6 1172 2 marrow(BM marrow(BM NNP cord-014712-5u4e00q6 1172 3 ) ) -RRB- cord-014712-5u4e00q6 1172 4 examination examination NN cord-014712-5u4e00q6 1172 5 demonstrated demonstrate VBD cord-014712-5u4e00q6 1172 6 low low JJ cord-014712-5u4e00q6 1172 7 CD20 cd20 NN cord-014712-5u4e00q6 1172 8 + + CC cord-014712-5u4e00q6 1172 9 B b NN cord-014712-5u4e00q6 1172 10 - - HYPH cord-014712-5u4e00q6 1172 11 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1172 12 and and CC cord-014712-5u4e00q6 1172 13 increase increase NN cord-014712-5u4e00q6 1172 14 in in IN cord-014712-5u4e00q6 1172 15 CD3 CD3 NNP cord-014712-5u4e00q6 1172 16 + + CC cord-014712-5u4e00q6 1172 17 T T NNP cord-014712-5u4e00q6 1172 18 cells cell NNS cord-014712-5u4e00q6 1172 19 . . . cord-014712-5u4e00q6 1173 1 Tuberculin Tuberculin NNP cord-014712-5u4e00q6 1173 2 skin skin NN cord-014712-5u4e00q6 1173 3 test test NN cord-014712-5u4e00q6 1173 4 was be VBD cord-014712-5u4e00q6 1173 5 positive positive JJ cord-014712-5u4e00q6 1173 6 . . . cord-014712-5u4e00q6 1174 1 T t NN cord-014712-5u4e00q6 1174 2 - - HYPH cord-014712-5u4e00q6 1174 3 cell cell NN cord-014712-5u4e00q6 1174 4 proliferative proliferative JJ cord-014712-5u4e00q6 1174 5 response response NN cord-014712-5u4e00q6 1174 6 was be VBD cord-014712-5u4e00q6 1174 7 normal normal JJ cord-014712-5u4e00q6 1174 8 . . . cord-014712-5u4e00q6 1175 1 Immunizations immunization NNS cord-014712-5u4e00q6 1175 2 with with IN cord-014712-5u4e00q6 1175 3 H.influenzae h.influenzae JJ cord-014712-5u4e00q6 1175 4 type type NN cord-014712-5u4e00q6 1175 5 - - HYPH cord-014712-5u4e00q6 1175 6 b b NN cord-014712-5u4e00q6 1175 7 and and CC cord-014712-5u4e00q6 1175 8 tetanus tetanus NN cord-014712-5u4e00q6 1175 9 toxoid toxoid NN cord-014712-5u4e00q6 1175 10 revealed reveal VBD cord-014712-5u4e00q6 1175 11 no no DT cord-014712-5u4e00q6 1175 12 response response NN cord-014712-5u4e00q6 1175 13 . . . cord-014712-5u4e00q6 1176 1 Anti Anti NNP cord-014712-5u4e00q6 1176 2 - - NNP cord-014712-5u4e00q6 1176 3 B b JJ cord-014712-5u4e00q6 1176 4 titer titer NN cord-014712-5u4e00q6 1176 5 was be VBD cord-014712-5u4e00q6 1176 6 low low JJ cord-014712-5u4e00q6 1176 7 . . . cord-014712-5u4e00q6 1177 1 TACI TACI NNP cord-014712-5u4e00q6 1177 2 , , , cord-014712-5u4e00q6 1177 3 Btk Btk NNP cord-014712-5u4e00q6 1177 4 and and CC cord-014712-5u4e00q6 1177 5 ICOS ICOS NNP cord-014712-5u4e00q6 1177 6 mutattions mutattion NNS cord-014712-5u4e00q6 1177 7 were be VBD cord-014712-5u4e00q6 1177 8 negative negative JJ cord-014712-5u4e00q6 1177 9 . . . cord-014712-5u4e00q6 1178 1 Ultrasonography Ultrasonography NNP cord-014712-5u4e00q6 1178 2 showed show VBD cord-014712-5u4e00q6 1178 3 hepatosplenomegaly hepatosplenomegaly NNP cord-014712-5u4e00q6 1178 4 . . . cord-014712-5u4e00q6 1179 1 Mild mild JJ cord-014712-5u4e00q6 1179 2 edema edema NN cord-014712-5u4e00q6 1179 3 , , , cord-014712-5u4e00q6 1179 4 mononuclear mononuclear JJ cord-014712-5u4e00q6 1179 5 cell cell NN cord-014712-5u4e00q6 1179 6 infiltration infiltration NN cord-014712-5u4e00q6 1179 7 ( ( -LRB- cord-014712-5u4e00q6 1179 8 suggested suggest VBD cord-014712-5u4e00q6 1179 9 the the DT cord-014712-5u4e00q6 1179 10 early early JJ cord-014712-5u4e00q6 1179 11 stages stage NNS cord-014712-5u4e00q6 1179 12 of of IN cord-014712-5u4e00q6 1179 13 extrahepatic extrahepatic JJ cord-014712-5u4e00q6 1179 14 biliary biliary JJ cord-014712-5u4e00q6 1179 15 obstruction obstruction NN cord-014712-5u4e00q6 1179 16 ) ) -RRB- cord-014712-5u4e00q6 1179 17 were be VBD cord-014712-5u4e00q6 1179 18 detected detect VBN cord-014712-5u4e00q6 1179 19 on on IN cord-014712-5u4e00q6 1179 20 liver liver NN cord-014712-5u4e00q6 1179 21 biopsy biopsy NN cord-014712-5u4e00q6 1179 22 . . . cord-014712-5u4e00q6 1180 1 In in IN cord-014712-5u4e00q6 1180 2 the the DT cord-014712-5u4e00q6 1180 3 medical medical JJ cord-014712-5u4e00q6 1180 4 history history NN cord-014712-5u4e00q6 1180 5 , , , cord-014712-5u4e00q6 1180 6 he -PRON- PRP cord-014712-5u4e00q6 1180 7 had have VBD cord-014712-5u4e00q6 1180 8 reported report VBN cord-014712-5u4e00q6 1180 9 chronic chronic JJ cord-014712-5u4e00q6 1180 10 sinusitis sinusitis NN cord-014712-5u4e00q6 1180 11 , , , cord-014712-5u4e00q6 1180 12 otitis otitis NN cord-014712-5u4e00q6 1180 13 and and CC cord-014712-5u4e00q6 1180 14 bronchitis bronchitis NN cord-014712-5u4e00q6 1180 15 dating date VBG cord-014712-5u4e00q6 1180 16 back back RB cord-014712-5u4e00q6 1180 17 to to IN cord-014712-5u4e00q6 1180 18 3rd 3rd JJ cord-014712-5u4e00q6 1180 19 decade decade NN cord-014712-5u4e00q6 1180 20 of of IN cord-014712-5u4e00q6 1180 21 life life NN cord-014712-5u4e00q6 1180 22 . . . cord-014712-5u4e00q6 1181 1 At at IN cord-014712-5u4e00q6 1181 2 age age NN cord-014712-5u4e00q6 1181 3 38 38 CD cord-014712-5u4e00q6 1181 4 , , , cord-014712-5u4e00q6 1181 5 he -PRON- PRP cord-014712-5u4e00q6 1181 6 underwent undergo VBD cord-014712-5u4e00q6 1181 7 surgery surgery NN cord-014712-5u4e00q6 1181 8 for for IN cord-014712-5u4e00q6 1181 9 thymoma thymoma NNP cord-014712-5u4e00q6 1181 10 . . . cord-014712-5u4e00q6 1182 1 In in IN cord-014712-5u4e00q6 1182 2 follow follow NN cord-014712-5u4e00q6 1182 3 - - HYPH cord-014712-5u4e00q6 1182 4 up up NN cord-014712-5u4e00q6 1182 5 , , , cord-014712-5u4e00q6 1182 6 the the DT cord-014712-5u4e00q6 1182 7 computed compute VBN cord-014712-5u4e00q6 1182 8 tomography tomography NN cord-014712-5u4e00q6 1182 9 showed show VBD cord-014712-5u4e00q6 1182 10 soft soft JJ cord-014712-5u4e00q6 1182 11 tissue tissue NN cord-014712-5u4e00q6 1182 12 mass mass NN cord-014712-5u4e00q6 1182 13 on on IN cord-014712-5u4e00q6 1182 14 the the DT cord-014712-5u4e00q6 1182 15 anterior anterior JJ cord-014712-5u4e00q6 1182 16 chest chest NN cord-014712-5u4e00q6 1182 17 wall wall NN cord-014712-5u4e00q6 1182 18 and and CC cord-014712-5u4e00q6 1182 19 pathology pathology NN cord-014712-5u4e00q6 1182 20 was be VBD cord-014712-5u4e00q6 1182 21 thymoma thymoma NNP cord-014712-5u4e00q6 1182 22 . . . cord-014712-5u4e00q6 1183 1 Discussion discussion NN cord-014712-5u4e00q6 1183 2 : : : cord-014712-5u4e00q6 1184 1 Frequent frequent JJ cord-014712-5u4e00q6 1184 2 respiratory respiratory JJ cord-014712-5u4e00q6 1184 3 infections infection NNS cord-014712-5u4e00q6 1184 4 with with IN cord-014712-5u4e00q6 1184 5 encapsulated encapsulate VBN cord-014712-5u4e00q6 1184 6 pathogens pathogen NNS cord-014712-5u4e00q6 1184 7 beginning begin VBG cord-014712-5u4e00q6 1184 8 at at IN cord-014712-5u4e00q6 1184 9 the the DT cord-014712-5u4e00q6 1184 10 age age NN cord-014712-5u4e00q6 1184 11 of of IN cord-014712-5u4e00q6 1184 12 30 30 CD cord-014712-5u4e00q6 1184 13 , , , cord-014712-5u4e00q6 1184 14 lack lack NN cord-014712-5u4e00q6 1184 15 of of IN cord-014712-5u4e00q6 1184 16 opportunistic opportunistic JJ cord-014712-5u4e00q6 1184 17 pathogen pathogen NN cord-014712-5u4e00q6 1184 18 infections infection NNS cord-014712-5u4e00q6 1184 19 , , , cord-014712-5u4e00q6 1184 20 presence presence NN cord-014712-5u4e00q6 1184 21 of of IN cord-014712-5u4e00q6 1184 22 hepatosplenomegaly hepatosplenomegaly NNP cord-014712-5u4e00q6 1184 23 and and CC cord-014712-5u4e00q6 1184 24 rheumatoid rheumatoid NNP cord-014712-5u4e00q6 1184 25 arthritis arthritis NN cord-014712-5u4e00q6 1184 26 , , , cord-014712-5u4e00q6 1184 27 BM BM NNP cord-014712-5u4e00q6 1184 28 examination examination NN cord-014712-5u4e00q6 1184 29 findings finding NNS cord-014712-5u4e00q6 1184 30 and and CC cord-014712-5u4e00q6 1184 31 successful successful JJ cord-014712-5u4e00q6 1184 32 management management NN cord-014712-5u4e00q6 1184 33 of of IN cord-014712-5u4e00q6 1184 34 infections infection NNS cord-014712-5u4e00q6 1184 35 with with IN cord-014712-5u4e00q6 1184 36 IVIG IVIG NNP cord-014712-5u4e00q6 1184 37 therapy therapy NN cord-014712-5u4e00q6 1184 38 all all DT cord-014712-5u4e00q6 1184 39 indicated indicate VBD cord-014712-5u4e00q6 1184 40 a a DT cord-014712-5u4e00q6 1184 41 diagnosis diagnosis NN cord-014712-5u4e00q6 1184 42 of of IN cord-014712-5u4e00q6 1184 43 CVID CVID NNP cord-014712-5u4e00q6 1184 44 . . . cord-014712-5u4e00q6 1185 1 The the DT cord-014712-5u4e00q6 1185 2 coexistence coexistence NN cord-014712-5u4e00q6 1185 3 of of IN cord-014712-5u4e00q6 1185 4 CVID CVID NNP cord-014712-5u4e00q6 1185 5 and and CC cord-014712-5u4e00q6 1185 6 thymoma thymoma NNP cord-014712-5u4e00q6 1185 7 has have VBZ cord-014712-5u4e00q6 1185 8 been be VBN cord-014712-5u4e00q6 1185 9 reported report VBN cord-014712-5u4e00q6 1185 10 in in IN cord-014712-5u4e00q6 1185 11 the the DT cord-014712-5u4e00q6 1185 12 literature literature NN cord-014712-5u4e00q6 1185 13 . . . cord-014712-5u4e00q6 1186 1 Introduction introduction NN cord-014712-5u4e00q6 1186 2 : : : cord-014712-5u4e00q6 1187 1 Common common JJ cord-014712-5u4e00q6 1187 2 variable variable JJ cord-014712-5u4e00q6 1187 3 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1187 4 ( ( -LRB- cord-014712-5u4e00q6 1187 5 CVID CVID NNP cord-014712-5u4e00q6 1187 6 ) ) -RRB- cord-014712-5u4e00q6 1187 7 is be VBZ cord-014712-5u4e00q6 1187 8 a a DT cord-014712-5u4e00q6 1187 9 primary primary JJ cord-014712-5u4e00q6 1187 10 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1187 11 disorder disorder NN cord-014712-5u4e00q6 1187 12 characterized characterize VBN cord-014712-5u4e00q6 1187 13 by by IN cord-014712-5u4e00q6 1187 14 impaired impair VBN cord-014712-5u4e00q6 1187 15 B b NN cord-014712-5u4e00q6 1187 16 cell cell NN cord-014712-5u4e00q6 1187 17 differentiation differentiation NN cord-014712-5u4e00q6 1187 18 with with IN cord-014712-5u4e00q6 1187 19 defective defective JJ cord-014712-5u4e00q6 1187 20 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1187 21 production production NN cord-014712-5u4e00q6 1187 22 . . . cord-014712-5u4e00q6 1188 1 It -PRON- PRP cord-014712-5u4e00q6 1188 2 has have VBZ cord-014712-5u4e00q6 1188 3 heterogeneous heterogeneous JJ cord-014712-5u4e00q6 1188 4 clinical clinical JJ cord-014712-5u4e00q6 1188 5 manifestations manifestation NNS cord-014712-5u4e00q6 1188 6 including include VBG cord-014712-5u4e00q6 1188 7 recurrent recurrent JJ cord-014712-5u4e00q6 1188 8 infections infection NNS cord-014712-5u4e00q6 1188 9 , , , cord-014712-5u4e00q6 1188 10 chronic chronic JJ cord-014712-5u4e00q6 1188 11 lung lung NN cord-014712-5u4e00q6 1188 12 disease disease NN cord-014712-5u4e00q6 1188 13 , , , cord-014712-5u4e00q6 1188 14 autoimmune autoimmune JJ cord-014712-5u4e00q6 1188 15 disorders disorder NNS cord-014712-5u4e00q6 1188 16 , , , cord-014712-5u4e00q6 1188 17 gastrointestinal gastrointestinal JJ cord-014712-5u4e00q6 1188 18 disease disease NN cord-014712-5u4e00q6 1188 19 , , , cord-014712-5u4e00q6 1188 20 and and CC cord-014712-5u4e00q6 1188 21 susceptibility susceptibility NN cord-014712-5u4e00q6 1188 22 to to IN cord-014712-5u4e00q6 1188 23 lymphoma lymphoma NN cord-014712-5u4e00q6 1188 24 . . . cord-014712-5u4e00q6 1189 1 Patients patient NNS cord-014712-5u4e00q6 1189 2 with with IN cord-014712-5u4e00q6 1189 3 this this DT cord-014712-5u4e00q6 1189 4 disorder disorder NN cord-014712-5u4e00q6 1189 5 have have VBP cord-014712-5u4e00q6 1189 6 evidence evidence NN cord-014712-5u4e00q6 1189 7 of of IN cord-014712-5u4e00q6 1189 8 immune immune JJ cord-014712-5u4e00q6 1189 9 dysregulation dysregulation NN cord-014712-5u4e00q6 1189 10 leading lead VBG cord-014712-5u4e00q6 1189 11 to to IN cord-014712-5u4e00q6 1189 12 autoimmunity autoimmunity NN cord-014712-5u4e00q6 1189 13 . . . cord-014712-5u4e00q6 1190 1 Autoimmune autoimmune JJ cord-014712-5u4e00q6 1190 2 cytopenias cytopenia NNS cord-014712-5u4e00q6 1190 3 are be VBP cord-014712-5u4e00q6 1190 4 a a DT cord-014712-5u4e00q6 1190 5 more more RBR cord-014712-5u4e00q6 1190 6 common common JJ cord-014712-5u4e00q6 1190 7 presenting present VBG cord-014712-5u4e00q6 1190 8 disorder disorder NN cord-014712-5u4e00q6 1190 9 in in IN cord-014712-5u4e00q6 1190 10 children child NNS cord-014712-5u4e00q6 1190 11 and and CC cord-014712-5u4e00q6 1190 12 may may MD cord-014712-5u4e00q6 1190 13 be be VB cord-014712-5u4e00q6 1190 14 the the DT cord-014712-5u4e00q6 1190 15 initial initial JJ cord-014712-5u4e00q6 1190 16 manifestation manifestation NN cord-014712-5u4e00q6 1190 17 of of IN cord-014712-5u4e00q6 1190 18 the the DT cord-014712-5u4e00q6 1190 19 disease disease NN cord-014712-5u4e00q6 1190 20 . . . cord-014712-5u4e00q6 1191 1 We -PRON- PRP cord-014712-5u4e00q6 1191 2 want want VBP cord-014712-5u4e00q6 1191 3 to to TO cord-014712-5u4e00q6 1191 4 present present VB cord-014712-5u4e00q6 1191 5 a a DT cord-014712-5u4e00q6 1191 6 patient patient NN cord-014712-5u4e00q6 1191 7 presenting present VBG cord-014712-5u4e00q6 1191 8 with with IN cord-014712-5u4e00q6 1191 9 autoimmunue autoimmunue JJ cord-014712-5u4e00q6 1191 10 hemolytic hemolytic JJ cord-014712-5u4e00q6 1191 11 anemia anemia NN cord-014712-5u4e00q6 1191 12 and and CC cord-014712-5u4e00q6 1191 13 finally finally RB cord-014712-5u4e00q6 1191 14 diagnosed diagnose VBN cord-014712-5u4e00q6 1191 15 as as IN cord-014712-5u4e00q6 1191 16 CVID CVID NNP cord-014712-5u4e00q6 1191 17 . . . cord-014712-5u4e00q6 1192 1 Case case NN cord-014712-5u4e00q6 1192 2 : : : cord-014712-5u4e00q6 1193 1 A a DT cord-014712-5u4e00q6 1193 2 15 15 CD cord-014712-5u4e00q6 1193 3 years year NNS cord-014712-5u4e00q6 1193 4 old old JJ cord-014712-5u4e00q6 1193 5 , , , cord-014712-5u4e00q6 1193 6 previously previously RB cord-014712-5u4e00q6 1193 7 healthy healthy JJ cord-014712-5u4e00q6 1193 8 female female JJ cord-014712-5u4e00q6 1193 9 patient patient NN cord-014712-5u4e00q6 1193 10 applied apply VBN cord-014712-5u4e00q6 1193 11 to to IN cord-014712-5u4e00q6 1193 12 emergency emergency NN cord-014712-5u4e00q6 1193 13 clinic clinic NN cord-014712-5u4e00q6 1193 14 with with IN cord-014712-5u4e00q6 1193 15 complaint complaint NN cord-014712-5u4e00q6 1193 16 of of IN cord-014712-5u4e00q6 1193 17 paleness paleness NN cord-014712-5u4e00q6 1193 18 , , , cord-014712-5u4e00q6 1193 19 light light JJ cord-014712-5u4e00q6 1193 20 headedness headedness NN cord-014712-5u4e00q6 1193 21 and and CC cord-014712-5u4e00q6 1193 22 yellow yellow JJ cord-014712-5u4e00q6 1193 23 discoloration discoloration NN cord-014712-5u4e00q6 1193 24 of of IN cord-014712-5u4e00q6 1193 25 her -PRON- PRP$ cord-014712-5u4e00q6 1193 26 scleras sclera NNS cord-014712-5u4e00q6 1193 27 . . . cord-014712-5u4e00q6 1194 1 Her -PRON- PRP$ cord-014712-5u4e00q6 1194 2 history history NN cord-014712-5u4e00q6 1194 3 was be VBD cord-014712-5u4e00q6 1194 4 not not RB cord-014712-5u4e00q6 1194 5 compatible compatible JJ cord-014712-5u4e00q6 1194 6 with with IN cord-014712-5u4e00q6 1194 7 blood blood NN cord-014712-5u4e00q6 1194 8 loss loss NN cord-014712-5u4e00q6 1194 9 . . . cord-014712-5u4e00q6 1195 1 She -PRON- PRP cord-014712-5u4e00q6 1195 2 denied deny VBD cord-014712-5u4e00q6 1195 3 having have VBG cord-014712-5u4e00q6 1195 4 melena melena NNP cord-014712-5u4e00q6 1195 5 , , , cord-014712-5u4e00q6 1195 6 hemotochezia hemotochezia NNP cord-014712-5u4e00q6 1195 7 or or CC cord-014712-5u4e00q6 1195 8 hematuria hematuria NN cord-014712-5u4e00q6 1195 9 . . . cord-014712-5u4e00q6 1196 1 Her -PRON- PRP$ cord-014712-5u4e00q6 1196 2 mensturation mensturation NN cord-014712-5u4e00q6 1196 3 history history NN cord-014712-5u4e00q6 1196 4 was be VBD cord-014712-5u4e00q6 1196 5 also also RB cord-014712-5u4e00q6 1196 6 normal normal JJ cord-014712-5u4e00q6 1196 7 . . . cord-014712-5u4e00q6 1197 1 Her -PRON- PRP$ cord-014712-5u4e00q6 1197 2 hemoglobin hemoglobin NN cord-014712-5u4e00q6 1197 3 level level NN cord-014712-5u4e00q6 1197 4 was be VBD cord-014712-5u4e00q6 1197 5 7.2 7.2 CD cord-014712-5u4e00q6 1197 6 gr gr NNP cord-014712-5u4e00q6 1197 7 / / SYM cord-014712-5u4e00q6 1197 8 dl dl NNP cord-014712-5u4e00q6 1197 9 , , , cord-014712-5u4e00q6 1197 10 reticulocyte reticulocyte NNP cord-014712-5u4e00q6 1197 11 count count NNP cord-014712-5u4e00q6 1197 12 was be VBD cord-014712-5u4e00q6 1197 13 % % NN cord-014712-5u4e00q6 1197 14 4.17 4.17 CD cord-014712-5u4e00q6 1197 15 , , , cord-014712-5u4e00q6 1197 16 complete complete JJ cord-014712-5u4e00q6 1197 17 blood blood NN cord-014712-5u4e00q6 1197 18 count count NN cord-014712-5u4e00q6 1197 19 was be VBD cord-014712-5u4e00q6 1197 20 otherwise otherwise RB cord-014712-5u4e00q6 1197 21 normal normal JJ cord-014712-5u4e00q6 1197 22 . . . cord-014712-5u4e00q6 1198 1 Direct Direct NNP cord-014712-5u4e00q6 1198 2 coombs coombs NNP cord-014712-5u4e00q6 1198 3 was be VBD cord-014712-5u4e00q6 1198 4 ( ( -LRB- cord-014712-5u4e00q6 1198 5 + + . cord-014712-5u4e00q6 1199 1 + + CC cord-014712-5u4e00q6 1199 2 + + NN cord-014712-5u4e00q6 1199 3 ) ) -RRB- cord-014712-5u4e00q6 1199 4 . . . cord-014712-5u4e00q6 1200 1 For for IN cord-014712-5u4e00q6 1200 2 the the DT cord-014712-5u4e00q6 1200 3 differential differential JJ cord-014712-5u4e00q6 1200 4 diagnosis diagnosis NN cord-014712-5u4e00q6 1200 5 of of IN cord-014712-5u4e00q6 1200 6 immune immune JJ cord-014712-5u4e00q6 1200 7 hemolytic hemolytic JJ cord-014712-5u4e00q6 1200 8 anemia anemia NN cord-014712-5u4e00q6 1200 9 , , , cord-014712-5u4e00q6 1200 10 viral viral JJ cord-014712-5u4e00q6 1200 11 serology serology NN cord-014712-5u4e00q6 1200 12 , , , cord-014712-5u4e00q6 1200 13 ANA ANA NNP cord-014712-5u4e00q6 1200 14 and and CC cord-014712-5u4e00q6 1200 15 anti anti JJ cord-014712-5u4e00q6 1200 16 - - NN cord-014712-5u4e00q6 1200 17 dsDNA dsdna JJ cord-014712-5u4e00q6 1200 18 were be VBD cord-014712-5u4e00q6 1200 19 studied study VBN cord-014712-5u4e00q6 1200 20 , , , cord-014712-5u4e00q6 1200 21 but but CC cord-014712-5u4e00q6 1200 22 the the DT cord-014712-5u4e00q6 1200 23 results result NNS cord-014712-5u4e00q6 1200 24 were be VBD cord-014712-5u4e00q6 1200 25 normal normal JJ cord-014712-5u4e00q6 1200 26 . . . cord-014712-5u4e00q6 1201 1 IgG IgG NNP cord-014712-5u4e00q6 1201 2 , , , cord-014712-5u4e00q6 1201 3 IgM IgM NNP cord-014712-5u4e00q6 1201 4 and and CC cord-014712-5u4e00q6 1201 5 IgA IgA NNP cord-014712-5u4e00q6 1201 6 levels level NNS cord-014712-5u4e00q6 1201 7 were be VBD cord-014712-5u4e00q6 1201 8 lower low JJR cord-014712-5u4e00q6 1201 9 than than IN cord-014712-5u4e00q6 1201 10 normal normal JJ cord-014712-5u4e00q6 1201 11 normal normal JJ cord-014712-5u4e00q6 1201 12 for for IN cord-014712-5u4e00q6 1201 13 her -PRON- PRP$ cord-014712-5u4e00q6 1201 14 age age NN cord-014712-5u4e00q6 1201 15 . . . cord-014712-5u4e00q6 1202 1 Other other JJ cord-014712-5u4e00q6 1202 2 causes cause NNS cord-014712-5u4e00q6 1202 3 of of IN cord-014712-5u4e00q6 1202 4 hypogammaglobulinemia hypogammaglobulinemia NNP cord-014712-5u4e00q6 1202 5 were be VBD cord-014712-5u4e00q6 1202 6 excluded exclude VBN cord-014712-5u4e00q6 1202 7 . . . cord-014712-5u4e00q6 1203 1 Blood blood NN cord-014712-5u4e00q6 1203 2 group group NN cord-014712-5u4e00q6 1203 3 was be VBD cord-014712-5u4e00q6 1203 4 ARh ARh NNS cord-014712-5u4e00q6 1203 5 ( ( -LRB- cord-014712-5u4e00q6 1203 6 + + CC cord-014712-5u4e00q6 1203 7 ) ) -RRB- cord-014712-5u4e00q6 1203 8 , , , cord-014712-5u4e00q6 1203 9 blood blood NN cord-014712-5u4e00q6 1203 10 isohemagglutinin isohemagglutinin NNP cord-014712-5u4e00q6 1203 11 were be VBD cord-014712-5u4e00q6 1203 12 Anti Anti NNP cord-014712-5u4e00q6 1203 13 A(- A(- NNP cord-014712-5u4e00q6 1203 14 ) ) -RRB- cord-014712-5u4e00q6 1203 15 and and CC cord-014712-5u4e00q6 1203 16 Anti Anti NNP cord-014712-5u4e00q6 1203 17 B B NNP cord-014712-5u4e00q6 1203 18 ( ( -LRB- cord-014712-5u4e00q6 1203 19 -/1 -/1 NNP cord-014712-5u4e00q6 1203 20 + + CC cord-014712-5u4e00q6 1203 21 ) ) -RRB- cord-014712-5u4e00q6 1203 22 . . . cord-014712-5u4e00q6 1204 1 Lymphocyte lymphocyte NN cord-014712-5u4e00q6 1204 2 subsets subset NNS cord-014712-5u4e00q6 1204 3 were be VBD cord-014712-5u4e00q6 1204 4 also also RB cord-014712-5u4e00q6 1204 5 studided studided JJ cord-014712-5u4e00q6 1204 6 . . . cord-014712-5u4e00q6 1205 1 As as IN cord-014712-5u4e00q6 1205 2 the the DT cord-014712-5u4e00q6 1205 3 patient patient NN cord-014712-5u4e00q6 1205 4 has have VBZ cord-014712-5u4e00q6 1205 5 reduced reduce VBN cord-014712-5u4e00q6 1205 6 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1205 7 levels level NNS cord-014712-5u4e00q6 1205 8 with with IN cord-014712-5u4e00q6 1205 9 normal normal JJ cord-014712-5u4e00q6 1205 10 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1205 11 subset subset NN cord-014712-5u4e00q6 1205 12 analysis analysis NN cord-014712-5u4e00q6 1205 13 , , , cord-014712-5u4e00q6 1205 14 she -PRON- PRP cord-014712-5u4e00q6 1205 15 presented present VBD cord-014712-5u4e00q6 1205 16 after after IN cord-014712-5u4e00q6 1205 17 puberty puberty NN cord-014712-5u4e00q6 1205 18 and and CC cord-014712-5u4e00q6 1205 19 other other JJ cord-014712-5u4e00q6 1205 20 defined define VBN cord-014712-5u4e00q6 1205 21 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1205 22 states state NNS cord-014712-5u4e00q6 1205 23 were be VBD cord-014712-5u4e00q6 1205 24 excluded exclude VBN cord-014712-5u4e00q6 1205 25 , , , cord-014712-5u4e00q6 1205 26 she -PRON- PRP cord-014712-5u4e00q6 1205 27 was be VBD cord-014712-5u4e00q6 1205 28 diagnosed diagnose VBN cord-014712-5u4e00q6 1205 29 as as IN cord-014712-5u4e00q6 1205 30 CVID CVID NNP cord-014712-5u4e00q6 1205 31 and and CC cord-014712-5u4e00q6 1205 32 monthly monthly JJ cord-014712-5u4e00q6 1205 33 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1205 34 replacement replacement NN cord-014712-5u4e00q6 1205 35 therapy therapy NN cord-014712-5u4e00q6 1205 36 was be VBD cord-014712-5u4e00q6 1205 37 planned plan VBN cord-014712-5u4e00q6 1205 38 . . . cord-014712-5u4e00q6 1206 1 She -PRON- PRP cord-014712-5u4e00q6 1206 2 had have VBD cord-014712-5u4e00q6 1206 3 aseptic aseptic JJ cord-014712-5u4e00q6 1206 4 meningitis meningitis NN cord-014712-5u4e00q6 1206 5 after after IN cord-014712-5u4e00q6 1206 6 her -PRON- PRP$ cord-014712-5u4e00q6 1206 7 first first JJ cord-014712-5u4e00q6 1206 8 IVIG IVIG NNP cord-014712-5u4e00q6 1206 9 transfusion transfusion NN cord-014712-5u4e00q6 1206 10 . . . cord-014712-5u4e00q6 1207 1 The the DT cord-014712-5u4e00q6 1207 2 IVIG IVIG NNP cord-014712-5u4e00q6 1207 3 preparation preparation NN cord-014712-5u4e00q6 1207 4 was be VBD cord-014712-5u4e00q6 1207 5 changed change VBN cord-014712-5u4e00q6 1207 6 with with IN cord-014712-5u4e00q6 1207 7 another another DT cord-014712-5u4e00q6 1207 8 trade trade NN cord-014712-5u4e00q6 1207 9 and and CC cord-014712-5u4e00q6 1207 10 she -PRON- PRP cord-014712-5u4e00q6 1207 11 did do VBD cord-014712-5u4e00q6 1207 12 not not RB cord-014712-5u4e00q6 1207 13 have have VB cord-014712-5u4e00q6 1207 14 any any DT cord-014712-5u4e00q6 1207 15 problem problem NN cord-014712-5u4e00q6 1207 16 during during IN cord-014712-5u4e00q6 1207 17 the the DT cord-014712-5u4e00q6 1207 18 following follow VBG cord-014712-5u4e00q6 1207 19 treatments treatment NNS cord-014712-5u4e00q6 1207 20 . . . cord-014712-5u4e00q6 1208 1 It -PRON- PRP cord-014712-5u4e00q6 1208 2 has have VBZ cord-014712-5u4e00q6 1208 3 been be VBN cord-014712-5u4e00q6 1208 4 one one CD cord-014712-5u4e00q6 1208 5 year year NN cord-014712-5u4e00q6 1208 6 since since IN cord-014712-5u4e00q6 1208 7 she -PRON- PRP cord-014712-5u4e00q6 1208 8 was be VBD cord-014712-5u4e00q6 1208 9 diagnosed diagnose VBN cord-014712-5u4e00q6 1209 1 and and CC cord-014712-5u4e00q6 1209 2 she -PRON- PRP cord-014712-5u4e00q6 1209 3 did do VBD cord-014712-5u4e00q6 1209 4 not not RB cord-014712-5u4e00q6 1209 5 have have VB cord-014712-5u4e00q6 1209 6 any any DT cord-014712-5u4e00q6 1209 7 other other JJ cord-014712-5u4e00q6 1209 8 medical medical JJ cord-014712-5u4e00q6 1209 9 problems problem NNS cord-014712-5u4e00q6 1209 10 . . . cord-014712-5u4e00q6 1210 1 Conclusion conclusion NN cord-014712-5u4e00q6 1210 2 : : : cord-014712-5u4e00q6 1211 1 The the DT cord-014712-5u4e00q6 1211 2 diagnosis diagnosis NN cord-014712-5u4e00q6 1211 3 of of IN cord-014712-5u4e00q6 1211 4 CVID CVID NNP cord-014712-5u4e00q6 1211 5 requires require VBZ cord-014712-5u4e00q6 1211 6 decreased decrease VBN cord-014712-5u4e00q6 1211 7 IgG IgG NNP cord-014712-5u4e00q6 1211 8 , , , cord-014712-5u4e00q6 1211 9 IgM IgM NNP cord-014712-5u4e00q6 1211 10 and and CC cord-014712-5u4e00q6 1211 11 IgA IgA NNP cord-014712-5u4e00q6 1211 12 levels level NNS cord-014712-5u4e00q6 1211 13 are be VBP cord-014712-5u4e00q6 1211 14 also also RB cord-014712-5u4e00q6 1211 15 reduced reduce VBN cord-014712-5u4e00q6 1211 16 but but CC cord-014712-5u4e00q6 1211 17 are be VBP cord-014712-5u4e00q6 1211 18 less less RBR cord-014712-5u4e00q6 1211 19 valuable valuable JJ cord-014712-5u4e00q6 1211 20 for for IN cord-014712-5u4e00q6 1211 21 diagnosis diagnosis NN cord-014712-5u4e00q6 1211 22 . . . cord-014712-5u4e00q6 1212 1 IgE IgE NNP cord-014712-5u4e00q6 1212 2 level level NN cord-014712-5u4e00q6 1212 3 is be VBZ cord-014712-5u4e00q6 1212 4 checked check VBN cord-014712-5u4e00q6 1212 5 to to TO cord-014712-5u4e00q6 1212 6 exclude exclude VB cord-014712-5u4e00q6 1212 7 other other JJ cord-014712-5u4e00q6 1212 8 disorders disorder NNS cord-014712-5u4e00q6 1212 9 . . . cord-014712-5u4e00q6 1213 1 IgG IgG NNP cord-014712-5u4e00q6 1213 2 subclass subclass NN cord-014712-5u4e00q6 1213 3 determinations determination NNS cord-014712-5u4e00q6 1213 4 are be VBP cord-014712-5u4e00q6 1213 5 indicated indicate VBN cord-014712-5u4e00q6 1213 6 if if IN cord-014712-5u4e00q6 1213 7 antibody antibody NN cord-014712-5u4e00q6 1213 8 titers titer NNS cord-014712-5u4e00q6 1213 9 are be VBP cord-014712-5u4e00q6 1213 10 decreased decrease VBN cord-014712-5u4e00q6 1213 11 but but CC cord-014712-5u4e00q6 1213 12 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1213 13 levels level NNS cord-014712-5u4e00q6 1213 14 are be VBP cord-014712-5u4e00q6 1213 15 near near IN cord-014712-5u4e00q6 1213 16 normal normal JJ cord-014712-5u4e00q6 1213 17 . . . cord-014712-5u4e00q6 1214 1 Hypogammaglobulinemia Hypogammaglobulinemia NNP cord-014712-5u4e00q6 1214 2 secondary secondary JJ cord-014712-5u4e00q6 1214 3 to to IN cord-014712-5u4e00q6 1214 4 other other JJ cord-014712-5u4e00q6 1214 5 disorders disorder NNS cord-014712-5u4e00q6 1214 6 should should MD cord-014712-5u4e00q6 1214 7 be be VB cord-014712-5u4e00q6 1214 8 excluded exclude VBN cord-014712-5u4e00q6 1214 9 . . . cord-014712-5u4e00q6 1215 1 Autoimmune autoimmune JJ cord-014712-5u4e00q6 1215 2 conditions condition NNS cord-014712-5u4e00q6 1215 3 can can MD cord-014712-5u4e00q6 1215 4 be be VB cord-014712-5u4e00q6 1215 5 the the DT cord-014712-5u4e00q6 1215 6 presenting present VBG cord-014712-5u4e00q6 1215 7 signs sign NNS cord-014712-5u4e00q6 1215 8 / / SYM cord-014712-5u4e00q6 1215 9 symptoms symptom NNS cord-014712-5u4e00q6 1215 10 in in IN cord-014712-5u4e00q6 1215 11 CVID CVID NNP cord-014712-5u4e00q6 1215 12 . . . cord-014712-5u4e00q6 1216 1 Autoimmune autoimmune JJ cord-014712-5u4e00q6 1216 2 hematologic hematologic JJ cord-014712-5u4e00q6 1216 3 disorders disorder NNS cord-014712-5u4e00q6 1216 4 may may MD cord-014712-5u4e00q6 1216 5 precede precede VB cord-014712-5u4e00q6 1216 6 , , , cord-014712-5u4e00q6 1216 7 present present JJ cord-014712-5u4e00q6 1216 8 at at IN cord-014712-5u4e00q6 1216 9 the the DT cord-014712-5u4e00q6 1216 10 time time NN cord-014712-5u4e00q6 1216 11 of of IN cord-014712-5u4e00q6 1216 12 diagnosis diagnosis NN cord-014712-5u4e00q6 1216 13 or or CC cord-014712-5u4e00q6 1216 14 develope develope VB cord-014712-5u4e00q6 1216 15 during during IN cord-014712-5u4e00q6 1216 16 the the DT cord-014712-5u4e00q6 1216 17 course course NN cord-014712-5u4e00q6 1216 18 of of IN cord-014712-5u4e00q6 1216 19 CVID CVID NNP cord-014712-5u4e00q6 1216 20 in in IN cord-014712-5u4e00q6 1216 21 approximately approximately RB cord-014712-5u4e00q6 1216 22 one one CD cord-014712-5u4e00q6 1216 23 - - HYPH cord-014712-5u4e00q6 1216 24 half half NN cord-014712-5u4e00q6 1216 25 of of IN cord-014712-5u4e00q6 1216 26 the the DT cord-014712-5u4e00q6 1216 27 patients patient NNS cord-014712-5u4e00q6 1216 28 with with IN cord-014712-5u4e00q6 1216 29 autoimmune autoimmune JJ cord-014712-5u4e00q6 1216 30 problems problem NNS cord-014712-5u4e00q6 1216 31 . . . cord-014712-5u4e00q6 1217 1 Selective selective JJ cord-014712-5u4e00q6 1217 2 immunoglobuline immunoglobuline JJ cord-014712-5u4e00q6 1217 3 deficiency deficiency NN cord-014712-5u4e00q6 1217 4 is be VBZ cord-014712-5u4e00q6 1217 5 an an DT cord-014712-5u4e00q6 1217 6 uncommon uncommon JJ cord-014712-5u4e00q6 1217 7 dysgamaglobulinemia dysgamaglobulinemia NN cord-014712-5u4e00q6 1217 8 , , , cord-014712-5u4e00q6 1217 9 in in IN cord-014712-5u4e00q6 1217 10 which which WDT cord-014712-5u4e00q6 1217 11 immunoglobuline immunoglobuline NNP cord-014712-5u4e00q6 1217 12 levels level NNS cord-014712-5u4e00q6 1217 13 except except IN cord-014712-5u4e00q6 1217 14 IgM IgM NNP cord-014712-5u4e00q6 1217 15 level level NN cord-014712-5u4e00q6 1217 16 are be VBP cord-014712-5u4e00q6 1217 17 normal normal JJ cord-014712-5u4e00q6 1217 18 . . . cord-014712-5u4e00q6 1218 1 It -PRON- PRP cord-014712-5u4e00q6 1218 2 can can MD cord-014712-5u4e00q6 1218 3 be be VB cord-014712-5u4e00q6 1218 4 primary primary JJ cord-014712-5u4e00q6 1218 5 or or CC cord-014712-5u4e00q6 1218 6 secondary secondary JJ cord-014712-5u4e00q6 1218 7 to to IN cord-014712-5u4e00q6 1218 8 cancer cancer NN cord-014712-5u4e00q6 1218 9 , , , cord-014712-5u4e00q6 1218 10 autoimmune autoimmune JJ cord-014712-5u4e00q6 1218 11 diseases disease NNS cord-014712-5u4e00q6 1218 12 , , , cord-014712-5u4e00q6 1218 13 gastrointestinal gastrointestinal JJ cord-014712-5u4e00q6 1218 14 system system NN cord-014712-5u4e00q6 1218 15 diseases disease NNS cord-014712-5u4e00q6 1218 16 and and CC cord-014712-5u4e00q6 1218 17 immunosuppressive immunosuppressive JJ cord-014712-5u4e00q6 1218 18 therapy therapy NN cord-014712-5u4e00q6 1218 19 . . . cord-014712-5u4e00q6 1219 1 Patients patient NNS cord-014712-5u4e00q6 1219 2 can can MD cord-014712-5u4e00q6 1219 3 be be VB cord-014712-5u4e00q6 1219 4 asymptomatic asymptomatic JJ cord-014712-5u4e00q6 1219 5 or or CC cord-014712-5u4e00q6 1219 6 have have VBP cord-014712-5u4e00q6 1219 7 recurrent recurrent JJ cord-014712-5u4e00q6 1219 8 infections infection NNS cord-014712-5u4e00q6 1219 9 , , , cord-014712-5u4e00q6 1219 10 asthma asthma NN cord-014712-5u4e00q6 1219 11 , , , cord-014712-5u4e00q6 1219 12 angioedema angioedema NN cord-014712-5u4e00q6 1219 13 , , , cord-014712-5u4e00q6 1219 14 autoimmune autoimmune JJ cord-014712-5u4e00q6 1219 15 diseases disease NNS cord-014712-5u4e00q6 1219 16 , , , cord-014712-5u4e00q6 1219 17 celiac celiac JJ cord-014712-5u4e00q6 1219 18 disease disease NN cord-014712-5u4e00q6 1219 19 and and CC cord-014712-5u4e00q6 1219 20 bronchiectasis bronchiectasis NN cord-014712-5u4e00q6 1219 21 . . . cord-014712-5u4e00q6 1220 1 Allergic allergic JJ cord-014712-5u4e00q6 1220 2 diatheses diathese NNS cord-014712-5u4e00q6 1220 3 are be VBP cord-014712-5u4e00q6 1220 4 the the DT cord-014712-5u4e00q6 1220 5 second second JJ cord-014712-5u4e00q6 1220 6 commonest common JJS cord-014712-5u4e00q6 1220 7 presentation presentation NN cord-014712-5u4e00q6 1220 8 of of IN cord-014712-5u4e00q6 1220 9 selective selective JJ cord-014712-5u4e00q6 1220 10 IgM IgM NNP cord-014712-5u4e00q6 1220 11 deficiency deficiency NN cord-014712-5u4e00q6 1220 12 . . . cord-014712-5u4e00q6 1221 1 In in IN cord-014712-5u4e00q6 1221 2 this this DT cord-014712-5u4e00q6 1221 3 presentation presentation NN cord-014712-5u4e00q6 1221 4 , , , cord-014712-5u4e00q6 1221 5 we -PRON- PRP cord-014712-5u4e00q6 1221 6 report report VBP cord-014712-5u4e00q6 1221 7 a a DT cord-014712-5u4e00q6 1221 8 case case NN cord-014712-5u4e00q6 1221 9 with with IN cord-014712-5u4e00q6 1221 10 asthma asthma NN cord-014712-5u4e00q6 1221 11 and and CC cord-014712-5u4e00q6 1221 12 angioedema angioedema NN cord-014712-5u4e00q6 1221 13 who who WP cord-014712-5u4e00q6 1221 14 has have VBZ cord-014712-5u4e00q6 1221 15 selective selective JJ cord-014712-5u4e00q6 1221 16 immunoglobuline immunoglobuline NNP cord-014712-5u4e00q6 1221 17 M M NNP cord-014712-5u4e00q6 1221 18 deficiency deficiency NN cord-014712-5u4e00q6 1221 19 . . . cord-014712-5u4e00q6 1222 1 A a DT cord-014712-5u4e00q6 1222 2 16 16 CD cord-014712-5u4e00q6 1222 3 year year NN cord-014712-5u4e00q6 1222 4 old old JJ cord-014712-5u4e00q6 1222 5 male male JJ cord-014712-5u4e00q6 1222 6 patient patient NN cord-014712-5u4e00q6 1222 7 who who WP cord-014712-5u4e00q6 1222 8 has have VBZ cord-014712-5u4e00q6 1222 9 been be VBN cord-014712-5u4e00q6 1222 10 diagnosed diagnose VBN cord-014712-5u4e00q6 1222 11 with with IN cord-014712-5u4e00q6 1222 12 asthma asthma NN cord-014712-5u4e00q6 1222 13 for for IN cord-014712-5u4e00q6 1222 14 12 12 CD cord-014712-5u4e00q6 1222 15 years year NNS cord-014712-5u4e00q6 1222 16 with with IN cord-014712-5u4e00q6 1222 17 a a DT cord-014712-5u4e00q6 1222 18 well well RB cord-014712-5u4e00q6 1222 19 controlled control VBN cord-014712-5u4e00q6 1222 20 asthma asthma NN cord-014712-5u4e00q6 1222 21 for for IN cord-014712-5u4e00q6 1222 22 2 2 CD cord-014712-5u4e00q6 1222 23 years year NNS cord-014712-5u4e00q6 1222 24 presented present VBN cord-014712-5u4e00q6 1222 25 with with IN cord-014712-5u4e00q6 1222 26 labial labial JJ cord-014712-5u4e00q6 1222 27 angioedema angioedema NN cord-014712-5u4e00q6 1222 28 . . . cord-014712-5u4e00q6 1223 1 He -PRON- PRP cord-014712-5u4e00q6 1223 2 had have VBD cord-014712-5u4e00q6 1223 3 labial labial JJ cord-014712-5u4e00q6 1223 4 angioedema angioedema NN cord-014712-5u4e00q6 1223 5 daily daily RB cord-014712-5u4e00q6 1223 6 without without IN cord-014712-5u4e00q6 1223 7 antihistamines antihistamine NNS cord-014712-5u4e00q6 1223 8 . . . cord-014712-5u4e00q6 1224 1 He -PRON- PRP cord-014712-5u4e00q6 1224 2 did do VBD cord-014712-5u4e00q6 1224 3 not not RB cord-014712-5u4e00q6 1224 4 have have VB cord-014712-5u4e00q6 1224 5 any any DT cord-014712-5u4e00q6 1224 6 suspected suspect VBN cord-014712-5u4e00q6 1224 7 food food NN cord-014712-5u4e00q6 1224 8 or or CC cord-014712-5u4e00q6 1224 9 drug drug NN cord-014712-5u4e00q6 1224 10 allergy allergy NN cord-014712-5u4e00q6 1224 11 . . . cord-014712-5u4e00q6 1225 1 He -PRON- PRP cord-014712-5u4e00q6 1225 2 did do VBD cord-014712-5u4e00q6 1225 3 not not RB cord-014712-5u4e00q6 1225 4 have have VB cord-014712-5u4e00q6 1225 5 family family NN cord-014712-5u4e00q6 1225 6 history history NN cord-014712-5u4e00q6 1225 7 of of IN cord-014712-5u4e00q6 1225 8 angioedema angioedema NN cord-014712-5u4e00q6 1225 9 . . . cord-014712-5u4e00q6 1226 1 Physical physical JJ cord-014712-5u4e00q6 1226 2 examination examination NN cord-014712-5u4e00q6 1226 3 was be VBD cord-014712-5u4e00q6 1226 4 normal normal JJ cord-014712-5u4e00q6 1226 5 under under IN cord-014712-5u4e00q6 1226 6 antihistamine antihistamine NN cord-014712-5u4e00q6 1226 7 therapy therapy NN cord-014712-5u4e00q6 1226 8 . . . cord-014712-5u4e00q6 1227 1 Laboratory laboratory NN cord-014712-5u4e00q6 1227 2 evaluation evaluation NN cord-014712-5u4e00q6 1227 3 revealed reveal VBD cord-014712-5u4e00q6 1227 4 a a DT cord-014712-5u4e00q6 1227 5 4.3 4.3 CD cord-014712-5u4e00q6 1227 6 % % NN cord-014712-5u4e00q6 1227 7 percentage percentage NN cord-014712-5u4e00q6 1227 8 of of IN cord-014712-5u4e00q6 1227 9 eosinophils eosinophil NNS cord-014712-5u4e00q6 1227 10 . . . cord-014712-5u4e00q6 1228 1 Absolute absolute JJ cord-014712-5u4e00q6 1228 2 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1228 3 count count NN cord-014712-5u4e00q6 1228 4 was be VBD cord-014712-5u4e00q6 1228 5 2700 2700 CD cord-014712-5u4e00q6 1228 6 , , , cord-014712-5u4e00q6 1228 7 absolute absolute JJ cord-014712-5u4e00q6 1228 8 neutrophil neutrophil NN cord-014712-5u4e00q6 1228 9 count count NN cord-014712-5u4e00q6 1228 10 was be VBD cord-014712-5u4e00q6 1228 11 7000 7000 CD cord-014712-5u4e00q6 1228 12 cells cell NNS cord-014712-5u4e00q6 1228 13 / / SYM cord-014712-5u4e00q6 1228 14 mm mm NN cord-014712-5u4e00q6 1228 15 3 3 CD cord-014712-5u4e00q6 1228 16 . . . cord-014712-5u4e00q6 1229 1 Immunoglobuline Immunoglobuline NNP cord-014712-5u4e00q6 1229 2 E e NN cord-014712-5u4e00q6 1229 3 value value NN cord-014712-5u4e00q6 1229 4 was be VBD cord-014712-5u4e00q6 1229 5 260 260 CD cord-014712-5u4e00q6 1229 6 ng ng NN cord-014712-5u4e00q6 1229 7 / / SYM cord-014712-5u4e00q6 1229 8 ml ml NN cord-014712-5u4e00q6 1229 9 , , , cord-014712-5u4e00q6 1229 10 levels level NNS cord-014712-5u4e00q6 1229 11 of of IN cord-014712-5u4e00q6 1229 12 immunoglobuline immunoglobuline NNP cord-014712-5u4e00q6 1229 13 G G NNP cord-014712-5u4e00q6 1229 14 and and CC cord-014712-5u4e00q6 1229 15 A A NNP cord-014712-5u4e00q6 1229 16 were be VBD cord-014712-5u4e00q6 1229 17 within within IN cord-014712-5u4e00q6 1229 18 normal normal JJ cord-014712-5u4e00q6 1229 19 limits limit NNS cord-014712-5u4e00q6 1229 20 for for IN cord-014712-5u4e00q6 1229 21 age age NN cord-014712-5u4e00q6 1229 22 . . . cord-014712-5u4e00q6 1230 1 Immunoglobulin Immunoglobulin NNP cord-014712-5u4e00q6 1230 2 M M NNP cord-014712-5u4e00q6 1230 3 value value NN cord-014712-5u4e00q6 1230 4 was be VBD cord-014712-5u4e00q6 1230 5 28.7 28.7 CD cord-014712-5u4e00q6 1230 6 mg mg NNP cord-014712-5u4e00q6 1230 7 / / SYM cord-014712-5u4e00q6 1230 8 dl dl NNP cord-014712-5u4e00q6 1230 9 ( ( -LRB- cord-014712-5u4e00q6 1230 10 73 73 CD cord-014712-5u4e00q6 1230 11 - - SYM cord-014712-5u4e00q6 1230 12 448 448 CD cord-014712-5u4e00q6 1230 13 ) ) -RRB- cord-014712-5u4e00q6 1230 14 . . . cord-014712-5u4e00q6 1231 1 Anti Anti NNP cord-014712-5u4e00q6 1231 2 A A NNP cord-014712-5u4e00q6 1231 3 was be VBD cord-014712-5u4e00q6 1231 4 1/8 1/8 CD cord-014712-5u4e00q6 1231 5 , , , cord-014712-5u4e00q6 1231 6 anti anti NNP cord-014712-5u4e00q6 1231 7 B B NNP cord-014712-5u4e00q6 1231 8 was be VBD cord-014712-5u4e00q6 1231 9 ½ ½ JJ cord-014712-5u4e00q6 1231 10 positive positive JJ cord-014712-5u4e00q6 1231 11 , , , cord-014712-5u4e00q6 1231 12 antiHbs antiHbs NNP cord-014712-5u4e00q6 1231 13 was be VBD cord-014712-5u4e00q6 1231 14 above above IN cord-014712-5u4e00q6 1231 15 1000 1000 CD cord-014712-5u4e00q6 1231 16 mlu mlu NNP cord-014712-5u4e00q6 1231 17 / / SYM cord-014712-5u4e00q6 1231 18 mL. mL. NNP cord-014712-5u4e00q6 1231 19 Lymphocyte Lymphocyte NNP cord-014712-5u4e00q6 1231 20 subsets subset NNS cord-014712-5u4e00q6 1231 21 were be VBD cord-014712-5u4e00q6 1231 22 normal normal JJ cord-014712-5u4e00q6 1231 23 . . . cord-014712-5u4e00q6 1232 1 Because because IN cord-014712-5u4e00q6 1232 2 of of IN cord-014712-5u4e00q6 1232 3 the the DT cord-014712-5u4e00q6 1232 4 continuous continuous JJ cord-014712-5u4e00q6 1232 5 usage usage NN cord-014712-5u4e00q6 1232 6 of of IN cord-014712-5u4e00q6 1232 7 antihistamines antihistamine NNS cord-014712-5u4e00q6 1232 8 , , , cord-014712-5u4e00q6 1232 9 prick prick NN cord-014712-5u4e00q6 1232 10 tests test NNS cord-014712-5u4e00q6 1232 11 could could MD cord-014712-5u4e00q6 1232 12 not not RB cord-014712-5u4e00q6 1232 13 be be VB cord-014712-5u4e00q6 1232 14 done do VBN cord-014712-5u4e00q6 1232 15 . . . cord-014712-5u4e00q6 1233 1 Levels level NNS cord-014712-5u4e00q6 1233 2 of of IN cord-014712-5u4e00q6 1233 3 D1 d1 NN cord-014712-5u4e00q6 1233 4 was17.8 was17.8 RB cord-014712-5u4e00q6 1233 5 , , , cord-014712-5u4e00q6 1233 6 D2 D2 NNP cord-014712-5u4e00q6 1233 7 was12.4 was12.4 NNP cord-014712-5u4e00q6 1233 8 kU kU NNP cord-014712-5u4e00q6 1234 1 A a DT cord-014712-5u4e00q6 1234 2 /l /l NN cord-014712-5u4e00q6 1234 3 . . . cord-014712-5u4e00q6 1235 1 Thyroid thyroid NN cord-014712-5u4e00q6 1235 2 functions function NNS cord-014712-5u4e00q6 1235 3 , , , cord-014712-5u4e00q6 1235 4 antiTPO antiTPO NNP cord-014712-5u4e00q6 1235 5 , , , cord-014712-5u4e00q6 1235 6 C3 C3 NNP cord-014712-5u4e00q6 1235 7 , , , cord-014712-5u4e00q6 1235 8 C4 C4 NNP cord-014712-5u4e00q6 1235 9 and and CC cord-014712-5u4e00q6 1235 10 C1 C1 NNP cord-014712-5u4e00q6 1236 1 esterase esterase NN cord-014712-5u4e00q6 1236 2 inhibitor inhibitor NN cord-014712-5u4e00q6 1236 3 values value NNS cord-014712-5u4e00q6 1236 4 were be VBD cord-014712-5u4e00q6 1236 5 normal normal JJ cord-014712-5u4e00q6 1236 6 . . . cord-014712-5u4e00q6 1237 1 Antinuclear antinuclear JJ cord-014712-5u4e00q6 1237 2 antibodies antibody NNS cord-014712-5u4e00q6 1237 3 and and CC cord-014712-5u4e00q6 1237 4 antitransglutaminase antitransglutaminase NNP cord-014712-5u4e00q6 1237 5 lgA lgA NNP cord-014712-5u4e00q6 1237 6 was be VBD cord-014712-5u4e00q6 1237 7 negative negative JJ cord-014712-5u4e00q6 1237 8 . . . cord-014712-5u4e00q6 1238 1 Immunoglobuline Immunoglobuline NNP cord-014712-5u4e00q6 1238 2 M M NNP cord-014712-5u4e00q6 1238 3 value value NN cord-014712-5u4e00q6 1238 4 of of IN cord-014712-5u4e00q6 1238 5 his -PRON- PRP$ cord-014712-5u4e00q6 1238 6 father father NN cord-014712-5u4e00q6 1238 7 was be VBD cord-014712-5u4e00q6 1238 8 normal normal JJ cord-014712-5u4e00q6 1238 9 , , , cord-014712-5u4e00q6 1238 10 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1238 11 M M NNP cord-014712-5u4e00q6 1238 12 value value NN cord-014712-5u4e00q6 1238 13 of of IN cord-014712-5u4e00q6 1238 14 his -PRON- PRP$ cord-014712-5u4e00q6 1238 15 brother brother NN cord-014712-5u4e00q6 1238 16 was be VBD cord-014712-5u4e00q6 1238 17 53.50 53.50 CD cord-014712-5u4e00q6 1238 18 mg mg NNP cord-014712-5u4e00q6 1238 19 / / SYM cord-014712-5u4e00q6 1238 20 dl dl NNP cord-014712-5u4e00q6 1238 21 ( ( -LRB- cord-014712-5u4e00q6 1238 22 88 88 CD cord-014712-5u4e00q6 1238 23 - - SYM cord-014712-5u4e00q6 1238 24 322 322 CD cord-014712-5u4e00q6 1238 25 ) ) -RRB- cord-014712-5u4e00q6 1238 26 . . . cord-014712-5u4e00q6 1239 1 Selective selective JJ cord-014712-5u4e00q6 1239 2 immunoglobuline immunoglobuline JJ cord-014712-5u4e00q6 1239 3 deficiency deficiency NN cord-014712-5u4e00q6 1239 4 is be VBZ cord-014712-5u4e00q6 1239 5 a a DT cord-014712-5u4e00q6 1239 6 rarely rarely RB cord-014712-5u4e00q6 1239 7 seen see VBN cord-014712-5u4e00q6 1239 8 dysgamaglobulinemia dysgamaglobulinemia NN cord-014712-5u4e00q6 1239 9 . . . cord-014712-5u4e00q6 1240 1 It -PRON- PRP cord-014712-5u4e00q6 1240 2 was be VBD cord-014712-5u4e00q6 1240 3 reported report VBN cord-014712-5u4e00q6 1240 4 in in IN cord-014712-5u4e00q6 1240 5 children child NNS cord-014712-5u4e00q6 1240 6 with with IN cord-014712-5u4e00q6 1240 7 asthma asthma NN cord-014712-5u4e00q6 1240 8 , , , cord-014712-5u4e00q6 1240 9 but but CC cord-014712-5u4e00q6 1240 10 it -PRON- PRP cord-014712-5u4e00q6 1240 11 was be VBD cord-014712-5u4e00q6 1240 12 not not RB cord-014712-5u4e00q6 1240 13 reported report VBN cord-014712-5u4e00q6 1240 14 in in IN cord-014712-5u4e00q6 1240 15 children child NNS cord-014712-5u4e00q6 1240 16 with with IN cord-014712-5u4e00q6 1240 17 angioedema angioedema NN cord-014712-5u4e00q6 1240 18 . . . cord-014712-5u4e00q6 1241 1 It -PRON- PRP cord-014712-5u4e00q6 1241 2 can can MD cord-014712-5u4e00q6 1241 3 have have VB cord-014712-5u4e00q6 1241 4 value value NN cord-014712-5u4e00q6 1241 5 in in IN cord-014712-5u4e00q6 1241 6 the the DT cord-014712-5u4e00q6 1241 7 clinical clinical JJ cord-014712-5u4e00q6 1241 8 evaluation evaluation NN cord-014712-5u4e00q6 1241 9 of of IN cord-014712-5u4e00q6 1241 10 patients patient NNS cord-014712-5u4e00q6 1241 11 with with IN cord-014712-5u4e00q6 1241 12 angioedema angioedema NN cord-014712-5u4e00q6 1241 13 . . . cord-014712-5u4e00q6 1242 1 Cukurova Cukurova NNP cord-014712-5u4e00q6 1242 2 University University NNP cord-014712-5u4e00q6 1242 3 , , , cord-014712-5u4e00q6 1242 4 Department Department NNP cord-014712-5u4e00q6 1242 5 of of IN cord-014712-5u4e00q6 1242 6 Pediatric Pediatric NNP cord-014712-5u4e00q6 1242 7 Allergy Allergy NNP cord-014712-5u4e00q6 1242 8 and and CC cord-014712-5u4e00q6 1242 9 Immunology Immunology NNP cord-014712-5u4e00q6 1242 10 , , , cord-014712-5u4e00q6 1242 11 Adana Adana NNP cord-014712-5u4e00q6 1242 12 , , , cord-014712-5u4e00q6 1242 13 Turkey Turkey NNP cord-014712-5u4e00q6 1242 14 A a DT cord-014712-5u4e00q6 1242 15 patient patient NN cord-014712-5u4e00q6 1242 16 who who WP cord-014712-5u4e00q6 1242 17 is be VBZ cord-014712-5u4e00q6 1242 18 at at IN cord-014712-5u4e00q6 1242 19 age age NN cord-014712-5u4e00q6 1242 20 of of IN cord-014712-5u4e00q6 1242 21 11 11 CD cord-014712-5u4e00q6 1242 22 years year NNS cord-014712-5u4e00q6 1242 23 at at IN cord-014712-5u4e00q6 1242 24 present present NN cord-014712-5u4e00q6 1242 25 and and CC cord-014712-5u4e00q6 1242 26 who who WP cord-014712-5u4e00q6 1242 27 has have VBZ cord-014712-5u4e00q6 1242 28 been be VBN cord-014712-5u4e00q6 1242 29 followed follow VBN cord-014712-5u4e00q6 1242 30 up up RP cord-014712-5u4e00q6 1242 31 at at IN cord-014712-5u4e00q6 1242 32 the the DT cord-014712-5u4e00q6 1242 33 our -PRON- PRP$ cord-014712-5u4e00q6 1242 34 clinic clinic NN cord-014712-5u4e00q6 1242 35 with with IN cord-014712-5u4e00q6 1242 36 XLA XLA NNP cord-014712-5u4e00q6 1242 37 diagnosis diagnosis NN cord-014712-5u4e00q6 1242 38 presented present VBN cord-014712-5u4e00q6 1242 39 with with IN cord-014712-5u4e00q6 1242 40 pain pain NN cord-014712-5u4e00q6 1242 41 in in IN cord-014712-5u4e00q6 1242 42 his -PRON- PRP$ cord-014712-5u4e00q6 1242 43 ankles ankle NNS cord-014712-5u4e00q6 1242 44 and and CC cord-014712-5u4e00q6 1242 45 wrists wrist NNS cord-014712-5u4e00q6 1242 46 and and CC cord-014712-5u4e00q6 1242 47 swelling swelling NN cord-014712-5u4e00q6 1242 48 of of IN cord-014712-5u4e00q6 1242 49 his -PRON- PRP$ cord-014712-5u4e00q6 1242 50 right right JJ cord-014712-5u4e00q6 1242 51 knee knee NN cord-014712-5u4e00q6 1242 52 . . . cord-014712-5u4e00q6 1243 1 He -PRON- PRP cord-014712-5u4e00q6 1243 2 also also RB cord-014712-5u4e00q6 1243 3 was be VBD cord-014712-5u4e00q6 1243 4 suffering suffer VBG cord-014712-5u4e00q6 1243 5 from from IN cord-014712-5u4e00q6 1243 6 skin skin NN cord-014712-5u4e00q6 1243 7 tightening tightening NN cord-014712-5u4e00q6 1243 8 of of IN cord-014712-5u4e00q6 1243 9 the the DT cord-014712-5u4e00q6 1243 10 lower low JJR cord-014712-5u4e00q6 1243 11 extremities extremity NNS cord-014712-5u4e00q6 1243 12 . . . cord-014712-5u4e00q6 1244 1 His -PRON- PRP$ cord-014712-5u4e00q6 1244 2 physical physical JJ cord-014712-5u4e00q6 1244 3 examination examination NN cord-014712-5u4e00q6 1244 4 revealed reveal VBD cord-014712-5u4e00q6 1244 5 arthitis arthitis NN cord-014712-5u4e00q6 1244 6 of of IN cord-014712-5u4e00q6 1244 7 the the DT cord-014712-5u4e00q6 1244 8 right right JJ cord-014712-5u4e00q6 1244 9 knee knee NN cord-014712-5u4e00q6 1244 10 and and CC cord-014712-5u4e00q6 1244 11 sclerotic sclerotic JJ cord-014712-5u4e00q6 1244 12 changes change NNS cord-014712-5u4e00q6 1244 13 were be VBD cord-014712-5u4e00q6 1244 14 detected detect VBN cord-014712-5u4e00q6 1244 15 in in IN cord-014712-5u4e00q6 1244 16 the the DT cord-014712-5u4e00q6 1244 17 skin skin NN cord-014712-5u4e00q6 1244 18 . . . cord-014712-5u4e00q6 1245 1 Skin skin NN cord-014712-5u4e00q6 1245 2 biopsy biopsy NN cord-014712-5u4e00q6 1245 3 was be VBD cord-014712-5u4e00q6 1245 4 performed perform VBN cord-014712-5u4e00q6 1245 5 and and CC cord-014712-5u4e00q6 1245 6 it -PRON- PRP cord-014712-5u4e00q6 1245 7 revealed reveal VBD cord-014712-5u4e00q6 1245 8 morphea morphea NNP cord-014712-5u4e00q6 1245 9 ( ( -LRB- cord-014712-5u4e00q6 1245 10 localized localized JJ cord-014712-5u4e00q6 1245 11 scleroderma scleroderma NNS cord-014712-5u4e00q6 1245 12 ) ) -RRB- cord-014712-5u4e00q6 1245 13 . . . cord-014712-5u4e00q6 1246 1 After after IN cord-014712-5u4e00q6 1246 2 the the DT cord-014712-5u4e00q6 1246 3 diagnosis diagnosis NN cord-014712-5u4e00q6 1246 4 of of IN cord-014712-5u4e00q6 1246 5 morphea morphea NN cord-014712-5u4e00q6 1246 6 and and CC cord-014712-5u4e00q6 1246 7 arthritis arthritis NN cord-014712-5u4e00q6 1246 8 , , , cord-014712-5u4e00q6 1246 9 IVIG IVIG NNP cord-014712-5u4e00q6 1246 10 2 2 CD cord-014712-5u4e00q6 1246 11 gm gm NNP cord-014712-5u4e00q6 1246 12 / / SYM cord-014712-5u4e00q6 1246 13 kg kg NNP cord-014712-5u4e00q6 1246 14 and and CC cord-014712-5u4e00q6 1246 15 NSAID NSAID NNP cord-014712-5u4e00q6 1246 16 were be VBD cord-014712-5u4e00q6 1246 17 applied apply VBN cord-014712-5u4e00q6 1246 18 . . . cord-014712-5u4e00q6 1247 1 Following follow VBG cord-014712-5u4e00q6 1247 2 the the DT cord-014712-5u4e00q6 1247 3 treatment treatment NN cord-014712-5u4e00q6 1247 4 skin skin NN cord-014712-5u4e00q6 1247 5 findings finding NNS cord-014712-5u4e00q6 1247 6 and and CC cord-014712-5u4e00q6 1247 7 arthritis arthritis NN cord-014712-5u4e00q6 1247 8 resolved resolve VBD cord-014712-5u4e00q6 1247 9 , , , cord-014712-5u4e00q6 1247 10 however however RB cord-014712-5u4e00q6 1247 11 approximately approximately RB cord-014712-5u4e00q6 1247 12 two two CD cord-014712-5u4e00q6 1247 13 months month NNS cord-014712-5u4e00q6 1247 14 later later IN cord-014712-5u4e00q6 1247 15 liver liver NN cord-014712-5u4e00q6 1247 16 enzymes enzyme NNS cord-014712-5u4e00q6 1247 17 were be VBD cord-014712-5u4e00q6 1247 18 detected detect VBN cord-014712-5u4e00q6 1247 19 to to TO cord-014712-5u4e00q6 1247 20 be be VB cord-014712-5u4e00q6 1247 21 high high JJ cord-014712-5u4e00q6 1247 22 in in IN cord-014712-5u4e00q6 1247 23 his -PRON- PRP$ cord-014712-5u4e00q6 1247 24 routine routine JJ cord-014712-5u4e00q6 1247 25 control control NN cord-014712-5u4e00q6 1247 26 . . . cord-014712-5u4e00q6 1248 1 Liver liver NN cord-014712-5u4e00q6 1248 2 biopsy biopsy NN cord-014712-5u4e00q6 1248 3 performed perform VBN cord-014712-5u4e00q6 1248 4 to to TO cord-014712-5u4e00q6 1248 5 clarify clarify VB cord-014712-5u4e00q6 1248 6 the the DT cord-014712-5u4e00q6 1248 7 aetiology aetiology NN cord-014712-5u4e00q6 1248 8 of of IN cord-014712-5u4e00q6 1248 9 elevated elevated JJ cord-014712-5u4e00q6 1248 10 liver liver NN cord-014712-5u4e00q6 1248 11 enzymes enzyme NNS cord-014712-5u4e00q6 1248 12 was be VBD cord-014712-5u4e00q6 1248 13 reported report VBN cord-014712-5u4e00q6 1248 14 as as IN cord-014712-5u4e00q6 1248 15 autoimmune autoimmune JJ cord-014712-5u4e00q6 1248 16 hepatitis hepatitis NNP cord-014712-5u4e00q6 1248 17 . . . cord-014712-5u4e00q6 1249 1 In in IN cord-014712-5u4e00q6 1249 2 addition addition NN cord-014712-5u4e00q6 1249 3 to to IN cord-014712-5u4e00q6 1249 4 IVIG IVIG NNP cord-014712-5u4e00q6 1249 5 2 2 CD cord-014712-5u4e00q6 1249 6 gm gm NNP cord-014712-5u4e00q6 1249 7 / / SYM cord-014712-5u4e00q6 1249 8 kg kg NNP cord-014712-5u4e00q6 1249 9 , , , cord-014712-5u4e00q6 1249 10 budenofalk budenofalk NNP cord-014712-5u4e00q6 1249 11 6mg 6mg NNP cord-014712-5u4e00q6 1249 12 / / SYM cord-014712-5u4e00q6 1249 13 day day NN cord-014712-5u4e00q6 1249 14 was be VBD cord-014712-5u4e00q6 1249 15 started start VBN cord-014712-5u4e00q6 1249 16 . . . cord-014712-5u4e00q6 1250 1 After after IN cord-014712-5u4e00q6 1250 2 3 3 CD cord-014712-5u4e00q6 1250 3 months month NNS cord-014712-5u4e00q6 1250 4 of of IN cord-014712-5u4e00q6 1250 5 treatment treatment NN cord-014712-5u4e00q6 1250 6 , , , cord-014712-5u4e00q6 1250 7 his -PRON- PRP$ cord-014712-5u4e00q6 1250 8 liver liver NN cord-014712-5u4e00q6 1250 9 enzymes enzyme NNS cord-014712-5u4e00q6 1250 10 normalized normalize VBN cord-014712-5u4e00q6 1250 11 . . . cord-014712-5u4e00q6 1251 1 Currently currently RB cord-014712-5u4e00q6 1251 2 he -PRON- PRP cord-014712-5u4e00q6 1251 3 is be VBZ cord-014712-5u4e00q6 1251 4 being be VBG cord-014712-5u4e00q6 1251 5 treated treat VBN cord-014712-5u4e00q6 1251 6 with with IN cord-014712-5u4e00q6 1251 7 IVIG IVIG NNP cord-014712-5u4e00q6 1251 8 monthly monthly JJ cord-014712-5u4e00q6 1251 9 and and CC cord-014712-5u4e00q6 1251 10 ursofalk ursofalk JJ cord-014712-5u4e00q6 1251 11 daily daily RB cord-014712-5u4e00q6 1251 12 . . . cord-014712-5u4e00q6 1252 1 Patients patient NNS cord-014712-5u4e00q6 1252 2 with with IN cord-014712-5u4e00q6 1252 3 XLA XLA NNP cord-014712-5u4e00q6 1252 4 typically typically RB cord-014712-5u4e00q6 1252 5 present present JJ cord-014712-5u4e00q6 1252 6 with with IN cord-014712-5u4e00q6 1252 7 recurrent recurrent JJ cord-014712-5u4e00q6 1252 8 bacterial bacterial JJ cord-014712-5u4e00q6 1252 9 infections infection NNS cord-014712-5u4e00q6 1252 10 and and CC cord-014712-5u4e00q6 1252 11 it -PRON- PRP cord-014712-5u4e00q6 1252 12 might may MD cord-014712-5u4e00q6 1252 13 be be VB cord-014712-5u4e00q6 1252 14 associated associate VBN cord-014712-5u4e00q6 1252 15 with with IN cord-014712-5u4e00q6 1252 16 some some DT cord-014712-5u4e00q6 1252 17 autoimmune autoimmune JJ cord-014712-5u4e00q6 1252 18 diseases disease NNS cord-014712-5u4e00q6 1252 19 . . . cord-014712-5u4e00q6 1253 1 There there EX cord-014712-5u4e00q6 1253 2 are be VBP cord-014712-5u4e00q6 1253 3 not not RB cord-014712-5u4e00q6 1253 4 any any DT cord-014712-5u4e00q6 1253 5 reports report NNS cord-014712-5u4e00q6 1253 6 indicating indicate VBG cord-014712-5u4e00q6 1253 7 an an DT cord-014712-5u4e00q6 1253 8 associaton associaton NNP cord-014712-5u4e00q6 1253 9 of of IN cord-014712-5u4e00q6 1253 10 autoimmune autoimmune NNP cord-014712-5u4e00q6 1253 11 hepatitis hepatitis NNP cord-014712-5u4e00q6 1253 12 and and CC cord-014712-5u4e00q6 1253 13 scleroderma scleroderma NNS cord-014712-5u4e00q6 1253 14 with with IN cord-014712-5u4e00q6 1253 15 XLA XLA NNP cord-014712-5u4e00q6 1253 16 . . . cord-014712-5u4e00q6 1254 1 Bruton Bruton NNP cord-014712-5u4e00q6 1254 2 agammaglobulinemia agammaglobulinemia NNP cord-014712-5u4e00q6 1254 3 is be VBZ cord-014712-5u4e00q6 1254 4 an an DT cord-014712-5u4e00q6 1254 5 inherited inherit VBN cord-014712-5u4e00q6 1254 6 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1254 7 disease disease NN cord-014712-5u4e00q6 1254 8 caused cause VBN cord-014712-5u4e00q6 1254 9 by by IN cord-014712-5u4e00q6 1254 10 mutations mutation NNS cord-014712-5u4e00q6 1254 11 in in IN cord-014712-5u4e00q6 1254 12 the the DT cord-014712-5u4e00q6 1254 13 gene gene NN cord-014712-5u4e00q6 1254 14 coding coding NN cord-014712-5u4e00q6 1254 15 for for IN cord-014712-5u4e00q6 1254 16 Bruton Bruton NNP cord-014712-5u4e00q6 1254 17 tyrosine tyrosine NN cord-014712-5u4e00q6 1254 18 kinase kinase NN cord-014712-5u4e00q6 1254 19 ( ( -LRB- cord-014712-5u4e00q6 1254 20 BTK BTK NNP cord-014712-5u4e00q6 1254 21 ) ) -RRB- cord-014712-5u4e00q6 1254 22 . . . cord-014712-5u4e00q6 1255 1 The the DT cord-014712-5u4e00q6 1255 2 median median JJ cord-014712-5u4e00q6 1255 3 age age NN cord-014712-5u4e00q6 1255 4 at at IN cord-014712-5u4e00q6 1255 5 the the DT cord-014712-5u4e00q6 1255 6 diagnosis diagnosis NN cord-014712-5u4e00q6 1255 7 of of IN cord-014712-5u4e00q6 1255 8 the the DT cord-014712-5u4e00q6 1255 9 antibody antibody NN cord-014712-5u4e00q6 1255 10 deficiency deficiency NN cord-014712-5u4e00q6 1255 11 is be VBZ cord-014712-5u4e00q6 1255 12 about about IN cord-014712-5u4e00q6 1255 13 4.6 4.6 CD cord-014712-5u4e00q6 1255 14 years year NNS cord-014712-5u4e00q6 1255 15 in in IN cord-014712-5u4e00q6 1255 16 Turkey Turkey NNP cord-014712-5u4e00q6 1255 17 . . . cord-014712-5u4e00q6 1256 1 Here here RB cord-014712-5u4e00q6 1256 2 , , , cord-014712-5u4e00q6 1256 3 we -PRON- PRP cord-014712-5u4e00q6 1256 4 report report VBP cord-014712-5u4e00q6 1256 5 a a DT cord-014712-5u4e00q6 1256 6 case case NN cord-014712-5u4e00q6 1256 7 of of IN cord-014712-5u4e00q6 1256 8 Bruton Bruton NNP cord-014712-5u4e00q6 1256 9 Disease Disease NNP cord-014712-5u4e00q6 1256 10 presenting present VBG cord-014712-5u4e00q6 1256 11 with with IN cord-014712-5u4e00q6 1256 12 recurrent recurrent JJ cord-014712-5u4e00q6 1256 13 cervical cervical JJ cord-014712-5u4e00q6 1256 14 abscess abscess NN cord-014712-5u4e00q6 1256 15 at at IN cord-014712-5u4e00q6 1256 16 two two CD cord-014712-5u4e00q6 1256 17 months month NNS cord-014712-5u4e00q6 1256 18 old old JJ cord-014712-5u4e00q6 1256 19 infant infant NN cord-014712-5u4e00q6 1256 20 . . . cord-014712-5u4e00q6 1257 1 A a DT cord-014712-5u4e00q6 1257 2 2-months 2-months CD cord-014712-5u4e00q6 1257 3 - - HYPH cord-014712-5u4e00q6 1257 4 old old JJ cord-014712-5u4e00q6 1257 5 boy boy NN cord-014712-5u4e00q6 1257 6 was be VBD cord-014712-5u4e00q6 1257 7 firstly firstly RB cord-014712-5u4e00q6 1257 8 hospitalized hospitalize VBN cord-014712-5u4e00q6 1257 9 for for IN cord-014712-5u4e00q6 1257 10 the the DT cord-014712-5u4e00q6 1257 11 treatment treatment NN cord-014712-5u4e00q6 1257 12 of of IN cord-014712-5u4e00q6 1257 13 the the DT cord-014712-5u4e00q6 1257 14 right right JJ cord-014712-5u4e00q6 1257 15 cervical cervical JJ cord-014712-5u4e00q6 1257 16 abscess abscess NN cord-014712-5u4e00q6 1257 17 at at IN cord-014712-5u4e00q6 1257 18 25 25 CD cord-014712-5u4e00q6 1257 19 days day NNS cord-014712-5u4e00q6 1257 20 old old JJ cord-014712-5u4e00q6 1257 21 . . . cord-014712-5u4e00q6 1258 1 After after IN cord-014712-5u4e00q6 1258 2 the the DT cord-014712-5u4e00q6 1258 3 recurrence recurrence NN cord-014712-5u4e00q6 1258 4 of of IN cord-014712-5u4e00q6 1258 5 swelling swell VBG cord-014712-5u4e00q6 1258 6 on on IN cord-014712-5u4e00q6 1258 7 the the DT cord-014712-5u4e00q6 1258 8 cervical cervical JJ cord-014712-5u4e00q6 1258 9 area area NN cord-014712-5u4e00q6 1258 10 , , , cord-014712-5u4e00q6 1258 11 the the DT cord-014712-5u4e00q6 1258 12 patient patient NN cord-014712-5u4e00q6 1258 13 was be VBD cord-014712-5u4e00q6 1258 14 referred refer VBN cord-014712-5u4e00q6 1258 15 to to IN cord-014712-5u4e00q6 1258 16 the the DT cord-014712-5u4e00q6 1258 17 admitted admit VBN cord-014712-5u4e00q6 1258 18 to to IN cord-014712-5u4e00q6 1258 19 hospital hospital NN cord-014712-5u4e00q6 1258 20 secondly secondly RB cord-014712-5u4e00q6 1258 21 . . . cord-014712-5u4e00q6 1259 1 There there EX cord-014712-5u4e00q6 1259 2 was be VBD cord-014712-5u4e00q6 1259 3 no no DT cord-014712-5u4e00q6 1259 4 consanguinity consanguinity NN cord-014712-5u4e00q6 1259 5 between between IN cord-014712-5u4e00q6 1259 6 parents parent NNS cord-014712-5u4e00q6 1259 7 and and CC cord-014712-5u4e00q6 1259 8 , , , cord-014712-5u4e00q6 1259 9 his -PRON- PRP$ cord-014712-5u4e00q6 1259 10 family family NN cord-014712-5u4e00q6 1259 11 history history NN cord-014712-5u4e00q6 1259 12 was be VBD cord-014712-5u4e00q6 1259 13 unremarkable unremarkable JJ cord-014712-5u4e00q6 1259 14 except except IN cord-014712-5u4e00q6 1259 15 four four CD cord-014712-5u4e00q6 1259 16 of of IN cord-014712-5u4e00q6 1259 17 the the DT cord-014712-5u4e00q6 1259 18 mother mother NN cord-014712-5u4e00q6 1259 19 's 's POS cord-014712-5u4e00q6 1259 20 cousins cousin NNS cord-014712-5u4e00q6 1259 21 , , , cord-014712-5u4e00q6 1259 22 died die VBD cord-014712-5u4e00q6 1259 23 because because IN cord-014712-5u4e00q6 1259 24 of of IN cord-014712-5u4e00q6 1259 25 unknown unknown JJ cord-014712-5u4e00q6 1259 26 etiology etiology NN cord-014712-5u4e00q6 1259 27 in in IN cord-014712-5u4e00q6 1259 28 infancy infancy NN cord-014712-5u4e00q6 1259 29 . . . cord-014712-5u4e00q6 1260 1 On on IN cord-014712-5u4e00q6 1260 2 his -PRON- PRP$ cord-014712-5u4e00q6 1260 3 physical physical JJ cord-014712-5u4e00q6 1260 4 examination examination NN cord-014712-5u4e00q6 1260 5 , , , cord-014712-5u4e00q6 1260 6 his -PRON- PRP$ cord-014712-5u4e00q6 1260 7 weight weight NN cord-014712-5u4e00q6 1260 8 , , , cord-014712-5u4e00q6 1260 9 height height NNP cord-014712-5u4e00q6 1260 10 andhead andhead NNP cord-014712-5u4e00q6 1260 11 circumference circumference NN cord-014712-5u4e00q6 1260 12 were be VBD cord-014712-5u4e00q6 1260 13 normal normal JJ cord-014712-5u4e00q6 1260 14 range range NN cord-014712-5u4e00q6 1260 15 by by IN cord-014712-5u4e00q6 1260 16 age age NN cord-014712-5u4e00q6 1260 17 . . . cord-014712-5u4e00q6 1261 1 There there EX cord-014712-5u4e00q6 1261 2 were be VBD cord-014712-5u4e00q6 1261 3 no no DT cord-014712-5u4e00q6 1261 4 visible visible JJ cord-014712-5u4e00q6 1261 5 tonsils tonsil NNS cord-014712-5u4e00q6 1261 6 . . . cord-014712-5u4e00q6 1262 1 There there EX cord-014712-5u4e00q6 1262 2 was be VBD cord-014712-5u4e00q6 1262 3 a a DT cord-014712-5u4e00q6 1262 4 palpable palpable JJ cord-014712-5u4e00q6 1262 5 , , , cord-014712-5u4e00q6 1262 6 mobile mobile JJ cord-014712-5u4e00q6 1262 7 1x1 1x1 NNP cord-014712-5u4e00q6 1262 8 cm cm NN cord-014712-5u4e00q6 1262 9 mass mass NN cord-014712-5u4e00q6 1262 10 on on IN cord-014712-5u4e00q6 1262 11 right right JJ cord-014712-5u4e00q6 1262 12 upper upper JJ cord-014712-5u4e00q6 1262 13 cervical cervical JJ cord-014712-5u4e00q6 1262 14 area area NN cord-014712-5u4e00q6 1262 15 . . . cord-014712-5u4e00q6 1263 1 The the DT cord-014712-5u4e00q6 1263 2 Molecular Molecular NNP cord-014712-5u4e00q6 1263 3 analysis analysis NN cord-014712-5u4e00q6 1263 4 of of IN cord-014712-5u4e00q6 1263 5 the the DT cord-014712-5u4e00q6 1263 6 causal causal JJ cord-014712-5u4e00q6 1263 7 gene gene NN cord-014712-5u4e00q6 1263 8 for for IN cord-014712-5u4e00q6 1263 9 Bruton Bruton NNP cord-014712-5u4e00q6 1263 10 's 's POS cord-014712-5u4e00q6 1263 11 tyrosine tyrosine NN cord-014712-5u4e00q6 1263 12 kinase kinase NN cord-014712-5u4e00q6 1263 13 ( ( -LRB- cord-014712-5u4e00q6 1263 14 BTK BTK NNP cord-014712-5u4e00q6 1263 15 gene gene NN cord-014712-5u4e00q6 1263 16 ) ) -RRB- cord-014712-5u4e00q6 1263 17 revealed reveal VBD cord-014712-5u4e00q6 1263 18 the the DT cord-014712-5u4e00q6 1263 19 mutation mutation NN cord-014712-5u4e00q6 1263 20 in in IN cord-014712-5u4e00q6 1263 21 exon exon NN cord-014712-5u4e00q6 1263 22 19 19 CD cord-014712-5u4e00q6 1263 23 . . . cord-014712-5u4e00q6 1264 1 This this DT cord-014712-5u4e00q6 1264 2 mutation mutation NN cord-014712-5u4e00q6 1264 3 g.67662delG g.67662delG NNP cord-014712-5u4e00q6 1264 4 ( ( -LRB- cord-014712-5u4e00q6 1264 5 c.1750 c.1750 NNP cord-014712-5u4e00q6 1264 6 + + SYM cord-014712-5u4e00q6 1264 7 57del 57del NN cord-014712-5u4e00q6 1264 8 ) ) -RRB- cord-014712-5u4e00q6 1264 9 leads lead VBZ cord-014712-5u4e00q6 1264 10 to to IN cord-014712-5u4e00q6 1264 11 the the DT cord-014712-5u4e00q6 1264 12 changes change NNS cord-014712-5u4e00q6 1264 13 of of IN cord-014712-5u4e00q6 1264 14 amino amino NN cord-014712-5u4e00q6 1264 15 acid acid NN cord-014712-5u4e00q6 1264 16 order order NN cord-014712-5u4e00q6 1264 17 in in IN cord-014712-5u4e00q6 1264 18 the the DT cord-014712-5u4e00q6 1264 19 protein protein NN cord-014712-5u4e00q6 1264 20 with with IN cord-014712-5u4e00q6 1264 21 the the DT cord-014712-5u4e00q6 1264 22 subsequent subsequent JJ cord-014712-5u4e00q6 1264 23 changes change NNS cord-014712-5u4e00q6 1264 24 in in IN cord-014712-5u4e00q6 1264 25 activity activity NN cord-014712-5u4e00q6 1264 26 of of IN cord-014712-5u4e00q6 1264 27 BTK BTK NNP cord-014712-5u4e00q6 1264 28 ( ( -LRB- cord-014712-5u4e00q6 1264 29 at at IN cord-014712-5u4e00q6 1264 30 the the DT cord-014712-5u4e00q6 1264 31 level level NN cord-014712-5u4e00q6 1264 32 of of IN cord-014712-5u4e00q6 1264 33 DNA dna NN cord-014712-5u4e00q6 1264 34 : : : cord-014712-5u4e00q6 1264 35 substitution substitution NN cord-014712-5u4e00q6 1264 36 of of IN cord-014712-5u4e00q6 1264 37 glutamic glutamic NN cord-014712-5u4e00q6 1264 38 acid acid NN cord-014712-5u4e00q6 1264 39 ( ( -LRB- cord-014712-5u4e00q6 1264 40 p. p. NN cord-014712-5u4e00q6 1265 1 Glu507 glu507 LS cord-014712-5u4e00q6 1265 2 * * NFP cord-014712-5u4e00q6 1265 3 ) ) -RRB- cord-014712-5u4e00q6 1265 4 causes cause VBZ cord-014712-5u4e00q6 1265 5 non non JJ cord-014712-5u4e00q6 1265 6 - - JJ cord-014712-5u4e00q6 1265 7 sense sense JJ cord-014712-5u4e00q6 1265 8 mutation mutation NN cord-014712-5u4e00q6 1265 9 leading lead VBG cord-014712-5u4e00q6 1265 10 to to IN cord-014712-5u4e00q6 1265 11 the the DT cord-014712-5u4e00q6 1265 12 formation formation NN cord-014712-5u4e00q6 1265 13 of of IN cord-014712-5u4e00q6 1265 14 stop stop NN cord-014712-5u4e00q6 1265 15 codon codon NN cord-014712-5u4e00q6 1265 16 with with IN cord-014712-5u4e00q6 1265 17 premature premature JJ cord-014712-5u4e00q6 1265 18 end end NN cord-014712-5u4e00q6 1265 19 of of IN cord-014712-5u4e00q6 1265 20 DNA dna NN cord-014712-5u4e00q6 1265 21 transcription transcription NN cord-014712-5u4e00q6 1265 22 to to TO cord-014712-5u4e00q6 1265 23 cause cause VB cord-014712-5u4e00q6 1265 24 STOP STOP NNP cord-014712-5u4e00q6 1265 25 codon codon NN cord-014712-5u4e00q6 1265 26 . . . cord-014712-5u4e00q6 1266 1 After after IN cord-014712-5u4e00q6 1266 2 initiating initiate VBG cord-014712-5u4e00q6 1266 3 the the DT cord-014712-5u4e00q6 1266 4 intravenous intravenous JJ cord-014712-5u4e00q6 1266 5 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1266 6 with with IN cord-014712-5u4e00q6 1266 7 antibiotics antibiotic NNS cord-014712-5u4e00q6 1266 8 , , , cord-014712-5u4e00q6 1266 9 the the DT cord-014712-5u4e00q6 1266 10 cervical cervical JJ cord-014712-5u4e00q6 1266 11 mass mass NN cord-014712-5u4e00q6 1266 12 was be VBD cord-014712-5u4e00q6 1266 13 getting get VBG cord-014712-5u4e00q6 1266 14 smaller small JJR cord-014712-5u4e00q6 1266 15 in in IN cord-014712-5u4e00q6 1266 16 a a DT cord-014712-5u4e00q6 1266 17 short short JJ cord-014712-5u4e00q6 1266 18 period period NN cord-014712-5u4e00q6 1266 19 , , , cord-014712-5u4e00q6 1266 20 and and CC cord-014712-5u4e00q6 1266 21 had have VBD cord-014712-5u4e00q6 1266 22 not not RB cord-014712-5u4e00q6 1266 23 observed observe VBN cord-014712-5u4e00q6 1266 24 again again RB cord-014712-5u4e00q6 1266 25 . . . cord-014712-5u4e00q6 1267 1 Neutropenia neutropenia NN cord-014712-5u4e00q6 1267 2 was be VBD cord-014712-5u4e00q6 1267 3 improved improve VBN cord-014712-5u4e00q6 1267 4 within within IN cord-014712-5u4e00q6 1267 5 the the DT cord-014712-5u4e00q6 1267 6 3 3 CD cord-014712-5u4e00q6 1267 7 months month NNS cord-014712-5u4e00q6 1267 8 . . . cord-014712-5u4e00q6 1268 1 This this DT cord-014712-5u4e00q6 1268 2 case case NN cord-014712-5u4e00q6 1268 3 is be VBZ cord-014712-5u4e00q6 1268 4 an an DT cord-014712-5u4e00q6 1268 5 important important JJ cord-014712-5u4e00q6 1268 6 example example NN cord-014712-5u4e00q6 1268 7 to to TO cord-014712-5u4e00q6 1268 8 diagnose diagnose VB cord-014712-5u4e00q6 1268 9 Bruton Bruton NNP cord-014712-5u4e00q6 1268 10 Disease Disease NNP cord-014712-5u4e00q6 1268 11 in in IN cord-014712-5u4e00q6 1268 12 early early JJ cord-014712-5u4e00q6 1268 13 life life NN cord-014712-5u4e00q6 1268 14 . . . cord-014712-5u4e00q6 1269 1 It -PRON- PRP cord-014712-5u4e00q6 1269 2 demonstrates demonstrate VBZ cord-014712-5u4e00q6 1269 3 that that IN cord-014712-5u4e00q6 1269 4 maintaining maintain VBG cord-014712-5u4e00q6 1269 5 a a DT cord-014712-5u4e00q6 1269 6 high high JJ cord-014712-5u4e00q6 1269 7 level level NN cord-014712-5u4e00q6 1269 8 of of IN cord-014712-5u4e00q6 1269 9 clinical clinical JJ cord-014712-5u4e00q6 1269 10 suspicion suspicion NN cord-014712-5u4e00q6 1269 11 is be VBZ cord-014712-5u4e00q6 1269 12 essential essential JJ cord-014712-5u4e00q6 1269 13 for for IN cord-014712-5u4e00q6 1269 14 the the DT cord-014712-5u4e00q6 1269 15 diagnosis diagnosis NN cord-014712-5u4e00q6 1269 16 of of IN cord-014712-5u4e00q6 1269 17 Bruton Bruton NNP cord-014712-5u4e00q6 1269 18 Disease Disease NNP cord-014712-5u4e00q6 1269 19 in in IN cord-014712-5u4e00q6 1269 20 a a DT cord-014712-5u4e00q6 1269 21 child child NN cord-014712-5u4e00q6 1269 22 with with IN cord-014712-5u4e00q6 1269 23 recurrent recurrent JJ cord-014712-5u4e00q6 1269 24 cervical cervical JJ cord-014712-5u4e00q6 1269 25 masses masse NNS cord-014712-5u4e00q6 1269 26 . . . cord-014712-5u4e00q6 1270 1 Elif Elif NNP cord-014712-5u4e00q6 1270 2 Azarsiz Azarsiz NNP cord-014712-5u4e00q6 1270 3 ; ; : cord-014712-5u4e00q6 1270 4 Neslihan Neslihan NNP cord-014712-5u4e00q6 1270 5 Edeer Edeer NNP cord-014712-5u4e00q6 1270 6 Karaca Karaca NNP cord-014712-5u4e00q6 1270 7 ; ; : cord-014712-5u4e00q6 1270 8 Guzide Guzide NNP cord-014712-5u4e00q6 1270 9 Aksu Aksu NNP cord-014712-5u4e00q6 1270 10 ; ; : cord-014712-5u4e00q6 1270 11 Necil Necil NNP cord-014712-5u4e00q6 1270 12 Kutukculer Kutukculer NNP cord-014712-5u4e00q6 1270 13 Ege Ege NNP cord-014712-5u4e00q6 1270 14 University University NNP cord-014712-5u4e00q6 1270 15 Faculty Faculty NNP cord-014712-5u4e00q6 1270 16 of of IN cord-014712-5u4e00q6 1270 17 Medicine Medicine NNP cord-014712-5u4e00q6 1270 18 , , , cord-014712-5u4e00q6 1270 19 Department Department NNP cord-014712-5u4e00q6 1270 20 of of IN cord-014712-5u4e00q6 1270 21 Pediatric Pediatric NNP cord-014712-5u4e00q6 1270 22 Immunology Immunology NNP cord-014712-5u4e00q6 1270 23 , , , cord-014712-5u4e00q6 1270 24 Izmir Izmir NNP cord-014712-5u4e00q6 1270 25 , , , cord-014712-5u4e00q6 1270 26 Turkey Turkey NNP cord-014712-5u4e00q6 1270 27 Transient transient JJ cord-014712-5u4e00q6 1270 28 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 1270 29 of of IN cord-014712-5u4e00q6 1270 30 infancy infancy NN cord-014712-5u4e00q6 1271 1 ( ( -LRB- cord-014712-5u4e00q6 1271 2 THI THI NNP cord-014712-5u4e00q6 1271 3 ) ) -RRB- cord-014712-5u4e00q6 1271 4 is be VBZ cord-014712-5u4e00q6 1271 5 characterized characterize VBN cord-014712-5u4e00q6 1271 6 by by IN cord-014712-5u4e00q6 1271 7 recurrent recurrent JJ cord-014712-5u4e00q6 1271 8 infections infection NNS cord-014712-5u4e00q6 1271 9 and and CC cord-014712-5u4e00q6 1271 10 reduced reduce VBN cord-014712-5u4e00q6 1271 11 serum serum NN cord-014712-5u4e00q6 1271 12 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1271 13 levels level NNS cord-014712-5u4e00q6 1271 14 . . . cord-014712-5u4e00q6 1272 1 Typically typically RB cord-014712-5u4e00q6 1272 2 , , , cord-014712-5u4e00q6 1272 3 THI THI NNP cord-014712-5u4e00q6 1272 4 patients patient NNS cord-014712-5u4e00q6 1272 5 recover recover VBP cord-014712-5u4e00q6 1272 6 spontaneously spontaneously RB cord-014712-5u4e00q6 1272 7 , , , cord-014712-5u4e00q6 1272 8 mostly mostly RB cord-014712-5u4e00q6 1272 9 within within IN cord-014712-5u4e00q6 1272 10 30 30 CD cord-014712-5u4e00q6 1272 11 - - SYM cord-014712-5u4e00q6 1272 12 40 40 CD cord-014712-5u4e00q6 1272 13 months month NNS cord-014712-5u4e00q6 1272 14 of of IN cord-014712-5u4e00q6 1272 15 age age NN cord-014712-5u4e00q6 1272 16 , , , cord-014712-5u4e00q6 1272 17 but but CC cord-014712-5u4e00q6 1272 18 sometimes sometimes RB cord-014712-5u4e00q6 1272 19 recovery recovery NN cord-014712-5u4e00q6 1272 20 may may MD cord-014712-5u4e00q6 1272 21 be be VB cord-014712-5u4e00q6 1272 22 delayed delay VBN cord-014712-5u4e00q6 1272 23 until until IN cord-014712-5u4e00q6 1272 24 5 5 CD cord-014712-5u4e00q6 1272 25 - - SYM cord-014712-5u4e00q6 1272 26 6 6 CD cord-014712-5u4e00q6 1272 27 years year NNS cord-014712-5u4e00q6 1272 28 . . . cord-014712-5u4e00q6 1273 1 The the DT cord-014712-5u4e00q6 1273 2 use use NN cord-014712-5u4e00q6 1273 3 of of IN cord-014712-5u4e00q6 1273 4 intravenous intravenous JJ cord-014712-5u4e00q6 1273 5 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1273 6 ( ( -LRB- cord-014712-5u4e00q6 1273 7 IVIg ivig ADD cord-014712-5u4e00q6 1273 8 ) ) -RRB- cord-014712-5u4e00q6 1273 9 as as IN cord-014712-5u4e00q6 1273 10 an an DT cord-014712-5u4e00q6 1273 11 alternative alternative NN cord-014712-5u4e00q6 1273 12 to to IN cord-014712-5u4e00q6 1273 13 antibiotic antibiotic JJ cord-014712-5u4e00q6 1273 14 prophylaxis prophylaxis NN cord-014712-5u4e00q6 1273 15 remains remain VBZ cord-014712-5u4e00q6 1273 16 contraversial contraversial JJ cord-014712-5u4e00q6 1273 17 also also RB cord-014712-5u4e00q6 1273 18 in in IN cord-014712-5u4e00q6 1273 19 symptomatic symptomatic JJ cord-014712-5u4e00q6 1273 20 patients patient NNS cord-014712-5u4e00q6 1273 21 . . . cord-014712-5u4e00q6 1274 1 Some some DT cord-014712-5u4e00q6 1274 2 authors author NNS cord-014712-5u4e00q6 1274 3 believe believe VBP cord-014712-5u4e00q6 1274 4 that that IN cord-014712-5u4e00q6 1274 5 IVIg ivig VBP cord-014712-5u4e00q6 1274 6 therapy therapy NN cord-014712-5u4e00q6 1274 7 may may MD cord-014712-5u4e00q6 1274 8 cause cause VB cord-014712-5u4e00q6 1274 9 a a DT cord-014712-5u4e00q6 1274 10 delay delay NN cord-014712-5u4e00q6 1274 11 in in IN cord-014712-5u4e00q6 1274 12 the the DT cord-014712-5u4e00q6 1274 13 maturation maturation NN cord-014712-5u4e00q6 1274 14 of of IN cord-014712-5u4e00q6 1274 15 the the DT cord-014712-5u4e00q6 1274 16 humoral humoral JJ cord-014712-5u4e00q6 1274 17 immune immune JJ cord-014712-5u4e00q6 1274 18 system system NN cord-014712-5u4e00q6 1274 19 because because IN cord-014712-5u4e00q6 1274 20 of of IN cord-014712-5u4e00q6 1274 21 the the DT cord-014712-5u4e00q6 1274 22 interference interference NN cord-014712-5u4e00q6 1274 23 from from IN cord-014712-5u4e00q6 1274 24 passively passively RB cord-014712-5u4e00q6 1274 25 transfered transfer VBN cord-014712-5u4e00q6 1274 26 antibodies antibody NNS cord-014712-5u4e00q6 1274 27 . . . cord-014712-5u4e00q6 1275 1 The the DT cord-014712-5u4e00q6 1275 2 aim aim NN cord-014712-5u4e00q6 1275 3 of of IN cord-014712-5u4e00q6 1275 4 this this DT cord-014712-5u4e00q6 1275 5 study study NN cord-014712-5u4e00q6 1275 6 was be VBD cord-014712-5u4e00q6 1275 7 to to TO cord-014712-5u4e00q6 1275 8 investigate investigate VB cord-014712-5u4e00q6 1275 9 the the DT cord-014712-5u4e00q6 1275 10 effect effect NN cord-014712-5u4e00q6 1275 11 of of IN cord-014712-5u4e00q6 1275 12 IVIg ivig JJ cord-014712-5u4e00q6 1275 13 replacement replacement NN cord-014712-5u4e00q6 1275 14 on on IN cord-014712-5u4e00q6 1275 15 recovery recovery NN cord-014712-5u4e00q6 1275 16 from from IN cord-014712-5u4e00q6 1275 17 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1275 18 in in IN cord-014712-5u4e00q6 1275 19 these these DT cord-014712-5u4e00q6 1275 20 patients patient NNS cord-014712-5u4e00q6 1275 21 . . . cord-014712-5u4e00q6 1276 1 43 43 CD cord-014712-5u4e00q6 1276 2 patients patient NNS cord-014712-5u4e00q6 1276 3 ( ( -LRB- cord-014712-5u4e00q6 1276 4 65 65 CD cord-014712-5u4e00q6 1276 5 % % NN cord-014712-5u4e00q6 1276 6 ) ) -RRB- cord-014712-5u4e00q6 1276 7 received receive VBD cord-014712-5u4e00q6 1276 8 IVIg ivig NN cord-014712-5u4e00q6 1276 9 therapy therapy NN cord-014712-5u4e00q6 1276 10 while while IN cord-014712-5u4e00q6 1276 11 23 23 CD cord-014712-5u4e00q6 1276 12 patients patient NNS cord-014712-5u4e00q6 1276 13 ( ( -LRB- cord-014712-5u4e00q6 1276 14 34.8 34.8 CD cord-014712-5u4e00q6 1276 15 % % NN cord-014712-5u4e00q6 1276 16 ) ) -RRB- cord-014712-5u4e00q6 1276 17 showed show VBD cord-014712-5u4e00q6 1276 18 spontaneous spontaneous JJ cord-014712-5u4e00q6 1276 19 normalization normalization NN cord-014712-5u4e00q6 1276 20 without without IN cord-014712-5u4e00q6 1276 21 IVIg IVIg NNP cord-014712-5u4e00q6 1276 22 . . . cord-014712-5u4e00q6 1277 1 The the DT cord-014712-5u4e00q6 1277 2 percentages percentage NNS cord-014712-5u4e00q6 1277 3 of of IN cord-014712-5u4e00q6 1277 4 patients patient NNS cord-014712-5u4e00q6 1277 5 who who WP cord-014712-5u4e00q6 1277 6 had have VBD cord-014712-5u4e00q6 1277 7 more more JJR cord-014712-5u4e00q6 1277 8 than than IN cord-014712-5u4e00q6 1277 9 six six CD cord-014712-5u4e00q6 1277 10 times time NNS cord-014712-5u4e00q6 1277 11 the the DT cord-014712-5u4e00q6 1277 12 number number NN cord-014712-5u4e00q6 1277 13 of of IN cord-014712-5u4e00q6 1277 14 febrile febrile JJ cord-014712-5u4e00q6 1277 15 infections infection NNS cord-014712-5u4e00q6 1277 16 in in IN cord-014712-5u4e00q6 1277 17 a a DT cord-014712-5u4e00q6 1277 18 year year NN cord-014712-5u4e00q6 1277 19 decreased decrease VBD cord-014712-5u4e00q6 1277 20 from from IN cord-014712-5u4e00q6 1277 21 91 91 CD cord-014712-5u4e00q6 1277 22 % % NN cord-014712-5u4e00q6 1277 23 to to TO cord-014712-5u4e00q6 1277 24 21 21 CD cord-014712-5u4e00q6 1277 25 % % NN cord-014712-5u4e00q6 1277 26 in in IN cord-014712-5u4e00q6 1277 27 the the DT cord-014712-5u4e00q6 1277 28 group group NN cord-014712-5u4e00q6 1277 29 receiving receive VBG cord-014712-5u4e00q6 1277 30 IVIg ivig JJ cord-014712-5u4e00q6 1277 31 treatment treatment NN cord-014712-5u4e00q6 1277 32 . . . cord-014712-5u4e00q6 1278 1 At at IN cord-014712-5u4e00q6 1278 2 admission admission NN cord-014712-5u4e00q6 1278 3 , , , cord-014712-5u4e00q6 1278 4 before before IN cord-014712-5u4e00q6 1278 5 being be VBG cord-014712-5u4e00q6 1278 6 recruited recruit VBN cord-014712-5u4e00q6 1278 7 to to IN cord-014712-5u4e00q6 1278 8 IVIg ivig VB cord-014712-5u4e00q6 1278 9 therapy therapy NN cord-014712-5u4e00q6 1278 10 , , , cord-014712-5u4e00q6 1278 11 serum serum NN cord-014712-5u4e00q6 1278 12 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1278 13 G G NNP cord-014712-5u4e00q6 1278 14 ( ( -LRB- cord-014712-5u4e00q6 1278 15 IgG IgG NNP cord-014712-5u4e00q6 1278 16 ) ) -RRB- cord-014712-5u4e00q6 1278 17 levels level NNS cord-014712-5u4e00q6 1278 18 and and CC cord-014712-5u4e00q6 1278 19 anti anti JJ cord-014712-5u4e00q6 1278 20 - - JJ cord-014712-5u4e00q6 1278 21 hemophilus hemophilus JJ cord-014712-5u4e00q6 1278 22 B b NN cord-014712-5u4e00q6 1278 23 ( ( -LRB- cord-014712-5u4e00q6 1278 24 Hib Hib NNP cord-014712-5u4e00q6 1278 25 ) ) -RRB- cord-014712-5u4e00q6 1278 26 antibody antibody NN cord-014712-5u4e00q6 1278 27 titers titer NNS cord-014712-5u4e00q6 1278 28 were be VBD cord-014712-5u4e00q6 1278 29 found find VBN cord-014712-5u4e00q6 1278 30 to to TO cord-014712-5u4e00q6 1278 31 be be VB cord-014712-5u4e00q6 1278 32 significantly significantly RB cord-014712-5u4e00q6 1278 33 low low JJ cord-014712-5u4e00q6 1278 34 in in IN cord-014712-5u4e00q6 1278 35 cases case NNS cord-014712-5u4e00q6 1278 36 who who WP cord-014712-5u4e00q6 1278 37 were be VBD cord-014712-5u4e00q6 1278 38 selected select VBN cord-014712-5u4e00q6 1278 39 for for IN cord-014712-5u4e00q6 1278 40 replacement replacement NN cord-014712-5u4e00q6 1278 41 . . . cord-014712-5u4e00q6 1279 1 The the DT cord-014712-5u4e00q6 1279 2 percentages percentage NNS cord-014712-5u4e00q6 1279 3 of of IN cord-014712-5u4e00q6 1279 4 patients patient NNS cord-014712-5u4e00q6 1279 5 who who WP cord-014712-5u4e00q6 1279 6 did do VBD cord-014712-5u4e00q6 1279 7 not not RB cord-014712-5u4e00q6 1279 8 have have VB cord-014712-5u4e00q6 1279 9 protective protective JJ cord-014712-5u4e00q6 1279 10 levels level NNS cord-014712-5u4e00q6 1279 11 of of IN cord-014712-5u4e00q6 1279 12 anti anti JJ cord-014712-5u4e00q6 1279 13 - - JJ cord-014712-5u4e00q6 1279 14 Hib Hib NNP cord-014712-5u4e00q6 1279 15 , , , cord-014712-5u4e00q6 1279 16 anti anti JJ cord-014712-5u4e00q6 1279 17 - - JJ cord-014712-5u4e00q6 1279 18 rubella rubella JJ cord-014712-5u4e00q6 1279 19 or or CC cord-014712-5u4e00q6 1279 20 anti anti JJ cord-014712-5u4e00q6 1279 21 - - JJ cord-014712-5u4e00q6 1279 22 rubeola rubeola JJ cord-014712-5u4e00q6 1279 23 - - HYPH cord-014712-5u4e00q6 1279 24 IgG IgG NNP cord-014712-5u4e00q6 1279 25 were be VBD cord-014712-5u4e00q6 1279 26 also also RB cord-014712-5u4e00q6 1279 27 significantly significantly RB cord-014712-5u4e00q6 1279 28 high high JJ cord-014712-5u4e00q6 1279 29 in in IN cord-014712-5u4e00q6 1279 30 IVIg ivig JJ cord-014712-5u4e00q6 1279 31 cases case NNS cord-014712-5u4e00q6 1279 32 . . . cord-014712-5u4e00q6 1280 1 There there EX cord-014712-5u4e00q6 1280 2 was be VBD cord-014712-5u4e00q6 1280 3 no no DT cord-014712-5u4e00q6 1280 4 statistically statistically RB cord-014712-5u4e00q6 1280 5 significant significant JJ cord-014712-5u4e00q6 1280 6 difference difference NN cord-014712-5u4e00q6 1280 7 in in IN cord-014712-5u4e00q6 1280 8 the the DT cord-014712-5u4e00q6 1280 9 age age NN cord-014712-5u4e00q6 1280 10 at at IN cord-014712-5u4e00q6 1280 11 which which WDT cord-014712-5u4e00q6 1280 12 IgG IgG NNP cord-014712-5u4e00q6 1280 13 levels level NNS cord-014712-5u4e00q6 1280 14 normalized normalize VBN cord-014712-5u4e00q6 1280 15 between between IN cord-014712-5u4e00q6 1280 16 both both DT cord-014712-5u4e00q6 1280 17 groups group NNS cord-014712-5u4e00q6 1280 18 . . . cord-014712-5u4e00q6 1281 1 Patients patient NNS cord-014712-5u4e00q6 1281 2 in in IN cord-014712-5u4e00q6 1281 3 the the DT cord-014712-5u4e00q6 1281 4 IVIg IVIg NNP cord-014712-5u4e00q6 1281 5 group group NN cord-014712-5u4e00q6 1281 6 and and CC cord-014712-5u4e00q6 1281 7 non non JJ cord-014712-5u4e00q6 1281 8 - - JJ cord-014712-5u4e00q6 1281 9 IVIg ivig JJ cord-014712-5u4e00q6 1281 10 group group NN cord-014712-5u4e00q6 1281 11 reached reach VBD cord-014712-5u4e00q6 1281 12 normal normal JJ cord-014712-5u4e00q6 1281 13 IgG igg NN cord-014712-5u4e00q6 1281 14 levels level NNS cord-014712-5u4e00q6 1281 15 at at IN cord-014712-5u4e00q6 1281 16 the the DT cord-014712-5u4e00q6 1281 17 age age NN cord-014712-5u4e00q6 1281 18 of of IN cord-014712-5u4e00q6 1281 19 42.9 42.9 CD cord-014712-5u4e00q6 1281 20 ± ± CD cord-014712-5u4e00q6 1281 21 22.0 22.0 CD cord-014712-5u4e00q6 1281 22 and and CC cord-014712-5u4e00q6 1281 23 40.7 40.7 CD cord-014712-5u4e00q6 1281 24 ± ± CD cord-014712-5u4e00q6 1281 25 19.8 19.8 CD cord-014712-5u4e00q6 1281 26 months month NNS cord-014712-5u4e00q6 1281 27 , , , cord-014712-5u4e00q6 1281 28 respectively respectively RB cord-014712-5u4e00q6 1281 29 . . . cord-014712-5u4e00q6 1282 1 In in IN cord-014712-5u4e00q6 1282 2 conclusion conclusion NN cord-014712-5u4e00q6 1282 3 , , , cord-014712-5u4e00q6 1282 4 IVIg ivig JJ cord-014712-5u4e00q6 1282 5 infusions infusion NNS cord-014712-5u4e00q6 1282 6 do do VBP cord-014712-5u4e00q6 1282 7 not not RB cord-014712-5u4e00q6 1282 8 cause cause VB cord-014712-5u4e00q6 1282 9 a a DT cord-014712-5u4e00q6 1282 10 delay delay NN cord-014712-5u4e00q6 1282 11 in in IN cord-014712-5u4e00q6 1282 12 the the DT cord-014712-5u4e00q6 1282 13 maturation maturation NN cord-014712-5u4e00q6 1282 14 of of IN cord-014712-5u4e00q6 1282 15 the the DT cord-014712-5u4e00q6 1282 16 immune immune JJ cord-014712-5u4e00q6 1282 17 system system NN cord-014712-5u4e00q6 1282 18 in in IN cord-014712-5u4e00q6 1282 19 THI THI NNP cord-014712-5u4e00q6 1282 20 patients patient NNS cord-014712-5u4e00q6 1282 21 . . . cord-014712-5u4e00q6 1283 1 The the DT cord-014712-5u4e00q6 1283 2 very very RB cord-014712-5u4e00q6 1283 3 low low JJ cord-014712-5u4e00q6 1283 4 and and CC cord-014712-5u4e00q6 1283 5 non non JJ cord-014712-5u4e00q6 1283 6 - - JJ cord-014712-5u4e00q6 1283 7 protective protective JJ cord-014712-5u4e00q6 1283 8 specific specific JJ cord-014712-5u4e00q6 1283 9 antibody antibody NN cord-014712-5u4e00q6 1283 10 responses response NNS cord-014712-5u4e00q6 1283 11 against against IN cord-014712-5u4e00q6 1283 12 previously previously RB cord-014712-5u4e00q6 1283 13 applied apply VBN cord-014712-5u4e00q6 1283 14 vaccines vaccine NNS cord-014712-5u4e00q6 1283 15 are be VBP cord-014712-5u4e00q6 1283 16 important important JJ cord-014712-5u4e00q6 1283 17 factors factor NNS cord-014712-5u4e00q6 1283 18 to to TO cord-014712-5u4e00q6 1283 19 consider consider VB cord-014712-5u4e00q6 1283 20 when when WRB cord-014712-5u4e00q6 1283 21 selecting select VBG cord-014712-5u4e00q6 1283 22 patients patient NNS cord-014712-5u4e00q6 1283 23 for for IN cord-014712-5u4e00q6 1283 24 IVIg ivig JJ cord-014712-5u4e00q6 1283 25 therapy therapy NN cord-014712-5u4e00q6 1283 26 . . . cord-014712-5u4e00q6 1284 1 Zoltán Zoltán NNP cord-014712-5u4e00q6 1284 2 Ellenes Ellenes NNP cord-014712-5u4e00q6 1284 3 - - HYPH cord-014712-5u4e00q6 1284 4 Jakabffy Jakabffy NNP cord-014712-5u4e00q6 1284 5 1 1 CD cord-014712-5u4e00q6 1284 6 ; ; : cord-014712-5u4e00q6 1284 7 Ibolya Ibolya NNP cord-014712-5u4e00q6 1284 8 Kovács Kovács NNP cord-014712-5u4e00q6 1284 9 1 1 CD cord-014712-5u4e00q6 1284 10 ; ; : cord-014712-5u4e00q6 1285 1 Mihaela Mihaela NNP cord-014712-5u4e00q6 1285 2 Bătăneanţ Bătăneanţ NNP cord-014712-5u4e00q6 1285 3 2 2 CD cord-014712-5u4e00q6 1285 4 ; ; : cord-014712-5u4e00q6 1285 5 Maria Maria NNP cord-014712-5u4e00q6 1285 6 Cucuruz Cucuruz NNP cord-014712-5u4e00q6 1285 7 2 2 CD cord-014712-5u4e00q6 1285 8 ; ; : cord-014712-5u4e00q6 1285 9 Margit Margit NNP cord-014712-5u4e00q6 1285 10 Şerban Şerban NNP cord-014712-5u4e00q6 1285 11 2 2 CD cord-014712-5u4e00q6 1285 12 ; ; : cord-014712-5u4e00q6 1285 13 László László NNP cord-014712-5u4e00q6 1285 14 Maródi Maródi NNP cord-014712-5u4e00q6 1285 15 3 3 CD cord-014712-5u4e00q6 1285 16 1 1 CD cord-014712-5u4e00q6 1285 17 Department Department NNP cord-014712-5u4e00q6 1285 18 of of IN cord-014712-5u4e00q6 1285 19 Pediatrics Pediatrics NNP cord-014712-5u4e00q6 1285 20 , , , cord-014712-5u4e00q6 1285 21 Clinical Clinical NNP cord-014712-5u4e00q6 1285 22 City City NNP cord-014712-5u4e00q6 1285 23 Hospital Hospital NNP cord-014712-5u4e00q6 1285 24 Oradea Oradea NNP cord-014712-5u4e00q6 1285 25 , , , cord-014712-5u4e00q6 1285 26 Romania Romania NNP cord-014712-5u4e00q6 1285 27 . . . cord-014712-5u4e00q6 1286 1 Objective objective NN cord-014712-5u4e00q6 1286 2 : : : cord-014712-5u4e00q6 1287 1 To to TO cord-014712-5u4e00q6 1287 2 study study VB cord-014712-5u4e00q6 1287 3 the the DT cord-014712-5u4e00q6 1287 4 amplitude amplitude NN cord-014712-5u4e00q6 1287 5 of of IN cord-014712-5u4e00q6 1287 6 the the DT cord-014712-5u4e00q6 1287 7 chronic chronic JJ cord-014712-5u4e00q6 1287 8 inflammatory inflammatory JJ cord-014712-5u4e00q6 1287 9 phenomena phenomenon NNS cord-014712-5u4e00q6 1287 10 : : : cord-014712-5u4e00q6 1287 11 atopic atopic JJ cord-014712-5u4e00q6 1287 12 and and CC cord-014712-5u4e00q6 1287 13 autoimmune autoimmune JJ cord-014712-5u4e00q6 1287 14 diseases disease NNS cord-014712-5u4e00q6 1287 15 , , , cord-014712-5u4e00q6 1287 16 as as RB cord-014712-5u4e00q6 1287 17 well well RB cord-014712-5u4e00q6 1287 18 as as IN cord-014712-5u4e00q6 1287 19 their -PRON- PRP$ cord-014712-5u4e00q6 1287 20 associations association NNS cord-014712-5u4e00q6 1287 21 in in IN cord-014712-5u4e00q6 1287 22 pediatric pediatric JJ cord-014712-5u4e00q6 1287 23 sIgAD sIgAD NNS cord-014712-5u4e00q6 1287 24 patients patient NNS cord-014712-5u4e00q6 1287 25 and and CC cord-014712-5u4e00q6 1287 26 to to TO cord-014712-5u4e00q6 1287 27 study study VB cord-014712-5u4e00q6 1287 28 the the DT cord-014712-5u4e00q6 1287 29 sIgAD sIgAD NNP cord-014712-5u4e00q6 1287 30 patients patient NNS cord-014712-5u4e00q6 1287 31 ' ' POS cord-014712-5u4e00q6 1287 32 family family NN cord-014712-5u4e00q6 1287 33 history history NN cord-014712-5u4e00q6 1287 34 ( ( -LRB- cord-014712-5u4e00q6 1287 35 1 1 CD cord-014712-5u4e00q6 1287 36 st st NNP cord-014712-5u4e00q6 1287 37 degree degree NN cord-014712-5u4e00q6 1287 38 relatives relative NNS cord-014712-5u4e00q6 1287 39 ) ) -RRB- cord-014712-5u4e00q6 1287 40 for for IN cord-014712-5u4e00q6 1287 41 PIDs PIDs NNPS cord-014712-5u4e00q6 1287 42 ( ( -LRB- cord-014712-5u4e00q6 1287 43 primary primary JJ cord-014712-5u4e00q6 1287 44 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 1287 45 ) ) -RRB- cord-014712-5u4e00q6 1287 46 . . . cord-014712-5u4e00q6 1288 1 Methods method NNS cord-014712-5u4e00q6 1288 2 : : : cord-014712-5u4e00q6 1288 3 Retrospective retrospective JJ cord-014712-5u4e00q6 1288 4 analysis analysis NN cord-014712-5u4e00q6 1288 5 of of IN cord-014712-5u4e00q6 1288 6 the the DT cord-014712-5u4e00q6 1288 7 clinical clinical JJ cord-014712-5u4e00q6 1288 8 and and CC cord-014712-5u4e00q6 1288 9 laboratory laboratory NN cord-014712-5u4e00q6 1288 10 records record NNS cord-014712-5u4e00q6 1288 11 of of IN cord-014712-5u4e00q6 1288 12 pediatric pediatric JJ cord-014712-5u4e00q6 1288 13 sIgAD sIgAD NNS cord-014712-5u4e00q6 1288 14 patients patient NNS cord-014712-5u4e00q6 1288 15 diagnosed diagnose VBN cord-014712-5u4e00q6 1288 16 between between IN cord-014712-5u4e00q6 1288 17 1998 1998 CD cord-014712-5u4e00q6 1288 18 and and CC cord-014712-5u4e00q6 1288 19 2013 2013 CD cord-014712-5u4e00q6 1288 20 at at IN cord-014712-5u4e00q6 1288 21 the the DT cord-014712-5u4e00q6 1288 22 departments department NNS cord-014712-5u4e00q6 1288 23 for for IN cord-014712-5u4e00q6 1288 24 Pediatric Pediatric NNP cord-014712-5u4e00q6 1288 25 Immunology Immunology NNP cord-014712-5u4e00q6 1288 26 of of IN cord-014712-5u4e00q6 1288 27 the the DT cord-014712-5u4e00q6 1288 28 Medical Medical NNP cord-014712-5u4e00q6 1288 29 Universities Universities NNPS cord-014712-5u4e00q6 1288 30 of of IN cord-014712-5u4e00q6 1288 31 Debrecen Debrecen NNP cord-014712-5u4e00q6 1288 32 ( ( -LRB- cord-014712-5u4e00q6 1288 33 Hungary Hungary NNP cord-014712-5u4e00q6 1288 34 ) ) -RRB- cord-014712-5u4e00q6 1288 35 , , , cord-014712-5u4e00q6 1288 36 Oradea Oradea NNP cord-014712-5u4e00q6 1288 37 and and CC cord-014712-5u4e00q6 1288 38 Timişoara Timişoara NNP cord-014712-5u4e00q6 1288 39 ( ( -LRB- cord-014712-5u4e00q6 1288 40 Romania Romania NNP cord-014712-5u4e00q6 1288 41 ) ) -RRB- cord-014712-5u4e00q6 1288 42 . . . cord-014712-5u4e00q6 1289 1 Results result NNS cord-014712-5u4e00q6 1289 2 : : : cord-014712-5u4e00q6 1290 1 Out out IN cord-014712-5u4e00q6 1290 2 of of IN cord-014712-5u4e00q6 1290 3 148 148 CD cord-014712-5u4e00q6 1290 4 patients patient NNS cord-014712-5u4e00q6 1290 5 , , , cord-014712-5u4e00q6 1290 6 we -PRON- PRP cord-014712-5u4e00q6 1290 7 found find VBD cord-014712-5u4e00q6 1290 8 out out RP cord-014712-5u4e00q6 1290 9 74 74 CD cord-014712-5u4e00q6 1290 10 ( ( -LRB- cord-014712-5u4e00q6 1290 11 50 50 CD cord-014712-5u4e00q6 1290 12 % % NN cord-014712-5u4e00q6 1290 13 ) ) -RRB- cord-014712-5u4e00q6 1290 14 with with IN cord-014712-5u4e00q6 1290 15 atopic atopic JJ cord-014712-5u4e00q6 1290 16 diseases disease NNS cord-014712-5u4e00q6 1290 17 , , , cord-014712-5u4e00q6 1290 18 mostly mostly RB cord-014712-5u4e00q6 1290 19 with with IN cord-014712-5u4e00q6 1290 20 respiratory respiratory JJ cord-014712-5u4e00q6 1290 21 localizations localization NNS cord-014712-5u4e00q6 1290 22 ( ( -LRB- cord-014712-5u4e00q6 1290 23 asthma asthma NN cord-014712-5u4e00q6 1290 24 and and CC cord-014712-5u4e00q6 1290 25 allergic allergic JJ cord-014712-5u4e00q6 1290 26 rhinitis rhinitis NN cord-014712-5u4e00q6 1290 27 ) ) -RRB- cord-014712-5u4e00q6 1290 28 , , , cord-014712-5u4e00q6 1290 29 16 16 CD cord-014712-5u4e00q6 1290 30 ( ( -LRB- cord-014712-5u4e00q6 1290 31 10,81 10,81 CD cord-014712-5u4e00q6 1290 32 % % NN cord-014712-5u4e00q6 1290 33 ) ) -RRB- cord-014712-5u4e00q6 1290 34 patients patient NNS cord-014712-5u4e00q6 1290 35 with with IN cord-014712-5u4e00q6 1290 36 autoimmune autoimmune JJ cord-014712-5u4e00q6 1290 37 diseases disease NNS cord-014712-5u4e00q6 1290 38 ( ( -LRB- cord-014712-5u4e00q6 1290 39 JIA JIA NNP cord-014712-5u4e00q6 1290 40 , , , cord-014712-5u4e00q6 1290 41 psoriasis psoriasis NN cord-014712-5u4e00q6 1290 42 , , , cord-014712-5u4e00q6 1290 43 celiac celiac JJ cord-014712-5u4e00q6 1290 44 disease disease NN cord-014712-5u4e00q6 1290 45 , , , cord-014712-5u4e00q6 1290 46 thyroiditis thyroiditis NN cord-014712-5u4e00q6 1290 47 etc etc FW cord-014712-5u4e00q6 1290 48 . . . cord-014712-5u4e00q6 1290 49 ) ) -RRB- cord-014712-5u4e00q6 1291 1 and and CC cord-014712-5u4e00q6 1291 2 other other JJ cord-014712-5u4e00q6 1291 3 15 15 CD cord-014712-5u4e00q6 1291 4 patients patient NNS cord-014712-5u4e00q6 1291 5 without without IN cord-014712-5u4e00q6 1291 6 clinical clinical JJ cord-014712-5u4e00q6 1291 7 symptoms symptom NNS cord-014712-5u4e00q6 1291 8 of of IN cord-014712-5u4e00q6 1291 9 autoimmunity autoimmunity NN cord-014712-5u4e00q6 1291 10 but but CC cord-014712-5u4e00q6 1291 11 constantly constantly RB cord-014712-5u4e00q6 1291 12 elevated elevate VBN cord-014712-5u4e00q6 1291 13 autoantibody autoantibody NN cord-014712-5u4e00q6 1291 14 levels level NNS cord-014712-5u4e00q6 1291 15 . . . cord-014712-5u4e00q6 1292 1 There there EX cord-014712-5u4e00q6 1292 2 were be VBD cord-014712-5u4e00q6 1292 3 7 7 CD cord-014712-5u4e00q6 1292 4 patients patient NNS cord-014712-5u4e00q6 1292 5 with with IN cord-014712-5u4e00q6 1292 6 coexistent coexistent JJ cord-014712-5u4e00q6 1292 7 atopic atopic NN cord-014712-5u4e00q6 1292 8 and and CC cord-014712-5u4e00q6 1292 9 autoimmune autoimmune JJ cord-014712-5u4e00q6 1292 10 diseases disease NNS cord-014712-5u4e00q6 1292 11 . . . cord-014712-5u4e00q6 1293 1 Regarding regard VBG cord-014712-5u4e00q6 1293 2 the the DT cord-014712-5u4e00q6 1293 3 family family NN cord-014712-5u4e00q6 1293 4 history history NN cord-014712-5u4e00q6 1293 5 , , , cord-014712-5u4e00q6 1293 6 we -PRON- PRP cord-014712-5u4e00q6 1293 7 identified identify VBD cord-014712-5u4e00q6 1293 8 8 8 CD cord-014712-5u4e00q6 1293 9 families family NNS cord-014712-5u4e00q6 1293 10 with with IN cord-014712-5u4e00q6 1293 11 multiple multiple JJ cord-014712-5u4e00q6 1293 12 cases case NNS cord-014712-5u4e00q6 1293 13 of of IN cord-014712-5u4e00q6 1293 14 PIDs pid NNS cord-014712-5u4e00q6 1293 15 : : : cord-014712-5u4e00q6 1293 16 6 6 CD cord-014712-5u4e00q6 1293 17 with with IN cord-014712-5u4e00q6 1293 18 multiple multiple JJ cord-014712-5u4e00q6 1293 19 sIgAD sIgAD NNS cord-014712-5u4e00q6 1293 20 , , , cord-014712-5u4e00q6 1293 21 1 1 CD cord-014712-5u4e00q6 1293 22 with with IN cord-014712-5u4e00q6 1293 23 sIgAD sIgAD NNS cord-014712-5u4e00q6 1293 24 and and CC cord-014712-5u4e00q6 1293 25 CVID CVID NNP cord-014712-5u4e00q6 1293 26 , , , cord-014712-5u4e00q6 1293 27 1 1 CD cord-014712-5u4e00q6 1293 28 with with IN cord-014712-5u4e00q6 1293 29 sIgAD sIgAD NNS cord-014712-5u4e00q6 1293 30 and and CC cord-014712-5u4e00q6 1293 31 HIgMS HIgMS NNP cord-014712-5u4e00q6 1293 32 ( ( -LRB- cord-014712-5u4e00q6 1293 33 hyper hyper NNP cord-014712-5u4e00q6 1293 34 IgM IgM NNP cord-014712-5u4e00q6 1293 35 syndrome syndrome NN cord-014712-5u4e00q6 1293 36 ) ) -RRB- cord-014712-5u4e00q6 1293 37 . . . cord-014712-5u4e00q6 1294 1 Conclusions conclusion NNS cord-014712-5u4e00q6 1294 2 : : : cord-014712-5u4e00q6 1295 1 The the DT cord-014712-5u4e00q6 1295 2 chronic chronic JJ cord-014712-5u4e00q6 1295 3 inflammatory inflammatory JJ cord-014712-5u4e00q6 1295 4 phenomena phenomenon NNS cord-014712-5u4e00q6 1295 5 are be VBP cord-014712-5u4e00q6 1295 6 present present JJ cord-014712-5u4e00q6 1295 7 in in IN cord-014712-5u4e00q6 1295 8 the the DT cord-014712-5u4e00q6 1295 9 majority majority NN cord-014712-5u4e00q6 1295 10 of of IN cord-014712-5u4e00q6 1295 11 the the DT cord-014712-5u4e00q6 1295 12 studied study VBN cord-014712-5u4e00q6 1295 13 sIgAD sIgAD NNP cord-014712-5u4e00q6 1295 14 patients patient NNS cord-014712-5u4e00q6 1295 15 : : : cord-014712-5u4e00q6 1295 16 symptomatic symptomatic JJ cord-014712-5u4e00q6 1295 17 atopic atopic JJ cord-014712-5u4e00q6 1295 18 diseases disease NNS cord-014712-5u4e00q6 1295 19 in in IN cord-014712-5u4e00q6 1295 20 50 50 CD cord-014712-5u4e00q6 1295 21 % % NN cord-014712-5u4e00q6 1295 22 , , , cord-014712-5u4e00q6 1295 23 symptomatic symptomatic JJ cord-014712-5u4e00q6 1295 24 autoimmune autoimmune JJ cord-014712-5u4e00q6 1295 25 diseases disease NNS cord-014712-5u4e00q6 1295 26 in in IN cord-014712-5u4e00q6 1295 27 10,8 10,8 CD cord-014712-5u4e00q6 1295 28 % % NN cord-014712-5u4e00q6 1295 29 , , , cord-014712-5u4e00q6 1295 30 that that DT cord-014712-5u4e00q6 1295 31 means mean VBZ cord-014712-5u4e00q6 1295 32 a a DT cord-014712-5u4e00q6 1295 33 cumulative cumulative JJ cord-014712-5u4e00q6 1295 34 61 61 CD cord-014712-5u4e00q6 1295 35 % % NN cord-014712-5u4e00q6 1295 36 . . . cord-014712-5u4e00q6 1296 1 There there EX cord-014712-5u4e00q6 1296 2 are be VBP cord-014712-5u4e00q6 1296 3 comorbid comorbid NN cord-014712-5u4e00q6 1296 4 associations association NNS cord-014712-5u4e00q6 1296 5 within within IN cord-014712-5u4e00q6 1296 6 the the DT cord-014712-5u4e00q6 1296 7 atopic atopic JJ cord-014712-5u4e00q6 1296 8 and and CC cord-014712-5u4e00q6 1296 9 autoimmune autoimmune JJ cord-014712-5u4e00q6 1296 10 disease disease NN cord-014712-5u4e00q6 1296 11 groups group NNS cord-014712-5u4e00q6 1296 12 and and CC cord-014712-5u4e00q6 1296 13 also also RB cord-014712-5u4e00q6 1296 14 between between IN cord-014712-5u4e00q6 1296 15 the the DT cord-014712-5u4e00q6 1296 16 two two CD cord-014712-5u4e00q6 1296 17 groups group NNS cord-014712-5u4e00q6 1296 18 . . . cord-014712-5u4e00q6 1297 1 SIgAD SIgAD NNP cord-014712-5u4e00q6 1297 2 is be VBZ cord-014712-5u4e00q6 1297 3 the the DT cord-014712-5u4e00q6 1297 4 most most RBS cord-014712-5u4e00q6 1297 5 common common JJ cord-014712-5u4e00q6 1297 6 primary primary JJ cord-014712-5u4e00q6 1297 7 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1297 8 . . . cord-014712-5u4e00q6 1298 1 It -PRON- PRP cord-014712-5u4e00q6 1298 2 's be VBZ cord-014712-5u4e00q6 1298 3 prevalence prevalence NN cord-014712-5u4e00q6 1298 4 is be VBZ cord-014712-5u4e00q6 1298 5 1/400 1/400 CD cord-014712-5u4e00q6 1298 6 - - HYPH cord-014712-5u4e00q6 1298 7 1/800 1/800 CD cord-014712-5u4e00q6 1298 8 . . . cord-014712-5u4e00q6 1299 1 Aim Aim NNP cord-014712-5u4e00q6 1299 2 was be VBD cord-014712-5u4e00q6 1299 3 to to TO cord-014712-5u4e00q6 1299 4 assess assess VB cord-014712-5u4e00q6 1299 5 the the DT cord-014712-5u4e00q6 1299 6 prevalence prevalence NN cord-014712-5u4e00q6 1299 7 of of IN cord-014712-5u4e00q6 1299 8 co co NN cord-014712-5u4e00q6 1299 9 - - NN cord-014712-5u4e00q6 1299 10 morbidity morbidity NN cord-014712-5u4e00q6 1299 11 in in IN cord-014712-5u4e00q6 1299 12 patients patient NNS cord-014712-5u4e00q6 1299 13 with with IN cord-014712-5u4e00q6 1299 14 SIgAD SIgAD NNS cord-014712-5u4e00q6 1299 15 in in IN cord-014712-5u4e00q6 1299 16 Latvian latvian JJ cord-014712-5u4e00q6 1299 17 pediatric pediatric JJ cord-014712-5u4e00q6 1299 18 population population NN cord-014712-5u4e00q6 1299 19 and and CC cord-014712-5u4e00q6 1299 20 the the DT cord-014712-5u4e00q6 1299 21 analysis analysis NN cord-014712-5u4e00q6 1299 22 of of IN cord-014712-5u4e00q6 1299 23 some some DT cord-014712-5u4e00q6 1299 24 immunological immunological JJ cord-014712-5u4e00q6 1299 25 abnormalities abnormality NNS cord-014712-5u4e00q6 1299 26 in in IN cord-014712-5u4e00q6 1299 27 these these DT cord-014712-5u4e00q6 1299 28 patients patient NNS cord-014712-5u4e00q6 1299 29 . . . cord-014712-5u4e00q6 1300 1 The the DT cord-014712-5u4e00q6 1300 2 study study NN cord-014712-5u4e00q6 1300 3 included include VBD cord-014712-5u4e00q6 1300 4 120 120 CD cord-014712-5u4e00q6 1300 5 patients patient NNS cord-014712-5u4e00q6 1300 6 4 4 CD cord-014712-5u4e00q6 1300 7 -18 -18 CD cord-014712-5u4e00q6 1300 8 years year NNS cord-014712-5u4e00q6 1300 9 old old JJ cord-014712-5u4e00q6 1300 10 . . . cord-014712-5u4e00q6 1301 1 Medical medical JJ cord-014712-5u4e00q6 1301 2 charts chart NNS cord-014712-5u4e00q6 1301 3 have have VBP cord-014712-5u4e00q6 1301 4 been be VBN cord-014712-5u4e00q6 1301 5 reviewed review VBN cord-014712-5u4e00q6 1301 6 . . . cord-014712-5u4e00q6 1302 1 Into into IN cord-014712-5u4e00q6 1302 2 account account NN cord-014712-5u4e00q6 1302 3 were be VBD cord-014712-5u4e00q6 1302 4 taken take VBN cord-014712-5u4e00q6 1302 5 the the DT cord-014712-5u4e00q6 1302 6 data datum NNS cord-014712-5u4e00q6 1302 7 , , , cord-014712-5u4e00q6 1302 8 which which WDT cord-014712-5u4e00q6 1302 9 were be VBD cord-014712-5u4e00q6 1302 10 made make VBN cord-014712-5u4e00q6 1302 11 at at IN cord-014712-5u4e00q6 1302 12 time time NN cord-014712-5u4e00q6 1302 13 of of IN cord-014712-5u4e00q6 1302 14 diagnosis diagnosis NN cord-014712-5u4e00q6 1302 15 . . . cord-014712-5u4e00q6 1303 1 Patients patient NNS cord-014712-5u4e00q6 1303 2 were be VBD cord-014712-5u4e00q6 1303 3 divided divide VBN cord-014712-5u4e00q6 1303 4 into into IN cord-014712-5u4e00q6 1303 5 4 4 CD cord-014712-5u4e00q6 1303 6 groups group NNS cord-014712-5u4e00q6 1303 7 : : : cord-014712-5u4e00q6 1303 8 1 1 CD cord-014712-5u4e00q6 1303 9 st st NNP cord-014712-5u4e00q6 1303 10 -patients -patients NNP cord-014712-5u4e00q6 1303 11 with with IN cord-014712-5u4e00q6 1303 12 allergic allergic JJ cord-014712-5u4e00q6 1303 13 disease disease NN cord-014712-5u4e00q6 1303 14 , , , cord-014712-5u4e00q6 1303 15 2 2 CD cord-014712-5u4e00q6 1303 16 nd nd NNP cord-014712-5u4e00q6 1303 17 -patients -patient VBZ cord-014712-5u4e00q6 1303 18 with with IN cord-014712-5u4e00q6 1303 19 autoimmune autoimmune JJ cord-014712-5u4e00q6 1303 20 diseases disease NNS cord-014712-5u4e00q6 1303 21 , , , cord-014712-5u4e00q6 1303 22 3 3 CD cord-014712-5u4e00q6 1303 23 rd rd NN cord-014712-5u4e00q6 1303 24 -patients -patient NNS cord-014712-5u4e00q6 1303 25 with with IN cord-014712-5u4e00q6 1303 26 infectious infectious JJ cord-014712-5u4e00q6 1303 27 diseases disease NNS cord-014712-5u4e00q6 1303 28 , , , cord-014712-5u4e00q6 1303 29 4 4 CD cord-014712-5u4e00q6 1303 30 th th XX cord-014712-5u4e00q6 1303 31 -asymptomatic -asymptomatic JJ cord-014712-5u4e00q6 1303 32 patients patient NNS cord-014712-5u4e00q6 1303 33 or or CC cord-014712-5u4e00q6 1303 34 patients patient NNS cord-014712-5u4e00q6 1303 35 with with IN cord-014712-5u4e00q6 1303 36 SIgAD sigad JJ cord-014712-5u4e00q6 1303 37 unrelated unrelated JJ cord-014712-5u4e00q6 1303 38 diseases disease NNS cord-014712-5u4e00q6 1303 39 . . . cord-014712-5u4e00q6 1304 1 Patients patient NNS cord-014712-5u4e00q6 1304 2 with with IN cord-014712-5u4e00q6 1304 3 multiple multiple JJ cord-014712-5u4e00q6 1304 4 co co NNS cord-014712-5u4e00q6 1304 5 - - NNS cord-014712-5u4e00q6 1304 6 morbidities morbidity NNS cord-014712-5u4e00q6 1304 7 of of IN cord-014712-5u4e00q6 1304 8 various various JJ cord-014712-5u4e00q6 1304 9 disease disease NN cord-014712-5u4e00q6 1304 10 groups group NNS cord-014712-5u4e00q6 1304 11 were be VBD cord-014712-5u4e00q6 1304 12 not not RB cord-014712-5u4e00q6 1304 13 placed place VBN cord-014712-5u4e00q6 1304 14 in in IN cord-014712-5u4e00q6 1304 15 any any DT cord-014712-5u4e00q6 1304 16 of of IN cord-014712-5u4e00q6 1304 17 these these DT cord-014712-5u4e00q6 1304 18 groups group NNS cord-014712-5u4e00q6 1304 19 . . . cord-014712-5u4e00q6 1305 1 Each each DT cord-014712-5u4e00q6 1305 2 patient patient NN cord-014712-5u4e00q6 1305 3 group group NN cord-014712-5u4e00q6 1305 4 was be VBD cord-014712-5u4e00q6 1305 5 divided divide VBN cord-014712-5u4e00q6 1305 6 by by IN cord-014712-5u4e00q6 1305 7 age age NN cord-014712-5u4e00q6 1305 8 : : : cord-014712-5u4e00q6 1305 9 4 4 CD cord-014712-5u4e00q6 1305 10 -6 -6 CD cord-014712-5u4e00q6 1305 11 years year NNS cord-014712-5u4e00q6 1305 12 , , , cord-014712-5u4e00q6 1305 13 7 7 CD cord-014712-5u4e00q6 1305 14 -13 -13 CD cord-014712-5u4e00q6 1305 15 years year NNS cord-014712-5u4e00q6 1305 16 14 14 CD cord-014712-5u4e00q6 1305 17 -18 -18 CD cord-014712-5u4e00q6 1305 18 years year NNS cord-014712-5u4e00q6 1305 19 . . . cord-014712-5u4e00q6 1306 1 Results.58.4 results.58.4 JJ cord-014712-5u4e00q6 1306 2 % % NN cord-014712-5u4e00q6 1306 3 were be VBD cord-014712-5u4e00q6 1306 4 boys boy NNS cord-014712-5u4e00q6 1306 5 and and CC cord-014712-5u4e00q6 1306 6 41.6 41.6 CD cord-014712-5u4e00q6 1306 7 % % NN cord-014712-5u4e00q6 1306 8 girls girl NNS cord-014712-5u4e00q6 1306 9 . . . cord-014712-5u4e00q6 1307 1 SIgAD SIgAD NNS cord-014712-5u4e00q6 1308 1 in in IN cord-014712-5u4e00q6 1308 2 53.9 53.9 CD cord-014712-5u4e00q6 1308 3 % % NN cord-014712-5u4e00q6 1308 4 of of IN cord-014712-5u4e00q6 1308 5 the the DT cord-014712-5u4e00q6 1308 6 cases case NNS cord-014712-5u4e00q6 1308 7 were be VBD cord-014712-5u4e00q6 1308 8 diagnosed diagnose VBN cord-014712-5u4e00q6 1308 9 before before IN cord-014712-5u4e00q6 1308 10 7 7 CD cord-014712-5u4e00q6 1308 11 years year NNS cord-014712-5u4e00q6 1308 12 of of IN cord-014712-5u4e00q6 1308 13 age age NN cord-014712-5u4e00q6 1308 14 ( ( -LRB- cord-014712-5u4e00q6 1308 15 inclusive inclusive JJ cord-014712-5u4e00q6 1308 16 ) ) -RRB- cord-014712-5u4e00q6 1308 17 . . . cord-014712-5u4e00q6 1309 1 85 85 CD cord-014712-5u4e00q6 1309 2 % % NN cord-014712-5u4e00q6 1309 3 of of IN cord-014712-5u4e00q6 1309 4 the the DT cord-014712-5u4e00q6 1309 5 patients patient NNS cord-014712-5u4e00q6 1309 6 had have VBD cord-014712-5u4e00q6 1309 7 co co NNS cord-014712-5u4e00q6 1309 8 - - NNS cord-014712-5u4e00q6 1309 9 morbidities morbidity NNS cord-014712-5u4e00q6 1309 10 : : : cord-014712-5u4e00q6 1309 11 allergic allergic JJ cord-014712-5u4e00q6 1309 12 ( ( -LRB- cord-014712-5u4e00q6 1309 13 30 30 CD cord-014712-5u4e00q6 1309 14 % % NN cord-014712-5u4e00q6 1309 15 ) ) -RRB- cord-014712-5u4e00q6 1309 16 , , , cord-014712-5u4e00q6 1309 17 autoimmune autoimmune JJ cord-014712-5u4e00q6 1309 18 ( ( -LRB- cord-014712-5u4e00q6 1309 19 37.5 37.5 CD cord-014712-5u4e00q6 1309 20 % % NN cord-014712-5u4e00q6 1309 21 ) ) -RRB- cord-014712-5u4e00q6 1309 22 or or CC cord-014712-5u4e00q6 1309 23 infectious infectious JJ cord-014712-5u4e00q6 1309 24 diseases disease NNS cord-014712-5u4e00q6 1309 25 ( ( -LRB- cord-014712-5u4e00q6 1309 26 17.5 17.5 CD cord-014712-5u4e00q6 1309 27 % % NN cord-014712-5u4e00q6 1309 28 ) ) -RRB- cord-014712-5u4e00q6 1309 29 . . . cord-014712-5u4e00q6 1310 1 Patients patient NNS cord-014712-5u4e00q6 1310 2 4 4 CD cord-014712-5u4e00q6 1310 3 -6 -6 CD cord-014712-5u4e00q6 1310 4 years year NNS cord-014712-5u4e00q6 1310 5 old old JJ cord-014712-5u4e00q6 1310 6 : : : cord-014712-5u4e00q6 1310 7 children child NNS cord-014712-5u4e00q6 1310 8 with with IN cord-014712-5u4e00q6 1310 9 infectious infectious JJ cord-014712-5u4e00q6 1310 10 and and CC cord-014712-5u4e00q6 1310 11 autoimmune autoimmune JJ cord-014712-5u4e00q6 1310 12 diseases disease NNS cord-014712-5u4e00q6 1310 13 have have VBP cord-014712-5u4e00q6 1310 14 1.3 1.3 CD cord-014712-5u4e00q6 1310 15 times time NNS cord-014712-5u4e00q6 1310 16 greater great JJR cord-014712-5u4e00q6 1310 17 IgG igg NN cord-014712-5u4e00q6 1310 18 than than IN cord-014712-5u4e00q6 1310 19 healthy healthy JJ cord-014712-5u4e00q6 1310 20 children child NNS cord-014712-5u4e00q6 1310 21 or or CC cord-014712-5u4e00q6 1310 22 children child NNS cord-014712-5u4e00q6 1310 23 with with IN cord-014712-5u4e00q6 1310 24 allergic allergic JJ cord-014712-5u4e00q6 1310 25 diseases disease NNS cord-014712-5u4e00q6 1310 26 ( ( -LRB- cord-014712-5u4e00q6 1310 27 p p NN cord-014712-5u4e00q6 1310 28 < < XX cord-014712-5u4e00q6 1310 29 0,05 0,05 NNP cord-014712-5u4e00q6 1310 30 ) ) -RRB- cord-014712-5u4e00q6 1310 31 ; ; : cord-014712-5u4e00q6 1310 32 children child NNS cord-014712-5u4e00q6 1310 33 with with IN cord-014712-5u4e00q6 1310 34 autoimmune autoimmune JJ cord-014712-5u4e00q6 1310 35 diseases disease NNS cord-014712-5u4e00q6 1310 36 has have VBZ cord-014712-5u4e00q6 1310 37 1.9 1.9 CD cord-014712-5u4e00q6 1310 38 times time NNS cord-014712-5u4e00q6 1310 39 more more JJR cord-014712-5u4e00q6 1310 40 CD8 cd8 NN cord-014712-5u4e00q6 1310 41 cells cell NNS cord-014712-5u4e00q6 1310 42 than than IN cord-014712-5u4e00q6 1310 43 children child NNS cord-014712-5u4e00q6 1310 44 with with IN cord-014712-5u4e00q6 1310 45 allergic allergic JJ cord-014712-5u4e00q6 1310 46 diseases disease NNS cord-014712-5u4e00q6 1310 47 ( ( -LRB- cord-014712-5u4e00q6 1310 48 p p NN cord-014712-5u4e00q6 1310 49 < < XX cord-014712-5u4e00q6 1310 50 0,05 0,05 NNP cord-014712-5u4e00q6 1310 51 ) ) -RRB- cord-014712-5u4e00q6 1310 52 . . . cord-014712-5u4e00q6 1311 1 ; ; : cord-014712-5u4e00q6 1311 2 children child NNS cord-014712-5u4e00q6 1311 3 with with IN cord-014712-5u4e00q6 1311 4 infectious infectious JJ cord-014712-5u4e00q6 1311 5 diseases disease NNS cord-014712-5u4e00q6 1311 6 have have VBP cord-014712-5u4e00q6 1311 7 2.1 2.1 CD cord-014712-5u4e00q6 1311 8 times time NNS cord-014712-5u4e00q6 1311 9 lower low JJR cord-014712-5u4e00q6 1311 10 absolute absolute JJ cord-014712-5u4e00q6 1311 11 number number NN cord-014712-5u4e00q6 1311 12 of of IN cord-014712-5u4e00q6 1311 13 CD25 cd25 JJ cord-014712-5u4e00q6 1311 14 cells cell NNS cord-014712-5u4e00q6 1311 15 than than IN cord-014712-5u4e00q6 1311 16 children child NNS cord-014712-5u4e00q6 1311 17 with with IN cord-014712-5u4e00q6 1311 18 autoimmune autoimmune JJ cord-014712-5u4e00q6 1311 19 diseases disease NNS cord-014712-5u4e00q6 1312 1 ( ( -LRB- cord-014712-5u4e00q6 1312 2 p p NN cord-014712-5u4e00q6 1312 3 < < XX cord-014712-5u4e00q6 1312 4 0,05 0,05 XX cord-014712-5u4e00q6 1312 5 ) ) -RRB- cord-014712-5u4e00q6 1313 1 ; ; : cord-014712-5u4e00q6 1313 2 Patients patient NNS cord-014712-5u4e00q6 1313 3 7 7 CD cord-014712-5u4e00q6 1313 4 -13 -13 CD cord-014712-5u4e00q6 1313 5 years year NNS cord-014712-5u4e00q6 1313 6 old old JJ cord-014712-5u4e00q6 1313 7 : : : cord-014712-5u4e00q6 1313 8 children child NNS cord-014712-5u4e00q6 1313 9 with with IN cord-014712-5u4e00q6 1313 10 infectious infectious JJ cord-014712-5u4e00q6 1313 11 diseases disease NNS cord-014712-5u4e00q6 1313 12 have have VBP cord-014712-5u4e00q6 1313 13 1.5 1.5 CD cord-014712-5u4e00q6 1313 14 times time NNS cord-014712-5u4e00q6 1313 15 more more RBR cord-014712-5u4e00q6 1313 16 absolute absolute JJ cord-014712-5u4e00q6 1313 17 number number NN cord-014712-5u4e00q6 1313 18 CD25 CD25 NNP cord-014712-5u4e00q6 1313 19 cells cell NNS cord-014712-5u4e00q6 1313 20 than than IN cord-014712-5u4e00q6 1313 21 children child NNS cord-014712-5u4e00q6 1313 22 with with IN cord-014712-5u4e00q6 1313 23 allergic allergic JJ cord-014712-5u4e00q6 1313 24 diseases disease NNS cord-014712-5u4e00q6 1313 25 ( ( -LRB- cord-014712-5u4e00q6 1313 26 p p NN cord-014712-5u4e00q6 1313 27 < < XX cord-014712-5u4e00q6 1313 28 0,05 0,05 NNP cord-014712-5u4e00q6 1313 29 ) ) -RRB- cord-014712-5u4e00q6 1313 30 . . . cord-014712-5u4e00q6 1314 1 Patients patient NNS cord-014712-5u4e00q6 1314 2 14 14 CD cord-014712-5u4e00q6 1314 3 -18 -18 SYM cord-014712-5u4e00q6 1314 4 years year NNS cord-014712-5u4e00q6 1314 5 old old JJ cord-014712-5u4e00q6 1314 6 : : : cord-014712-5u4e00q6 1314 7 children child NNS cord-014712-5u4e00q6 1314 8 with with IN cord-014712-5u4e00q6 1314 9 autoimmune autoimmune JJ cord-014712-5u4e00q6 1314 10 disease disease NN cord-014712-5u4e00q6 1314 11 have have VBP cord-014712-5u4e00q6 1314 12 1.6 1.6 CD cord-014712-5u4e00q6 1314 13 times time NNS cord-014712-5u4e00q6 1314 14 higher high JJR cord-014712-5u4e00q6 1314 15 CD4 CD4 NNP cord-014712-5u4e00q6 1314 16 / / SYM cord-014712-5u4e00q6 1314 17 CD8 CD8 NNP cord-014712-5u4e00q6 1314 18 index index NN cord-014712-5u4e00q6 1314 19 than than IN cord-014712-5u4e00q6 1314 20 children child NNS cord-014712-5u4e00q6 1314 21 with with IN cord-014712-5u4e00q6 1314 22 infectious infectious JJ cord-014712-5u4e00q6 1314 23 diseases disease NNS cord-014712-5u4e00q6 1314 24 ( ( -LRB- cord-014712-5u4e00q6 1314 25 p p NN cord-014712-5u4e00q6 1314 26 < < XX cord-014712-5u4e00q6 1314 27 0,05 0,05 XX cord-014712-5u4e00q6 1314 28 ) ) -RRB- cord-014712-5u4e00q6 1315 1 Karakina Karakina NNP cord-014712-5u4e00q6 1315 2 M. M. NNP cord-014712-5u4e00q6 1315 3 L. L. NNP cord-014712-5u4e00q6 1315 4 1,2,3 1,2,3 CD cord-014712-5u4e00q6 1315 5 , , , cord-014712-5u4e00q6 1315 6 Tuzankina Tuzankina NNP cord-014712-5u4e00q6 1315 7 I. i. NN cord-014712-5u4e00q6 1315 8 A. a. NN cord-014712-5u4e00q6 1315 9 1,2 1,2 CD cord-014712-5u4e00q6 1316 1 , , , cord-014712-5u4e00q6 1316 2 Vlasova Vlasova NNP cord-014712-5u4e00q6 1316 3 E. E. NNP cord-014712-5u4e00q6 1316 4 V. V. NNP cord-014712-5u4e00q6 1317 1 2 2 LS cord-014712-5u4e00q6 1317 2 1 1 CD cord-014712-5u4e00q6 1317 3 Introduction introduction NN cord-014712-5u4e00q6 1317 4 : : : cord-014712-5u4e00q6 1318 1 Antiepileptic antiepileptic JJ cord-014712-5u4e00q6 1318 2 drugs drug NNS cord-014712-5u4e00q6 1318 3 are be VBP cord-014712-5u4e00q6 1318 4 known know VBN cord-014712-5u4e00q6 1318 5 to to TO cord-014712-5u4e00q6 1318 6 cause cause VB cord-014712-5u4e00q6 1318 7 immunosupression immunosupression NN cord-014712-5u4e00q6 1318 8 in in IN cord-014712-5u4e00q6 1318 9 some some DT cord-014712-5u4e00q6 1318 10 cases case NNS cord-014712-5u4e00q6 1318 11 . . . cord-014712-5u4e00q6 1319 1 Levetiracetam Levetiracetam NNP cord-014712-5u4e00q6 1319 2 is be VBZ cord-014712-5u4e00q6 1319 3 an an DT cord-014712-5u4e00q6 1319 4 anticonvulsant anticonvulsant JJ cord-014712-5u4e00q6 1319 5 medication medication NN cord-014712-5u4e00q6 1319 6 used use VBN cord-014712-5u4e00q6 1319 7 to to TO cord-014712-5u4e00q6 1319 8 treat treat VB cord-014712-5u4e00q6 1319 9 epilepsy epilepsy NN cord-014712-5u4e00q6 1319 10 in in IN cord-014712-5u4e00q6 1319 11 the the DT cord-014712-5u4e00q6 1319 12 posttraumatic posttraumatic JJ cord-014712-5u4e00q6 1319 13 seizures seizure NNS cord-014712-5u4e00q6 1319 14 . . . cord-014712-5u4e00q6 1320 1 We -PRON- PRP cord-014712-5u4e00q6 1320 2 report report VBP cord-014712-5u4e00q6 1320 3 a a DT cord-014712-5u4e00q6 1320 4 rare rare JJ cord-014712-5u4e00q6 1320 5 case case NN cord-014712-5u4e00q6 1320 6 of of IN cord-014712-5u4e00q6 1320 7 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 1320 8 and and CC cord-014712-5u4e00q6 1320 9 B B NNP cord-014712-5u4e00q6 1320 10 cell cell NN cord-014712-5u4e00q6 1320 11 aplasia aplasia NNP cord-014712-5u4e00q6 1320 12 associated associate VBN cord-014712-5u4e00q6 1320 13 with with IN cord-014712-5u4e00q6 1320 14 levetiracetam levetiracetam NNP cord-014712-5u4e00q6 1320 15 treatment treatment NN cord-014712-5u4e00q6 1320 16 . . . cord-014712-5u4e00q6 1321 1 Case Case NNP cord-014712-5u4e00q6 1321 2 Report Report NNP cord-014712-5u4e00q6 1321 3 : : : cord-014712-5u4e00q6 1321 4 A a DT cord-014712-5u4e00q6 1321 5 45-year 45-year JJ cord-014712-5u4e00q6 1321 6 - - HYPH cord-014712-5u4e00q6 1321 7 old old JJ cord-014712-5u4e00q6 1321 8 female female NN cord-014712-5u4e00q6 1321 9 was be VBD cord-014712-5u4e00q6 1321 10 operated operate VBN cord-014712-5u4e00q6 1321 11 for for IN cord-014712-5u4e00q6 1321 12 pituitary pituitary JJ cord-014712-5u4e00q6 1321 13 tumor tumor NN cord-014712-5u4e00q6 1321 14 with with IN cord-014712-5u4e00q6 1321 15 transnasal transnasal NN cord-014712-5u4e00q6 1321 16 surgery surgery NN cord-014712-5u4e00q6 1321 17 and and CC cord-014712-5u4e00q6 1321 18 required require VBN cord-014712-5u4e00q6 1321 19 second second JJ cord-014712-5u4e00q6 1321 20 operation operation NN cord-014712-5u4e00q6 1321 21 for for IN cord-014712-5u4e00q6 1321 22 postoperative postoperative JJ cord-014712-5u4e00q6 1321 23 rhinorrhea rhinorrhea NN cord-014712-5u4e00q6 1321 24 . . . cord-014712-5u4e00q6 1322 1 After after IN cord-014712-5u4e00q6 1322 2 operation operation NN cord-014712-5u4e00q6 1322 3 , , , cord-014712-5u4e00q6 1322 4 menengitis menengitis NNP cord-014712-5u4e00q6 1322 5 developed develop VBD cord-014712-5u4e00q6 1322 6 and and CC cord-014712-5u4e00q6 1322 7 antibiotic antibiotic JJ cord-014712-5u4e00q6 1322 8 treatment treatment NN cord-014712-5u4e00q6 1322 9 was be VBD cord-014712-5u4e00q6 1322 10 administrated administrate VBN cord-014712-5u4e00q6 1322 11 . . . cord-014712-5u4e00q6 1323 1 However however RB cord-014712-5u4e00q6 1323 2 , , , cord-014712-5u4e00q6 1323 3 there there EX cord-014712-5u4e00q6 1323 4 was be VBD cord-014712-5u4e00q6 1323 5 a a DT cord-014712-5u4e00q6 1323 6 poor poor JJ cord-014712-5u4e00q6 1323 7 response response NN cord-014712-5u4e00q6 1323 8 to to IN cord-014712-5u4e00q6 1323 9 this this DT cord-014712-5u4e00q6 1323 10 treatment treatment NN cord-014712-5u4e00q6 1323 11 after after IN cord-014712-5u4e00q6 1323 12 one one CD cord-014712-5u4e00q6 1323 13 month month NN cord-014712-5u4e00q6 1323 14 and and CC cord-014712-5u4e00q6 1323 15 craniotomy craniotomy NN cord-014712-5u4e00q6 1323 16 was be VBD cord-014712-5u4e00q6 1323 17 performed perform VBN cord-014712-5u4e00q6 1323 18 due due IN cord-014712-5u4e00q6 1323 19 to to IN cord-014712-5u4e00q6 1323 20 the the DT cord-014712-5u4e00q6 1323 21 diagnosis diagnosis NN cord-014712-5u4e00q6 1323 22 of of IN cord-014712-5u4e00q6 1323 23 " " `` cord-014712-5u4e00q6 1323 24 shimic shimic NNP cord-014712-5u4e00q6 1323 25 menengitis menengitis NNP cord-014712-5u4e00q6 1323 26 " " '' cord-014712-5u4e00q6 1323 27 . . . cord-014712-5u4e00q6 1324 1 Her -PRON- PRP$ cord-014712-5u4e00q6 1324 2 seizures seizure NNS cord-014712-5u4e00q6 1324 3 occurred occur VBD cord-014712-5u4e00q6 1324 4 as as IN cord-014712-5u4e00q6 1324 5 a a DT cord-014712-5u4e00q6 1324 6 postoperative postoperative JJ cord-014712-5u4e00q6 1324 7 complication complication NN cord-014712-5u4e00q6 1324 8 and and CC cord-014712-5u4e00q6 1324 9 levetiracetam levetiracetam NNS cord-014712-5u4e00q6 1324 10 was be VBD cord-014712-5u4e00q6 1324 11 initiated initiate VBN cord-014712-5u4e00q6 1324 12 . . . cord-014712-5u4e00q6 1325 1 After after IN cord-014712-5u4e00q6 1325 2 the the DT cord-014712-5u4e00q6 1325 3 9-month 9-month JJ cord-014712-5u4e00q6 1325 4 follow follow NN cord-014712-5u4e00q6 1325 5 - - HYPH cord-014712-5u4e00q6 1325 6 up up NN cord-014712-5u4e00q6 1325 7 , , , cord-014712-5u4e00q6 1325 8 the the DT cord-014712-5u4e00q6 1325 9 findings finding NNS cord-014712-5u4e00q6 1325 10 of of IN cord-014712-5u4e00q6 1325 11 menengitis menengitis NNP cord-014712-5u4e00q6 1325 12 could could MD cord-014712-5u4e00q6 1325 13 not not RB cord-014712-5u4e00q6 1325 14 be be VB cord-014712-5u4e00q6 1325 15 controlled control VBN cord-014712-5u4e00q6 1325 16 with with IN cord-014712-5u4e00q6 1325 17 antibiotherapy antibiotherapy NNP cord-014712-5u4e00q6 1325 18 . . . cord-014712-5u4e00q6 1326 1 She -PRON- PRP cord-014712-5u4e00q6 1326 2 was be VBD cord-014712-5u4e00q6 1326 3 referred refer VBN cord-014712-5u4e00q6 1326 4 to to IN cord-014712-5u4e00q6 1326 5 our -PRON- PRP$ cord-014712-5u4e00q6 1326 6 immunology immunology NN cord-014712-5u4e00q6 1326 7 department department NN cord-014712-5u4e00q6 1326 8 for for IN cord-014712-5u4e00q6 1326 9 chronic chronic JJ cord-014712-5u4e00q6 1326 10 menengitis menengitis NNP cord-014712-5u4e00q6 1326 11 with with IN cord-014712-5u4e00q6 1326 12 fever fever NN cord-014712-5u4e00q6 1326 13 , , , cord-014712-5u4e00q6 1326 14 headache headache NN cord-014712-5u4e00q6 1326 15 and and CC cord-014712-5u4e00q6 1326 16 high high JJ cord-014712-5u4e00q6 1326 17 cerebrospinal cerebrospinal JJ cord-014712-5u4e00q6 1326 18 white white JJ cord-014712-5u4e00q6 1326 19 blood blood NN cord-014712-5u4e00q6 1326 20 cell cell NN cord-014712-5u4e00q6 1326 21 count count NN cord-014712-5u4e00q6 1326 22 . . . cord-014712-5u4e00q6 1327 1 Results result NNS cord-014712-5u4e00q6 1327 2 : : : cord-014712-5u4e00q6 1328 1 In in IN cord-014712-5u4e00q6 1328 2 her -PRON- PRP$ cord-014712-5u4e00q6 1328 3 clinical clinical JJ cord-014712-5u4e00q6 1328 4 evaluation evaluation NN cord-014712-5u4e00q6 1328 5 , , , cord-014712-5u4e00q6 1328 6 it -PRON- PRP cord-014712-5u4e00q6 1328 7 was be VBD cord-014712-5u4e00q6 1328 8 learned learn VBN cord-014712-5u4e00q6 1328 9 that that IN cord-014712-5u4e00q6 1328 10 she -PRON- PRP cord-014712-5u4e00q6 1328 11 had have VBD cord-014712-5u4e00q6 1328 12 previously previously RB cord-014712-5u4e00q6 1328 13 healthy healthy JJ cord-014712-5u4e00q6 1328 14 . . . cord-014712-5u4e00q6 1329 1 Laboratory laboratory NN cord-014712-5u4e00q6 1329 2 examination examination NN cord-014712-5u4e00q6 1329 3 showed show VBD cord-014712-5u4e00q6 1329 4 that that IN cord-014712-5u4e00q6 1329 5 decreased decrease VBD cord-014712-5u4e00q6 1329 6 levels level NNS cord-014712-5u4e00q6 1329 7 of of IN cord-014712-5u4e00q6 1329 8 IgG IgG NNP cord-014712-5u4e00q6 1329 9 778 778 CD cord-014712-5u4e00q6 1329 10 mg mg NNP cord-014712-5u4e00q6 1329 11 / / SYM cord-014712-5u4e00q6 1329 12 dl dl NNP cord-014712-5u4e00q6 1329 13 ( ( -LRB- cord-014712-5u4e00q6 1329 14 normal normal JJ cord-014712-5u4e00q6 1329 15 : : : cord-014712-5u4e00q6 1329 16 913 913 CD cord-014712-5u4e00q6 1329 17 - - HYPH cord-014712-5u4e00q6 1329 18 1884 1884 CD cord-014712-5u4e00q6 1329 19 ) ) -RRB- cord-014712-5u4e00q6 1329 20 and and CC cord-014712-5u4e00q6 1329 21 IgA IgA NNP cord-014712-5u4e00q6 1329 22 97 97 CD cord-014712-5u4e00q6 1330 1 mg mg NNP cord-014712-5u4e00q6 1330 2 / / SYM cord-014712-5u4e00q6 1330 3 dL dl NN cord-014712-5u4e00q6 1331 1 ( ( -LRB- cord-014712-5u4e00q6 1331 2 n n NN cord-014712-5u4e00q6 1331 3 : : : cord-014712-5u4e00q6 1331 4 139 139 CD cord-014712-5u4e00q6 1331 5 - - SYM cord-014712-5u4e00q6 1331 6 378 378 CD cord-014712-5u4e00q6 1331 7 ) ) -RRB- cord-014712-5u4e00q6 1331 8 . . . cord-014712-5u4e00q6 1332 1 Peripheral peripheral JJ cord-014712-5u4e00q6 1332 2 blood blood NN cord-014712-5u4e00q6 1332 3 flow flow NN cord-014712-5u4e00q6 1332 4 cytometric cytometric NNP cord-014712-5u4e00q6 1332 5 analysis analysis NN cord-014712-5u4e00q6 1332 6 revealed reveal VBD cord-014712-5u4e00q6 1332 7 the the DT cord-014712-5u4e00q6 1332 8 absence absence NN cord-014712-5u4e00q6 1332 9 of of IN cord-014712-5u4e00q6 1332 10 B b NN cord-014712-5u4e00q6 1332 11 cells cell NNS cord-014712-5u4e00q6 1332 12 ( ( -LRB- cord-014712-5u4e00q6 1332 13 CD19 CD19 NNP cord-014712-5u4e00q6 1332 14 + + CC cord-014712-5u4e00q6 1332 15 B b NN cord-014712-5u4e00q6 1332 16 cells cell NNS cord-014712-5u4e00q6 1332 17 ; ; : cord-014712-5u4e00q6 1332 18 < < XX cord-014712-5u4e00q6 1332 19 1 1 CD cord-014712-5u4e00q6 1332 20 % % NN cord-014712-5u4e00q6 1332 21 ) ) -RRB- cord-014712-5u4e00q6 1332 22 . . . cord-014712-5u4e00q6 1333 1 T T NNP cord-014712-5u4e00q6 1333 2 cell cell NN cord-014712-5u4e00q6 1333 3 subsets subset NNS cord-014712-5u4e00q6 1333 4 and and CC cord-014712-5u4e00q6 1333 5 natural natural JJ cord-014712-5u4e00q6 1333 6 killer killer NN cord-014712-5u4e00q6 1333 7 cell cell NN cord-014712-5u4e00q6 1333 8 numbers number NNS cord-014712-5u4e00q6 1333 9 were be VBD cord-014712-5u4e00q6 1333 10 normal normal JJ cord-014712-5u4e00q6 1333 11 . . . cord-014712-5u4e00q6 1334 1 Neutrophil Neutrophil NNP cord-014712-5u4e00q6 1334 2 function function NN cord-014712-5u4e00q6 1334 3 , , , cord-014712-5u4e00q6 1334 4 chemotaxis chemotaxis NN cord-014712-5u4e00q6 1334 5 , , , cord-014712-5u4e00q6 1334 6 phagocytosis phagocytosis NN cord-014712-5u4e00q6 1334 7 and and CC cord-014712-5u4e00q6 1334 8 oxidative oxidative JJ cord-014712-5u4e00q6 1334 9 burst burst NN cord-014712-5u4e00q6 1334 10 activity activity NN cord-014712-5u4e00q6 1334 11 were be VBD cord-014712-5u4e00q6 1334 12 found find VBN cord-014712-5u4e00q6 1334 13 to to TO cord-014712-5u4e00q6 1334 14 be be VB cord-014712-5u4e00q6 1334 15 normal normal JJ cord-014712-5u4e00q6 1334 16 . . . cord-014712-5u4e00q6 1335 1 Isohemaglutinin Isohemaglutinin NNP cord-014712-5u4e00q6 1335 2 titer titer NN cord-014712-5u4e00q6 1335 3 , , , cord-014712-5u4e00q6 1335 4 levels level NNS cord-014712-5u4e00q6 1335 5 of of IN cord-014712-5u4e00q6 1335 6 pneumococal pneumococal JJ cord-014712-5u4e00q6 1335 7 and and CC cord-014712-5u4e00q6 1335 8 tetanus tetanus JJ cord-014712-5u4e00q6 1335 9 specific specific JJ cord-014712-5u4e00q6 1335 10 IgG igg NN cord-014712-5u4e00q6 1335 11 antibodies antibody NNS cord-014712-5u4e00q6 1335 12 were be VBD cord-014712-5u4e00q6 1335 13 also also RB cord-014712-5u4e00q6 1335 14 normal normal JJ cord-014712-5u4e00q6 1335 15 . . . cord-014712-5u4e00q6 1336 1 Antiepileptic antiepileptic JJ cord-014712-5u4e00q6 1336 2 drug drug NN cord-014712-5u4e00q6 1336 3 was be VBD cord-014712-5u4e00q6 1336 4 discontinued discontinue VBN cord-014712-5u4e00q6 1336 5 after after IN cord-014712-5u4e00q6 1336 6 epileptic epileptic JJ cord-014712-5u4e00q6 1336 7 seizure seizure NN cord-014712-5u4e00q6 1336 8 was be VBD cord-014712-5u4e00q6 1336 9 controlled control VBN cord-014712-5u4e00q6 1336 10 . . . cord-014712-5u4e00q6 1337 1 B b NN cord-014712-5u4e00q6 1337 2 cells cell NNS cord-014712-5u4e00q6 1337 3 gradually gradually RB cord-014712-5u4e00q6 1337 4 increased increase VBD cord-014712-5u4e00q6 1337 5 three three CD cord-014712-5u4e00q6 1337 6 weeks week NNS cord-014712-5u4e00q6 1337 7 later later RB cord-014712-5u4e00q6 1337 8 and and CC cord-014712-5u4e00q6 1337 9 returned return VBD cord-014712-5u4e00q6 1337 10 to to IN cord-014712-5u4e00q6 1337 11 normal normal JJ cord-014712-5u4e00q6 1337 12 within within IN cord-014712-5u4e00q6 1337 13 two two CD cord-014712-5u4e00q6 1337 14 months month NNS cord-014712-5u4e00q6 1337 15 ( ( -LRB- cord-014712-5u4e00q6 1337 16 CD19 CD19 NNP cord-014712-5u4e00q6 1337 17 + + CC cord-014712-5u4e00q6 1337 18 B b NN cord-014712-5u4e00q6 1337 19 cells cell NNS cord-014712-5u4e00q6 1337 20 : : : cord-014712-5u4e00q6 1337 21 9.8 9.8 CD cord-014712-5u4e00q6 1337 22 % % NN cord-014712-5u4e00q6 1337 23 ) ) -RRB- cord-014712-5u4e00q6 1337 24 . . . cord-014712-5u4e00q6 1338 1 Conclusion conclusion NN cord-014712-5u4e00q6 1338 2 : : : cord-014712-5u4e00q6 1338 3 Patients patient NNS cord-014712-5u4e00q6 1338 4 requiring require VBG cord-014712-5u4e00q6 1338 5 levetiracetam levetiracetam NNS cord-014712-5u4e00q6 1338 6 should should MD cord-014712-5u4e00q6 1338 7 have have VB cord-014712-5u4e00q6 1338 8 serum serum NN cord-014712-5u4e00q6 1338 9 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 1338 10 measured measure VBN cord-014712-5u4e00q6 1338 11 and and CC cord-014712-5u4e00q6 1338 12 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1338 13 subsets subset NNS cord-014712-5u4e00q6 1338 14 analysis analysis NN cord-014712-5u4e00q6 1338 15 performed perform VBN cord-014712-5u4e00q6 1338 16 if if IN cord-014712-5u4e00q6 1338 17 they -PRON- PRP cord-014712-5u4e00q6 1338 18 experience experience VBP cord-014712-5u4e00q6 1338 19 recurrent recurrent JJ cord-014712-5u4e00q6 1338 20 or or CC cord-014712-5u4e00q6 1338 21 persistent persistent JJ cord-014712-5u4e00q6 1338 22 infections infection NNS cord-014712-5u4e00q6 1338 23 . . . cord-014712-5u4e00q6 1339 1 Mustafa Mustafa NNP cord-014712-5u4e00q6 1339 2 Gulec Gulec NNP cord-014712-5u4e00q6 1339 3 1 1 CD cord-014712-5u4e00q6 1339 4 ; ; : cord-014712-5u4e00q6 1339 5 Fevzi Fevzi NNP cord-014712-5u4e00q6 1339 6 Demirel Demirel NNP cord-014712-5u4e00q6 1339 7 1 1 CD cord-014712-5u4e00q6 1339 8 ; ; : cord-014712-5u4e00q6 1339 9 Ugur Ugur NNP cord-014712-5u4e00q6 1339 10 Musabak Musabak NNP cord-014712-5u4e00q6 1339 11 1 1 CD cord-014712-5u4e00q6 1339 12 ; ; : cord-014712-5u4e00q6 1339 13 Ozgur Ozgur NNP cord-014712-5u4e00q6 1339 14 Kartal Kartal NNP cord-014712-5u4e00q6 1339 15 1 1 CD cord-014712-5u4e00q6 1339 16 ; ; : cord-014712-5u4e00q6 1339 17 Sait Sait NNP cord-014712-5u4e00q6 1339 18 Yesillik Yesillik NNP cord-014712-5u4e00q6 1339 19 1 1 CD cord-014712-5u4e00q6 1339 20 ; ; : cord-014712-5u4e00q6 1339 21 Abdullah Abdullah NNP cord-014712-5u4e00q6 1339 22 Baysan Baysan NNP cord-014712-5u4e00q6 1339 23 1 1 CD cord-014712-5u4e00q6 1340 1 ; ; : cord-014712-5u4e00q6 1340 2 Ergun Ergun NNP cord-014712-5u4e00q6 1340 3 Ucar Ucar NNP cord-014712-5u4e00q6 1340 4 2 2 CD cord-014712-5u4e00q6 1340 5 ; ; : cord-014712-5u4e00q6 1340 6 Osman Osman NNP cord-014712-5u4e00q6 1340 7 Sener Sener NNP cord-014712-5u4e00q6 1340 8 1 1 CD cord-014712-5u4e00q6 1340 9 1 1 CD cord-014712-5u4e00q6 1340 10 Gulhane Gulhane NNP cord-014712-5u4e00q6 1340 11 Medical Medical NNP cord-014712-5u4e00q6 1340 12 School School NNP cord-014712-5u4e00q6 1340 13 , , , cord-014712-5u4e00q6 1340 14 Division Division NNP cord-014712-5u4e00q6 1340 15 of of IN cord-014712-5u4e00q6 1340 16 Immunology Immunology NNP cord-014712-5u4e00q6 1340 17 Allergic Allergic NNP cord-014712-5u4e00q6 1340 18 Diseases Diseases NNPS cord-014712-5u4e00q6 1340 19 , , , cord-014712-5u4e00q6 1340 20 Ankara Ankara NNP cord-014712-5u4e00q6 1340 21 , , , cord-014712-5u4e00q6 1340 22 Turkey Turkey NNP cord-014712-5u4e00q6 1340 23 . . . cord-014712-5u4e00q6 1341 1 2 2 LS cord-014712-5u4e00q6 1342 1 Gulhane Gulhane NNP cord-014712-5u4e00q6 1342 2 Medical Medical NNP cord-014712-5u4e00q6 1342 3 School School NNP cord-014712-5u4e00q6 1342 4 , , , cord-014712-5u4e00q6 1342 5 Department Department NNP cord-014712-5u4e00q6 1342 6 of of IN cord-014712-5u4e00q6 1342 7 Chest Chest NNP cord-014712-5u4e00q6 1342 8 Diseases Diseases NNPS cord-014712-5u4e00q6 1342 9 , , , cord-014712-5u4e00q6 1342 10 Ankara Ankara NNP cord-014712-5u4e00q6 1342 11 , , , cord-014712-5u4e00q6 1342 12 Turkey Turkey NNP cord-014712-5u4e00q6 1342 13 . . . cord-014712-5u4e00q6 1343 1 Introduction introduction NN cord-014712-5u4e00q6 1343 2 : : : cord-014712-5u4e00q6 1344 1 Common common JJ cord-014712-5u4e00q6 1344 2 Variable variable JJ cord-014712-5u4e00q6 1344 3 Immune immune JJ cord-014712-5u4e00q6 1344 4 Deficiency deficiency NN cord-014712-5u4e00q6 1344 5 ( ( -LRB- cord-014712-5u4e00q6 1344 6 CVID CVID NNP cord-014712-5u4e00q6 1344 7 ) ) -RRB- cord-014712-5u4e00q6 1344 8 may may MD cord-014712-5u4e00q6 1344 9 present present VB cord-014712-5u4e00q6 1344 10 with with IN cord-014712-5u4e00q6 1344 11 several several JJ cord-014712-5u4e00q6 1344 12 clinical clinical JJ cord-014712-5u4e00q6 1344 13 manifestations manifestation NNS cord-014712-5u4e00q6 1344 14 involved involve VBN cord-014712-5u4e00q6 1344 15 in in IN cord-014712-5u4e00q6 1344 16 different different JJ cord-014712-5u4e00q6 1344 17 organs organ NNS cord-014712-5u4e00q6 1344 18 and and CC cord-014712-5u4e00q6 1344 19 tissues tissue NNS cord-014712-5u4e00q6 1344 20 in in IN cord-014712-5u4e00q6 1344 21 adults adult NNS cord-014712-5u4e00q6 1344 22 . . . cord-014712-5u4e00q6 1345 1 We -PRON- PRP cord-014712-5u4e00q6 1345 2 present present VBP cord-014712-5u4e00q6 1345 3 a a DT cord-014712-5u4e00q6 1345 4 case case NN cord-014712-5u4e00q6 1345 5 with with IN cord-014712-5u4e00q6 1345 6 a a DT cord-014712-5u4e00q6 1345 7 history history NN cord-014712-5u4e00q6 1345 8 of of IN cord-014712-5u4e00q6 1345 9 chronic chronic JJ cord-014712-5u4e00q6 1345 10 cough cough NN cord-014712-5u4e00q6 1345 11 for for IN cord-014712-5u4e00q6 1345 12 more more JJR cord-014712-5u4e00q6 1345 13 than than IN cord-014712-5u4e00q6 1345 14 twenty twenty CD cord-014712-5u4e00q6 1345 15 years year NNS cord-014712-5u4e00q6 1345 16 and and CC cord-014712-5u4e00q6 1345 17 further further RB cord-014712-5u4e00q6 1345 18 diagnosed diagnose VBN cord-014712-5u4e00q6 1345 19 as as IN cord-014712-5u4e00q6 1345 20 CVID CVID NNP cord-014712-5u4e00q6 1345 21 . . . cord-014712-5u4e00q6 1346 1 Case case NN cord-014712-5u4e00q6 1346 2 : : : cord-014712-5u4e00q6 1347 1 A a DT cord-014712-5u4e00q6 1347 2 49-year 49-year JJ cord-014712-5u4e00q6 1347 3 - - HYPH cord-014712-5u4e00q6 1347 4 old old JJ cord-014712-5u4e00q6 1347 5 male male NN cord-014712-5u4e00q6 1347 6 who who WP cord-014712-5u4e00q6 1347 7 works work VBZ cord-014712-5u4e00q6 1347 8 in in IN cord-014712-5u4e00q6 1347 9 a a DT cord-014712-5u4e00q6 1347 10 chemistry chemistry NN cord-014712-5u4e00q6 1347 11 lab lab NN cord-014712-5u4e00q6 1347 12 admitted admit VBN cord-014712-5u4e00q6 1347 13 to to IN cord-014712-5u4e00q6 1347 14 our -PRON- PRP$ cord-014712-5u4e00q6 1347 15 clinic clinic NN cord-014712-5u4e00q6 1347 16 with with IN cord-014712-5u4e00q6 1347 17 a a DT cord-014712-5u4e00q6 1347 18 history history NN cord-014712-5u4e00q6 1347 19 of of IN cord-014712-5u4e00q6 1347 20 frequent frequent JJ cord-014712-5u4e00q6 1347 21 upper upper JJ cord-014712-5u4e00q6 1347 22 respiratory respiratory JJ cord-014712-5u4e00q6 1347 23 tract tract NN cord-014712-5u4e00q6 1347 24 infections infection NNS cord-014712-5u4e00q6 1347 25 for for IN cord-014712-5u4e00q6 1347 26 more more JJR cord-014712-5u4e00q6 1347 27 than than IN cord-014712-5u4e00q6 1347 28 20 20 CD cord-014712-5u4e00q6 1347 29 years year NNS cord-014712-5u4e00q6 1347 30 . . . cord-014712-5u4e00q6 1348 1 He -PRON- PRP cord-014712-5u4e00q6 1348 2 also also RB cord-014712-5u4e00q6 1348 3 had have VBD cord-014712-5u4e00q6 1348 4 intermittent intermittent JJ cord-014712-5u4e00q6 1348 5 diarrhea diarrhea NN cord-014712-5u4e00q6 1348 6 symptoms symptom NNS cord-014712-5u4e00q6 1348 7 and and CC cord-014712-5u4e00q6 1348 8 his -PRON- PRP$ cord-014712-5u4e00q6 1348 9 respiratory respiratory JJ cord-014712-5u4e00q6 1348 10 symptoms symptom NNS cord-014712-5u4e00q6 1348 11 have have VBP cord-014712-5u4e00q6 1348 12 been be VBN cord-014712-5u4e00q6 1348 13 worsened worsen VBN cord-014712-5u4e00q6 1348 14 since since IN cord-014712-5u4e00q6 1348 15 2009 2009 CD cord-014712-5u4e00q6 1348 16 . . . cord-014712-5u4e00q6 1349 1 He -PRON- PRP cord-014712-5u4e00q6 1349 2 had have VBD cord-014712-5u4e00q6 1349 3 been be VBN cord-014712-5u4e00q6 1349 4 hospitalized hospitalize VBN cord-014712-5u4e00q6 1349 5 due due IN cord-014712-5u4e00q6 1349 6 to to IN cord-014712-5u4e00q6 1349 7 pneumonia pneumonia NN cord-014712-5u4e00q6 1349 8 and and CC cord-014712-5u4e00q6 1349 9 empyema empyema JJ cord-014712-5u4e00q6 1349 10 several several JJ cord-014712-5u4e00q6 1349 11 times time NNS cord-014712-5u4e00q6 1349 12 . . . cord-014712-5u4e00q6 1350 1 He -PRON- PRP cord-014712-5u4e00q6 1350 2 had have VBD cord-014712-5u4e00q6 1350 3 undergone undergo VBN cord-014712-5u4e00q6 1350 4 left leave VBN cord-014712-5u4e00q6 1350 5 lower low JJR cord-014712-5u4e00q6 1350 6 lobectomy lobectomy NN cord-014712-5u4e00q6 1350 7 due due IN cord-014712-5u4e00q6 1350 8 to to IN cord-014712-5u4e00q6 1350 9 bronchiectasis bronchiectasis NN cord-014712-5u4e00q6 1350 10 in in IN cord-014712-5u4e00q6 1350 11 2012 2012 CD cord-014712-5u4e00q6 1350 12 . . . cord-014712-5u4e00q6 1351 1 He -PRON- PRP cord-014712-5u4e00q6 1351 2 had have VBD cord-014712-5u4e00q6 1351 3 been be VBN cord-014712-5u4e00q6 1351 4 admitted admit VBN cord-014712-5u4e00q6 1351 5 to to IN cord-014712-5u4e00q6 1351 6 intensive intensive JJ cord-014712-5u4e00q6 1351 7 care care NN cord-014712-5u4e00q6 1351 8 unit unit NN cord-014712-5u4e00q6 1351 9 due due JJ cord-014712-5u4e00q6 1351 10 to to IN cord-014712-5u4e00q6 1351 11 worsening worsen VBG cord-014712-5u4e00q6 1351 12 of of IN cord-014712-5u4e00q6 1351 13 his -PRON- PRP$ cord-014712-5u4e00q6 1351 14 medical medical JJ cord-014712-5u4e00q6 1351 15 condition condition NN cord-014712-5u4e00q6 1351 16 . . . cord-014712-5u4e00q6 1352 1 He -PRON- PRP cord-014712-5u4e00q6 1352 2 was be VBD cord-014712-5u4e00q6 1352 3 further further RB cord-014712-5u4e00q6 1352 4 diagnosed diagnose VBN cord-014712-5u4e00q6 1352 5 with with IN cord-014712-5u4e00q6 1352 6 CVID CVID NNP cord-014712-5u4e00q6 1352 7 and and CC cord-014712-5u4e00q6 1352 8 IVIG IVIG NNP cord-014712-5u4e00q6 1352 9 treatment treatment NN cord-014712-5u4e00q6 1352 10 was be VBD cord-014712-5u4e00q6 1352 11 initiated initiate VBN cord-014712-5u4e00q6 1352 12 . . . cord-014712-5u4e00q6 1353 1 He -PRON- PRP cord-014712-5u4e00q6 1353 2 is be VBZ cord-014712-5u4e00q6 1353 3 currently currently RB cord-014712-5u4e00q6 1353 4 under under IN cord-014712-5u4e00q6 1353 5 remission remission NN cord-014712-5u4e00q6 1353 6 with with IN cord-014712-5u4e00q6 1353 7 monthly monthly JJ cord-014712-5u4e00q6 1353 8 IVIG IVIG NNP cord-014712-5u4e00q6 1353 9 treatment treatment NN cord-014712-5u4e00q6 1353 10 and and CC cord-014712-5u4e00q6 1353 11 without without IN cord-014712-5u4e00q6 1353 12 any any DT cord-014712-5u4e00q6 1353 13 respiratory respiratory JJ cord-014712-5u4e00q6 1353 14 or or CC cord-014712-5u4e00q6 1353 15 gastrointestinal gastrointestinal JJ cord-014712-5u4e00q6 1353 16 symptoms symptom NNS cord-014712-5u4e00q6 1353 17 . . . cord-014712-5u4e00q6 1354 1 Discussion discussion NN cord-014712-5u4e00q6 1354 2 and and CC cord-014712-5u4e00q6 1354 3 Conclusion conclusion NN cord-014712-5u4e00q6 1355 1 : : : cord-014712-5u4e00q6 1355 2 CVID CVID NNP cord-014712-5u4e00q6 1355 3 is be VBZ cord-014712-5u4e00q6 1355 4 a a DT cord-014712-5u4e00q6 1355 5 clinical clinical JJ cord-014712-5u4e00q6 1355 6 disorder disorder NN cord-014712-5u4e00q6 1355 7 in in IN cord-014712-5u4e00q6 1355 8 which which WDT cord-014712-5u4e00q6 1355 9 the the DT cord-014712-5u4e00q6 1355 10 humoral humoral JJ cord-014712-5u4e00q6 1355 11 part part NN cord-014712-5u4e00q6 1355 12 of of IN cord-014712-5u4e00q6 1355 13 the the DT cord-014712-5u4e00q6 1355 14 immune immune JJ cord-014712-5u4e00q6 1355 15 system system NN cord-014712-5u4e00q6 1355 16 is be VBZ cord-014712-5u4e00q6 1355 17 affected affect VBN cord-014712-5u4e00q6 1355 18 . . . cord-014712-5u4e00q6 1356 1 Most most RBS cord-014712-5u4e00q6 1356 2 frequent frequent JJ cord-014712-5u4e00q6 1356 3 presenting present VBG cord-014712-5u4e00q6 1356 4 symptoms symptom NNS cord-014712-5u4e00q6 1356 5 belong belong VBP cord-014712-5u4e00q6 1356 6 to to IN cord-014712-5u4e00q6 1356 7 respiratory respiratory JJ cord-014712-5u4e00q6 1356 8 , , , cord-014712-5u4e00q6 1356 9 gastrointestinal gastrointestinal JJ cord-014712-5u4e00q6 1356 10 systems system NNS cord-014712-5u4e00q6 1356 11 and and CC cord-014712-5u4e00q6 1356 12 skin skin NN cord-014712-5u4e00q6 1356 13 . . . cord-014712-5u4e00q6 1357 1 However however RB cord-014712-5u4e00q6 1357 2 , , , cord-014712-5u4e00q6 1357 3 due due IN cord-014712-5u4e00q6 1357 4 to to IN cord-014712-5u4e00q6 1357 5 the the DT cord-014712-5u4e00q6 1357 6 organ organ NN cord-014712-5u4e00q6 1357 7 specific specific JJ cord-014712-5u4e00q6 1357 8 physical physical JJ cord-014712-5u4e00q6 1357 9 examination examination NN cord-014712-5u4e00q6 1357 10 and and CC cord-014712-5u4e00q6 1357 11 lack lack NN cord-014712-5u4e00q6 1357 12 of of IN cord-014712-5u4e00q6 1357 13 awareness awareness NN cord-014712-5u4e00q6 1357 14 , , , cord-014712-5u4e00q6 1357 15 the the DT cord-014712-5u4e00q6 1357 16 diagnosis diagnosis NN cord-014712-5u4e00q6 1357 17 is be VBZ cord-014712-5u4e00q6 1357 18 frequently frequently RB cord-014712-5u4e00q6 1357 19 overlooked overlook VBN cord-014712-5u4e00q6 1357 20 . . . cord-014712-5u4e00q6 1358 1 In in IN cord-014712-5u4e00q6 1358 2 our -PRON- PRP$ cord-014712-5u4e00q6 1358 3 case case NN cord-014712-5u4e00q6 1358 4 , , , cord-014712-5u4e00q6 1358 5 frequent frequent JJ cord-014712-5u4e00q6 1358 6 upper upper JJ cord-014712-5u4e00q6 1358 7 respiratory respiratory JJ cord-014712-5u4e00q6 1358 8 infection infection NN cord-014712-5u4e00q6 1358 9 , , , cord-014712-5u4e00q6 1358 10 loss loss NN cord-014712-5u4e00q6 1358 11 of of IN cord-014712-5u4e00q6 1358 12 weight weight NN cord-014712-5u4e00q6 1358 13 , , , cord-014712-5u4e00q6 1358 14 diarrhea diarrhea NN cord-014712-5u4e00q6 1358 15 , , , cord-014712-5u4e00q6 1358 16 bronchiectasis bronchiectasis NN cord-014712-5u4e00q6 1358 17 and and CC cord-014712-5u4e00q6 1358 18 empyema empyema NN cord-014712-5u4e00q6 1358 19 with with IN cord-014712-5u4e00q6 1358 20 unknown unknown JJ cord-014712-5u4e00q6 1358 21 etiology etiology NN cord-014712-5u4e00q6 1358 22 are be VBP cord-014712-5u4e00q6 1358 23 the the DT cord-014712-5u4e00q6 1358 24 most most RBS cord-014712-5u4e00q6 1358 25 informative informative JJ cord-014712-5u4e00q6 1358 26 clinical clinical JJ cord-014712-5u4e00q6 1358 27 signs sign NNS cord-014712-5u4e00q6 1358 28 . . . cord-014712-5u4e00q6 1359 1 Medical medical JJ cord-014712-5u4e00q6 1359 2 history history NN cord-014712-5u4e00q6 1359 3 is be VBZ cord-014712-5u4e00q6 1359 4 the the DT cord-014712-5u4e00q6 1359 5 most most RBS cord-014712-5u4e00q6 1359 6 important important JJ cord-014712-5u4e00q6 1359 7 part part NN cord-014712-5u4e00q6 1359 8 of of IN cord-014712-5u4e00q6 1359 9 patient patient JJ cord-014712-5u4e00q6 1359 10 evaluation evaluation NN cord-014712-5u4e00q6 1359 11 . . . cord-014712-5u4e00q6 1360 1 Immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1360 2 replacement replacement NN cord-014712-5u4e00q6 1360 3 therapy therapy NN cord-014712-5u4e00q6 1360 4 is be VBZ cord-014712-5u4e00q6 1360 5 a a DT cord-014712-5u4e00q6 1360 6 basic basic JJ cord-014712-5u4e00q6 1360 7 treatment treatment NN cord-014712-5u4e00q6 1360 8 in in IN cord-014712-5u4e00q6 1360 9 primary primary JJ cord-014712-5u4e00q6 1360 10 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1360 11 deficiency deficiency NN cord-014712-5u4e00q6 1360 12 disorders disorder NNS cord-014712-5u4e00q6 1360 13 . . . cord-014712-5u4e00q6 1361 1 Immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1361 2 substitution substitution NN cord-014712-5u4e00q6 1361 3 can can MD cord-014712-5u4e00q6 1361 4 be be VB cord-014712-5u4e00q6 1361 5 given give VBN cord-014712-5u4e00q6 1361 6 intravenously intravenously RB cord-014712-5u4e00q6 1361 7 ( ( -LRB- cord-014712-5u4e00q6 1361 8 IVIG IVIG NNP cord-014712-5u4e00q6 1361 9 ) ) -RRB- cord-014712-5u4e00q6 1361 10 or or CC cord-014712-5u4e00q6 1361 11 subcutaneously subcutaneously RB cord-014712-5u4e00q6 1361 12 ( ( -LRB- cord-014712-5u4e00q6 1361 13 SCIG SCIG NNP cord-014712-5u4e00q6 1361 14 ) ) -RRB- cord-014712-5u4e00q6 1361 15 for for IN cord-014712-5u4e00q6 1361 16 patients patient NNS cord-014712-5u4e00q6 1361 17 with with IN cord-014712-5u4e00q6 1361 18 antibody antibody NN cord-014712-5u4e00q6 1361 19 deficiency deficiency NN cord-014712-5u4e00q6 1361 20 . . . cord-014712-5u4e00q6 1362 1 Both both DT cord-014712-5u4e00q6 1362 2 of of IN cord-014712-5u4e00q6 1362 3 these these DT cord-014712-5u4e00q6 1362 4 treatments treatment NNS cord-014712-5u4e00q6 1362 5 are be VBP cord-014712-5u4e00q6 1362 6 effective effective JJ cord-014712-5u4e00q6 1362 7 in in IN cord-014712-5u4e00q6 1362 8 prevention prevention NN cord-014712-5u4e00q6 1362 9 and and CC cord-014712-5u4e00q6 1362 10 cure cure NN cord-014712-5u4e00q6 1362 11 of of IN cord-014712-5u4e00q6 1362 12 infections infection NNS cord-014712-5u4e00q6 1362 13 , , , cord-014712-5u4e00q6 1362 14 although although IN cord-014712-5u4e00q6 1362 15 differences difference NNS cord-014712-5u4e00q6 1362 16 in in IN cord-014712-5u4e00q6 1362 17 advers advers NNP cord-014712-5u4e00q6 1362 18 events event NNS cord-014712-5u4e00q6 1362 19 profile profile VBP cord-014712-5u4e00q6 1362 20 and and CC cord-014712-5u4e00q6 1362 21 patients patient NNS cord-014712-5u4e00q6 1362 22 ' ' POS cord-014712-5u4e00q6 1362 23 quality quality NN cord-014712-5u4e00q6 1362 24 of of IN cord-014712-5u4e00q6 1362 25 life life NN cord-014712-5u4e00q6 1362 26 can can MD cord-014712-5u4e00q6 1362 27 be be VB cord-014712-5u4e00q6 1362 28 seen see VBN cord-014712-5u4e00q6 1362 29 . . . cord-014712-5u4e00q6 1363 1 The the DT cord-014712-5u4e00q6 1363 2 authors author NNS cord-014712-5u4e00q6 1363 3 describe describe VBP cord-014712-5u4e00q6 1363 4 here here RB cord-014712-5u4e00q6 1363 5 their -PRON- PRP$ cord-014712-5u4e00q6 1363 6 experiences experience NNS cord-014712-5u4e00q6 1363 7 in in IN cord-014712-5u4e00q6 1363 8 switching switch VBG cord-014712-5u4e00q6 1363 9 patients patient NNS cord-014712-5u4e00q6 1363 10 from from IN cord-014712-5u4e00q6 1363 11 IVIG IVIG NNP cord-014712-5u4e00q6 1363 12 treatment treatment NN cord-014712-5u4e00q6 1363 13 to to IN cord-014712-5u4e00q6 1363 14 SCIG SCIG NNP cord-014712-5u4e00q6 1363 15 and and CC cord-014712-5u4e00q6 1363 16 a a DT cord-014712-5u4e00q6 1363 17 few few JJ cord-014712-5u4e00q6 1363 18 years year NNS cord-014712-5u4e00q6 1363 19 observation observation NN cord-014712-5u4e00q6 1363 20 of of IN cord-014712-5u4e00q6 1363 21 SCIG SCIG NNP cord-014712-5u4e00q6 1363 22 therapy therapy NN cord-014712-5u4e00q6 1363 23 of of IN cord-014712-5u4e00q6 1363 24 patients patient NNS cord-014712-5u4e00q6 1363 25 with with IN cord-014712-5u4e00q6 1363 26 antibody antibody NN cord-014712-5u4e00q6 1363 27 deficiencies deficiency NNS cord-014712-5u4e00q6 1363 28 . . . cord-014712-5u4e00q6 1364 1 Sirje Sirje NNP cord-014712-5u4e00q6 1364 2 Velbri Velbri NNP cord-014712-5u4e00q6 1364 3 1 1 CD cord-014712-5u4e00q6 1364 4 , , , cord-014712-5u4e00q6 1364 5 Mirja Mirja NNP cord-014712-5u4e00q6 1364 6 Varik Varik NNP cord-014712-5u4e00q6 1365 1 2 2 CD cord-014712-5u4e00q6 1365 2 1 1 CD cord-014712-5u4e00q6 1365 3 Tallinn Tallinn NNP cord-014712-5u4e00q6 1365 4 Children Children NNPS cord-014712-5u4e00q6 1365 5 's 's POS cord-014712-5u4e00q6 1365 6 Hospital Hospital NNP cord-014712-5u4e00q6 1365 7 , , , cord-014712-5u4e00q6 1365 8 Tallinn Tallinn NNP cord-014712-5u4e00q6 1365 9 , , , cord-014712-5u4e00q6 1365 10 Estonia Estonia NNP cord-014712-5u4e00q6 1365 11 . . . cord-014712-5u4e00q6 1366 1 2 2 CD cord-014712-5u4e00q6 1366 2 North north JJ cord-014712-5u4e00q6 1366 3 - - HYPH cord-014712-5u4e00q6 1366 4 Estonian Estonian NNP cord-014712-5u4e00q6 1366 5 Regional Regional NNP cord-014712-5u4e00q6 1366 6 Hospital Hospital NNP cord-014712-5u4e00q6 1366 7 , , , cord-014712-5u4e00q6 1366 8 Tallinn Tallinn NNP cord-014712-5u4e00q6 1366 9 , , , cord-014712-5u4e00q6 1366 10 Estonia Estonia NNP cord-014712-5u4e00q6 1366 11 . . . cord-014712-5u4e00q6 1367 1 J J NNP cord-014712-5u4e00q6 1367 2 Clin Clin NNP cord-014712-5u4e00q6 1367 3 Immunol Immunol NNP cord-014712-5u4e00q6 1367 4 ( ( -LRB- cord-014712-5u4e00q6 1367 5 2014 2014 CD cord-014712-5u4e00q6 1367 6 ) ) -RRB- cord-014712-5u4e00q6 1367 7 34:696 34:696 CD cord-014712-5u4e00q6 1367 8 - - SYM cord-014712-5u4e00q6 1367 9 747 747 CD cord-014712-5u4e00q6 1367 10 Antibody Antibody NNP cord-014712-5u4e00q6 1367 11 deficiencies deficiency NNS cord-014712-5u4e00q6 1367 12 are be VBP cord-014712-5u4e00q6 1367 13 the the DT cord-014712-5u4e00q6 1367 14 most most RBS cord-014712-5u4e00q6 1367 15 common common JJ cord-014712-5u4e00q6 1367 16 group group NN cord-014712-5u4e00q6 1367 17 of of IN cord-014712-5u4e00q6 1367 18 primary primary JJ cord-014712-5u4e00q6 1367 19 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 1367 20 . . . cord-014712-5u4e00q6 1368 1 The the DT cord-014712-5u4e00q6 1368 2 main main JJ cord-014712-5u4e00q6 1368 3 hallmark hallmark NN cord-014712-5u4e00q6 1368 4 of of IN cord-014712-5u4e00q6 1368 5 antibody antibody NN cord-014712-5u4e00q6 1368 6 deficiencies deficiency NNS cord-014712-5u4e00q6 1368 7 are be VBP cord-014712-5u4e00q6 1368 8 recurrent recurrent JJ cord-014712-5u4e00q6 1368 9 infections infection NNS cord-014712-5u4e00q6 1368 10 but but CC cord-014712-5u4e00q6 1368 11 the the DT cord-014712-5u4e00q6 1368 12 patients patient NNS cord-014712-5u4e00q6 1368 13 have have VBP cord-014712-5u4e00q6 1368 14 also also RB cord-014712-5u4e00q6 1368 15 higher high JJR cord-014712-5u4e00q6 1368 16 risk risk NN cord-014712-5u4e00q6 1368 17 of of IN cord-014712-5u4e00q6 1368 18 autoimmune autoimmune JJ cord-014712-5u4e00q6 1368 19 and and CC cord-014712-5u4e00q6 1368 20 allergic allergic JJ cord-014712-5u4e00q6 1368 21 diseases disease NNS cord-014712-5u4e00q6 1368 22 . . . cord-014712-5u4e00q6 1369 1 We -PRON- PRP cord-014712-5u4e00q6 1369 2 analysed analyse VBD cord-014712-5u4e00q6 1369 3 retrospectively retrospectively RB cord-014712-5u4e00q6 1369 4 the the DT cord-014712-5u4e00q6 1369 5 frequency frequency NN cord-014712-5u4e00q6 1369 6 and and CC cord-014712-5u4e00q6 1369 7 character character NN cord-014712-5u4e00q6 1369 8 of of IN cord-014712-5u4e00q6 1369 9 autoimmune autoimmune JJ cord-014712-5u4e00q6 1369 10 diseases disease NNS cord-014712-5u4e00q6 1369 11 in in IN cord-014712-5u4e00q6 1369 12 159 159 CD cord-014712-5u4e00q6 1369 13 patients patient NNS cord-014712-5u4e00q6 1369 14 ( ( -LRB- cord-014712-5u4e00q6 1369 15 98 98 CD cord-014712-5u4e00q6 1369 16 children child NNS cord-014712-5u4e00q6 1369 17 and and CC cord-014712-5u4e00q6 1369 18 61 61 CD cord-014712-5u4e00q6 1369 19 adult adult NN cord-014712-5u4e00q6 1369 20 patients patient NNS cord-014712-5u4e00q6 1369 21 ) ) -RRB- cord-014712-5u4e00q6 1369 22 with with IN cord-014712-5u4e00q6 1369 23 primary primary JJ cord-014712-5u4e00q6 1369 24 antibody antibody NN cord-014712-5u4e00q6 1369 25 deficiencies deficiency NNS cord-014712-5u4e00q6 1369 26 . . . cord-014712-5u4e00q6 1370 1 There there EX cord-014712-5u4e00q6 1370 2 were be VBD cord-014712-5u4e00q6 1370 3 ana ana JJ cord-014712-5u4e00q6 1370 4 - - HYPH cord-014712-5u4e00q6 1370 5 lysed lyse VBN cord-014712-5u4e00q6 1370 6 2 2 CD cord-014712-5u4e00q6 1370 7 patients patient NNS cord-014712-5u4e00q6 1370 8 with with IN cord-014712-5u4e00q6 1370 9 XLA XLA NNP cord-014712-5u4e00q6 1370 10 , , , cord-014712-5u4e00q6 1370 11 24 24 CD cord-014712-5u4e00q6 1370 12 patients patient NNS cord-014712-5u4e00q6 1370 13 with with IN cord-014712-5u4e00q6 1370 14 CVID CVID NNP cord-014712-5u4e00q6 1370 15 , , , cord-014712-5u4e00q6 1370 16 65 65 CD cord-014712-5u4e00q6 1370 17 patients patient NNS cord-014712-5u4e00q6 1370 18 with with IN cord-014712-5u4e00q6 1370 19 selective selective JJ cord-014712-5u4e00q6 1370 20 IgA IgA NNP cord-014712-5u4e00q6 1370 21 deficiency deficiency NN cord-014712-5u4e00q6 1370 22 , , , cord-014712-5u4e00q6 1370 23 26 26 CD cord-014712-5u4e00q6 1370 24 pa pa NNP cord-014712-5u4e00q6 1370 25 - - HYPH cord-014712-5u4e00q6 1370 26 tients tients NNP cord-014712-5u4e00q6 1370 27 with with IN cord-014712-5u4e00q6 1370 28 IgA IgA NNP cord-014712-5u4e00q6 1370 29 / / SYM cord-014712-5u4e00q6 1370 30 IgG IgG NNP cord-014712-5u4e00q6 1370 31 subclass subclass NN cord-014712-5u4e00q6 1370 32 deficiency deficiency NN cord-014712-5u4e00q6 1370 33 and and CC cord-014712-5u4e00q6 1370 34 42 42 CD cord-014712-5u4e00q6 1370 35 patients patient NNS cord-014712-5u4e00q6 1370 36 with with IN cord-014712-5u4e00q6 1370 37 isolated isolate VBN cord-014712-5u4e00q6 1370 38 IgG igg NN cord-014712-5u4e00q6 1370 39 subclass subclass NN cord-014712-5u4e00q6 1370 40 deficiency deficiency NN cord-014712-5u4e00q6 1370 41 . . . cord-014712-5u4e00q6 1371 1 Autoimmune autoimmune JJ cord-014712-5u4e00q6 1371 2 diseases disease NNS cord-014712-5u4e00q6 1371 3 were be VBD cord-014712-5u4e00q6 1371 4 found find VBN cord-014712-5u4e00q6 1371 5 in in IN cord-014712-5u4e00q6 1371 6 39 39 CD cord-014712-5u4e00q6 1371 7 patients patient NNS cord-014712-5u4e00q6 1371 8 ( ( -LRB- cord-014712-5u4e00q6 1371 9 24,5 24,5 CD cord-014712-5u4e00q6 1371 10 % % NN cord-014712-5u4e00q6 1371 11 ) ) -RRB- cord-014712-5u4e00q6 1371 12 besides besides IN cord-014712-5u4e00q6 1371 13 in in IN cord-014712-5u4e00q6 1371 14 17 17 CD cord-014712-5u4e00q6 1371 15 children child NNS cord-014712-5u4e00q6 1371 16 ( ( -LRB- cord-014712-5u4e00q6 1371 17 17 17 CD cord-014712-5u4e00q6 1371 18 % % NN cord-014712-5u4e00q6 1371 19 ) ) -RRB- cord-014712-5u4e00q6 1371 20 and and CC cord-014712-5u4e00q6 1371 21 in in IN cord-014712-5u4e00q6 1371 22 22 22 CD cord-014712-5u4e00q6 1371 23 adult adult NN cord-014712-5u4e00q6 1371 24 patients patient NNS cord-014712-5u4e00q6 1371 25 ( ( -LRB- cord-014712-5u4e00q6 1371 26 36 36 CD cord-014712-5u4e00q6 1371 27 % % NN cord-014712-5u4e00q6 1371 28 ) ) -RRB- cord-014712-5u4e00q6 1371 29 . . . cord-014712-5u4e00q6 1372 1 In in IN cord-014712-5u4e00q6 1372 2 two two CD cord-014712-5u4e00q6 1372 3 boys boy NNS cord-014712-5u4e00q6 1372 4 with with IN cord-014712-5u4e00q6 1372 5 XLA XLA NNP cord-014712-5u4e00q6 1372 6 there there EX cord-014712-5u4e00q6 1372 7 was be VBD cord-014712-5u4e00q6 1372 8 not not RB cord-014712-5u4e00q6 1372 9 found find VBN cord-014712-5u4e00q6 1372 10 autoimmune autoimmune JJ cord-014712-5u4e00q6 1372 11 diseases disease NNS cord-014712-5u4e00q6 1372 12 but but CC cord-014712-5u4e00q6 1372 13 in in IN cord-014712-5u4e00q6 1372 14 patients patient NNS cord-014712-5u4e00q6 1372 15 with with IN cord-014712-5u4e00q6 1372 16 other other JJ cord-014712-5u4e00q6 1372 17 forms form NNS cord-014712-5u4e00q6 1372 18 of of IN cord-014712-5u4e00q6 1372 19 antibody antibody NN cord-014712-5u4e00q6 1372 20 deficiencies deficiency NNS cord-014712-5u4e00q6 1372 21 in in IN cord-014712-5u4e00q6 1372 22 12 12 CD cord-014712-5u4e00q6 1372 23 - - SYM cord-014712-5u4e00q6 1372 24 57 57 CD cord-014712-5u4e00q6 1372 25 % % NN cord-014712-5u4e00q6 1372 26 of of IN cord-014712-5u4e00q6 1372 27 cases case NNS cord-014712-5u4e00q6 1372 28 . . . cord-014712-5u4e00q6 1373 1 Autoiimmune Autoiimmune NNP cord-014712-5u4e00q6 1373 2 diseases disease NNS cord-014712-5u4e00q6 1373 3 were be VBD cord-014712-5u4e00q6 1373 4 found find VBN cord-014712-5u4e00q6 1373 5 more more RBR cord-014712-5u4e00q6 1373 6 often often RB cord-014712-5u4e00q6 1373 7 in in IN cord-014712-5u4e00q6 1373 8 IgA IgA NNP cord-014712-5u4e00q6 1373 9 / / SYM cord-014712-5u4e00q6 1373 10 IgG IgG NNP cord-014712-5u4e00q6 1373 11 subclass subclass NN cord-014712-5u4e00q6 1373 12 defi defi NNP cord-014712-5u4e00q6 1373 13 - - HYPH cord-014712-5u4e00q6 1373 14 ciency ciency NN cord-014712-5u4e00q6 1373 15 ( ( -LRB- cord-014712-5u4e00q6 1373 16 57 57 CD cord-014712-5u4e00q6 1373 17 % % NN cord-014712-5u4e00q6 1373 18 ) ) -RRB- cord-014712-5u4e00q6 1373 19 than than IN cord-014712-5u4e00q6 1373 20 in in IN cord-014712-5u4e00q6 1373 21 other other JJ cord-014712-5u4e00q6 1373 22 forms form NNS cord-014712-5u4e00q6 1373 23 of of IN cord-014712-5u4e00q6 1373 24 antibody antibody NN cord-014712-5u4e00q6 1373 25 deficiencies deficiency NNS cord-014712-5u4e00q6 1373 26 ( ( -LRB- cord-014712-5u4e00q6 1373 27 0 0 CD cord-014712-5u4e00q6 1373 28 - - SYM cord-014712-5u4e00q6 1373 29 25 25 CD cord-014712-5u4e00q6 1373 30 % % NN cord-014712-5u4e00q6 1373 31 ) ) -RRB- cord-014712-5u4e00q6 1373 32 . . . cord-014712-5u4e00q6 1374 1 The the DT cord-014712-5u4e00q6 1374 2 spectrum spectrum NN cord-014712-5u4e00q6 1374 3 of of IN cord-014712-5u4e00q6 1374 4 auto auto NN cord-014712-5u4e00q6 1374 5 - - HYPH cord-014712-5u4e00q6 1374 6 immune immune JJ cord-014712-5u4e00q6 1374 7 diseases disease NNS cord-014712-5u4e00q6 1374 8 differed differ VBD cord-014712-5u4e00q6 1374 9 in in IN cord-014712-5u4e00q6 1374 10 adults adult NNS cord-014712-5u4e00q6 1374 11 and and CC cord-014712-5u4e00q6 1374 12 child child NN cord-014712-5u4e00q6 1374 13 - - HYPH cord-014712-5u4e00q6 1374 14 ren ren NN cord-014712-5u4e00q6 1374 15 and and CC cord-014712-5u4e00q6 1374 16 in in IN cord-014712-5u4e00q6 1374 17 different different JJ cord-014712-5u4e00q6 1374 18 forms form NNS cord-014712-5u4e00q6 1374 19 of of IN cord-014712-5u4e00q6 1374 20 antibody antibody NN cord-014712-5u4e00q6 1374 21 de de NNP cord-014712-5u4e00q6 1374 22 - - HYPH cord-014712-5u4e00q6 1374 23 ficiencies ficiencie NNS cord-014712-5u4e00q6 1374 24 . . . cord-014712-5u4e00q6 1375 1 Immune immune JJ cord-014712-5u4e00q6 1375 2 thrombocytopenia thrombocytopenia NN cord-014712-5u4e00q6 1375 3 was be VBD cord-014712-5u4e00q6 1375 4 found find VBN cord-014712-5u4e00q6 1375 5 in in IN cord-014712-5u4e00q6 1375 6 adult adult NN cord-014712-5u4e00q6 1375 7 patients patient NNS cord-014712-5u4e00q6 1375 8 with with IN cord-014712-5u4e00q6 1375 9 CVID CVID NNP cord-014712-5u4e00q6 1375 10 or or CC cord-014712-5u4e00q6 1375 11 IgG IgG NNP cord-014712-5u4e00q6 1375 12 subclass subclass NNP cord-014712-5u4e00q6 1375 13 deficien deficien NNP cord-014712-5u4e00q6 1375 14 - - HYPH cord-014712-5u4e00q6 1375 15 cy cy NNP cord-014712-5u4e00q6 1375 16 , , , cord-014712-5u4e00q6 1375 17 autoimmune autoimmune JJ cord-014712-5u4e00q6 1375 18 connective connective JJ cord-014712-5u4e00q6 1375 19 tissue tissue NN cord-014712-5u4e00q6 1375 20 disorders disorder NNS cord-014712-5u4e00q6 1375 21 in in IN cord-014712-5u4e00q6 1375 22 IgA IgA NNP cord-014712-5u4e00q6 1375 23 and and CC cord-014712-5u4e00q6 1375 24 IgA IgA NNP cord-014712-5u4e00q6 1375 25 / / SYM cord-014712-5u4e00q6 1375 26 IgG IgG NNP cord-014712-5u4e00q6 1375 27 subclass subclass NN cord-014712-5u4e00q6 1375 28 deficiency deficiency NN cord-014712-5u4e00q6 1375 29 . . . cord-014712-5u4e00q6 1376 1 In in IN cord-014712-5u4e00q6 1376 2 children child NNS cord-014712-5u4e00q6 1376 3 there there RB cord-014712-5u4e00q6 1376 4 was be VBD cord-014712-5u4e00q6 1376 5 found find VBN cord-014712-5u4e00q6 1376 6 mainly mainly RB cord-014712-5u4e00q6 1376 7 thyroiditis thyroiditis NN cord-014712-5u4e00q6 1376 8 , , , cord-014712-5u4e00q6 1376 9 diabetes diabetes NN cord-014712-5u4e00q6 1376 10 I -PRON- PRP cord-014712-5u4e00q6 1376 11 type type NN cord-014712-5u4e00q6 1376 12 and and CC cord-014712-5u4e00q6 1376 13 juvenile juvenile JJ cord-014712-5u4e00q6 1376 14 arthritis arthritis NN cord-014712-5u4e00q6 1376 15 . . . cord-014712-5u4e00q6 1377 1 Rostov Rostov NNP cord-014712-5u4e00q6 1377 2 State State NNP cord-014712-5u4e00q6 1377 3 Medical Medical NNP cord-014712-5u4e00q6 1377 4 University University NNP cord-014712-5u4e00q6 1377 5 . . . cord-014712-5u4e00q6 1378 1 Research Research NNP cord-014712-5u4e00q6 1378 2 Institute Institute NNP cord-014712-5u4e00q6 1378 3 of of IN cord-014712-5u4e00q6 1378 4 Clinical Clinical NNP cord-014712-5u4e00q6 1378 5 Immunology Immunology NNP cord-014712-5u4e00q6 1378 6 , , , cord-014712-5u4e00q6 1378 7 Rostov Rostov NNP cord-014712-5u4e00q6 1378 8 - - HYPH cord-014712-5u4e00q6 1378 9 on on IN cord-014712-5u4e00q6 1378 10 - - HYPH cord-014712-5u4e00q6 1378 11 Don Don NNP cord-014712-5u4e00q6 1378 12 , , , cord-014712-5u4e00q6 1378 13 Russia Russia NNP cord-014712-5u4e00q6 1378 14 . . . cord-014712-5u4e00q6 1379 1 Primary primary JJ cord-014712-5u4e00q6 1379 2 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 1379 3 ( ( -LRB- cord-014712-5u4e00q6 1379 4 PI PI NNP cord-014712-5u4e00q6 1379 5 ) ) -RRB- cord-014712-5u4e00q6 1379 6 is be VBZ cord-014712-5u4e00q6 1379 7 currently currently RB cord-014712-5u4e00q6 1379 8 one one CD cord-014712-5u4e00q6 1379 9 of of IN cord-014712-5u4e00q6 1379 10 most most RBS cord-014712-5u4e00q6 1379 11 important important JJ cord-014712-5u4e00q6 1379 12 genetically genetically RB cord-014712-5u4e00q6 1379 13 determined determine VBN cord-014712-5u4e00q6 1379 14 immunological immunological JJ cord-014712-5u4e00q6 1379 15 clinical clinical JJ cord-014712-5u4e00q6 1379 16 pathology pathology NN cord-014712-5u4e00q6 1379 17 which which WDT cord-014712-5u4e00q6 1379 18 is be VBZ cord-014712-5u4e00q6 1379 19 hard hard JJ cord-014712-5u4e00q6 1379 20 to to TO cord-014712-5u4e00q6 1379 21 manage manage VB cord-014712-5u4e00q6 1379 22 . . . cord-014712-5u4e00q6 1380 1 Among among IN cord-014712-5u4e00q6 1380 2 different different JJ cord-014712-5u4e00q6 1380 3 types type NNS cord-014712-5u4e00q6 1380 4 of of IN cord-014712-5u4e00q6 1380 5 PIs pi NNS cord-014712-5u4e00q6 1380 6 almost almost RB cord-014712-5u4e00q6 1380 7 60 60 CD cord-014712-5u4e00q6 1380 8 % % NN cord-014712-5u4e00q6 1380 9 of of IN cord-014712-5u4e00q6 1380 10 cases case NNS cord-014712-5u4e00q6 1380 11 occurs occur VBZ cord-014712-5u4e00q6 1380 12 due due IN cord-014712-5u4e00q6 1380 13 to to IN cord-014712-5u4e00q6 1380 14 a a DT cord-014712-5u4e00q6 1380 15 deficiency deficiency NN cord-014712-5u4e00q6 1380 16 in in IN cord-014712-5u4e00q6 1380 17 antibodies antibody NNS cord-014712-5u4e00q6 1380 18 production production NN cord-014712-5u4e00q6 1380 19 . . . cord-014712-5u4e00q6 1381 1 Injections injection NNS cord-014712-5u4e00q6 1381 2 of of IN cord-014712-5u4e00q6 1381 3 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1381 4 are be VBP cord-014712-5u4e00q6 1381 5 current current JJ cord-014712-5u4e00q6 1381 6 standard standard NN cord-014712-5u4e00q6 1381 7 in in IN cord-014712-5u4e00q6 1381 8 the the DT cord-014712-5u4e00q6 1381 9 management management NN cord-014712-5u4e00q6 1381 10 of of IN cord-014712-5u4e00q6 1381 11 PI PI NNP cord-014712-5u4e00q6 1381 12 . . . cord-014712-5u4e00q6 1382 1 However however RB cord-014712-5u4e00q6 1382 2 this this DT cord-014712-5u4e00q6 1382 3 treatment treatment NN cord-014712-5u4e00q6 1382 4 is be VBZ cord-014712-5u4e00q6 1382 5 expensive expensive JJ cord-014712-5u4e00q6 1382 6 , , , cord-014712-5u4e00q6 1382 7 often often RB cord-014712-5u4e00q6 1382 8 is be VBZ cord-014712-5u4e00q6 1382 9 hard hard JJ cord-014712-5u4e00q6 1382 10 for for IN cord-014712-5u4e00q6 1382 11 patients patient NNS cord-014712-5u4e00q6 1382 12 , , , cord-014712-5u4e00q6 1382 13 and and CC cord-014712-5u4e00q6 1382 14 frequently frequently RB cord-014712-5u4e00q6 1382 15 has have VBZ cord-014712-5u4e00q6 1382 16 limited limit VBN cord-014712-5u4e00q6 1382 17 effectiveness effectiveness NN cord-014712-5u4e00q6 1382 18 . . . cord-014712-5u4e00q6 1383 1 Substitution substitution NN cord-014712-5u4e00q6 1383 2 of of IN cord-014712-5u4e00q6 1383 3 immune immune JJ cord-014712-5u4e00q6 1383 4 proteins protein NNS cord-014712-5u4e00q6 1383 5 frequently frequently RB cord-014712-5u4e00q6 1383 6 is be VBZ cord-014712-5u4e00q6 1383 7 inefficient inefficient JJ cord-014712-5u4e00q6 1383 8 for for IN cord-014712-5u4e00q6 1383 9 treatment treatment NN cord-014712-5u4e00q6 1383 10 of of IN cord-014712-5u4e00q6 1383 11 severe severe JJ cord-014712-5u4e00q6 1383 12 infectious infectious JJ cord-014712-5u4e00q6 1383 13 conditions condition NNS cord-014712-5u4e00q6 1383 14 in in IN cord-014712-5u4e00q6 1383 15 PI pi NN cord-014712-5u4e00q6 1383 16 patients patient NNS cord-014712-5u4e00q6 1383 17 . . . cord-014712-5u4e00q6 1384 1 We -PRON- PRP cord-014712-5u4e00q6 1384 2 investigated investigate VBD cord-014712-5u4e00q6 1384 3 maturation maturation NN cord-014712-5u4e00q6 1384 4 , , , cord-014712-5u4e00q6 1384 5 activation activation NN cord-014712-5u4e00q6 1384 6 and and CC cord-014712-5u4e00q6 1384 7 differentiation differentiation NN cord-014712-5u4e00q6 1384 8 of of IN cord-014712-5u4e00q6 1384 9 immune immune JJ cord-014712-5u4e00q6 1384 10 T t NN cord-014712-5u4e00q6 1384 11 - - HYPH cord-014712-5u4e00q6 1384 12 cells cell NNS cord-014712-5u4e00q6 1384 13 in in IN cord-014712-5u4e00q6 1384 14 the the DT cord-014712-5u4e00q6 1384 15 dynamics dynamic NNS cord-014712-5u4e00q6 1384 16 of of IN cord-014712-5u4e00q6 1384 17 IVIG IVIG NNP cord-014712-5u4e00q6 1384 18 replacement replacement NN cord-014712-5u4e00q6 1384 19 therapy therapy NN cord-014712-5u4e00q6 1384 20 . . . cord-014712-5u4e00q6 1385 1 We -PRON- PRP cord-014712-5u4e00q6 1385 2 observed observe VBD cord-014712-5u4e00q6 1385 3 patients patient NNS cord-014712-5u4e00q6 1385 4 with with IN cord-014712-5u4e00q6 1385 5 with with IN cord-014712-5u4e00q6 1385 6 CVID CVID NNP cord-014712-5u4e00q6 1385 7 ( ( -LRB- cord-014712-5u4e00q6 1385 8 7 7 CD cord-014712-5u4e00q6 1385 9 ) ) -RRB- cord-014712-5u4e00q6 1385 10 and and CC cord-014712-5u4e00q6 1385 11 XLA XLA NNP cord-014712-5u4e00q6 1385 12 ( ( -LRB- cord-014712-5u4e00q6 1385 13 5 5 CD cord-014712-5u4e00q6 1385 14 people people NNS cord-014712-5u4e00q6 1385 15 ) ) -RRB- cord-014712-5u4e00q6 1385 16 over over IN cord-014712-5u4e00q6 1385 17 a a DT cord-014712-5u4e00q6 1385 18 year year NN cord-014712-5u4e00q6 1385 19 of of IN cord-014712-5u4e00q6 1385 20 regular regular JJ cord-014712-5u4e00q6 1385 21 replacement replacement NN cord-014712-5u4e00q6 1385 22 therapy therapy NN cord-014712-5u4e00q6 1385 23 . . . cord-014712-5u4e00q6 1386 1 We -PRON- PRP cord-014712-5u4e00q6 1386 2 have have VBP cord-014712-5u4e00q6 1386 3 found find VBN cord-014712-5u4e00q6 1386 4 that that IN cord-014712-5u4e00q6 1386 5 recovery recovery NN cord-014712-5u4e00q6 1386 6 of of IN cord-014712-5u4e00q6 1386 7 the the DT cord-014712-5u4e00q6 1386 8 humoral humoral JJ cord-014712-5u4e00q6 1386 9 component component NN cord-014712-5u4e00q6 1386 10 does do VBZ cord-014712-5u4e00q6 1386 11 not not RB cord-014712-5u4e00q6 1386 12 affect affect VB cord-014712-5u4e00q6 1386 13 the the DT cord-014712-5u4e00q6 1386 14 maturation maturation NN cord-014712-5u4e00q6 1386 15 and and CC cord-014712-5u4e00q6 1386 16 the the DT cord-014712-5u4e00q6 1386 17 differentiation differentiation NN cord-014712-5u4e00q6 1386 18 of of IN cord-014712-5u4e00q6 1386 19 T t NN cord-014712-5u4e00q6 1386 20 - - HYPH cord-014712-5u4e00q6 1386 21 cells cell NNS cord-014712-5u4e00q6 1386 22 , , , cord-014712-5u4e00q6 1386 23 but but CC cord-014712-5u4e00q6 1386 24 can can MD cord-014712-5u4e00q6 1386 25 reestablish reestablish VB cord-014712-5u4e00q6 1386 26 activation activation NN cord-014712-5u4e00q6 1386 27 and and CC cord-014712-5u4e00q6 1386 28 regulatory regulatory JJ cord-014712-5u4e00q6 1386 29 properties property NNS cord-014712-5u4e00q6 1386 30 . . . cord-014712-5u4e00q6 1387 1 These these DT cord-014712-5u4e00q6 1387 2 changes change NNS cord-014712-5u4e00q6 1387 3 are be VBP cord-014712-5u4e00q6 1387 4 more more RBR cord-014712-5u4e00q6 1387 5 evident evident JJ cord-014712-5u4e00q6 1387 6 among among IN cord-014712-5u4e00q6 1387 7 patients patient NNS cord-014712-5u4e00q6 1387 8 with with IN cord-014712-5u4e00q6 1387 9 CVID CVID NNP cord-014712-5u4e00q6 1387 10 , , , cord-014712-5u4e00q6 1387 11 which which WDT cord-014712-5u4e00q6 1387 12 immuneregulatory immuneregulatory JJ cord-014712-5u4e00q6 1387 13 and and CC cord-014712-5u4e00q6 1387 14 functional functional JJ cord-014712-5u4e00q6 1387 15 potential potential JJ cord-014712-5u4e00q6 1387 16 reestablish reestablish NN cord-014712-5u4e00q6 1387 17 faster fast RBR cord-014712-5u4e00q6 1387 18 . . . cord-014712-5u4e00q6 1388 1 Obviously obviously RB cord-014712-5u4e00q6 1388 2 , , , cord-014712-5u4e00q6 1388 3 the the DT cord-014712-5u4e00q6 1388 4 effects effect NNS cord-014712-5u4e00q6 1388 5 Tlymphocytes Tlymphocytes NNPS cord-014712-5u4e00q6 1388 6 increase increase VBP cord-014712-5u4e00q6 1388 7 the the DT cord-014712-5u4e00q6 1388 8 effectiveness effectiveness NN cord-014712-5u4e00q6 1388 9 of of IN cord-014712-5u4e00q6 1388 10 replacement replacement NN cord-014712-5u4e00q6 1388 11 therapy therapy NN cord-014712-5u4e00q6 1388 12 in in IN cord-014712-5u4e00q6 1388 13 patients patient NNS cord-014712-5u4e00q6 1388 14 with with IN cord-014712-5u4e00q6 1388 15 XLA XLA NNP cord-014712-5u4e00q6 1388 16 , , , cord-014712-5u4e00q6 1388 17 CVID CVID NNP cord-014712-5u4e00q6 1388 18 Common common JJ cord-014712-5u4e00q6 1388 19 variable variable JJ cord-014712-5u4e00q6 1388 20 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1388 21 ( ( -LRB- cord-014712-5u4e00q6 1388 22 CVID CVID NNP cord-014712-5u4e00q6 1388 23 ) ) -RRB- cord-014712-5u4e00q6 1388 24 is be VBZ cord-014712-5u4e00q6 1388 25 one one CD cord-014712-5u4e00q6 1388 26 of of IN cord-014712-5u4e00q6 1388 27 the the DT cord-014712-5u4e00q6 1388 28 most most RBS cord-014712-5u4e00q6 1388 29 frequent frequent JJ cord-014712-5u4e00q6 1388 30 symptomatic symptomatic JJ cord-014712-5u4e00q6 1388 31 primary primary JJ cord-014712-5u4e00q6 1388 32 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 1388 33 . . . cord-014712-5u4e00q6 1389 1 The the DT cord-014712-5u4e00q6 1389 2 diagnosis diagnosis NN cord-014712-5u4e00q6 1389 3 is be VBZ cord-014712-5u4e00q6 1389 4 based base VBN cord-014712-5u4e00q6 1389 5 on on IN cord-014712-5u4e00q6 1389 6 significantly significantly RB cord-014712-5u4e00q6 1389 7 decreased decrease VBN cord-014712-5u4e00q6 1389 8 levels level NNS cord-014712-5u4e00q6 1389 9 of of IN cord-014712-5u4e00q6 1389 10 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 1389 11 , , , cord-014712-5u4e00q6 1389 12 with with IN cord-014712-5u4e00q6 1389 13 poor poor JJ cord-014712-5u4e00q6 1389 14 or or CC cord-014712-5u4e00q6 1389 15 absent absent JJ cord-014712-5u4e00q6 1389 16 response response NN cord-014712-5u4e00q6 1389 17 to to IN cord-014712-5u4e00q6 1389 18 vaccines vaccine NNS cord-014712-5u4e00q6 1389 19 and and CC cord-014712-5u4e00q6 1389 20 by by IN cord-014712-5u4e00q6 1389 21 excluding exclude VBG cord-014712-5u4e00q6 1389 22 other other JJ cord-014712-5u4e00q6 1389 23 defined define VBN cord-014712-5u4e00q6 1389 24 causes cause NNS cord-014712-5u4e00q6 1389 25 of of IN cord-014712-5u4e00q6 1389 26 hypogammaglobulinaemia hypogammaglobulinaemia NN cord-014712-5u4e00q6 1389 27 . . . cord-014712-5u4e00q6 1390 1 As as IN cord-014712-5u4e00q6 1390 2 suboptimal suboptimal JJ cord-014712-5u4e00q6 1390 3 antibody antibody NN cord-014712-5u4e00q6 1390 4 production production NN cord-014712-5u4e00q6 1390 5 is be VBZ cord-014712-5u4e00q6 1390 6 mainly mainly RB cord-014712-5u4e00q6 1390 7 due due JJ cord-014712-5u4e00q6 1390 8 to to IN cord-014712-5u4e00q6 1390 9 B b NN cord-014712-5u4e00q6 1390 10 cell cell NN cord-014712-5u4e00q6 1390 11 defects defect NNS cord-014712-5u4e00q6 1390 12 , , , cord-014712-5u4e00q6 1390 13 therefore therefore RB cord-014712-5u4e00q6 1390 14 , , , cord-014712-5u4e00q6 1390 15 we -PRON- PRP cord-014712-5u4e00q6 1390 16 aimed aim VBD cord-014712-5u4e00q6 1390 17 to to TO cord-014712-5u4e00q6 1390 18 study study VB cord-014712-5u4e00q6 1390 19 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1390 20 subgroups subgroup NNS cord-014712-5u4e00q6 1390 21 of of IN cord-014712-5u4e00q6 1390 22 CVID CVID NNP cord-014712-5u4e00q6 1390 23 patients patient NNS cord-014712-5u4e00q6 1390 24 and and CC cord-014712-5u4e00q6 1390 25 to to TO cord-014712-5u4e00q6 1390 26 compare compare VB cord-014712-5u4e00q6 1390 27 the the DT cord-014712-5u4e00q6 1390 28 patterns pattern NNS cord-014712-5u4e00q6 1390 29 with with IN cord-014712-5u4e00q6 1390 30 the the DT cord-014712-5u4e00q6 1390 31 clinical clinical JJ cord-014712-5u4e00q6 1390 32 presentation presentation NN cord-014712-5u4e00q6 1390 33 in in IN cord-014712-5u4e00q6 1390 34 these these DT cord-014712-5u4e00q6 1390 35 patients patient NNS cord-014712-5u4e00q6 1390 36 . . . cord-014712-5u4e00q6 1391 1 Six six CD cord-014712-5u4e00q6 1391 2 adult adult NN cord-014712-5u4e00q6 1391 3 patients patient NNS cord-014712-5u4e00q6 1391 4 with with IN cord-014712-5u4e00q6 1391 5 CVID CVID NNP cord-014712-5u4e00q6 1391 6 diagnosis diagnosis NN cord-014712-5u4e00q6 1391 7 were be VBD cord-014712-5u4e00q6 1391 8 studied study VBN cord-014712-5u4e00q6 1391 9 . . . cord-014712-5u4e00q6 1392 1 Lymphocyte lymphocyte NN cord-014712-5u4e00q6 1392 2 subpopulations subpopulation NNS cord-014712-5u4e00q6 1392 3 were be VBD cord-014712-5u4e00q6 1392 4 determined determine VBN cord-014712-5u4e00q6 1392 5 by by IN cord-014712-5u4e00q6 1392 6 flow flow NN cord-014712-5u4e00q6 1392 7 cytometry cytometry NN cord-014712-5u4e00q6 1392 8 . . . cord-014712-5u4e00q6 1393 1 For for IN cord-014712-5u4e00q6 1393 2 B b NN cord-014712-5u4e00q6 1393 3 - - HYPH cord-014712-5u4e00q6 1393 4 cells cell NNS cord-014712-5u4e00q6 1393 5 subgroups subgroup NNS cord-014712-5u4e00q6 1393 6 CD3 CD3 NNP cord-014712-5u4e00q6 1393 7 , , , cord-014712-5u4e00q6 1393 8 CD27 CD27 NNP cord-014712-5u4e00q6 1393 9 , , , cord-014712-5u4e00q6 1393 10 IgM IgM NNP cord-014712-5u4e00q6 1393 11 and and CC cord-014712-5u4e00q6 1393 12 IgD IgD NNP cord-014712-5u4e00q6 1393 13 reagents reagents NNPS cord-014712-5u4e00q6 1393 14 w w NNP cord-014712-5u4e00q6 1393 15 e e NN cord-014712-5u4e00q6 1393 16 r r NN cord-014712-5u4e00q6 1393 17 e e NN cord-014712-5u4e00q6 1393 18 u u NN cord-014712-5u4e00q6 1393 19 s s NN cord-014712-5u4e00q6 1393 20 e e NN cord-014712-5u4e00q6 1393 21 d d NNP cord-014712-5u4e00q6 1393 22 . . . cord-014712-5u4e00q6 1394 1 A a DT cord-014712-5u4e00q6 1395 1 l l NNP cord-014712-5u4e00q6 1395 2 l l NNP cord-014712-5u4e00q6 1395 3 l l NNP cord-014712-5u4e00q6 1395 4 y y NNP cord-014712-5u4e00q6 1395 5 m m NN cord-014712-5u4e00q6 1395 6 p p NN cord-014712-5u4e00q6 1395 7 h h NN cord-014712-5u4e00q6 1396 1 o o UH cord-014712-5u4e00q6 1397 1 c c NNP cord-014712-5u4e00q6 1397 2 y y NNP cord-014712-5u4e00q6 1397 3 t t NNP cord-014712-5u4e00q6 1397 4 e e NN cord-014712-5u4e00q6 1397 5 s s NNP cord-014712-5u4e00q6 1398 1 w w NNP cord-014712-5u4e00q6 1398 2 e e NN cord-014712-5u4e00q6 1398 3 r r NN cord-014712-5u4e00q6 1398 4 e e NN cord-014712-5u4e00q6 1398 5 g g NN cord-014712-5u4e00q6 1398 6 a a DT cord-014712-5u4e00q6 1398 7 t t NN cord-014712-5u4e00q6 1398 8 e e NN cord-014712-5u4e00q6 1398 9 d d NN cord-014712-5u4e00q6 1398 10 f f NNP cord-014712-5u4e00q6 1398 11 o o NN cord-014712-5u4e00q6 1398 12 r r NN cord-014712-5u4e00q6 1398 13 f f NN cord-014712-5u4e00q6 1398 14 i i NN cord-014712-5u4e00q6 1399 1 n n NNP cord-014712-5u4e00q6 1399 2 d d NNP cord-014712-5u4e00q6 1399 3 i i NNP cord-014712-5u4e00q6 1399 4 n n NNP cord-014712-5u4e00q6 1400 1 g g NNP cord-014712-5u4e00q6 1400 2 CD19 CD19 NNP cord-014712-5u4e00q6 1401 1 + + CC cord-014712-5u4e00q6 1402 1 CD27 CD27 NNP cord-014712-5u4e00q6 1402 2 + + CC cord-014712-5u4e00q6 1403 1 memory memory NN cord-014712-5u4e00q6 1403 2 B B NNP cord-014712-5u4e00q6 1403 3 cells cell NNS cord-014712-5u4e00q6 1403 4 and and CC cord-014712-5u4e00q6 1403 5 from from IN cord-014712-5u4e00q6 1403 6 this this DT cord-014712-5u4e00q6 1403 7 population population NN cord-014712-5u4e00q6 1403 8 switched switch VBD cord-014712-5u4e00q6 1403 9 ( ( -LRB- cord-014712-5u4e00q6 1403 10 CD19 CD19 NNP cord-014712-5u4e00q6 1403 11 + + CC cord-014712-5u4e00q6 1403 12 CD27 CD27 NNP cord-014712-5u4e00q6 1403 13 + + CC cord-014712-5u4e00q6 1403 14 IgD IgD NNP cord-014712-5u4e00q6 1403 15 -IgM -IgM : cord-014712-5u4e00q6 1403 16 - - : cord-014712-5u4e00q6 1403 17 ) ) -RRB- cord-014712-5u4e00q6 1403 18 and and CC cord-014712-5u4e00q6 1403 19 non non JJ cord-014712-5u4e00q6 1403 20 - - JJ cord-014712-5u4e00q6 1403 21 switched switched JJ cord-014712-5u4e00q6 1403 22 ( ( -LRB- cord-014712-5u4e00q6 1403 23 CD19 CD19 NNP cord-014712-5u4e00q6 1403 24 + + CC cord-014712-5u4e00q6 1403 25 CD27 CD27 NNP cord-014712-5u4e00q6 1403 26 + + CC cord-014712-5u4e00q6 1403 27 IgD IgD NNP cord-014712-5u4e00q6 1403 28 + + CC cord-014712-5u4e00q6 1403 29 IgM IgM NNP cord-014712-5u4e00q6 1403 30 + + SYM cord-014712-5u4e00q6 1403 31 ) ) -RRB- cord-014712-5u4e00q6 1403 32 memory memory NN cord-014712-5u4e00q6 1403 33 B b NN cord-014712-5u4e00q6 1403 34 cells cell NNS cord-014712-5u4e00q6 1403 35 were be VBD cord-014712-5u4e00q6 1403 36 counted count VBN cord-014712-5u4e00q6 1403 37 . . . cord-014712-5u4e00q6 1404 1 All all DT cord-014712-5u4e00q6 1404 2 patients patient NNS cord-014712-5u4e00q6 1404 3 had have VBD cord-014712-5u4e00q6 1404 4 normal normal JJ cord-014712-5u4e00q6 1404 5 levels level NNS cord-014712-5u4e00q6 1404 6 of of IN cord-014712-5u4e00q6 1404 7 total total JJ cord-014712-5u4e00q6 1404 8 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1404 9 count count NN cord-014712-5u4e00q6 1404 10 and and CC cord-014712-5u4e00q6 1404 11 absolute absolute JJ cord-014712-5u4e00q6 1404 12 counts count NNS cord-014712-5u4e00q6 1404 13 of of IN cord-014712-5u4e00q6 1404 14 CD4 CD4 NNP cord-014712-5u4e00q6 1404 15 + + CC cord-014712-5u4e00q6 1404 16 , , , cord-014712-5u4e00q6 1404 17 CD8 CD8 NNP cord-014712-5u4e00q6 1404 18 + + CC cord-014712-5u4e00q6 1404 19 and and CC cord-014712-5u4e00q6 1404 20 CD16 CD16 NNP cord-014712-5u4e00q6 1405 1 + + CC cord-014712-5u4e00q6 1406 1 /CD56 /CD56 NNP cord-014712-5u4e00q6 1407 1 + + CC cord-014712-5u4e00q6 1407 2 cells cell NNS cord-014712-5u4e00q6 1407 3 were be VBD cord-014712-5u4e00q6 1407 4 also also RB cord-014712-5u4e00q6 1407 5 normal normal JJ cord-014712-5u4e00q6 1407 6 in in IN cord-014712-5u4e00q6 1407 7 all all DT cord-014712-5u4e00q6 1407 8 patients patient NNS cord-014712-5u4e00q6 1407 9 . . . cord-014712-5u4e00q6 1408 1 Only only RB cord-014712-5u4e00q6 1408 2 one one CD cord-014712-5u4e00q6 1408 3 patient patient NN cord-014712-5u4e00q6 1408 4 showed show VBD cord-014712-5u4e00q6 1408 5 low low JJ cord-014712-5u4e00q6 1408 6 levels level NNS cord-014712-5u4e00q6 1408 7 of of IN cord-014712-5u4e00q6 1408 8 CD19 CD19 NNP cord-014712-5u4e00q6 1408 9 + + CC cord-014712-5u4e00q6 1408 10 cells cell NNS cord-014712-5u4e00q6 1408 11 levels level NNS cord-014712-5u4e00q6 1408 12 . . . cord-014712-5u4e00q6 1409 1 According accord VBG cord-014712-5u4e00q6 1409 2 to to IN cord-014712-5u4e00q6 1409 3 Paris Paris NNP cord-014712-5u4e00q6 1409 4 classification classification NN cord-014712-5u4e00q6 1409 5 scheme scheme NN cord-014712-5u4e00q6 1409 6 the the DT cord-014712-5u4e00q6 1409 7 patients patient NNS cord-014712-5u4e00q6 1409 8 could could MD cord-014712-5u4e00q6 1409 9 divided divide VBN cord-014712-5u4e00q6 1409 10 into into IN cord-014712-5u4e00q6 1409 11 two two CD cord-014712-5u4e00q6 1409 12 subgroups subgroup NNS cord-014712-5u4e00q6 1409 13 : : : cord-014712-5u4e00q6 1409 14 MB0 MB0 NNP cord-014712-5u4e00q6 1409 15 and and CC cord-014712-5u4e00q6 1409 16 MB1 MB1 NNP cord-014712-5u4e00q6 1409 17 . . . cord-014712-5u4e00q6 1410 1 Although although IN cord-014712-5u4e00q6 1410 2 almost almost RB cord-014712-5u4e00q6 1410 3 all all PDT cord-014712-5u4e00q6 1410 4 our -PRON- PRP$ cord-014712-5u4e00q6 1410 5 CVID CVID NNP cord-014712-5u4e00q6 1410 6 patients patient NNS cord-014712-5u4e00q6 1410 7 had have VBD cord-014712-5u4e00q6 1410 8 normal normal JJ cord-014712-5u4e00q6 1410 9 number number NN cord-014712-5u4e00q6 1410 10 of of IN cord-014712-5u4e00q6 1410 11 total total JJ cord-014712-5u4e00q6 1410 12 B b NN cord-014712-5u4e00q6 1410 13 cells cell NNS cord-014712-5u4e00q6 1410 14 , , , cord-014712-5u4e00q6 1410 15 most most JJS cord-014712-5u4e00q6 1410 16 of of IN cord-014712-5u4e00q6 1410 17 them -PRON- PRP cord-014712-5u4e00q6 1410 18 showed show VBD cord-014712-5u4e00q6 1410 19 reduced reduced JJ cord-014712-5u4e00q6 1410 20 number number NN cord-014712-5u4e00q6 1410 21 of of IN cord-014712-5u4e00q6 1410 22 memory memory NN cord-014712-5u4e00q6 1410 23 B b NN cord-014712-5u4e00q6 1410 24 cells cell NNS cord-014712-5u4e00q6 1410 25 and/or and/or CC cord-014712-5u4e00q6 1410 26 switched switch VBD cord-014712-5u4e00q6 1410 27 memory memory NN cord-014712-5u4e00q6 1410 28 B b NN cord-014712-5u4e00q6 1410 29 cells cell NNS cord-014712-5u4e00q6 1410 30 . . . cord-014712-5u4e00q6 1411 1 All all DT cord-014712-5u4e00q6 1411 2 of of IN cord-014712-5u4e00q6 1411 3 our -PRON- PRP$ cord-014712-5u4e00q6 1411 4 patients patient NNS cord-014712-5u4e00q6 1411 5 had have VBD cord-014712-5u4e00q6 1411 6 very very RB cord-014712-5u4e00q6 1411 7 low low JJ cord-014712-5u4e00q6 1411 8 or or CC cord-014712-5u4e00q6 1411 9 absent absent JJ cord-014712-5u4e00q6 1411 10 level level NN cord-014712-5u4e00q6 1411 11 of of IN cord-014712-5u4e00q6 1411 12 class class NN cord-014712-5u4e00q6 1411 13 - - HYPH cord-014712-5u4e00q6 1411 14 switched switch VBN cord-014712-5u4e00q6 1411 15 memory memory NN cord-014712-5u4e00q6 1411 16 B b NN cord-014712-5u4e00q6 1411 17 cells cell NNS cord-014712-5u4e00q6 1411 18 , , , cord-014712-5u4e00q6 1411 19 therefore therefore RB cord-014712-5u4e00q6 1411 20 can can MD cord-014712-5u4e00q6 1411 21 be be VB cord-014712-5u4e00q6 1411 22 possible possible JJ cord-014712-5u4e00q6 1411 23 associated associate VBN cord-014712-5u4e00q6 1411 24 with with IN cord-014712-5u4e00q6 1411 25 a a DT cord-014712-5u4e00q6 1411 26 higher high JJR cord-014712-5u4e00q6 1411 27 risk risk NN cord-014712-5u4e00q6 1411 28 of of IN cord-014712-5u4e00q6 1411 29 granulomatous granulomatous JJ cord-014712-5u4e00q6 1411 30 disease disease NN cord-014712-5u4e00q6 1411 31 and and CC cord-014712-5u4e00q6 1411 32 splenomegaly splenomegaly NN cord-014712-5u4e00q6 1411 33 . . . cord-014712-5u4e00q6 1412 1 Detailed detailed JJ cord-014712-5u4e00q6 1412 2 investigation investigation NN cord-014712-5u4e00q6 1412 3 of of IN cord-014712-5u4e00q6 1412 4 B b NN cord-014712-5u4e00q6 1412 5 - - HYPH cord-014712-5u4e00q6 1412 6 cell cell NN cord-014712-5u4e00q6 1412 7 phenotypes phenotype NNS cord-014712-5u4e00q6 1412 8 can can MD cord-014712-5u4e00q6 1412 9 better well RBR cord-014712-5u4e00q6 1412 10 characterise characterise VB cord-014712-5u4e00q6 1412 11 CVID CVID NNP cord-014712-5u4e00q6 1412 12 patients patient NNS cord-014712-5u4e00q6 1412 13 and and CC cord-014712-5u4e00q6 1412 14 can can MD cord-014712-5u4e00q6 1412 15 provide provide VB cord-014712-5u4e00q6 1412 16 more more JJR cord-014712-5u4e00q6 1412 17 information information NN cord-014712-5u4e00q6 1412 18 about about IN cord-014712-5u4e00q6 1412 19 possible possible JJ cord-014712-5u4e00q6 1412 20 clinical clinical JJ cord-014712-5u4e00q6 1412 21 outcome outcome NN cord-014712-5u4e00q6 1412 22 . . . cord-014712-5u4e00q6 1413 1 Background background NN cord-014712-5u4e00q6 1413 2 : : : cord-014712-5u4e00q6 1414 1 Common common JJ cord-014712-5u4e00q6 1414 2 variable variable JJ cord-014712-5u4e00q6 1414 3 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1414 4 ( ( -LRB- cord-014712-5u4e00q6 1414 5 CVID CVID NNP cord-014712-5u4e00q6 1414 6 ) ) -RRB- cord-014712-5u4e00q6 1414 7 is be VBZ cord-014712-5u4e00q6 1414 8 one one CD cord-014712-5u4e00q6 1414 9 of of IN cord-014712-5u4e00q6 1414 10 the the DT cord-014712-5u4e00q6 1414 11 most most RBS cord-014712-5u4e00q6 1414 12 frequent frequent JJ cord-014712-5u4e00q6 1414 13 symptomatic symptomatic JJ cord-014712-5u4e00q6 1414 14 primary primary JJ cord-014712-5u4e00q6 1414 15 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 1414 16 , , , cord-014712-5u4e00q6 1414 17 often often RB cord-014712-5u4e00q6 1414 18 related relate VBN cord-014712-5u4e00q6 1414 19 to to IN cord-014712-5u4e00q6 1414 20 spectrum spectrum NN cord-014712-5u4e00q6 1414 21 of of IN cord-014712-5u4e00q6 1414 22 infectious infectious JJ cord-014712-5u4e00q6 1414 23 and and CC cord-014712-5u4e00q6 1414 24 autoimmune autoimmune JJ cord-014712-5u4e00q6 1414 25 diseases disease NNS cord-014712-5u4e00q6 1414 26 . . . cord-014712-5u4e00q6 1415 1 In in IN cord-014712-5u4e00q6 1415 2 CVID CVID NNP cord-014712-5u4e00q6 1415 3 patients patient NNS cord-014712-5u4e00q6 1415 4 wide wide JJ cord-014712-5u4e00q6 1415 5 spectrum spectrum NN cord-014712-5u4e00q6 1415 6 of of IN cord-014712-5u4e00q6 1415 7 gastrointestinal gastrointestinal JJ cord-014712-5u4e00q6 1415 8 disorders disorder NNS cord-014712-5u4e00q6 1415 9 , , , cord-014712-5u4e00q6 1415 10 including include VBG cord-014712-5u4e00q6 1415 11 infections infection NNS cord-014712-5u4e00q6 1415 12 , , , cord-014712-5u4e00q6 1415 13 are be VBP cord-014712-5u4e00q6 1415 14 frequently frequently RB cord-014712-5u4e00q6 1415 15 seen see VBN cord-014712-5u4e00q6 1415 16 . . . cord-014712-5u4e00q6 1416 1 Inflammatory inflammatory JJ cord-014712-5u4e00q6 1416 2 bowel bowel NN cord-014712-5u4e00q6 1416 3 disease disease NN cord-014712-5u4e00q6 1416 4 , , , cord-014712-5u4e00q6 1416 5 Helicobacter Helicobacter NNP cord-014712-5u4e00q6 1416 6 pylori pylori NN cord-014712-5u4e00q6 1416 7 infection infection NN cord-014712-5u4e00q6 1416 8 , , , cord-014712-5u4e00q6 1416 9 Giardia Giardia NNP cord-014712-5u4e00q6 1416 10 lamblia lamblia NN cord-014712-5u4e00q6 1416 11 infection infection NN cord-014712-5u4e00q6 1416 12 , , , cord-014712-5u4e00q6 1416 13 Campylobacter Campylobacter NNP cord-014712-5u4e00q6 1416 14 or or CC cord-014712-5u4e00q6 1416 15 Salmonella Salmonella NNP cord-014712-5u4e00q6 1416 16 infection infection NN cord-014712-5u4e00q6 1416 17 have have VBP cord-014712-5u4e00q6 1416 18 been be VBN cord-014712-5u4e00q6 1416 19 reported report VBN cord-014712-5u4e00q6 1416 20 . . . cord-014712-5u4e00q6 1417 1 However however RB cord-014712-5u4e00q6 1417 2 , , , cord-014712-5u4e00q6 1417 3 abnormal abnormal JJ cord-014712-5u4e00q6 1417 4 liver liver NN cord-014712-5u4e00q6 1417 5 function function NN cord-014712-5u4e00q6 1417 6 test test NN cord-014712-5u4e00q6 1417 7 and and CC cord-014712-5u4e00q6 1417 8 liver liver NN cord-014712-5u4e00q6 1417 9 disease disease NN cord-014712-5u4e00q6 1417 10 are be VBP cord-014712-5u4e00q6 1417 11 found find VBN cord-014712-5u4e00q6 1417 12 in in IN cord-014712-5u4e00q6 1417 13 approximately approximately RB cord-014712-5u4e00q6 1417 14 10 10 CD cord-014712-5u4e00q6 1417 15 % % NN cord-014712-5u4e00q6 1417 16 of of IN cord-014712-5u4e00q6 1417 17 CVID CVID NNP cord-014712-5u4e00q6 1417 18 patients patient NNS cord-014712-5u4e00q6 1417 19 . . . cord-014712-5u4e00q6 1418 1 Case case NN cord-014712-5u4e00q6 1418 2 history history NN cord-014712-5u4e00q6 1418 3 : : : cord-014712-5u4e00q6 1419 1 A a DT cord-014712-5u4e00q6 1419 2 47-year 47-year JJ cord-014712-5u4e00q6 1419 3 old old JJ cord-014712-5u4e00q6 1419 4 female female JJ cord-014712-5u4e00q6 1419 5 patient patient NN cord-014712-5u4e00q6 1419 6 was be VBD cord-014712-5u4e00q6 1419 7 admitted admit VBN cord-014712-5u4e00q6 1419 8 to to IN cord-014712-5u4e00q6 1419 9 infectious infectious JJ cord-014712-5u4e00q6 1419 10 disease disease NN cord-014712-5u4e00q6 1419 11 department department NN cord-014712-5u4e00q6 1419 12 due due IN cord-014712-5u4e00q6 1419 13 to to IN cord-014712-5u4e00q6 1419 14 recurrent recurrent JJ cord-014712-5u4e00q6 1419 15 pneumonia pneumonia NN cord-014712-5u4e00q6 1419 16 and and CC cord-014712-5u4e00q6 1419 17 purulent purulent JJ cord-014712-5u4e00q6 1419 18 rhinosinusitis rhinosinusitis NN cord-014712-5u4e00q6 1419 19 . . . cord-014712-5u4e00q6 1420 1 Blood blood NN cord-014712-5u4e00q6 1420 2 analysis analysis NN cord-014712-5u4e00q6 1420 3 confirmed confirm VBD cord-014712-5u4e00q6 1420 4 panhypogammaglobulinaemia panhypogammaglobulinaemia NN cord-014712-5u4e00q6 1420 5 with with IN cord-014712-5u4e00q6 1420 6 impaired impaired JJ cord-014712-5u4e00q6 1420 7 responses response NNS cord-014712-5u4e00q6 1420 8 to to IN cord-014712-5u4e00q6 1420 9 vaccinations vaccination NNS cord-014712-5u4e00q6 1420 10 , , , cord-014712-5u4e00q6 1420 11 elevated elevated JJ cord-014712-5u4e00q6 1420 12 liver liver NN cord-014712-5u4e00q6 1420 13 function function NN cord-014712-5u4e00q6 1420 14 tests test NNS cord-014712-5u4e00q6 1420 15 and and CC cord-014712-5u4e00q6 1420 16 anti anti JJ cord-014712-5u4e00q6 1420 17 - - JJ cord-014712-5u4e00q6 1420 18 HCV hcv JJ cord-014712-5u4e00q6 1420 19 positivity positivity NN cord-014712-5u4e00q6 1420 20 , , , cord-014712-5u4e00q6 1420 21 interpreted interpret VBD cord-014712-5u4e00q6 1420 22 as as IN cord-014712-5u4e00q6 1420 23 old old JJ cord-014712-5u4e00q6 1420 24 and and CC cord-014712-5u4e00q6 1420 25 passed pass VBD cord-014712-5u4e00q6 1420 26 infection infection NN cord-014712-5u4e00q6 1420 27 . . . cord-014712-5u4e00q6 1421 1 Due due IN cord-014712-5u4e00q6 1421 2 to to IN cord-014712-5u4e00q6 1421 3 CVID CVID NNP cord-014712-5u4e00q6 1421 4 intravenous intravenous JJ cord-014712-5u4e00q6 1421 5 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1421 6 substitution substitution NN cord-014712-5u4e00q6 1421 7 was be VBD cord-014712-5u4e00q6 1421 8 started start VBN cord-014712-5u4e00q6 1421 9 . . . cord-014712-5u4e00q6 1422 1 However however RB cord-014712-5u4e00q6 1422 2 , , , cord-014712-5u4e00q6 1422 3 liver liver NN cord-014712-5u4e00q6 1422 4 function function NN cord-014712-5u4e00q6 1422 5 tests test NNS cord-014712-5u4e00q6 1422 6 remained remain VBD cord-014712-5u4e00q6 1422 7 elevated elevated JJ cord-014712-5u4e00q6 1422 8 and and CC cord-014712-5u4e00q6 1422 9 with with IN cord-014712-5u4e00q6 1422 10 HCV HCV NNP cord-014712-5u4e00q6 1422 11 - - HYPH cord-014712-5u4e00q6 1422 12 RNA RNA NNP cord-014712-5u4e00q6 1422 13 analysis analysis NN cord-014712-5u4e00q6 1422 14 high high JJ cord-014712-5u4e00q6 1422 15 hepatitis hepatitis NN cord-014712-5u4e00q6 1422 16 C C NNP cord-014712-5u4e00q6 1422 17 viral viral JJ cord-014712-5u4e00q6 1422 18 load load NN cord-014712-5u4e00q6 1422 19 was be VBD cord-014712-5u4e00q6 1422 20 detected detect VBN cord-014712-5u4e00q6 1422 21 . . . cord-014712-5u4e00q6 1423 1 Chronic chronic JJ cord-014712-5u4e00q6 1423 2 hepatitis hepatitis NN cord-014712-5u4e00q6 1423 3 C c NN cord-014712-5u4e00q6 1423 4 virus virus NN cord-014712-5u4e00q6 1423 5 infection infection NN cord-014712-5u4e00q6 1423 6 was be VBD cord-014712-5u4e00q6 1423 7 diagnosed diagnose VBN cord-014712-5u4e00q6 1423 8 and and CC cord-014712-5u4e00q6 1423 9 treatment treatment NN cord-014712-5u4e00q6 1423 10 with with IN cord-014712-5u4e00q6 1423 11 peginterferon peginterferon NNP cord-014712-5u4e00q6 1423 12 α-2a α-2a NNP cord-014712-5u4e00q6 1423 13 and and CC cord-014712-5u4e00q6 1423 14 ribavirin ribavirin NNP cord-014712-5u4e00q6 1423 15 was be VBD cord-014712-5u4e00q6 1423 16 started start VBN cord-014712-5u4e00q6 1423 17 . . . cord-014712-5u4e00q6 1424 1 Conclusion conclusion NN cord-014712-5u4e00q6 1424 2 : : : cord-014712-5u4e00q6 1425 1 Our -PRON- PRP$ cord-014712-5u4e00q6 1425 2 case case NN cord-014712-5u4e00q6 1425 3 emphasizes emphasize VBZ cord-014712-5u4e00q6 1425 4 the the DT cord-014712-5u4e00q6 1425 5 need need NN cord-014712-5u4e00q6 1425 6 for for IN cord-014712-5u4e00q6 1425 7 HCV HCV NNP cord-014712-5u4e00q6 1425 8 - - HYPH cord-014712-5u4e00q6 1425 9 RNA RNA NNP cord-014712-5u4e00q6 1425 10 and and CC cord-014712-5u4e00q6 1425 11 HBV HBV NNP cord-014712-5u4e00q6 1425 12 - - HYPH cord-014712-5u4e00q6 1425 13 DNA dna NN cord-014712-5u4e00q6 1425 14 analysis analysis NN cord-014712-5u4e00q6 1425 15 in in IN cord-014712-5u4e00q6 1425 16 patients patient NNS cord-014712-5u4e00q6 1425 17 with with IN cord-014712-5u4e00q6 1425 18 hypogammaglobulinaemia hypogammaglobulinaemia NNP cord-014712-5u4e00q6 1425 19 , , , cord-014712-5u4e00q6 1425 20 as as IN cord-014712-5u4e00q6 1425 21 the the DT cord-014712-5u4e00q6 1425 22 serological serological JJ cord-014712-5u4e00q6 1425 23 detection detection NN cord-014712-5u4e00q6 1425 24 is be VBZ cord-014712-5u4e00q6 1425 25 impaired impair VBN cord-014712-5u4e00q6 1425 26 and and CC cord-014712-5u4e00q6 1425 27 prognosis prognosis JJ cord-014712-5u4e00q6 1425 28 for for IN cord-014712-5u4e00q6 1425 29 chronic chronic JJ cord-014712-5u4e00q6 1425 30 hepatitis hepatitis NN cord-014712-5u4e00q6 1425 31 in in IN cord-014712-5u4e00q6 1425 32 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1425 33 patients patient NNS cord-014712-5u4e00q6 1425 34 is be VBZ cord-014712-5u4e00q6 1425 35 poor poor JJ cord-014712-5u4e00q6 1425 36 . . . cord-014712-5u4e00q6 1426 1 Outpaitent Outpaitent NNP cord-014712-5u4e00q6 1426 2 Clinic Clinic NNP cord-014712-5u4e00q6 1426 3 of of IN cord-014712-5u4e00q6 1426 4 Clinical Clinical NNP cord-014712-5u4e00q6 1426 5 Immunology Immunology NNP cord-014712-5u4e00q6 1426 6 and and CC cord-014712-5u4e00q6 1426 7 Allergology Allergology NNP cord-014712-5u4e00q6 1426 8 , , , cord-014712-5u4e00q6 1426 9 East East NNP cord-014712-5u4e00q6 1426 10 Tallinn Tallinn NNP cord-014712-5u4e00q6 1426 11 Central Central NNP cord-014712-5u4e00q6 1426 12 Hospital Hospital NNP cord-014712-5u4e00q6 1426 13 , , , cord-014712-5u4e00q6 1426 14 Tallinn Tallinn NNP cord-014712-5u4e00q6 1426 15 , , , cord-014712-5u4e00q6 1427 1 Estonia Estonia NNP cord-014712-5u4e00q6 1427 2 Background Background NNP cord-014712-5u4e00q6 1427 3 : : : cord-014712-5u4e00q6 1428 1 Primary primary JJ cord-014712-5u4e00q6 1428 2 antibody antibody NN cord-014712-5u4e00q6 1428 3 deficiencies deficiency NNS cord-014712-5u4e00q6 1428 4 are be VBP cord-014712-5u4e00q6 1428 5 the the DT cord-014712-5u4e00q6 1428 6 most most RBS cord-014712-5u4e00q6 1428 7 frequent frequent JJ cord-014712-5u4e00q6 1428 8 primary primary JJ cord-014712-5u4e00q6 1428 9 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 1428 10 . . . cord-014712-5u4e00q6 1429 1 Recurrent recurrent JJ cord-014712-5u4e00q6 1429 2 respiratory respiratory JJ cord-014712-5u4e00q6 1429 3 tract tract NN cord-014712-5u4e00q6 1429 4 infections infection NNS cord-014712-5u4e00q6 1429 5 may may MD cord-014712-5u4e00q6 1429 6 result result VB cord-014712-5u4e00q6 1429 7 in in IN cord-014712-5u4e00q6 1429 8 permanent permanent JJ cord-014712-5u4e00q6 1429 9 lung lung NN cord-014712-5u4e00q6 1429 10 damage damage NN cord-014712-5u4e00q6 1429 11 in in IN cord-014712-5u4e00q6 1429 12 20 20 CD cord-014712-5u4e00q6 1429 13 - - SYM cord-014712-5u4e00q6 1429 14 40 40 CD cord-014712-5u4e00q6 1429 15 % % NN cord-014712-5u4e00q6 1429 16 of of IN cord-014712-5u4e00q6 1429 17 patients patient NNS cord-014712-5u4e00q6 1429 18 , , , cord-014712-5u4e00q6 1429 19 most most RBS cord-014712-5u4e00q6 1429 20 commonly commonly RB cord-014712-5u4e00q6 1429 21 presenting present VBG cord-014712-5u4e00q6 1429 22 with with IN cord-014712-5u4e00q6 1429 23 the the DT cord-014712-5u4e00q6 1429 24 development development NN cord-014712-5u4e00q6 1429 25 of of IN cord-014712-5u4e00q6 1429 26 bronchiectasis bronchiectasis NN cord-014712-5u4e00q6 1429 27 . . . cord-014712-5u4e00q6 1430 1 We -PRON- PRP cord-014712-5u4e00q6 1430 2 aimed aim VBD cord-014712-5u4e00q6 1430 3 to to TO cord-014712-5u4e00q6 1430 4 evaluate evaluate VB cord-014712-5u4e00q6 1430 5 the the DT cord-014712-5u4e00q6 1430 6 lung lung NN cord-014712-5u4e00q6 1430 7 function function NN cord-014712-5u4e00q6 1430 8 and and CC cord-014712-5u4e00q6 1430 9 radiographic radiographic JJ cord-014712-5u4e00q6 1430 10 pulmonary pulmonary JJ cord-014712-5u4e00q6 1430 11 changes change NNS cord-014712-5u4e00q6 1430 12 in in IN cord-014712-5u4e00q6 1430 13 our -PRON- PRP$ cord-014712-5u4e00q6 1430 14 patients patient NNS cord-014712-5u4e00q6 1430 15 with with IN cord-014712-5u4e00q6 1430 16 primary primary JJ cord-014712-5u4e00q6 1430 17 antibody antibody NN cord-014712-5u4e00q6 1430 18 deficiency deficiency NN cord-014712-5u4e00q6 1430 19 . . . cord-014712-5u4e00q6 1431 1 Material material NN cord-014712-5u4e00q6 1431 2 and and CC cord-014712-5u4e00q6 1431 3 methods method NNS cord-014712-5u4e00q6 1432 1 : : : cord-014712-5u4e00q6 1432 2 We -PRON- PRP cord-014712-5u4e00q6 1432 3 reviewed review VBD cord-014712-5u4e00q6 1432 4 the the DT cord-014712-5u4e00q6 1432 5 records record NNS cord-014712-5u4e00q6 1432 6 of of IN cord-014712-5u4e00q6 1432 7 adult adult NN cord-014712-5u4e00q6 1432 8 patients patient NNS cord-014712-5u4e00q6 1432 9 with with IN cord-014712-5u4e00q6 1432 10 a a DT cord-014712-5u4e00q6 1432 11 confirmed confirm VBN cord-014712-5u4e00q6 1432 12 diagnosis diagnosis NN cord-014712-5u4e00q6 1432 13 of of IN cord-014712-5u4e00q6 1432 14 primary primary JJ cord-014712-5u4e00q6 1432 15 antibody antibody NN cord-014712-5u4e00q6 1432 16 deficiency deficiency NN cord-014712-5u4e00q6 1432 17 at at IN cord-014712-5u4e00q6 1432 18 our -PRON- PRP$ cord-014712-5u4e00q6 1432 19 clinic clinic NN cord-014712-5u4e00q6 1432 20 . . . cord-014712-5u4e00q6 1433 1 10 10 CD cord-014712-5u4e00q6 1433 2 patients patient NNS cord-014712-5u4e00q6 1433 3 were be VBD cord-014712-5u4e00q6 1433 4 included include VBN cord-014712-5u4e00q6 1433 5 in in IN cord-014712-5u4e00q6 1433 6 this this DT cord-014712-5u4e00q6 1433 7 analysis analysis NN cord-014712-5u4e00q6 1433 8 in in IN cord-014712-5u4e00q6 1433 9 whom whom WP cord-014712-5u4e00q6 1433 10 CT CT NNP cord-014712-5u4e00q6 1433 11 scan scan NNP cord-014712-5u4e00q6 1433 12 was be VBD cord-014712-5u4e00q6 1433 13 performed perform VBN cord-014712-5u4e00q6 1433 14 during during IN cord-014712-5u4e00q6 1433 15 the the DT cord-014712-5u4e00q6 1433 16 last last JJ cord-014712-5u4e00q6 1433 17 24 24 CD cord-014712-5u4e00q6 1433 18 months month NNS cord-014712-5u4e00q6 1433 19 , , , cord-014712-5u4e00q6 1433 20 comprising comprise VBG cord-014712-5u4e00q6 1433 21 8 8 CD cord-014712-5u4e00q6 1433 22 patients patient NNS cord-014712-5u4e00q6 1433 23 with with IN cord-014712-5u4e00q6 1433 24 CVID CVID NNP cord-014712-5u4e00q6 1433 25 and and CC cord-014712-5u4e00q6 1433 26 two two CD cord-014712-5u4e00q6 1433 27 with with IN cord-014712-5u4e00q6 1433 28 IgG IgG NNP cord-014712-5u4e00q6 1433 29 subclass subclass NN cord-014712-5u4e00q6 1433 30 deficiency deficiency NN cord-014712-5u4e00q6 1433 31 ( ( -LRB- cord-014712-5u4e00q6 1433 32 median median JJ cord-014712-5u4e00q6 1433 33 age age NN cord-014712-5u4e00q6 1433 34 33 33 CD cord-014712-5u4e00q6 1433 35 years year NNS cord-014712-5u4e00q6 1433 36 ; ; : cord-014712-5u4e00q6 1433 37 range range VBP cord-014712-5u4e00q6 1433 38 19 19 CD cord-014712-5u4e00q6 1433 39 - - SYM cord-014712-5u4e00q6 1433 40 68 68 CD cord-014712-5u4e00q6 1433 41 years year NNS cord-014712-5u4e00q6 1433 42 ; ; : cord-014712-5u4e00q6 1433 43 60 60 CD cord-014712-5u4e00q6 1433 44 % % NN cord-014712-5u4e00q6 1433 45 females female NNS cord-014712-5u4e00q6 1433 46 ) ) -RRB- cord-014712-5u4e00q6 1433 47 . . . cord-014712-5u4e00q6 1434 1 All all DT cord-014712-5u4e00q6 1434 2 patients patient NNS cord-014712-5u4e00q6 1434 3 were be VBD cord-014712-5u4e00q6 1434 4 on on IN cord-014712-5u4e00q6 1434 5 regular regular JJ cord-014712-5u4e00q6 1434 6 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1434 7 replacement replacement NN cord-014712-5u4e00q6 1434 8 and and CC cord-014712-5u4e00q6 1434 9 one one CD cord-014712-5u4e00q6 1434 10 of of IN cord-014712-5u4e00q6 1434 11 the the DT cord-014712-5u4e00q6 1434 12 patients patient NNS cord-014712-5u4e00q6 1434 13 was be VBD cord-014712-5u4e00q6 1434 14 on on IN cord-014712-5u4e00q6 1434 15 prophylactic prophylactic JJ cord-014712-5u4e00q6 1434 16 antibiotic antibiotic NN cord-014712-5u4e00q6 1434 17 at at IN cord-014712-5u4e00q6 1434 18 the the DT cord-014712-5u4e00q6 1434 19 time time NN cord-014712-5u4e00q6 1434 20 of of IN cord-014712-5u4e00q6 1434 21 analysis analysis NN cord-014712-5u4e00q6 1434 22 . . . cord-014712-5u4e00q6 1435 1 Mean mean JJ cord-014712-5u4e00q6 1435 2 trough trough NN cord-014712-5u4e00q6 1435 3 levels level NNS cord-014712-5u4e00q6 1435 4 of of IN cord-014712-5u4e00q6 1435 5 IgG igg NN cord-014712-5u4e00q6 1435 6 were be VBD cord-014712-5u4e00q6 1435 7 calculated calculate VBN cord-014712-5u4e00q6 1435 8 based base VBN cord-014712-5u4e00q6 1435 9 on on IN cord-014712-5u4e00q6 1435 10 the the DT cord-014712-5u4e00q6 1435 11 results result NNS cord-014712-5u4e00q6 1435 12 measured measure VBN cord-014712-5u4e00q6 1435 13 during during IN cord-014712-5u4e00q6 1435 14 the the DT cord-014712-5u4e00q6 1435 15 last last JJ cord-014712-5u4e00q6 1435 16 12 12 CD cord-014712-5u4e00q6 1435 17 months month NNS cord-014712-5u4e00q6 1435 18 prior prior RB cord-014712-5u4e00q6 1435 19 to to IN cord-014712-5u4e00q6 1435 20 CT CT NNP cord-014712-5u4e00q6 1435 21 scan scan NN cord-014712-5u4e00q6 1435 22 . . . cord-014712-5u4e00q6 1436 1 The the DT cord-014712-5u4e00q6 1436 2 spirometry spirometry NN cord-014712-5u4e00q6 1436 3 was be VBD cord-014712-5u4e00q6 1436 4 performed perform VBN cord-014712-5u4e00q6 1436 5 according accord VBG cord-014712-5u4e00q6 1436 6 to to IN cord-014712-5u4e00q6 1436 7 published publish VBN cord-014712-5u4e00q6 1436 8 protocols protocol NNS cord-014712-5u4e00q6 1436 9 . . . cord-014712-5u4e00q6 1437 1 Results result NNS cord-014712-5u4e00q6 1437 2 : : : cord-014712-5u4e00q6 1438 1 All all DT cord-014712-5u4e00q6 1438 2 patients patient NNS cord-014712-5u4e00q6 1438 3 demonstrated demonstrate VBD cord-014712-5u4e00q6 1438 4 normal normal JJ cord-014712-5u4e00q6 1438 5 spirometry spirometry JJ cord-014712-5u4e00q6 1438 6 data datum NNS cord-014712-5u4e00q6 1438 7 based base VBN cord-014712-5u4e00q6 1438 8 on on IN cord-014712-5u4e00q6 1438 9 FEV1 FEV1 NNP cord-014712-5u4e00q6 1438 10 and and CC cord-014712-5u4e00q6 1438 11 FVC FVC NNP cord-014712-5u4e00q6 1438 12 . . . cord-014712-5u4e00q6 1439 1 Two two CD cord-014712-5u4e00q6 1439 2 patients patient NNS cord-014712-5u4e00q6 1439 3 had have VBD cord-014712-5u4e00q6 1439 4 slightly slightly RB cord-014712-5u4e00q6 1439 5 lower low JJR cord-014712-5u4e00q6 1439 6 MMEF MMEF NNP cord-014712-5u4e00q6 1439 7 rates rate NNS cord-014712-5u4e00q6 1439 8 , , , cord-014712-5u4e00q6 1439 9 however however RB cord-014712-5u4e00q6 1439 10 , , , cord-014712-5u4e00q6 1439 11 the the DT cord-014712-5u4e00q6 1439 12 changes change NNS cord-014712-5u4e00q6 1439 13 were be VBD cord-014712-5u4e00q6 1439 14 not not RB cord-014712-5u4e00q6 1439 15 associated associate VBN cord-014712-5u4e00q6 1439 16 with with IN cord-014712-5u4e00q6 1439 17 higher high JJR cord-014712-5u4e00q6 1439 18 rate rate NN cord-014712-5u4e00q6 1439 19 of of IN cord-014712-5u4e00q6 1439 20 infection infection NN cord-014712-5u4e00q6 1439 21 nor nor CC cord-014712-5u4e00q6 1439 22 changes change NNS cord-014712-5u4e00q6 1439 23 in in IN cord-014712-5u4e00q6 1439 24 CT CT NNP cord-014712-5u4e00q6 1439 25 scan scan NN cord-014712-5u4e00q6 1439 26 . . . cord-014712-5u4e00q6 1440 1 None none NN cord-014712-5u4e00q6 1440 2 of of IN cord-014712-5u4e00q6 1440 3 our -PRON- PRP$ cord-014712-5u4e00q6 1440 4 patients patient NNS cord-014712-5u4e00q6 1440 5 had have VBD cord-014712-5u4e00q6 1440 6 bronchiectasis bronchiectasi NNS cord-014712-5u4e00q6 1440 7 or or CC cord-014712-5u4e00q6 1440 8 atelectasis atelectasis NN cord-014712-5u4e00q6 1440 9 . . . cord-014712-5u4e00q6 1441 1 Among among IN cord-014712-5u4e00q6 1441 2 parenchymal parenchymal JJ cord-014712-5u4e00q6 1441 3 changes change NNS cord-014712-5u4e00q6 1441 4 fibrotic fibrotic JJ cord-014712-5u4e00q6 1441 5 lines line NNS cord-014712-5u4e00q6 1441 6 were be VBD cord-014712-5u4e00q6 1441 7 most most RBS cord-014712-5u4e00q6 1441 8 frequently frequently RB cord-014712-5u4e00q6 1441 9 detected detect VBN cord-014712-5u4e00q6 1441 10 . . . cord-014712-5u4e00q6 1442 1 In in IN cord-014712-5u4e00q6 1442 2 two two CD cord-014712-5u4e00q6 1442 3 patients patient NNS cord-014712-5u4e00q6 1442 4 ground ground NN cord-014712-5u4e00q6 1442 5 glass glass NN cord-014712-5u4e00q6 1442 6 due due JJ cord-014712-5u4e00q6 1442 7 to to IN cord-014712-5u4e00q6 1442 8 fibrosis fibrosis NN cord-014712-5u4e00q6 1442 9 was be VBD cord-014712-5u4e00q6 1442 10 noted note VBN cord-014712-5u4e00q6 1442 11 . . . cord-014712-5u4e00q6 1443 1 Mean mean JJ cord-014712-5u4e00q6 1443 2 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1443 3 trough trough NN cord-014712-5u4e00q6 1443 4 levels level NNS cord-014712-5u4e00q6 1443 5 in in IN cord-014712-5u4e00q6 1443 6 our -PRON- PRP$ cord-014712-5u4e00q6 1443 7 patients patient NNS cord-014712-5u4e00q6 1443 8 were be VBD cord-014712-5u4e00q6 1443 9 between between IN cord-014712-5u4e00q6 1443 10 4.9 4.9 CD cord-014712-5u4e00q6 1443 11 - - HYPH cord-014712-5u4e00q6 1443 12 8.6g 8.6g CD cord-014712-5u4e00q6 1443 13 / / SYM cord-014712-5u4e00q6 1443 14 L l NN cord-014712-5u4e00q6 1443 15 , , , cord-014712-5u4e00q6 1443 16 with with IN cord-014712-5u4e00q6 1443 17 the the DT cord-014712-5u4e00q6 1443 18 median median NN cord-014712-5u4e00q6 1443 19 of of IN cord-014712-5u4e00q6 1443 20 mean mean JJ cord-014712-5u4e00q6 1443 21 trough trough NN cord-014712-5u4e00q6 1443 22 levels level NNS cord-014712-5u4e00q6 1443 23 of of IN cord-014712-5u4e00q6 1443 24 all all DT cord-014712-5u4e00q6 1443 25 our -PRON- PRP$ cord-014712-5u4e00q6 1443 26 patients patient NNS cord-014712-5u4e00q6 1443 27 6.9g 6.9g NNP cord-014712-5u4e00q6 1443 28 / / SYM cord-014712-5u4e00q6 1443 29 L. L. NNP cord-014712-5u4e00q6 1444 1 When when WRB cord-014712-5u4e00q6 1444 2 comparing compare VBG cord-014712-5u4e00q6 1444 3 the the DT cord-014712-5u4e00q6 1444 4 trough trough NN cord-014712-5u4e00q6 1444 5 levels level NNS cord-014712-5u4e00q6 1444 6 to to IN cord-014712-5u4e00q6 1444 7 lung lung NN cord-014712-5u4e00q6 1444 8 function function NN cord-014712-5u4e00q6 1444 9 and and CC cord-014712-5u4e00q6 1444 10 CT CT NNP cord-014712-5u4e00q6 1444 11 scan scan JJ cord-014712-5u4e00q6 1444 12 results result NNS cord-014712-5u4e00q6 1444 13 , , , cord-014712-5u4e00q6 1444 14 no no DT cord-014712-5u4e00q6 1444 15 significant significant JJ cord-014712-5u4e00q6 1444 16 associations association NNS cord-014712-5u4e00q6 1444 17 were be VBD cord-014712-5u4e00q6 1444 18 seen see VBN cord-014712-5u4e00q6 1444 19 . . . cord-014712-5u4e00q6 1445 1 Conclusion conclusion NN cord-014712-5u4e00q6 1445 2 : : : cord-014712-5u4e00q6 1446 1 No no DT cord-014712-5u4e00q6 1446 2 remarkable remarkable JJ cord-014712-5u4e00q6 1446 3 changes change NNS cord-014712-5u4e00q6 1446 4 in in IN cord-014712-5u4e00q6 1446 5 lung lung NN cord-014712-5u4e00q6 1446 6 function function NN cord-014712-5u4e00q6 1446 7 or or CC cord-014712-5u4e00q6 1446 8 chest chest NN cord-014712-5u4e00q6 1446 9 CT CT NNP cord-014712-5u4e00q6 1446 10 scan scan NN cord-014712-5u4e00q6 1446 11 in in IN cord-014712-5u4e00q6 1446 12 our -PRON- PRP$ cord-014712-5u4e00q6 1446 13 patients patient NNS cord-014712-5u4e00q6 1446 14 with with IN cord-014712-5u4e00q6 1446 15 primary primary JJ cord-014712-5u4e00q6 1446 16 antibody antibody NN cord-014712-5u4e00q6 1446 17 deficiency deficiency NN cord-014712-5u4e00q6 1446 18 were be VBD cord-014712-5u4e00q6 1446 19 noted note VBN cord-014712-5u4e00q6 1446 20 . . . cord-014712-5u4e00q6 1447 1 As as IN cord-014712-5u4e00q6 1447 2 regular regular JJ cord-014712-5u4e00q6 1447 3 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1447 4 replacement replacement NN cord-014712-5u4e00q6 1447 5 therapy therapy NN cord-014712-5u4e00q6 1447 6 could could MD cord-014712-5u4e00q6 1447 7 have have VB cord-014712-5u4e00q6 1447 8 prevented prevent VBN cord-014712-5u4e00q6 1447 9 the the DT cord-014712-5u4e00q6 1447 10 development development NN cord-014712-5u4e00q6 1447 11 of of IN cord-014712-5u4e00q6 1447 12 permanent permanent JJ cord-014712-5u4e00q6 1447 13 lung lung NN cord-014712-5u4e00q6 1447 14 damage damage NN cord-014712-5u4e00q6 1447 15 . . . cord-014712-5u4e00q6 1448 1 Rationale rationale NN cord-014712-5u4e00q6 1448 2 : : : cord-014712-5u4e00q6 1449 1 Patients patient NNS cord-014712-5u4e00q6 1449 2 with with IN cord-014712-5u4e00q6 1449 3 primary primary JJ cord-014712-5u4e00q6 1449 4 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 1449 5 ( ( -LRB- cord-014712-5u4e00q6 1449 6 PI PI NNP cord-014712-5u4e00q6 1449 7 ) ) -RRB- cord-014712-5u4e00q6 1450 1 ( ( -LRB- cord-014712-5u4e00q6 1450 2 N n NN cord-014712-5u4e00q6 1450 3 = = SYM cord-014712-5u4e00q6 1450 4 83 83 CD cord-014712-5u4e00q6 1450 5 ) ) -RRB- cord-014712-5u4e00q6 1450 6 were be VBD cord-014712-5u4e00q6 1450 7 treated treat VBN cord-014712-5u4e00q6 1450 8 subcutaneously subcutaneously RB cord-014712-5u4e00q6 1450 9 ( ( -LRB- cord-014712-5u4e00q6 1450 10 SC SC NNP cord-014712-5u4e00q6 1450 11 ) ) -RRB- cord-014712-5u4e00q6 1450 12 with with IN cord-014712-5u4e00q6 1450 13 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1450 14 G g NN cord-014712-5u4e00q6 1450 15 ( ( -LRB- cord-014712-5u4e00q6 1450 16 IG IG NNP cord-014712-5u4e00q6 1450 17 ) ) -RRB- cord-014712-5u4e00q6 1450 18 preceded precede VBN cord-014712-5u4e00q6 1450 19 by by IN cord-014712-5u4e00q6 1450 20 recombinant recombinant JJ cord-014712-5u4e00q6 1450 21 human human JJ cord-014712-5u4e00q6 1450 22 hyaluronidase hyaluronidase NN cord-014712-5u4e00q6 1450 23 ( ( -LRB- cord-014712-5u4e00q6 1450 24 IGHy IGHy NNP cord-014712-5u4e00q6 1450 25 ) ) -RRB- cord-014712-5u4e00q6 1450 26 at at IN cord-014712-5u4e00q6 1450 27 3 3 CD cord-014712-5u4e00q6 1450 28 or or CC cord-014712-5u4e00q6 1450 29 4 4 CD cord-014712-5u4e00q6 1450 30 week week NN cord-014712-5u4e00q6 1450 31 intervals interval NNS cord-014712-5u4e00q6 1450 32 based base VBN cord-014712-5u4e00q6 1450 33 on on IN cord-014712-5u4e00q6 1450 34 their -PRON- PRP$ cord-014712-5u4e00q6 1450 35 previous previous JJ cord-014712-5u4e00q6 1450 36 intravenous intravenous JJ cord-014712-5u4e00q6 1450 37 IG ig NN cord-014712-5u4e00q6 1450 38 ( ( -LRB- cord-014712-5u4e00q6 1450 39 IGIV IGIV NNP cord-014712-5u4e00q6 1450 40 ) ) -RRB- cord-014712-5u4e00q6 1450 41 dose dose NN cord-014712-5u4e00q6 1450 42 . . . cord-014712-5u4e00q6 1451 1 We -PRON- PRP cord-014712-5u4e00q6 1451 2 report report VBP cord-014712-5u4e00q6 1451 3 data datum NNS cord-014712-5u4e00q6 1451 4 for for IN cord-014712-5u4e00q6 1451 5 a a DT cord-014712-5u4e00q6 1451 6 subset subset NN cord-014712-5u4e00q6 1451 7 of of IN cord-014712-5u4e00q6 1451 8 59 59 CD cord-014712-5u4e00q6 1451 9 patients patient NNS cord-014712-5u4e00q6 1451 10 aged age VBN cord-014712-5u4e00q6 1451 11 ≥18 ≥18 IN cord-014712-5u4e00q6 1451 12 years year NNS cord-014712-5u4e00q6 1451 13 from from IN cord-014712-5u4e00q6 1451 14 the the DT cord-014712-5u4e00q6 1451 15 final final JJ cord-014712-5u4e00q6 1451 16 efficacy efficacy NN cord-014712-5u4e00q6 1451 17 , , , cord-014712-5u4e00q6 1451 18 safety safety NN cord-014712-5u4e00q6 1451 19 and and CC cord-014712-5u4e00q6 1451 20 tolerability tolerability NN cord-014712-5u4e00q6 1451 21 data datum NNS cord-014712-5u4e00q6 1451 22 of of IN cord-014712-5u4e00q6 1451 23 a a DT cord-014712-5u4e00q6 1451 24 pivotal pivotal JJ cord-014712-5u4e00q6 1451 25 phase phase NN cord-014712-5u4e00q6 1451 26 3 3 CD cord-014712-5u4e00q6 1451 27 trial trial NN cord-014712-5u4e00q6 1451 28 of of IN cord-014712-5u4e00q6 1451 29 IGHy IGHy NNS cord-014712-5u4e00q6 1451 30 . . . cord-014712-5u4e00q6 1452 1 Methods method NNS cord-014712-5u4e00q6 1452 2 : : : cord-014712-5u4e00q6 1452 3 Patients patient NNS cord-014712-5u4e00q6 1452 4 received receive VBD cord-014712-5u4e00q6 1452 5 IGIV IGIV NNP cord-014712-5u4e00q6 1452 6 for for IN cord-014712-5u4e00q6 1452 7 3 3 CD cord-014712-5u4e00q6 1452 8 months month NNS cord-014712-5u4e00q6 1452 9 at at IN cord-014712-5u4e00q6 1452 10 prestudy prestudy NN cord-014712-5u4e00q6 1452 11 doses dose NNS cord-014712-5u4e00q6 1452 12 and and CC cord-014712-5u4e00q6 1452 13 frequencies frequency NNS cord-014712-5u4e00q6 1452 14 . . . cord-014712-5u4e00q6 1453 1 Subsequently subsequently RB cord-014712-5u4e00q6 1453 2 , , , cord-014712-5u4e00q6 1453 3 IG IG NNP cord-014712-5u4e00q6 1453 4 10 10 CD cord-014712-5u4e00q6 1453 5 % % NN cord-014712-5u4e00q6 1453 6 was be VBD cord-014712-5u4e00q6 1453 7 administered administer VBN cord-014712-5u4e00q6 1453 8 SC SC NNP cord-014712-5u4e00q6 1453 9 , , , cord-014712-5u4e00q6 1453 10 at at IN cord-014712-5u4e00q6 1453 11 108 108 CD cord-014712-5u4e00q6 1453 12 % % NN cord-014712-5u4e00q6 1453 13 of of IN cord-014712-5u4e00q6 1453 14 the the DT cord-014712-5u4e00q6 1453 15 weekly weekly JJ cord-014712-5u4e00q6 1453 16 equivalent equivalent NN cord-014712-5u4e00q6 1453 17 of of IN cord-014712-5u4e00q6 1453 18 the the DT cord-014712-5u4e00q6 1453 19 IV IV NNP cord-014712-5u4e00q6 1453 20 dose dose NN cord-014712-5u4e00q6 1453 21 , , , cord-014712-5u4e00q6 1453 22 following follow VBG cord-014712-5u4e00q6 1453 23 rHuPH20 rhuph20 ADD cord-014712-5u4e00q6 1453 24 infused infuse VBN cord-014712-5u4e00q6 1453 25 through through IN cord-014712-5u4e00q6 1453 26 the the DT cord-014712-5u4e00q6 1453 27 same same JJ cord-014712-5u4e00q6 1453 28 SC SC NNP cord-014712-5u4e00q6 1453 29 needle needle NN cord-014712-5u4e00q6 1453 30 at at IN cord-014712-5u4e00q6 1453 31 a a DT cord-014712-5u4e00q6 1453 32 dose dose NN cord-014712-5u4e00q6 1453 33 of of IN cord-014712-5u4e00q6 1453 34 75 75 CD cord-014712-5u4e00q6 1453 35 U u NN cord-014712-5u4e00q6 1453 36 / / SYM cord-014712-5u4e00q6 1453 37 g g NN cord-014712-5u4e00q6 1454 1 IgG. IgG. NNP cord-014712-5u4e00q6 1454 2 After after IN cord-014712-5u4e00q6 1454 3 a a DT cord-014712-5u4e00q6 1454 4 ramp ramp NN cord-014712-5u4e00q6 1454 5 up up RP cord-014712-5u4e00q6 1454 6 from from IN cord-014712-5u4e00q6 1454 7 a a DT cord-014712-5u4e00q6 1454 8 1-to 1-to NN cord-014712-5u4e00q6 1454 9 a a DT cord-014712-5u4e00q6 1454 10 3-or 3-or CD cord-014712-5u4e00q6 1454 11 4-week 4-week CD cord-014712-5u4e00q6 1454 12 dose dose NN cord-014712-5u4e00q6 1454 13 interval interval NN cord-014712-5u4e00q6 1454 14 , , , cord-014712-5u4e00q6 1454 15 59 59 CD cord-014712-5u4e00q6 1454 16 patients patient NNS cord-014712-5u4e00q6 1454 17 received receive VBD cord-014712-5u4e00q6 1454 18 IGHy IGHy NNS cord-014712-5u4e00q6 1454 19 every every DT cord-014712-5u4e00q6 1454 20 3 3 CD cord-014712-5u4e00q6 1454 21 4 4 CD cord-014712-5u4e00q6 1454 22 weeks week NNS cord-014712-5u4e00q6 1454 23 for for IN cord-014712-5u4e00q6 1454 24 12 12 CD cord-014712-5u4e00q6 1454 25 months month NNS cord-014712-5u4e00q6 1454 26 . . . cord-014712-5u4e00q6 1455 1 The the DT cord-014712-5u4e00q6 1455 2 primary primary JJ cord-014712-5u4e00q6 1455 3 efficacy efficacy NN cord-014712-5u4e00q6 1455 4 endpoint endpoint NN cord-014712-5u4e00q6 1455 5 was be VBD cord-014712-5u4e00q6 1455 6 the the DT cord-014712-5u4e00q6 1455 7 mean mean JJ cord-014712-5u4e00q6 1455 8 rate rate NN cord-014712-5u4e00q6 1455 9 of of IN cord-014712-5u4e00q6 1455 10 validated validate VBN cord-014712-5u4e00q6 1455 11 acute acute JJ cord-014712-5u4e00q6 1455 12 serious serious JJ cord-014712-5u4e00q6 1455 13 bacterial bacterial JJ cord-014712-5u4e00q6 1455 14 infections infection NNS cord-014712-5u4e00q6 1455 15 ( ( -LRB- cord-014712-5u4e00q6 1455 16 SBIs sbi NNS cord-014712-5u4e00q6 1455 17 ) ) -RRB- cord-014712-5u4e00q6 1455 18 per per IN cord-014712-5u4e00q6 1455 19 patient patient NN cord-014712-5u4e00q6 1455 20 - - HYPH cord-014712-5u4e00q6 1455 21 year year NN cord-014712-5u4e00q6 1455 22 during during IN cord-014712-5u4e00q6 1455 23 the the DT cord-014712-5u4e00q6 1455 24 efficacy efficacy NN cord-014712-5u4e00q6 1455 25 period period NN cord-014712-5u4e00q6 1455 26 . . . cord-014712-5u4e00q6 1456 1 Results result NNS cord-014712-5u4e00q6 1456 2 : : : cord-014712-5u4e00q6 1457 1 Fifty fifty CD cord-014712-5u4e00q6 1457 2 - - HYPH cord-014712-5u4e00q6 1457 3 nine nine CD cord-014712-5u4e00q6 1457 4 patients patient NNS cord-014712-5u4e00q6 1457 5 received receive VBD cord-014712-5u4e00q6 1457 6 985 985 CD cord-014712-5u4e00q6 1457 7 IGHy ighy NN cord-014712-5u4e00q6 1457 8 infusions infusion NNS cord-014712-5u4e00q6 1457 9 ; ; : cord-014712-5u4e00q6 1457 10 97.8 97.8 CD cord-014712-5u4e00q6 1457 11 % % NN cord-014712-5u4e00q6 1457 12 were be VBD cord-014712-5u4e00q6 1457 13 completed complete VBN cord-014712-5u4e00q6 1457 14 without without IN cord-014712-5u4e00q6 1457 15 administration administration NN cord-014712-5u4e00q6 1457 16 changes change NNS cord-014712-5u4e00q6 1457 17 due due JJ cord-014712-5u4e00q6 1457 18 to to IN cord-014712-5u4e00q6 1457 19 tolerability tolerability NN cord-014712-5u4e00q6 1457 20 concerns concern NNS cord-014712-5u4e00q6 1457 21 or or CC cord-014712-5u4e00q6 1457 22 adverse adverse JJ cord-014712-5u4e00q6 1457 23 events event NNS cord-014712-5u4e00q6 1457 24 ( ( -LRB- cord-014712-5u4e00q6 1457 25 AEs AEs NNP cord-014712-5u4e00q6 1457 26 ) ) -RRB- cord-014712-5u4e00q6 1457 27 . . . cord-014712-5u4e00q6 1458 1 Median median JJ cord-014712-5u4e00q6 1458 2 infusion infusion NN cord-014712-5u4e00q6 1458 3 sites site NNS cord-014712-5u4e00q6 1458 4 / / SYM cord-014712-5u4e00q6 1458 5 month month NN cord-014712-5u4e00q6 1458 6 was be VBD cord-014712-5u4e00q6 1458 7 1.13 1.13 CD cord-014712-5u4e00q6 1458 8 . . . cord-014712-5u4e00q6 1459 1 The the DT cord-014712-5u4e00q6 1459 2 temporally temporally RB cord-014712-5u4e00q6 1459 3 associated associate VBN cord-014712-5u4e00q6 1459 4 systemic systemic JJ cord-014712-5u4e00q6 1459 5 AE ae NN cord-014712-5u4e00q6 1459 6 rate rate NN cord-014712-5u4e00q6 1459 7 was be VBD cord-014712-5u4e00q6 1459 8 0.20 0.20 CD cord-014712-5u4e00q6 1459 9 / / SYM cord-014712-5u4e00q6 1459 10 infusion infusion NN cord-014712-5u4e00q6 1459 11 ( ( -LRB- cord-014712-5u4e00q6 1459 12 IGHy IGHy NNP cord-014712-5u4e00q6 1459 13 ) ) -RRB- cord-014712-5u4e00q6 1459 14 vs. vs. FW cord-014712-5u4e00q6 1459 15 0.33 0.33 CD cord-014712-5u4e00q6 1459 16 / / SYM cord-014712-5u4e00q6 1459 17 infusion infusion NN cord-014712-5u4e00q6 1459 18 ( ( -LRB- cord-014712-5u4e00q6 1459 19 IGIV IGIV NNP cord-014712-5u4e00q6 1459 20 ) ) -RRB- cord-014712-5u4e00q6 1459 21 . . . cord-014712-5u4e00q6 1460 1 The the DT cord-014712-5u4e00q6 1460 2 local local JJ cord-014712-5u4e00q6 1460 3 adverse adverse JJ cord-014712-5u4e00q6 1460 4 drug drug NN cord-014712-5u4e00q6 1460 5 reaction reaction NN cord-014712-5u4e00q6 1460 6 rate rate NN cord-014712-5u4e00q6 1460 7 was be VBD cord-014712-5u4e00q6 1460 8 0.286 0.286 CD cord-014712-5u4e00q6 1460 9 / / SYM cord-014712-5u4e00q6 1460 10 infusion infusion NN cord-014712-5u4e00q6 1460 11 . . . cord-014712-5u4e00q6 1461 1 The the DT cord-014712-5u4e00q6 1461 2 annual annual JJ cord-014712-5u4e00q6 1461 3 SBI sbi NN cord-014712-5u4e00q6 1461 4 rate rate NN cord-014712-5u4e00q6 1461 5 was be VBD cord-014712-5u4e00q6 1461 6 0.00 0.00 CD cord-014712-5u4e00q6 1461 7 and and CC cord-014712-5u4e00q6 1461 8 3.10 3.10 CD cord-014712-5u4e00q6 1461 9 / / SYM cord-014712-5u4e00q6 1461 10 patientyear patientyear NN cord-014712-5u4e00q6 1461 11 for for IN cord-014712-5u4e00q6 1461 12 all all DT cord-014712-5u4e00q6 1461 13 infections infection NNS cord-014712-5u4e00q6 1461 14 . . . cord-014712-5u4e00q6 1462 1 Conclusion conclusion NN cord-014712-5u4e00q6 1462 2 : : : cord-014712-5u4e00q6 1463 1 In in IN cord-014712-5u4e00q6 1463 2 adults adult NNS cord-014712-5u4e00q6 1463 3 with with IN cord-014712-5u4e00q6 1463 4 PI PI NNP cord-014712-5u4e00q6 1463 5 , , , cord-014712-5u4e00q6 1463 6 IGHy IGHy NNP cord-014712-5u4e00q6 1463 7 was be VBD cord-014712-5u4e00q6 1463 8 effective effective JJ cord-014712-5u4e00q6 1463 9 in in IN cord-014712-5u4e00q6 1463 10 preventing prevent VBG cord-014712-5u4e00q6 1463 11 infections infection NNS cord-014712-5u4e00q6 1463 12 . . . cord-014712-5u4e00q6 1464 1 The the DT cord-014712-5u4e00q6 1464 2 majority majority NN cord-014712-5u4e00q6 1464 3 of of IN cord-014712-5u4e00q6 1464 4 patients patient NNS cord-014712-5u4e00q6 1464 5 received receive VBD cord-014712-5u4e00q6 1464 6 full full JJ cord-014712-5u4e00q6 1464 7 3-to 3-to CD cord-014712-5u4e00q6 1464 8 4-weekly 4-weekly CD cord-014712-5u4e00q6 1464 9 doses dose NNS cord-014712-5u4e00q6 1464 10 of of IN cord-014712-5u4e00q6 1464 11 IG IG NNP cord-014712-5u4e00q6 1464 12 using use VBG cord-014712-5u4e00q6 1464 13 a a DT cord-014712-5u4e00q6 1464 14 single single JJ cord-014712-5u4e00q6 1464 15 SC SC NNP cord-014712-5u4e00q6 1464 16 site site NN cord-014712-5u4e00q6 1464 17 with with IN cord-014712-5u4e00q6 1464 18 good good JJ cord-014712-5u4e00q6 1464 19 local local JJ cord-014712-5u4e00q6 1464 20 and and CC cord-014712-5u4e00q6 1464 21 systemic systemic JJ cord-014712-5u4e00q6 1464 22 tolerability tolerability NN cord-014712-5u4e00q6 1464 23 . . . cord-014712-5u4e00q6 1465 1 Rationale rationale NN cord-014712-5u4e00q6 1465 2 : : : cord-014712-5u4e00q6 1466 1 In in IN cord-014712-5u4e00q6 1466 2 a a DT cord-014712-5u4e00q6 1466 3 pivotal pivotal JJ cord-014712-5u4e00q6 1466 4 phase phase NN cord-014712-5u4e00q6 1466 5 3 3 CD cord-014712-5u4e00q6 1466 6 trial trial NN cord-014712-5u4e00q6 1466 7 of of IN cord-014712-5u4e00q6 1466 8 facilitated facilitate VBN cord-014712-5u4e00q6 1466 9 - - HYPH cord-014712-5u4e00q6 1466 10 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 1466 11 ( ( -LRB- cord-014712-5u4e00q6 1466 12 SC SC NNP cord-014712-5u4e00q6 1466 13 ) ) -RRB- cord-014712-5u4e00q6 1466 14 infusion infusion NN cord-014712-5u4e00q6 1466 15 of of IN cord-014712-5u4e00q6 1466 16 human human JJ cord-014712-5u4e00q6 1466 17 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1466 18 G G NNP cord-014712-5u4e00q6 1466 19 ( ( -LRB- cord-014712-5u4e00q6 1466 20 IgG IgG NNP cord-014712-5u4e00q6 1466 21 ) ) -RRB- cord-014712-5u4e00q6 1466 22 , , , cord-014712-5u4e00q6 1466 23 10 10 CD cord-014712-5u4e00q6 1466 24 % % NN cord-014712-5u4e00q6 1466 25 , , , cord-014712-5u4e00q6 1466 26 and and CC cord-014712-5u4e00q6 1466 27 recombinant recombinant JJ cord-014712-5u4e00q6 1466 28 human human JJ cord-014712-5u4e00q6 1466 29 hyaluronidase hyaluronidase NN cord-014712-5u4e00q6 1466 30 ( ( -LRB- cord-014712-5u4e00q6 1466 31 rHuPH20 rHuPH20 NNP cord-014712-5u4e00q6 1466 32 ) ) -RRB- cord-014712-5u4e00q6 1466 33 ( ( -LRB- cord-014712-5u4e00q6 1466 34 IGHy IGHy NNP cord-014712-5u4e00q6 1466 35 ) ) -RRB- cord-014712-5u4e00q6 1466 36 in in IN cord-014712-5u4e00q6 1466 37 patients patient NNS cord-014712-5u4e00q6 1466 38 with with IN cord-014712-5u4e00q6 1466 39 PI PI NNP cord-014712-5u4e00q6 1466 40 , , , cord-014712-5u4e00q6 1466 41 rHuPH20 rHuPH20 NNP cord-014712-5u4e00q6 1466 42 permitted permit VBD cord-014712-5u4e00q6 1466 43 most most JJS cord-014712-5u4e00q6 1466 44 patients patient NNS cord-014712-5u4e00q6 1466 45 to to TO cord-014712-5u4e00q6 1466 46 have have VB cord-014712-5u4e00q6 1466 47 a a DT cord-014712-5u4e00q6 1466 48 single single JJ cord-014712-5u4e00q6 1466 49 - - HYPH cord-014712-5u4e00q6 1466 50 site site NN cord-014712-5u4e00q6 1466 51 infusion infusion NN cord-014712-5u4e00q6 1466 52 ( ( -LRB- cord-014712-5u4e00q6 1466 53 every every DT cord-014712-5u4e00q6 1466 54 3 3 CD cord-014712-5u4e00q6 1466 55 - - HYPH cord-014712-5u4e00q6 1466 56 4-week 4-week CD cord-014712-5u4e00q6 1466 57 IgG igg NN cord-014712-5u4e00q6 1466 58 dosing dose VBG cord-014712-5u4e00q6 1466 59 ) ) -RRB- cord-014712-5u4e00q6 1466 60 with with IN cord-014712-5u4e00q6 1466 61 bioavailability bioavailability NN cord-014712-5u4e00q6 1466 62 and and CC cord-014712-5u4e00q6 1466 63 infusion infusion NN cord-014712-5u4e00q6 1466 64 rates rate NNS cord-014712-5u4e00q6 1466 65 comparable comparable JJ cord-014712-5u4e00q6 1466 66 to to IN cord-014712-5u4e00q6 1466 67 intravenously intravenously RB cord-014712-5u4e00q6 1466 68 administered administer VBN cord-014712-5u4e00q6 1466 69 IgG igg NN cord-014712-5u4e00q6 1466 70 ( ( -LRB- cord-014712-5u4e00q6 1466 71 IGIV IGIV NNP cord-014712-5u4e00q6 1466 72 ) ) -RRB- cord-014712-5u4e00q6 1466 73 . . . cord-014712-5u4e00q6 1467 1 We -PRON- PRP cord-014712-5u4e00q6 1467 2 report report VBP cord-014712-5u4e00q6 1467 3 the the DT cord-014712-5u4e00q6 1467 4 final final JJ cord-014712-5u4e00q6 1467 5 analysis analysis NN cord-014712-5u4e00q6 1467 6 of of IN cord-014712-5u4e00q6 1467 7 the the DT cord-014712-5u4e00q6 1467 8 long long JJ cord-014712-5u4e00q6 1467 9 - - HYPH cord-014712-5u4e00q6 1467 10 term term NN cord-014712-5u4e00q6 1467 11 extension extension NN cord-014712-5u4e00q6 1467 12 of of IN cord-014712-5u4e00q6 1467 13 the the DT cord-014712-5u4e00q6 1467 14 initial initial JJ cord-014712-5u4e00q6 1467 15 phase phase NN cord-014712-5u4e00q6 1467 16 3 3 CD cord-014712-5u4e00q6 1467 17 study study NN cord-014712-5u4e00q6 1467 18 , , , cord-014712-5u4e00q6 1467 19 with with IN cord-014712-5u4e00q6 1467 20 a a DT cord-014712-5u4e00q6 1467 21 duration duration NN cord-014712-5u4e00q6 1467 22 of of IN cord-014712-5u4e00q6 1467 23 up up IN cord-014712-5u4e00q6 1467 24 to to TO cord-014712-5u4e00q6 1467 25 3 3 CD cord-014712-5u4e00q6 1467 26 years year NNS cord-014712-5u4e00q6 1467 27 of of IN cord-014712-5u4e00q6 1467 28 treatment treatment NN cord-014712-5u4e00q6 1467 29 with with IN cord-014712-5u4e00q6 1467 30 IGHy ighy NN cord-014712-5u4e00q6 1467 31 plus plus CC cord-014712-5u4e00q6 1467 32 additional additional JJ cord-014712-5u4e00q6 1467 33 follow follow NN cord-014712-5u4e00q6 1467 34 - - HYPH cord-014712-5u4e00q6 1467 35 up up NN cord-014712-5u4e00q6 1467 36 . . . cord-014712-5u4e00q6 1468 1 Methods method NNS cord-014712-5u4e00q6 1468 2 : : : cord-014712-5u4e00q6 1468 3 Sixty sixty CD cord-014712-5u4e00q6 1468 4 - - HYPH cord-014712-5u4e00q6 1468 5 six six CD cord-014712-5u4e00q6 1468 6 patients patient NNS cord-014712-5u4e00q6 1468 7 who who WP cord-014712-5u4e00q6 1468 8 completed complete VBD cord-014712-5u4e00q6 1468 9 the the DT cord-014712-5u4e00q6 1468 10 initial initial JJ cord-014712-5u4e00q6 1468 11 phase phase NN cord-014712-5u4e00q6 1468 12 3 3 CD cord-014712-5u4e00q6 1468 13 study study NN cord-014712-5u4e00q6 1468 14 enrolled enrol VBN cord-014712-5u4e00q6 1468 15 in in IN cord-014712-5u4e00q6 1468 16 the the DT cord-014712-5u4e00q6 1468 17 Extension Extension NNP cord-014712-5u4e00q6 1468 18 study study NN cord-014712-5u4e00q6 1468 19 . . . cord-014712-5u4e00q6 1469 1 Patients patient NNS cord-014712-5u4e00q6 1469 2 continued continue VBD cord-014712-5u4e00q6 1469 3 their -PRON- PRP$ cord-014712-5u4e00q6 1469 4 pre pre JJ cord-014712-5u4e00q6 1469 5 - - JJ cord-014712-5u4e00q6 1469 6 study study JJ cord-014712-5u4e00q6 1469 7 IGHy IGHy NNS cord-014712-5u4e00q6 1469 8 dose dose NN cord-014712-5u4e00q6 1469 9 / / SYM cord-014712-5u4e00q6 1469 10 frequency frequency NN cord-014712-5u4e00q6 1469 11 every every DT cord-014712-5u4e00q6 1469 12 3 3 CD cord-014712-5u4e00q6 1469 13 - - SYM cord-014712-5u4e00q6 1469 14 4 4 CD cord-014712-5u4e00q6 1469 15 weeks week NNS cord-014712-5u4e00q6 1469 16 . . . cord-014712-5u4e00q6 1470 1 After after IN cord-014712-5u4e00q6 1470 2 3 3 CD cord-014712-5u4e00q6 1470 3 months month NNS cord-014712-5u4e00q6 1470 4 , , , cord-014712-5u4e00q6 1470 5 some some DT cord-014712-5u4e00q6 1470 6 patients patient NNS cord-014712-5u4e00q6 1470 7 switched switch VBD cord-014712-5u4e00q6 1470 8 to to IN cord-014712-5u4e00q6 1470 9 2-week 2-week JJ cord-014712-5u4e00q6 1470 10 dosing dose VBG cord-014712-5u4e00q6 1470 11 to to TO cord-014712-5u4e00q6 1470 12 evaluate evaluate VB cord-014712-5u4e00q6 1470 13 effects effect NNS cord-014712-5u4e00q6 1470 14 of of IN cord-014712-5u4e00q6 1470 15 shorter short JJR cord-014712-5u4e00q6 1470 16 IGHy ighy NN cord-014712-5u4e00q6 1470 17 interval interval NN cord-014712-5u4e00q6 1470 18 on on IN cord-014712-5u4e00q6 1470 19 trough trough NN cord-014712-5u4e00q6 1470 20 IgG igg NN cord-014712-5u4e00q6 1470 21 levels level NNS cord-014712-5u4e00q6 1470 22 . . . cord-014712-5u4e00q6 1471 1 From from IN cord-014712-5u4e00q6 1471 2 the the DT cord-014712-5u4e00q6 1471 3 final final JJ cord-014712-5u4e00q6 1471 4 analysis analysis NN cord-014712-5u4e00q6 1471 5 , , , cord-014712-5u4e00q6 1471 6 tolerability tolerability NN cord-014712-5u4e00q6 1471 7 and and CC cord-014712-5u4e00q6 1471 8 safety safety NN cord-014712-5u4e00q6 1471 9 after after IN cord-014712-5u4e00q6 1471 10 up up IN cord-014712-5u4e00q6 1471 11 to to TO cord-014712-5u4e00q6 1471 12 3 3 CD cord-014712-5u4e00q6 1471 13 years year NNS cord-014712-5u4e00q6 1471 14 of of IN cord-014712-5u4e00q6 1471 15 treatment treatment NN cord-014712-5u4e00q6 1471 16 were be VBD cord-014712-5u4e00q6 1471 17 evaluated evaluate VBN cord-014712-5u4e00q6 1471 18 . . . cord-014712-5u4e00q6 1472 1 The the DT cord-014712-5u4e00q6 1472 2 IGHy ighy JJ cord-014712-5u4e00q6 1472 3 part part NN cord-014712-5u4e00q6 1472 4 of of IN cord-014712-5u4e00q6 1472 5 the the DT cord-014712-5u4e00q6 1472 6 Extension Extension NNP cord-014712-5u4e00q6 1472 7 study study NN cord-014712-5u4e00q6 1472 8 was be VBD cord-014712-5u4e00q6 1472 9 followed follow VBN cord-014712-5u4e00q6 1472 10 by by IN cord-014712-5u4e00q6 1472 11 a a DT cord-014712-5u4e00q6 1472 12 24 24 CD cord-014712-5u4e00q6 1472 13 - - SYM cord-014712-5u4e00q6 1472 14 48 48 CD cord-014712-5u4e00q6 1472 15 week week NN cord-014712-5u4e00q6 1472 16 observation observation NN cord-014712-5u4e00q6 1472 17 period period NN cord-014712-5u4e00q6 1472 18 during during IN cord-014712-5u4e00q6 1472 19 which which WDT cord-014712-5u4e00q6 1472 20 patients patient NNS cord-014712-5u4e00q6 1472 21 received receive VBD cord-014712-5u4e00q6 1472 22 IgG IgG NNP cord-014712-5u4e00q6 1472 23 10 10 CD cord-014712-5u4e00q6 1472 24 % % NN cord-014712-5u4e00q6 1472 25 administered administer VBN cord-014712-5u4e00q6 1472 26 IV IV NNP cord-014712-5u4e00q6 1472 27 , , , cord-014712-5u4e00q6 1472 28 or or CC cord-014712-5u4e00q6 1472 29 SC SC NNP cord-014712-5u4e00q6 1472 30 weekly weekly NN cord-014712-5u4e00q6 1472 31 without without IN cord-014712-5u4e00q6 1472 32 rHuPH20 rHuPH20 NNP cord-014712-5u4e00q6 1472 33 . . . cord-014712-5u4e00q6 1473 1 Results result NNS cord-014712-5u4e00q6 1473 2 : : : cord-014712-5u4e00q6 1474 1 In in IN cord-014712-5u4e00q6 1474 2 the the DT cord-014712-5u4e00q6 1474 3 Extension Extension NNP cord-014712-5u4e00q6 1474 4 study study NN cord-014712-5u4e00q6 1474 5 , , , cord-014712-5u4e00q6 1474 6 66 66 CD cord-014712-5u4e00q6 1474 7 patients patient NNS cord-014712-5u4e00q6 1474 8 were be VBD cord-014712-5u4e00q6 1474 9 treated treat VBN cord-014712-5u4e00q6 1474 10 with with IN cord-014712-5u4e00q6 1474 11 IGHy IGHy NNS cord-014712-5u4e00q6 1474 12 and and CC cord-014712-5u4e00q6 1474 13 14 14 CD cord-014712-5u4e00q6 1474 14 discontinued discontinue VBD cord-014712-5u4e00q6 1474 15 prior prior RB cord-014712-5u4e00q6 1474 16 to to IN cord-014712-5u4e00q6 1474 17 safety safety NN cord-014712-5u4e00q6 1474 18 follow follow NN cord-014712-5u4e00q6 1474 19 - - HYPH cord-014712-5u4e00q6 1474 20 up up NN cord-014712-5u4e00q6 1474 21 . . . cord-014712-5u4e00q6 1475 1 Following follow VBG cord-014712-5u4e00q6 1475 2 discontinuation discontinuation NN cord-014712-5u4e00q6 1475 3 of of IN cord-014712-5u4e00q6 1475 4 rHuPH20 rHuPH20 NNP cord-014712-5u4e00q6 1475 5 , , , cord-014712-5u4e00q6 1475 6 48 48 CD cord-014712-5u4e00q6 1475 7 patients patient NNS cord-014712-5u4e00q6 1475 8 switched switch VBD cord-014712-5u4e00q6 1475 9 to to TO cord-014712-5u4e00q6 1475 10 follow follow VB cord-014712-5u4e00q6 1475 11 - - HYPH cord-014712-5u4e00q6 1475 12 up up NN cord-014712-5u4e00q6 1475 13 . . . cord-014712-5u4e00q6 1476 1 No no DT cord-014712-5u4e00q6 1476 2 patients patient NNS cord-014712-5u4e00q6 1476 3 withdrew withdraw VBD cord-014712-5u4e00q6 1476 4 due due IN cord-014712-5u4e00q6 1476 5 to to IN cord-014712-5u4e00q6 1476 6 IGHy ighy NN cord-014712-5u4e00q6 1476 7 - - HYPH cord-014712-5u4e00q6 1476 8 related relate VBN cord-014712-5u4e00q6 1476 9 reactions reaction NNS cord-014712-5u4e00q6 1476 10 ( ( -LRB- cord-014712-5u4e00q6 1476 11 ADRs adr NNS cord-014712-5u4e00q6 1476 12 ) ) -RRB- cord-014712-5u4e00q6 1476 13 . . . cord-014712-5u4e00q6 1477 1 No no DT cord-014712-5u4e00q6 1477 2 serious serious JJ cord-014712-5u4e00q6 1477 3 ADRs adr NNS cord-014712-5u4e00q6 1477 4 related relate VBN cord-014712-5u4e00q6 1477 5 to to IN cord-014712-5u4e00q6 1477 6 IGHy IGHy NNS cord-014712-5u4e00q6 1477 7 were be VBD cord-014712-5u4e00q6 1477 8 reported report VBN cord-014712-5u4e00q6 1477 9 . . . cord-014712-5u4e00q6 1478 1 The the DT cord-014712-5u4e00q6 1478 2 maximum maximum JJ cord-014712-5u4e00q6 1478 3 IGHy ighy NN cord-014712-5u4e00q6 1478 4 exposure exposure NN cord-014712-5u4e00q6 1478 5 for for IN cord-014712-5u4e00q6 1478 6 the the DT cord-014712-5u4e00q6 1478 7 initial initial JJ cord-014712-5u4e00q6 1478 8 and and CC cord-014712-5u4e00q6 1478 9 Extension Extension NNP cord-014712-5u4e00q6 1478 10 studies study NNS cord-014712-5u4e00q6 1478 11 combined combine VBN cord-014712-5u4e00q6 1478 12 was be VBD cord-014712-5u4e00q6 1478 13 3 3 CD cord-014712-5u4e00q6 1478 14 years year NNS cord-014712-5u4e00q6 1478 15 ( ( -LRB- cord-014712-5u4e00q6 1478 16 total total JJ cord-014712-5u4e00q6 1478 17 exposure exposure NN cord-014712-5u4e00q6 1478 18 = = SYM cord-014712-5u4e00q6 1478 19 187.69 187.69 CD cord-014712-5u4e00q6 1478 20 patient patient NN cord-014712-5u4e00q6 1478 21 - - HYPH cord-014712-5u4e00q6 1478 22 years year NNS cord-014712-5u4e00q6 1478 23 ; ; : cord-014712-5u4e00q6 1478 24 N n CD cord-014712-5u4e00q6 1478 25 = = SYM cord-014712-5u4e00q6 1478 26 2959 2959 CD cord-014712-5u4e00q6 1478 27 IGHy IGHy VBN cord-014712-5u4e00q6 1478 28 infusions infusion NNS cord-014712-5u4e00q6 1478 29 ) ) -RRB- cord-014712-5u4e00q6 1478 30 ; ; : cord-014712-5u4e00q6 1478 31 during during IN cord-014712-5u4e00q6 1478 32 this this DT cord-014712-5u4e00q6 1478 33 time time NN cord-014712-5u4e00q6 1478 34 , , , cord-014712-5u4e00q6 1478 35 there there EX cord-014712-5u4e00q6 1478 36 were be VBD cord-014712-5u4e00q6 1478 37 no no DT cord-014712-5u4e00q6 1478 38 clinically clinically RB cord-014712-5u4e00q6 1478 39 observable observable JJ cord-014712-5u4e00q6 1478 40 long long JJ cord-014712-5u4e00q6 1478 41 - - HYPH cord-014712-5u4e00q6 1478 42 term term NN cord-014712-5u4e00q6 1478 43 changes change NNS cord-014712-5u4e00q6 1478 44 in in IN cord-014712-5u4e00q6 1478 45 the the DT cord-014712-5u4e00q6 1478 46 skin skin NN cord-014712-5u4e00q6 1478 47 or or CC cord-014712-5u4e00q6 1478 48 SC SC NNP cord-014712-5u4e00q6 1478 49 tissue tissue NN cord-014712-5u4e00q6 1478 50 . . . cord-014712-5u4e00q6 1479 1 The the DT cord-014712-5u4e00q6 1479 2 rate rate NN cord-014712-5u4e00q6 1479 3 of of IN cord-014712-5u4e00q6 1479 4 temporally temporally RB cord-014712-5u4e00q6 1479 5 related relate VBN cord-014712-5u4e00q6 1479 6 systemic systemic JJ cord-014712-5u4e00q6 1479 7 adverse adverse JJ cord-014712-5u4e00q6 1479 8 events event NNS cord-014712-5u4e00q6 1479 9 ( ( -LRB- cord-014712-5u4e00q6 1479 10 AEs AEs NNP cord-014712-5u4e00q6 1479 11 ) ) -RRB- cord-014712-5u4e00q6 1479 12 , , , cord-014712-5u4e00q6 1479 13 excluding exclude VBG cord-014712-5u4e00q6 1479 14 infections infection NNS cord-014712-5u4e00q6 1479 15 , , , cord-014712-5u4e00q6 1479 16 was be VBD cord-014712-5u4e00q6 1479 17 0.159/ 0.159/ CD cord-014712-5u4e00q6 1479 18 infusion infusion NN cord-014712-5u4e00q6 1479 19 . . . cord-014712-5u4e00q6 1480 1 The the DT cord-014712-5u4e00q6 1480 2 rate rate NN cord-014712-5u4e00q6 1480 3 of of IN cord-014712-5u4e00q6 1480 4 all all DT cord-014712-5u4e00q6 1480 5 local local JJ cord-014712-5u4e00q6 1480 6 AEs AEs NNP cord-014712-5u4e00q6 1480 7 was be VBD cord-014712-5u4e00q6 1480 8 0.103 0.103 CD cord-014712-5u4e00q6 1480 9 / / SYM cord-014712-5u4e00q6 1480 10 infusion infusion NN cord-014712-5u4e00q6 1480 11 . . . cord-014712-5u4e00q6 1481 1 Of of IN cord-014712-5u4e00q6 1481 2 the the DT cord-014712-5u4e00q6 1481 3 1600 1600 CD cord-014712-5u4e00q6 1481 4 IGHy IGHy NNS cord-014712-5u4e00q6 1481 5 infusions infusion NNS cord-014712-5u4e00q6 1481 6 administered administer VBN cord-014712-5u4e00q6 1481 7 in in IN cord-014712-5u4e00q6 1481 8 the the DT cord-014712-5u4e00q6 1481 9 Extension Extension NNP cord-014712-5u4e00q6 1481 10 study study NN cord-014712-5u4e00q6 1481 11 , , , cord-014712-5u4e00q6 1481 12 97.9 97.9 CD cord-014712-5u4e00q6 1481 13 % % NN cord-014712-5u4e00q6 1481 14 had have VBD cord-014712-5u4e00q6 1481 15 no no DT cord-014712-5u4e00q6 1481 16 administration administration NN cord-014712-5u4e00q6 1481 17 changes change NNS cord-014712-5u4e00q6 1481 18 ( ( -LRB- cord-014712-5u4e00q6 1481 19 rate rate NN cord-014712-5u4e00q6 1481 20 reduction reduction NN cord-014712-5u4e00q6 1481 21 , , , cord-014712-5u4e00q6 1481 22 interruption interruption NN cord-014712-5u4e00q6 1481 23 or or CC cord-014712-5u4e00q6 1481 24 discontinuation discontinuation NN cord-014712-5u4e00q6 1481 25 ) ) -RRB- cord-014712-5u4e00q6 1481 26 due due IN cord-014712-5u4e00q6 1481 27 to to IN cord-014712-5u4e00q6 1481 28 tolerability tolerability NN cord-014712-5u4e00q6 1481 29 concerns concern NNS cord-014712-5u4e00q6 1481 30 or or CC cord-014712-5u4e00q6 1481 31 adverse adverse JJ cord-014712-5u4e00q6 1481 32 events event NNS cord-014712-5u4e00q6 1481 33 . . . cord-014712-5u4e00q6 1482 1 The the DT cord-014712-5u4e00q6 1482 2 annual annual JJ cord-014712-5u4e00q6 1482 3 rate rate NN cord-014712-5u4e00q6 1482 4 of of IN cord-014712-5u4e00q6 1482 5 all all DT cord-014712-5u4e00q6 1482 6 infections infection NNS cord-014712-5u4e00q6 1482 7 under under IN cord-014712-5u4e00q6 1482 8 IGHy ighy NN cord-014712-5u4e00q6 1482 9 treatment treatment NN cord-014712-5u4e00q6 1482 10 was be VBD cord-014712-5u4e00q6 1482 11 2.86 2.86 CD cord-014712-5u4e00q6 1482 12 / / SYM cord-014712-5u4e00q6 1482 13 patient patient NN cord-014712-5u4e00q6 1482 14 - - HYPH cord-014712-5u4e00q6 1482 15 year year NN cord-014712-5u4e00q6 1482 16 . . . cord-014712-5u4e00q6 1483 1 Reducing reduce VBG cord-014712-5u4e00q6 1483 2 the the DT cord-014712-5u4e00q6 1483 3 dosing dosing NN cord-014712-5u4e00q6 1483 4 interval interval NN cord-014712-5u4e00q6 1483 5 from from IN cord-014712-5u4e00q6 1483 6 4 4 CD cord-014712-5u4e00q6 1483 7 to to TO cord-014712-5u4e00q6 1483 8 2 2 CD cord-014712-5u4e00q6 1483 9 weeks week NNS cord-014712-5u4e00q6 1483 10 ( ( -LRB- cord-014712-5u4e00q6 1483 11 same same JJ cord-014712-5u4e00q6 1483 12 monthly monthly JJ cord-014712-5u4e00q6 1483 13 dose dose NN cord-014712-5u4e00q6 1483 14 ) ) -RRB- cord-014712-5u4e00q6 1483 15 resulted result VBD cord-014712-5u4e00q6 1483 16 in in IN cord-014712-5u4e00q6 1483 17 a a DT cord-014712-5u4e00q6 1483 18 13 13 CD cord-014712-5u4e00q6 1483 19 % % NN cord-014712-5u4e00q6 1483 20 increase increase NN cord-014712-5u4e00q6 1483 21 in in IN cord-014712-5u4e00q6 1483 22 trough trough NN cord-014712-5u4e00q6 1483 23 IgG igg NN cord-014712-5u4e00q6 1483 24 levels level NNS cord-014712-5u4e00q6 1483 25 . . . cord-014712-5u4e00q6 1484 1 Thirteen thirteen CD cord-014712-5u4e00q6 1484 2 patients patient NNS cord-014712-5u4e00q6 1484 3 had have VBD cord-014712-5u4e00q6 1484 4 at at RB cord-014712-5u4e00q6 1484 5 least least JJS cord-014712-5u4e00q6 1484 6 1 1 CD cord-014712-5u4e00q6 1484 7 non non JJ cord-014712-5u4e00q6 1484 8 - - JJ cord-014712-5u4e00q6 1484 9 neutralizing neutralizing JJ cord-014712-5u4e00q6 1484 10 anti anti JJ cord-014712-5u4e00q6 1484 11 - - JJ cord-014712-5u4e00q6 1484 12 rHuPH20 rhuph20 JJ cord-014712-5u4e00q6 1484 13 antibody antibody NN cord-014712-5u4e00q6 1484 14 titer titer NN cord-014712-5u4e00q6 1484 15 of of IN cord-014712-5u4e00q6 1484 16 ≥1:160 ≥1:160 NNP cord-014712-5u4e00q6 1484 17 with with IN cord-014712-5u4e00q6 1484 18 no no DT cord-014712-5u4e00q6 1484 19 associated associate VBN cord-014712-5u4e00q6 1484 20 AEs AEs NNP cord-014712-5u4e00q6 1484 21 ; ; : cord-014712-5u4e00q6 1484 22 no no DT cord-014712-5u4e00q6 1484 23 patients patient NNS cord-014712-5u4e00q6 1484 24 had have VBD cord-014712-5u4e00q6 1484 25 neutralizing neutralize VBG cord-014712-5u4e00q6 1484 26 anti anti AFX cord-014712-5u4e00q6 1484 27 - - JJ cord-014712-5u4e00q6 1484 28 rHuPH20 rhuph20 JJ cord-014712-5u4e00q6 1484 29 antibodies antibody NNS cord-014712-5u4e00q6 1484 30 . . . cord-014712-5u4e00q6 1485 1 Conclusions conclusion NNS cord-014712-5u4e00q6 1485 2 : : : cord-014712-5u4e00q6 1486 1 In in IN cord-014712-5u4e00q6 1486 2 the the DT cord-014712-5u4e00q6 1486 3 Extension Extension NNP cord-014712-5u4e00q6 1486 4 study study NN cord-014712-5u4e00q6 1486 5 , , , cord-014712-5u4e00q6 1486 6 IGHy IGHy NNP cord-014712-5u4e00q6 1486 7 was be VBD cord-014712-5u4e00q6 1486 8 well well RB cord-014712-5u4e00q6 1486 9 tolerated tolerate VBN cord-014712-5u4e00q6 1486 10 and and CC cord-014712-5u4e00q6 1486 11 effective effective JJ cord-014712-5u4e00q6 1486 12 , , , cord-014712-5u4e00q6 1486 13 with with IN cord-014712-5u4e00q6 1486 14 no no DT cord-014712-5u4e00q6 1486 15 serious serious JJ cord-014712-5u4e00q6 1486 16 ADRs adr NNS cord-014712-5u4e00q6 1486 17 for for IN cord-014712-5u4e00q6 1486 18 treatment treatment NN cord-014712-5u4e00q6 1486 19 periods period NNS cord-014712-5u4e00q6 1486 20 up up IN cord-014712-5u4e00q6 1486 21 to to TO cord-014712-5u4e00q6 1486 22 2 2 CD cord-014712-5u4e00q6 1486 23 years year NNS cord-014712-5u4e00q6 1486 24 . . . cord-014712-5u4e00q6 1487 1 Over over IN cord-014712-5u4e00q6 1487 2 a a DT cord-014712-5u4e00q6 1487 3 maximum maximum JJ cord-014712-5u4e00q6 1487 4 3-year 3-year JJ cord-014712-5u4e00q6 1487 5 IGHy ighy NN cord-014712-5u4e00q6 1487 6 exposure exposure NN cord-014712-5u4e00q6 1487 7 ( ( -LRB- cord-014712-5u4e00q6 1487 8 for for IN cord-014712-5u4e00q6 1487 9 an an DT cord-014712-5u4e00q6 1487 10 individual individual JJ cord-014712-5u4e00q6 1487 11 patient patient NN cord-014712-5u4e00q6 1487 12 ) ) -RRB- cord-014712-5u4e00q6 1487 13 in in IN cord-014712-5u4e00q6 1487 14 the the DT cord-014712-5u4e00q6 1487 15 initial initial JJ cord-014712-5u4e00q6 1487 16 phase phase NN cord-014712-5u4e00q6 1487 17 3 3 CD cord-014712-5u4e00q6 1487 18 and and CC cord-014712-5u4e00q6 1487 19 Extension Extension NNP cord-014712-5u4e00q6 1487 20 studies study NNS cord-014712-5u4e00q6 1487 21 combined combine VBN cord-014712-5u4e00q6 1487 22 , , , cord-014712-5u4e00q6 1487 23 no no DT cord-014712-5u4e00q6 1487 24 long long JJ cord-014712-5u4e00q6 1487 25 - - HYPH cord-014712-5u4e00q6 1487 26 term term NN cord-014712-5u4e00q6 1487 27 changes change NNS cord-014712-5u4e00q6 1487 28 in in IN cord-014712-5u4e00q6 1487 29 skin skin NN cord-014712-5u4e00q6 1487 30 or or CC cord-014712-5u4e00q6 1487 31 SC SC NNP cord-014712-5u4e00q6 1487 32 tissue tissue NN cord-014712-5u4e00q6 1487 33 were be VBD cord-014712-5u4e00q6 1487 34 observed observe VBN cord-014712-5u4e00q6 1487 35 . . . cord-014712-5u4e00q6 1488 1 The the DT cord-014712-5u4e00q6 1488 2 rates rate NNS cord-014712-5u4e00q6 1488 3 of of IN cord-014712-5u4e00q6 1488 4 infections infection NNS cord-014712-5u4e00q6 1488 5 and and CC cord-014712-5u4e00q6 1488 6 adverse adverse JJ cord-014712-5u4e00q6 1488 7 reactions reaction NNS cord-014712-5u4e00q6 1488 8 were be VBD cord-014712-5u4e00q6 1488 9 stable stable JJ cord-014712-5u4e00q6 1488 10 or or CC cord-014712-5u4e00q6 1488 11 decreased decrease VBD cord-014712-5u4e00q6 1488 12 over over IN cord-014712-5u4e00q6 1488 13 the the DT cord-014712-5u4e00q6 1488 14 course course NN cord-014712-5u4e00q6 1488 15 of of IN cord-014712-5u4e00q6 1488 16 the the DT cord-014712-5u4e00q6 1488 17 two two CD cord-014712-5u4e00q6 1488 18 studies study NNS cord-014712-5u4e00q6 1488 19 , , , cord-014712-5u4e00q6 1488 20 suggesting suggest VBG cord-014712-5u4e00q6 1488 21 no no DT cord-014712-5u4e00q6 1488 22 increased increase VBN cord-014712-5u4e00q6 1488 23 risk risk NN cord-014712-5u4e00q6 1488 24 with with IN cord-014712-5u4e00q6 1488 25 continued continue VBN cord-014712-5u4e00q6 1488 26 exposure exposure NN cord-014712-5u4e00q6 1488 27 to to IN cord-014712-5u4e00q6 1488 28 IGHy IGHy NNP cord-014712-5u4e00q6 1488 29 . . . cord-014712-5u4e00q6 1489 1 Rationale rationale NN cord-014712-5u4e00q6 1489 2 : : : cord-014712-5u4e00q6 1490 1 We -PRON- PRP cord-014712-5u4e00q6 1490 2 report report VBP cord-014712-5u4e00q6 1490 3 interim interim JJ cord-014712-5u4e00q6 1490 4 analysis analysis NN cord-014712-5u4e00q6 1490 5 of of IN cord-014712-5u4e00q6 1490 6 safety safety NN cord-014712-5u4e00q6 1490 7 , , , cord-014712-5u4e00q6 1490 8 tolerability tolerability NN cord-014712-5u4e00q6 1490 9 and and CC cord-014712-5u4e00q6 1490 10 pharmacokinetics pharmacokinetic NNS cord-014712-5u4e00q6 1490 11 ( ( -LRB- cord-014712-5u4e00q6 1490 12 PK PK NNP cord-014712-5u4e00q6 1490 13 ) ) -RRB- cord-014712-5u4e00q6 1490 14 of of IN cord-014712-5u4e00q6 1490 15 IGSC IGSC NNP cord-014712-5u4e00q6 1490 16 20 20 CD cord-014712-5u4e00q6 1490 17 % % NN cord-014712-5u4e00q6 1490 18 in in IN cord-014712-5u4e00q6 1490 19 patients patient NNS cord-014712-5u4e00q6 1490 20 with with IN cord-014712-5u4e00q6 1490 21 primary primary JJ cord-014712-5u4e00q6 1490 22 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 1490 23 ( ( -LRB- cord-014712-5u4e00q6 1490 24 PI PI NNP cord-014712-5u4e00q6 1490 25 ) ) -RRB- cord-014712-5u4e00q6 1490 26 aged age VBN cord-014712-5u4e00q6 1490 27 ≥2 ≥2 NNP cord-014712-5u4e00q6 1490 28 years year NNS cord-014712-5u4e00q6 1490 29 in in IN cord-014712-5u4e00q6 1490 30 Europe Europe NNP cord-014712-5u4e00q6 1490 31 . . . cord-014712-5u4e00q6 1491 1 Methods method NNS cord-014712-5u4e00q6 1491 2 : : : cord-014712-5u4e00q6 1491 3 Epoch epoch NN cord-014712-5u4e00q6 1491 4 1 1 CD cord-014712-5u4e00q6 1491 5 : : : cord-014712-5u4e00q6 1491 6 IGSC IGSC NNP cord-014712-5u4e00q6 1491 7 16 16 CD cord-014712-5u4e00q6 1491 8 % % NN cord-014712-5u4e00q6 1491 9 or or CC cord-014712-5u4e00q6 1491 10 intravenous intravenous JJ cord-014712-5u4e00q6 1491 11 IG IG NNP cord-014712-5u4e00q6 1491 12 10 10 CD cord-014712-5u4e00q6 1491 13 % % NN cord-014712-5u4e00q6 1491 14 ( ( -LRB- cord-014712-5u4e00q6 1491 15 IGIV IGIV NNP cord-014712-5u4e00q6 1491 16 ) ) -RRB- cord-014712-5u4e00q6 1491 17 administered administer VBN cord-014712-5u4e00q6 1491 18 at at IN cord-014712-5u4e00q6 1491 19 pre pre JJ cord-014712-5u4e00q6 1491 20 - - JJ cord-014712-5u4e00q6 1491 21 study study JJ cord-014712-5u4e00q6 1491 22 doses dose NNS cord-014712-5u4e00q6 1491 23 every every DT cord-014712-5u4e00q6 1491 24 3 3 CD cord-014712-5u4e00q6 1491 25 months month NNS cord-014712-5u4e00q6 1491 26 . . . cord-014712-5u4e00q6 1492 1 Epoch epoch NN cord-014712-5u4e00q6 1492 2 2 2 CD cord-014712-5u4e00q6 1492 3 : : : cord-014712-5u4e00q6 1492 4 IGSC IGSC NNP cord-014712-5u4e00q6 1492 5 20 20 CD cord-014712-5u4e00q6 1492 6 % % NN cord-014712-5u4e00q6 1492 7 administered administer VBD cord-014712-5u4e00q6 1492 8 1 1 CD cord-014712-5u4e00q6 1492 9 time time NN cord-014712-5u4e00q6 1492 10 per per IN cord-014712-5u4e00q6 1492 11 week week NN cord-014712-5u4e00q6 1492 12 for for IN cord-014712-5u4e00q6 1492 13 12 12 CD cord-014712-5u4e00q6 1492 14 months month NNS cord-014712-5u4e00q6 1492 15 at at IN cord-014712-5u4e00q6 1492 16 Epoch epoch NN cord-014712-5u4e00q6 1492 17 1 1 CD cord-014712-5u4e00q6 1492 18 doses dose NNS cord-014712-5u4e00q6 1492 19 . . . cord-014712-5u4e00q6 1493 1 Serum serum NN cord-014712-5u4e00q6 1493 2 IgG igg NN cord-014712-5u4e00q6 1493 3 trough trough NN cord-014712-5u4e00q6 1493 4 levels level NNS cord-014712-5u4e00q6 1493 5 are be VBP cord-014712-5u4e00q6 1493 6 maintained maintain VBN cord-014712-5u4e00q6 1493 7 at at IN cord-014712-5u4e00q6 1493 8 > > XX cord-014712-5u4e00q6 1493 9 5 5 CD cord-014712-5u4e00q6 1493 10 g g NN cord-014712-5u4e00q6 1493 11 / / SYM cord-014712-5u4e00q6 1493 12 L. L. NNP cord-014712-5u4e00q6 1494 1 The the DT cord-014712-5u4e00q6 1494 2 primary primary JJ cord-014712-5u4e00q6 1494 3 endpoint endpoint NN cord-014712-5u4e00q6 1494 4 is be VBZ cord-014712-5u4e00q6 1494 5 validated validate VBN cord-014712-5u4e00q6 1494 6 acute acute JJ cord-014712-5u4e00q6 1494 7 serious serious JJ cord-014712-5u4e00q6 1494 8 bacterial bacterial JJ cord-014712-5u4e00q6 1494 9 infection infection NN cord-014712-5u4e00q6 1494 10 ( ( -LRB- cord-014712-5u4e00q6 1494 11 SBI SBI NNP cord-014712-5u4e00q6 1494 12 ) ) -RRB- cord-014712-5u4e00q6 1494 13 rate rate NN cord-014712-5u4e00q6 1494 14 . . . cord-014712-5u4e00q6 1495 1 Results result NNS cord-014712-5u4e00q6 1495 2 : : : cord-014712-5u4e00q6 1496 1 At at IN cord-014712-5u4e00q6 1496 2 the the DT cord-014712-5u4e00q6 1496 3 interim interim JJ cord-014712-5u4e00q6 1496 4 analysis analysis NN cord-014712-5u4e00q6 1496 5 in in IN cord-014712-5u4e00q6 1496 6 October October NNP cord-014712-5u4e00q6 1496 7 2013 2013 CD cord-014712-5u4e00q6 1496 8 , , , cord-014712-5u4e00q6 1496 9 49 49 CD cord-014712-5u4e00q6 1496 10 patients patient NNS cord-014712-5u4e00q6 1496 11 started start VBD cord-014712-5u4e00q6 1496 12 the the DT cord-014712-5u4e00q6 1496 13 study study NN cord-014712-5u4e00q6 1496 14 . . . cord-014712-5u4e00q6 1497 1 During during IN cord-014712-5u4e00q6 1497 2 IGSC IGSC NNP cord-014712-5u4e00q6 1497 3 20 20 CD cord-014712-5u4e00q6 1497 4 % % NN cord-014712-5u4e00q6 1497 5 treatment treatment NN cord-014712-5u4e00q6 1497 6 ( ( -LRB- cord-014712-5u4e00q6 1497 7 n n NN cord-014712-5u4e00q6 1497 8 = = SYM cord-014712-5u4e00q6 1497 9 48 48 CD cord-014712-5u4e00q6 1497 10 ) ) -RRB- cord-014712-5u4e00q6 1497 11 , , , cord-014712-5u4e00q6 1497 12 1 1 CD cord-014712-5u4e00q6 1497 13 acute acute JJ cord-014712-5u4e00q6 1497 14 SBI SBI NNP cord-014712-5u4e00q6 1497 15 episode episode NN cord-014712-5u4e00q6 1497 16 ( ( -LRB- cord-014712-5u4e00q6 1497 17 pneumonia pneumonia NN cord-014712-5u4e00q6 1497 18 , , , cord-014712-5u4e00q6 1497 19 moderate moderate JJ cord-014712-5u4e00q6 1497 20 in in IN cord-014712-5u4e00q6 1497 21 severity severity NN cord-014712-5u4e00q6 1497 22 ) ) -RRB- cord-014712-5u4e00q6 1497 23 was be VBD cord-014712-5u4e00q6 1497 24 reported report VBN cord-014712-5u4e00q6 1497 25 . . . cord-014712-5u4e00q6 1498 1 The the DT cord-014712-5u4e00q6 1498 2 infection infection NN cord-014712-5u4e00q6 1498 3 rate rate NN cord-014712-5u4e00q6 1498 4 per per IN cord-014712-5u4e00q6 1498 5 patientyear patientyear NN cord-014712-5u4e00q6 1498 6 was be VBD cord-014712-5u4e00q6 1498 7 4.3 4.3 CD cord-014712-5u4e00q6 1498 8 ( ( -LRB- cord-014712-5u4e00q6 1498 9 IGSC IGSC NNP cord-014712-5u4e00q6 1498 10 20 20 CD cord-014712-5u4e00q6 1498 11 % % NN cord-014712-5u4e00q6 1498 12 ) ) -RRB- cord-014712-5u4e00q6 1498 13 . . . cord-014712-5u4e00q6 1499 1 There there EX cord-014712-5u4e00q6 1499 2 were be VBD cord-014712-5u4e00q6 1499 3 no no DT cord-014712-5u4e00q6 1499 4 serious serious JJ cord-014712-5u4e00q6 1499 5 adverse adverse JJ cord-014712-5u4e00q6 1499 6 events event NNS cord-014712-5u4e00q6 1499 7 considered consider VBN cord-014712-5u4e00q6 1499 8 related related JJ cord-014712-5u4e00q6 1499 9 to to IN cord-014712-5u4e00q6 1499 10 any any DT cord-014712-5u4e00q6 1499 11 treatment treatment NN cord-014712-5u4e00q6 1499 12 . . . cord-014712-5u4e00q6 1500 1 The the DT cord-014712-5u4e00q6 1500 2 rate rate NN cord-014712-5u4e00q6 1500 3 of of IN cord-014712-5u4e00q6 1500 4 local local JJ cord-014712-5u4e00q6 1500 5 adverse adverse JJ cord-014712-5u4e00q6 1500 6 drug drug NN cord-014712-5u4e00q6 1500 7 reactions reaction NNS cord-014712-5u4e00q6 1500 8 ( ( -LRB- cord-014712-5u4e00q6 1500 9 ADRs adr NNS cord-014712-5u4e00q6 1500 10 ) ) -RRB- cord-014712-5u4e00q6 1500 11 was be VBD cord-014712-5u4e00q6 1500 12 0.055 0.055 CD cord-014712-5u4e00q6 1500 13 / / SYM cord-014712-5u4e00q6 1500 14 infusion infusion NN cord-014712-5u4e00q6 1500 15 and and CC cord-014712-5u4e00q6 1500 16 all all DT cord-014712-5u4e00q6 1500 17 were be VBD cord-014712-5u4e00q6 1500 18 mild mild JJ cord-014712-5u4e00q6 1500 19 in in IN cord-014712-5u4e00q6 1500 20 severity severity NN cord-014712-5u4e00q6 1500 21 ; ; : cord-014712-5u4e00q6 1500 22 no no DT cord-014712-5u4e00q6 1500 23 severe severe JJ cord-014712-5u4e00q6 1500 24 systemic systemic JJ cord-014712-5u4e00q6 1500 25 ADRs adr NNS cord-014712-5u4e00q6 1500 26 were be VBD cord-014712-5u4e00q6 1500 27 reported report VBN cord-014712-5u4e00q6 1500 28 with with IN cord-014712-5u4e00q6 1500 29 IGSC IGSC NNP cord-014712-5u4e00q6 1500 30 20 20 CD cord-014712-5u4e00q6 1500 31 % % NN cord-014712-5u4e00q6 1500 32 . . . cord-014712-5u4e00q6 1501 1 Of of IN cord-014712-5u4e00q6 1501 2 1812 1812 CD cord-014712-5u4e00q6 1501 3 IGSC IGSC NNP cord-014712-5u4e00q6 1501 4 20 20 CD cord-014712-5u4e00q6 1501 5 % % NN cord-014712-5u4e00q6 1501 6 infusions infusion NNS cord-014712-5u4e00q6 1501 7 , , , cord-014712-5u4e00q6 1501 8 only only RB cord-014712-5u4e00q6 1501 9 0.4 0.4 CD cord-014712-5u4e00q6 1501 10 % % NN cord-014712-5u4e00q6 1501 11 required require VBN cord-014712-5u4e00q6 1501 12 slowing slow VBG cord-014712-5u4e00q6 1501 13 or or CC cord-014712-5u4e00q6 1501 14 interrupting interrupt VBG cord-014712-5u4e00q6 1501 15 the the DT cord-014712-5u4e00q6 1501 16 administration administration NN cord-014712-5u4e00q6 1501 17 rate rate NN cord-014712-5u4e00q6 1501 18 . . . cord-014712-5u4e00q6 1502 1 Mean mean JJ cord-014712-5u4e00q6 1502 2 serum serum NN cord-014712-5u4e00q6 1502 3 IgG igg NN cord-014712-5u4e00q6 1502 4 trough trough NN cord-014712-5u4e00q6 1502 5 levels level NNS cord-014712-5u4e00q6 1502 6 were be VBD cord-014712-5u4e00q6 1502 7 9.2 9.2 CD cord-014712-5u4e00q6 1502 8 g g NN cord-014712-5u4e00q6 1502 9 / / SYM cord-014712-5u4e00q6 1502 10 L L NNP cord-014712-5u4e00q6 1502 11 ( ( -LRB- cord-014712-5u4e00q6 1502 12 IGSC IGSC NNP cord-014712-5u4e00q6 1502 13 20 20 CD cord-014712-5u4e00q6 1502 14 % % NN cord-014712-5u4e00q6 1502 15 , , , cord-014712-5u4e00q6 1502 16 n n NN cord-014712-5u4e00q6 1502 17 = = SYM cord-014712-5u4e00q6 1502 18 46 46 CD cord-014712-5u4e00q6 1502 19 ) ) -RRB- cord-014712-5u4e00q6 1502 20 , , , cord-014712-5u4e00q6 1502 21 9.1 9.1 CD cord-014712-5u4e00q6 1502 22 g g NN cord-014712-5u4e00q6 1502 23 / / SYM cord-014712-5u4e00q6 1502 24 L l NN cord-014712-5u4e00q6 1502 25 ( ( -LRB- cord-014712-5u4e00q6 1502 26 IGIV IGIV NNP cord-014712-5u4e00q6 1502 27 3-week 3-week CD cord-014712-5u4e00q6 1502 28 interval interval NN cord-014712-5u4e00q6 1502 29 , , , cord-014712-5u4e00q6 1502 30 n n NN cord-014712-5u4e00q6 1502 31 = = SYM cord-014712-5u4e00q6 1502 32 4 4 CD cord-014712-5u4e00q6 1502 33 ) ) -RRB- cord-014712-5u4e00q6 1502 34 and and CC cord-014712-5u4e00q6 1502 35 7.7 7.7 CD cord-014712-5u4e00q6 1502 36 g g NN cord-014712-5u4e00q6 1502 37 / / SYM cord-014712-5u4e00q6 1502 38 L L NNP cord-014712-5u4e00q6 1502 39 ( ( -LRB- cord-014712-5u4e00q6 1502 40 IVIG IVIG NNP cord-014712-5u4e00q6 1502 41 4-week 4-week NNP cord-014712-5u4e00q6 1502 42 interval interval NN cord-014712-5u4e00q6 1502 43 , , , cord-014712-5u4e00q6 1502 44 n n NN cord-014712-5u4e00q6 1502 45 = = SYM cord-014712-5u4e00q6 1502 46 25 25 CD cord-014712-5u4e00q6 1502 47 ) ) -RRB- cord-014712-5u4e00q6 1502 48 . . . cord-014712-5u4e00q6 1503 1 Conclusion conclusion NN cord-014712-5u4e00q6 1503 2 : : : cord-014712-5u4e00q6 1503 3 IGSC IGSC NNP cord-014712-5u4e00q6 1503 4 20 20 CD cord-014712-5u4e00q6 1503 5 % % NN cord-014712-5u4e00q6 1503 6 provided provide VBD cord-014712-5u4e00q6 1503 7 an an DT cord-014712-5u4e00q6 1503 8 effective effective JJ cord-014712-5u4e00q6 1503 9 and and CC cord-014712-5u4e00q6 1503 10 well well RB cord-014712-5u4e00q6 1503 11 - - HYPH cord-014712-5u4e00q6 1503 12 tolerated tolerate VBN cord-014712-5u4e00q6 1503 13 therapy therapy NN cord-014712-5u4e00q6 1503 14 , , , cord-014712-5u4e00q6 1503 15 with with IN cord-014712-5u4e00q6 1503 16 no no DT cord-014712-5u4e00q6 1503 17 dose dose NN cord-014712-5u4e00q6 1503 18 adjustments adjustment NNS cord-014712-5u4e00q6 1503 19 needed need VBN cord-014712-5u4e00q6 1503 20 from from IN cord-014712-5u4e00q6 1503 21 pre pre JJ cord-014712-5u4e00q6 1503 22 - - JJ cord-014712-5u4e00q6 1503 23 study study JJ cord-014712-5u4e00q6 1503 24 IG IG NNP cord-014712-5u4e00q6 1503 25 dose dose NN cord-014712-5u4e00q6 1503 26 . . . cord-014712-5u4e00q6 1504 1 This this DT cord-014712-5u4e00q6 1504 2 study study NN cord-014712-5u4e00q6 1504 3 is be VBZ cord-014712-5u4e00q6 1504 4 ongoing ongoing JJ cord-014712-5u4e00q6 1504 5 to to TO cord-014712-5u4e00q6 1504 6 confirm confirm VB cord-014712-5u4e00q6 1504 7 results result NNS cord-014712-5u4e00q6 1504 8 over over IN cord-014712-5u4e00q6 1504 9 12 12 CD cord-014712-5u4e00q6 1504 10 months month NNS cord-014712-5u4e00q6 1504 11 . . . cord-014712-5u4e00q6 1505 1 It -PRON- PRP cord-014712-5u4e00q6 1505 2 is be VBZ cord-014712-5u4e00q6 1505 3 well well RB cord-014712-5u4e00q6 1505 4 known known JJ cord-014712-5u4e00q6 1505 5 , , , cord-014712-5u4e00q6 1505 6 that that IN cord-014712-5u4e00q6 1505 7 intravenous intravenous JJ cord-014712-5u4e00q6 1505 8 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1505 9 ( ( -LRB- cord-014712-5u4e00q6 1505 10 IVIG IVIG NNP cord-014712-5u4e00q6 1505 11 ) ) -RRB- cord-014712-5u4e00q6 1505 12 is be VBZ cord-014712-5u4e00q6 1505 13 the the DT cord-014712-5u4e00q6 1505 14 main main JJ cord-014712-5u4e00q6 1505 15 therapeutic therapeutic JJ cord-014712-5u4e00q6 1505 16 modality modality NN cord-014712-5u4e00q6 1505 17 in in IN cord-014712-5u4e00q6 1505 18 B b NN cord-014712-5u4e00q6 1505 19 - - HYPH cord-014712-5u4e00q6 1505 20 cell cell NN cord-014712-5u4e00q6 1505 21 primary primary JJ cord-014712-5u4e00q6 1505 22 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 1505 23 ( ( -LRB- cord-014712-5u4e00q6 1505 24 PID PID NNP cord-014712-5u4e00q6 1505 25 ) ) -RRB- cord-014712-5u4e00q6 1505 26 , , , cord-014712-5u4e00q6 1505 27 it -PRON- PRP cord-014712-5u4e00q6 1505 28 decreases decrease VBZ cord-014712-5u4e00q6 1505 29 mortality mortality NN cord-014712-5u4e00q6 1505 30 and and CC cord-014712-5u4e00q6 1505 31 morbidity morbidity NN cord-014712-5u4e00q6 1505 32 in in IN cord-014712-5u4e00q6 1505 33 these these DT cord-014712-5u4e00q6 1505 34 patients patient NNS cord-014712-5u4e00q6 1505 35 dramatically dramatically RB cord-014712-5u4e00q6 1505 36 . . . cord-014712-5u4e00q6 1506 1 Yet yet CC cord-014712-5u4e00q6 1506 2 , , , cord-014712-5u4e00q6 1506 3 it -PRON- PRP cord-014712-5u4e00q6 1506 4 is be VBZ cord-014712-5u4e00q6 1506 5 also also RB cord-014712-5u4e00q6 1506 6 well well RB cord-014712-5u4e00q6 1506 7 known know VBN cord-014712-5u4e00q6 1506 8 that that IN cord-014712-5u4e00q6 1506 9 all all DT cord-014712-5u4e00q6 1506 10 IVIG IVIG NNP cord-014712-5u4e00q6 1506 11 products product NNS cord-014712-5u4e00q6 1506 12 are be VBP cord-014712-5u4e00q6 1506 13 very very RB cord-014712-5u4e00q6 1506 14 expensive expensive JJ cord-014712-5u4e00q6 1506 15 , , , cord-014712-5u4e00q6 1506 16 especially especially RB cord-014712-5u4e00q6 1506 17 considering consider VBG cord-014712-5u4e00q6 1506 18 life life NN cord-014712-5u4e00q6 1506 19 - - HYPH cord-014712-5u4e00q6 1506 20 time time NN cord-014712-5u4e00q6 1506 21 use use NN cord-014712-5u4e00q6 1506 22 and and CC cord-014712-5u4e00q6 1506 23 almost almost RB cord-014712-5u4e00q6 1506 24 normal normal JJ cord-014712-5u4e00q6 1506 25 life life NN cord-014712-5u4e00q6 1506 26 expectancy expectancy NN cord-014712-5u4e00q6 1506 27 in in IN cord-014712-5u4e00q6 1506 28 these these DT cord-014712-5u4e00q6 1506 29 patients patient NNS cord-014712-5u4e00q6 1506 30 , , , cord-014712-5u4e00q6 1506 31 if if IN cord-014712-5u4e00q6 1506 32 treated treat VBN cord-014712-5u4e00q6 1506 33 correctly correctly RB cord-014712-5u4e00q6 1506 34 . . . cord-014712-5u4e00q6 1507 1 Irregular irregular JJ cord-014712-5u4e00q6 1507 2 treatment treatment NN cord-014712-5u4e00q6 1507 3 and and CC cord-014712-5u4e00q6 1507 4 problems problem NNS cord-014712-5u4e00q6 1507 5 with with IN cord-014712-5u4e00q6 1507 6 insurance insurance NN cord-014712-5u4e00q6 1507 7 / / SYM cord-014712-5u4e00q6 1507 8 state state NN cord-014712-5u4e00q6 1507 9 coverage coverage NN cord-014712-5u4e00q6 1507 10 of of IN cord-014712-5u4e00q6 1507 11 IVIG IVIG NNP cord-014712-5u4e00q6 1507 12 in in IN cord-014712-5u4e00q6 1507 13 some some DT cord-014712-5u4e00q6 1507 14 countries country NNS cord-014712-5u4e00q6 1507 15 stems stem VBZ cord-014712-5u4e00q6 1507 16 from from IN cord-014712-5u4e00q6 1507 17 this this DT cord-014712-5u4e00q6 1507 18 . . . cord-014712-5u4e00q6 1508 1 GOAL GOAL NNP cord-014712-5u4e00q6 1508 2 : : : cord-014712-5u4e00q6 1509 1 The the DT cord-014712-5u4e00q6 1509 2 goal goal NN cord-014712-5u4e00q6 1509 3 of of IN cord-014712-5u4e00q6 1509 4 our -PRON- PRP$ cord-014712-5u4e00q6 1509 5 study study NN cord-014712-5u4e00q6 1509 6 was be VBD cord-014712-5u4e00q6 1509 7 to to TO cord-014712-5u4e00q6 1509 8 compare compare VB cord-014712-5u4e00q6 1509 9 medical medical JJ cord-014712-5u4e00q6 1509 10 and and CC cord-014712-5u4e00q6 1509 11 other other JJ cord-014712-5u4e00q6 1509 12 costs cost NNS cord-014712-5u4e00q6 1509 13 , , , cord-014712-5u4e00q6 1509 14 related relate VBN cord-014712-5u4e00q6 1509 15 to to IN cord-014712-5u4e00q6 1509 16 the the DT cord-014712-5u4e00q6 1509 17 disease disease NN cord-014712-5u4e00q6 1509 18 in in IN cord-014712-5u4e00q6 1509 19 patients patient NNS cord-014712-5u4e00q6 1509 20 with with IN cord-014712-5u4e00q6 1509 21 humoral humoral JJ cord-014712-5u4e00q6 1509 22 PIDs pid NNS cord-014712-5u4e00q6 1509 23 with with IN cord-014712-5u4e00q6 1509 24 or or CC cord-014712-5u4e00q6 1509 25 without without IN cord-014712-5u4e00q6 1509 26 IVIG IVIG NNP cord-014712-5u4e00q6 1509 27 treatment treatment NN cord-014712-5u4e00q6 1509 28 . . . cord-014712-5u4e00q6 1510 1 Patients patient NNS cord-014712-5u4e00q6 1510 2 : : : cord-014712-5u4e00q6 1510 3 21 21 CD cord-014712-5u4e00q6 1510 4 patient patient NN cord-014712-5u4e00q6 1510 5 with with IN cord-014712-5u4e00q6 1510 6 B b NN cord-014712-5u4e00q6 1510 7 - - HYPH cord-014712-5u4e00q6 1510 8 cell cell NN cord-014712-5u4e00q6 1510 9 deficiencies deficiency NNS cord-014712-5u4e00q6 1510 10 ( ( -LRB- cord-014712-5u4e00q6 1510 11 73 73 CD cord-014712-5u4e00q6 1510 12 % % NN cord-014712-5u4e00q6 1510 13 X x NN cord-014712-5u4e00q6 1510 14 - - HYPH cord-014712-5u4e00q6 1510 15 linked link VBN cord-014712-5u4e00q6 1510 16 agammaglobulinemia agammaglobulinemia NN cord-014712-5u4e00q6 1510 17 , , , cord-014712-5u4e00q6 1510 18 all all DT cord-014712-5u4e00q6 1510 19 genetically genetically RB cord-014712-5u4e00q6 1510 20 confirmed confirm VBN cord-014712-5u4e00q6 1510 21 , , , cord-014712-5u4e00q6 1510 22 27 27 CD cord-014712-5u4e00q6 1510 23 % % NN cord-014712-5u4e00q6 1510 24 common common JJ cord-014712-5u4e00q6 1510 25 variable variable JJ cord-014712-5u4e00q6 1510 26 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1510 27 ) ) -RRB- cord-014712-5u4e00q6 1510 28 . . . cord-014712-5u4e00q6 1511 1 The the DT cord-014712-5u4e00q6 1511 2 age age NN cord-014712-5u4e00q6 1511 3 of of IN cord-014712-5u4e00q6 1511 4 patients patient NNS cord-014712-5u4e00q6 1511 5 varied varied JJ cord-014712-5u4e00q6 1511 6 from from IN cord-014712-5u4e00q6 1511 7 2 2 CD cord-014712-5u4e00q6 1511 8 to to IN cord-014712-5u4e00q6 1511 9 16 16 CD cord-014712-5u4e00q6 1511 10 years year NNS cord-014712-5u4e00q6 1511 11 . . . cord-014712-5u4e00q6 1512 1 Methods method NNS cord-014712-5u4e00q6 1512 2 : : : cord-014712-5u4e00q6 1513 1 We -PRON- PRP cord-014712-5u4e00q6 1513 2 analyzed analyze VBD cord-014712-5u4e00q6 1513 3 medical medical JJ cord-014712-5u4e00q6 1513 4 and and CC cord-014712-5u4e00q6 1513 5 other other JJ cord-014712-5u4e00q6 1513 6 disease disease NN cord-014712-5u4e00q6 1513 7 - - HYPH cord-014712-5u4e00q6 1513 8 related relate VBN cord-014712-5u4e00q6 1513 9 costs cost NNS cord-014712-5u4e00q6 1513 10 during during IN cord-014712-5u4e00q6 1513 11 2 2 CD cord-014712-5u4e00q6 1513 12 years year NNS cord-014712-5u4e00q6 1513 13 preceding precede VBG cord-014712-5u4e00q6 1513 14 the the DT cord-014712-5u4e00q6 1513 15 diagnosis diagnosis NN cord-014712-5u4e00q6 1513 16 ( ( -LRB- cord-014712-5u4e00q6 1513 17 without without IN cord-014712-5u4e00q6 1513 18 IVIG IVIG NNP cord-014712-5u4e00q6 1513 19 therapy therapy NN cord-014712-5u4e00q6 1513 20 ) ) -RRB- cord-014712-5u4e00q6 1513 21 retrospectively retrospectively RB cord-014712-5u4e00q6 1513 22 and and CC cord-014712-5u4e00q6 1513 23 during during IN cord-014712-5u4e00q6 1513 24 2 2 CD cord-014712-5u4e00q6 1513 25 years year NNS cord-014712-5u4e00q6 1513 26 on on IN cord-014712-5u4e00q6 1513 27 regular regular JJ cord-014712-5u4e00q6 1513 28 IVIG IVIG NNP cord-014712-5u4e00q6 1513 29 therapy therapy NN cord-014712-5u4e00q6 1513 30 . . . cord-014712-5u4e00q6 1514 1 The the DT cord-014712-5u4e00q6 1514 2 costs cost NNS cord-014712-5u4e00q6 1514 3 included include VBD cord-014712-5u4e00q6 1514 4 those those DT cord-014712-5u4e00q6 1514 5 incurred incur VBN cord-014712-5u4e00q6 1514 6 by by IN cord-014712-5u4e00q6 1514 7 the the DT cord-014712-5u4e00q6 1514 8 state state NN cord-014712-5u4e00q6 1514 9 ( ( -LRB- cord-014712-5u4e00q6 1514 10 hospitalization hospitalization NN cord-014712-5u4e00q6 1514 11 , , , cord-014712-5u4e00q6 1514 12 home home NN cord-014712-5u4e00q6 1514 13 visits visit NNS cord-014712-5u4e00q6 1514 14 , , , cord-014712-5u4e00q6 1514 15 emergency emergency NN cord-014712-5u4e00q6 1514 16 calls call NNS cord-014712-5u4e00q6 1514 17 ) ) -RRB- cord-014712-5u4e00q6 1514 18 and and CC cord-014712-5u4e00q6 1514 19 by by IN cord-014712-5u4e00q6 1514 20 the the DT cord-014712-5u4e00q6 1514 21 parents parent NNS cord-014712-5u4e00q6 1514 22 ( ( -LRB- cord-014712-5u4e00q6 1514 23 costs cost NNS cord-014712-5u4e00q6 1514 24 of of IN cord-014712-5u4e00q6 1514 25 drugs drug NNS cord-014712-5u4e00q6 1514 26 , , , cord-014712-5u4e00q6 1514 27 private private JJ cord-014712-5u4e00q6 1514 28 consults consult NNS cord-014712-5u4e00q6 1514 29 , , , cord-014712-5u4e00q6 1514 30 etc etc FW cord-014712-5u4e00q6 1514 31 ) ) -RRB- cord-014712-5u4e00q6 1514 32 . . . cord-014712-5u4e00q6 1515 1 The the DT cord-014712-5u4e00q6 1515 2 state state NN cord-014712-5u4e00q6 1515 3 costs cost NNS cord-014712-5u4e00q6 1515 4 caused cause VBN cord-014712-5u4e00q6 1515 5 by by IN cord-014712-5u4e00q6 1515 6 parents parent NNS cord-014712-5u4e00q6 1515 7 missing miss VBG cord-014712-5u4e00q6 1515 8 work work NN cord-014712-5u4e00q6 1515 9 were be VBD cord-014712-5u4e00q6 1515 10 also also RB cord-014712-5u4e00q6 1515 11 considered consider VBN cord-014712-5u4e00q6 1515 12 . . . cord-014712-5u4e00q6 1516 1 For for IN cord-014712-5u4e00q6 1516 2 standardization standardization NN cord-014712-5u4e00q6 1516 3 purpose purpose NN cord-014712-5u4e00q6 1516 4 for for IN cord-014712-5u4e00q6 1516 5 calculation calculation NN cord-014712-5u4e00q6 1516 6 we -PRON- PRP cord-014712-5u4e00q6 1516 7 used use VBD cord-014712-5u4e00q6 1516 8 the the DT cord-014712-5u4e00q6 1516 9 prices price NNS cord-014712-5u4e00q6 1516 10 for for IN cord-014712-5u4e00q6 1516 11 the the DT cord-014712-5u4e00q6 1516 12 end end NN cord-014712-5u4e00q6 1516 13 of of IN cord-014712-5u4e00q6 1516 14 2013 2013 CD cord-014712-5u4e00q6 1516 15 . . . cord-014712-5u4e00q6 1517 1 Results result NNS cord-014712-5u4e00q6 1517 2 : : : cord-014712-5u4e00q6 1518 1 The the DT cord-014712-5u4e00q6 1518 2 patients patient NNS cord-014712-5u4e00q6 1518 3 analyzed analyze VBD cord-014712-5u4e00q6 1518 4 fell fall VBD cord-014712-5u4e00q6 1518 5 into into IN cord-014712-5u4e00q6 1518 6 3 3 CD cord-014712-5u4e00q6 1518 7 different different JJ cord-014712-5u4e00q6 1518 8 categories category NNS cord-014712-5u4e00q6 1518 9 : : : cord-014712-5u4e00q6 1518 10 1 1 CD cord-014712-5u4e00q6 1518 11 . . . cord-014712-5u4e00q6 1519 1 The the DT cord-014712-5u4e00q6 1519 2 1st 1st JJ cord-014712-5u4e00q6 1519 3 group group NN cord-014712-5u4e00q6 1519 4 -(76 -(76 NNP cord-014712-5u4e00q6 1519 5 % % NN cord-014712-5u4e00q6 1519 6 of of IN cord-014712-5u4e00q6 1519 7 patients patient NNS cord-014712-5u4e00q6 1519 8 studied study VBN cord-014712-5u4e00q6 1519 9 ) ) -RRB- cord-014712-5u4e00q6 1520 1 -patients -patient NNS cord-014712-5u4e00q6 1521 1 with with IN cord-014712-5u4e00q6 1521 2 several several JJ cord-014712-5u4e00q6 1521 3 severe severe JJ cord-014712-5u4e00q6 1521 4 infections infection NNS cord-014712-5u4e00q6 1521 5 before before IN cord-014712-5u4e00q6 1521 6 therapy therapy NN cord-014712-5u4e00q6 1521 7 , , , cord-014712-5u4e00q6 1521 8 some some DT cord-014712-5u4e00q6 1521 9 chronic chronic JJ cord-014712-5u4e00q6 1521 10 conditions condition NNS cord-014712-5u4e00q6 1521 11 as as IN cord-014712-5u4e00q6 1521 12 a a DT cord-014712-5u4e00q6 1521 13 result result NN cord-014712-5u4e00q6 1521 14 of of IN cord-014712-5u4e00q6 1521 15 those those DT cord-014712-5u4e00q6 1521 16 . . . cord-014712-5u4e00q6 1522 1 Age age NN cord-014712-5u4e00q6 1522 2 of of IN cord-014712-5u4e00q6 1522 3 diagnosis diagnosis NN cord-014712-5u4e00q6 1522 4 varied varied JJ cord-014712-5u4e00q6 1522 5 from from IN cord-014712-5u4e00q6 1522 6 2 2 CD cord-014712-5u4e00q6 1522 7 years year NNS cord-014712-5u4e00q6 1522 8 to to IN cord-014712-5u4e00q6 1522 9 16 16 CD cord-014712-5u4e00q6 1522 10 years year NNS cord-014712-5u4e00q6 1522 11 ( ( -LRB- cord-014712-5u4e00q6 1522 12 with with IN cord-014712-5u4e00q6 1522 13 average average JJ cord-014712-5u4e00q6 1522 14 time time NN cord-014712-5u4e00q6 1522 15 to to IN cord-014712-5u4e00q6 1522 16 diagnosis diagnosis NN cord-014712-5u4e00q6 1522 17 5 5 CD cord-014712-5u4e00q6 1522 18 years year NNS cord-014712-5u4e00q6 1522 19 ) ) -RRB- cord-014712-5u4e00q6 1522 20 . . . cord-014712-5u4e00q6 1523 1 In in IN cord-014712-5u4e00q6 1523 2 this this DT cord-014712-5u4e00q6 1523 3 group group NN cord-014712-5u4e00q6 1523 4 costs cost NNS cord-014712-5u4e00q6 1523 5 of of IN cord-014712-5u4e00q6 1523 6 IVIG IVIG NNP cord-014712-5u4e00q6 1523 7 treatment treatment NN cord-014712-5u4e00q6 1523 8 were be VBD cord-014712-5u4e00q6 1523 9 2,5 2,5 CD cord-014712-5u4e00q6 1523 10 times time NNS cord-014712-5u4e00q6 1523 11 higher high JJR cord-014712-5u4e00q6 1523 12 than than IN cord-014712-5u4e00q6 1523 13 before before IN cord-014712-5u4e00q6 1523 14 the the DT cord-014712-5u4e00q6 1523 15 diagnosis diagnosis NN cord-014712-5u4e00q6 1523 16 ( ( -LRB- cord-014712-5u4e00q6 1523 17 Fig Fig NNP cord-014712-5u4e00q6 1523 18 . . . cord-014712-5u4e00q6 1523 19 1 1 CD cord-014712-5u4e00q6 1523 20 ) ) -RRB- cord-014712-5u4e00q6 1523 21 . . . cord-014712-5u4e00q6 1524 1 2 2 CD cord-014712-5u4e00q6 1524 2 nd nd NNP cord-014712-5u4e00q6 1524 3 group(10 group(10 NNP cord-014712-5u4e00q6 1524 4 % % NN cord-014712-5u4e00q6 1524 5 of of IN cord-014712-5u4e00q6 1524 6 all all DT cord-014712-5u4e00q6 1524 7 ) ) -RRB- cord-014712-5u4e00q6 1524 8 . . . cord-014712-5u4e00q6 1525 1 Patients patient NNS cord-014712-5u4e00q6 1525 2 with with IN cord-014712-5u4e00q6 1525 3 late late JJ cord-014712-5u4e00q6 1525 4 diagnosis diagnosis NN cord-014712-5u4e00q6 1525 5 ( ( -LRB- cord-014712-5u4e00q6 1525 6 average average JJ cord-014712-5u4e00q6 1525 7 time time NN cord-014712-5u4e00q6 1525 8 to to IN cord-014712-5u4e00q6 1525 9 diagnosis diagnosis NN cord-014712-5u4e00q6 1525 10 7 7 CD cord-014712-5u4e00q6 1525 11 years year NNS cord-014712-5u4e00q6 1525 12 ) ) -RRB- cord-014712-5u4e00q6 1525 13 , , , cord-014712-5u4e00q6 1525 14 who who WP cord-014712-5u4e00q6 1525 15 had have VBD cord-014712-5u4e00q6 1525 16 multiple multiple JJ cord-014712-5u4e00q6 1525 17 severe severe JJ cord-014712-5u4e00q6 1525 18 infections infection NNS cord-014712-5u4e00q6 1525 19 before before IN cord-014712-5u4e00q6 1525 20 the the DT cord-014712-5u4e00q6 1525 21 IVIG IVIG NNP cord-014712-5u4e00q6 1525 22 treatment treatment NN cord-014712-5u4e00q6 1525 23 and and CC cord-014712-5u4e00q6 1525 24 acquired acquire VBD cord-014712-5u4e00q6 1525 25 serious serious JJ cord-014712-5u4e00q6 1525 26 chronic chronic JJ cord-014712-5u4e00q6 1525 27 lung lung NN cord-014712-5u4e00q6 1525 28 complications complication NNS cord-014712-5u4e00q6 1525 29 due due JJ cord-014712-5u4e00q6 1525 30 to to IN cord-014712-5u4e00q6 1525 31 it -PRON- PRP cord-014712-5u4e00q6 1525 32 . . . cord-014712-5u4e00q6 1526 1 In in IN cord-014712-5u4e00q6 1526 2 this this DT cord-014712-5u4e00q6 1526 3 group group NN cord-014712-5u4e00q6 1526 4 the the DT cord-014712-5u4e00q6 1526 5 costs cost NNS cord-014712-5u4e00q6 1526 6 before before IN cord-014712-5u4e00q6 1526 7 the the DT cord-014712-5u4e00q6 1526 8 treatment treatment NN cord-014712-5u4e00q6 1526 9 were be VBD cord-014712-5u4e00q6 1526 10 higher high JJR cord-014712-5u4e00q6 1526 11 , , , cord-014712-5u4e00q6 1526 12 than than IN cord-014712-5u4e00q6 1526 13 on on IN cord-014712-5u4e00q6 1526 14 IVIG IVIG NNP cord-014712-5u4e00q6 1526 15 treatment treatment NN cord-014712-5u4e00q6 1526 16 . . . cord-014712-5u4e00q6 1527 1 3 3 LS cord-014712-5u4e00q6 1527 2 . . . cord-014712-5u4e00q6 1528 1 Very very RB cord-014712-5u4e00q6 1528 2 early early JJ cord-014712-5u4e00q6 1528 3 diagnosis diagnosis NN cord-014712-5u4e00q6 1529 1 -within -within . cord-014712-5u4e00q6 1530 1 the the DT cord-014712-5u4e00q6 1530 2 first first JJ cord-014712-5u4e00q6 1530 3 year year NN cord-014712-5u4e00q6 1530 4 of of IN cord-014712-5u4e00q6 1530 5 life life NN cord-014712-5u4e00q6 1530 6 ( ( -LRB- cord-014712-5u4e00q6 1530 7 mostly mostly RB cord-014712-5u4e00q6 1530 8 because because IN cord-014712-5u4e00q6 1530 9 of of IN cord-014712-5u4e00q6 1530 10 preceding precede VBG cord-014712-5u4e00q6 1530 11 family family NN cord-014712-5u4e00q6 1530 12 history history NN cord-014712-5u4e00q6 1530 13 ) ) -RRB- cord-014712-5u4e00q6 1530 14 ( ( -LRB- cord-014712-5u4e00q6 1530 15 14 14 CD cord-014712-5u4e00q6 1530 16 % % NN cord-014712-5u4e00q6 1530 17 ) ) -RRB- cord-014712-5u4e00q6 1530 18 . . . cord-014712-5u4e00q6 1531 1 The the DT cord-014712-5u4e00q6 1531 2 comparative comparative JJ cord-014712-5u4e00q6 1531 3 analysis analysis NN cord-014712-5u4e00q6 1531 4 was be VBD cord-014712-5u4e00q6 1531 5 not not RB cord-014712-5u4e00q6 1531 6 possible possible JJ cord-014712-5u4e00q6 1531 7 , , , cord-014712-5u4e00q6 1531 8 but but CC cord-014712-5u4e00q6 1531 9 it -PRON- PRP cord-014712-5u4e00q6 1531 10 was be VBD cord-014712-5u4e00q6 1531 11 noted note VBN cord-014712-5u4e00q6 1531 12 that that IN cord-014712-5u4e00q6 1531 13 these these DT cord-014712-5u4e00q6 1531 14 patients patient NNS cord-014712-5u4e00q6 1531 15 had have VBD cord-014712-5u4e00q6 1531 16 no no DT cord-014712-5u4e00q6 1531 17 history history NN cord-014712-5u4e00q6 1531 18 of of IN cord-014712-5u4e00q6 1531 19 serious serious JJ cord-014712-5u4e00q6 1531 20 infections infection NNS cord-014712-5u4e00q6 1531 21 before before RB cord-014712-5u4e00q6 1531 22 of of IN cord-014712-5u4e00q6 1531 23 while while NN cord-014712-5u4e00q6 1531 24 on on IN cord-014712-5u4e00q6 1531 25 IVIG IVIG NNP cord-014712-5u4e00q6 1531 26 therapy therapy NN cord-014712-5u4e00q6 1531 27 . . . cord-014712-5u4e00q6 1532 1 The the DT cord-014712-5u4e00q6 1532 2 only only JJ cord-014712-5u4e00q6 1532 3 additional additional JJ cord-014712-5u4e00q6 1532 4 costs cost NNS cord-014712-5u4e00q6 1532 5 , , , cord-014712-5u4e00q6 1532 6 besides besides IN cord-014712-5u4e00q6 1532 7 IVIG IVIG NNP cord-014712-5u4e00q6 1532 8 , , , cord-014712-5u4e00q6 1532 9 were be VBD cord-014712-5u4e00q6 1532 10 related relate VBN cord-014712-5u4e00q6 1532 11 to to IN cord-014712-5u4e00q6 1532 12 bad bad JJ cord-014712-5u4e00q6 1532 13 venous venous JJ cord-014712-5u4e00q6 1532 14 access access NN cord-014712-5u4e00q6 1532 15 , , , cord-014712-5u4e00q6 1532 16 requiring require VBG cord-014712-5u4e00q6 1532 17 occasionally occasionally RB cord-014712-5u4e00q6 1532 18 1 1 CD cord-014712-5u4e00q6 1532 19 day day NN cord-014712-5u4e00q6 1532 20 in in IN cord-014712-5u4e00q6 1532 21 - - HYPH cord-014712-5u4e00q6 1532 22 patient patient NN cord-014712-5u4e00q6 1532 23 hospitalization hospitalization NN cord-014712-5u4e00q6 1532 24 for for IN cord-014712-5u4e00q6 1532 25 IVIG IVIG NNP cord-014712-5u4e00q6 1532 26 infusion infusion NN cord-014712-5u4e00q6 1532 27 . . . cord-014712-5u4e00q6 1533 1 As as IN cord-014712-5u4e00q6 1533 2 expected expect VBN cord-014712-5u4e00q6 1533 3 , , , cord-014712-5u4e00q6 1533 4 in in IN cord-014712-5u4e00q6 1533 5 all all DT cord-014712-5u4e00q6 1533 6 3 3 CD cord-014712-5u4e00q6 1533 7 groups group NNS cord-014712-5u4e00q6 1533 8 , , , cord-014712-5u4e00q6 1533 9 the the DT cord-014712-5u4e00q6 1533 10 number number NN cord-014712-5u4e00q6 1533 11 of of IN cord-014712-5u4e00q6 1533 12 infectious infectious JJ cord-014712-5u4e00q6 1533 13 episodes episode NNS cord-014712-5u4e00q6 1533 14 , , , cord-014712-5u4e00q6 1533 15 the the DT cord-014712-5u4e00q6 1533 16 number number NN cord-014712-5u4e00q6 1533 17 of of IN cord-014712-5u4e00q6 1533 18 hospitalizations hospitalization NNS cord-014712-5u4e00q6 1533 19 ( ( -LRB- cord-014712-5u4e00q6 1533 20 Fig Fig NNP cord-014712-5u4e00q6 1533 21 . . NNP cord-014712-5u4e00q6 1533 22 2 2 CD cord-014712-5u4e00q6 1533 23 ) ) -RRB- cord-014712-5u4e00q6 1533 24 and and CC cord-014712-5u4e00q6 1533 25 doctor doctor NN cord-014712-5u4e00q6 1533 26 visits visit NNS cord-014712-5u4e00q6 1533 27 ( ( -LRB- cord-014712-5u4e00q6 1533 28 Fig Fig NNP cord-014712-5u4e00q6 1533 29 . . . cord-014712-5u4e00q6 1533 30 3 3 CD cord-014712-5u4e00q6 1533 31 ) ) -RRB- cord-014712-5u4e00q6 1533 32 after after IN cord-014712-5u4e00q6 1533 33 beginning beginning NN cord-014712-5u4e00q6 1533 34 of of IN cord-014712-5u4e00q6 1533 35 regular regular JJ cord-014712-5u4e00q6 1533 36 IVIG IVIG NNP cord-014712-5u4e00q6 1533 37 treatment treatment NN cord-014712-5u4e00q6 1533 38 dropped drop VBD cord-014712-5u4e00q6 1533 39 dramatically dramatically RB cord-014712-5u4e00q6 1533 40 . . . cord-014712-5u4e00q6 1534 1 We -PRON- PRP cord-014712-5u4e00q6 1534 2 also also RB cord-014712-5u4e00q6 1534 3 followed follow VBD cord-014712-5u4e00q6 1534 4 2 2 CD cord-014712-5u4e00q6 1534 5 patients patient NNS cord-014712-5u4e00q6 1534 6 with with IN cord-014712-5u4e00q6 1534 7 XLA XLA NNP cord-014712-5u4e00q6 1534 8 , , , cord-014712-5u4e00q6 1534 9 who who WP cord-014712-5u4e00q6 1534 10 did do VBD cord-014712-5u4e00q6 1534 11 not not RB cord-014712-5u4e00q6 1534 12 receive receive VB cord-014712-5u4e00q6 1534 13 IVIG IVIG NNP cord-014712-5u4e00q6 1534 14 therapy therapy NN cord-014712-5u4e00q6 1534 15 because because IN cord-014712-5u4e00q6 1534 16 of of IN cord-014712-5u4e00q6 1534 17 social social JJ cord-014712-5u4e00q6 1534 18 aspects aspect NNS cord-014712-5u4e00q6 1534 19 . . . cord-014712-5u4e00q6 1535 1 Both both DT cord-014712-5u4e00q6 1535 2 patients patient NNS cord-014712-5u4e00q6 1535 3 died die VBD cord-014712-5u4e00q6 1535 4 from from IN cord-014712-5u4e00q6 1535 5 severe severe JJ cord-014712-5u4e00q6 1535 6 infections infection NNS cord-014712-5u4e00q6 1535 7 . . . cord-014712-5u4e00q6 1536 1 We -PRON- PRP cord-014712-5u4e00q6 1536 2 evaluated evaluate VBD cord-014712-5u4e00q6 1536 3 this this DT cord-014712-5u4e00q6 1536 4 fact fact NN cord-014712-5u4e00q6 1536 5 in in IN cord-014712-5u4e00q6 1536 6 economical economical JJ cord-014712-5u4e00q6 1536 7 prospective prospective NN cord-014712-5u4e00q6 1536 8 : : : cord-014712-5u4e00q6 1536 9 in in IN cord-014712-5u4e00q6 1536 10 Russia Russia NNP cord-014712-5u4e00q6 1536 11 one one CD cord-014712-5u4e00q6 1536 12 worker worker NN cord-014712-5u4e00q6 1536 13 , , , cord-014712-5u4e00q6 1536 14 who who WP cord-014712-5u4e00q6 1536 15 works work VBZ cord-014712-5u4e00q6 1536 16 continuously continuously RB cord-014712-5u4e00q6 1536 17 and and CC cord-014712-5u4e00q6 1536 18 retires retire VBZ cord-014712-5u4e00q6 1536 19 at at IN cord-014712-5u4e00q6 1536 20 60 60 CD cord-014712-5u4e00q6 1536 21 years year NNS cord-014712-5u4e00q6 1536 22 of of IN cord-014712-5u4e00q6 1536 23 age age NN cord-014712-5u4e00q6 1536 24 brings bring VBZ cord-014712-5u4e00q6 1536 25 about about RB cord-014712-5u4e00q6 1536 26 130 130 CD cord-014712-5u4e00q6 1536 27 mln mln CD cord-014712-5u4e00q6 1536 28 roubles rouble NNS cord-014712-5u4e00q6 1536 29 into into IN cord-014712-5u4e00q6 1536 30 the the DT cord-014712-5u4e00q6 1536 31 state state NN cord-014712-5u4e00q6 1536 32 budget budget NN cord-014712-5u4e00q6 1536 33 ( ( -LRB- cord-014712-5u4e00q6 1536 34 when when WRB cord-014712-5u4e00q6 1536 35 costs cost NNS cord-014712-5u4e00q6 1536 36 for for IN cord-014712-5u4e00q6 1536 37 schooling schooling NN cord-014712-5u4e00q6 1536 38 and and CC cord-014712-5u4e00q6 1536 39 routine routine JJ cord-014712-5u4e00q6 1536 40 medical medical JJ cord-014712-5u4e00q6 1536 41 care care NN cord-014712-5u4e00q6 1536 42 are be VBP cord-014712-5u4e00q6 1536 43 subtracted subtract VBN cord-014712-5u4e00q6 1536 44 ) ) -RRB- cord-014712-5u4e00q6 1536 45 . . . cord-014712-5u4e00q6 1537 1 If if IN cord-014712-5u4e00q6 1537 2 one one PRP cord-014712-5u4e00q6 1537 3 supposes suppose VBZ cord-014712-5u4e00q6 1537 4 that that IN cord-014712-5u4e00q6 1537 5 an an DT cord-014712-5u4e00q6 1537 6 XLA XLA NNP cord-014712-5u4e00q6 1537 7 patient patient NN cord-014712-5u4e00q6 1537 8 have have VBP cord-014712-5u4e00q6 1537 9 been be VBN cord-014712-5u4e00q6 1537 10 diagnosed diagnose VBN cord-014712-5u4e00q6 1537 11 very very RB cord-014712-5u4e00q6 1537 12 early early RB cord-014712-5u4e00q6 1537 13 in in IN cord-014712-5u4e00q6 1537 14 life life NN cord-014712-5u4e00q6 1537 15 , , , cord-014712-5u4e00q6 1537 16 did do VBD cord-014712-5u4e00q6 1537 17 not not RB cord-014712-5u4e00q6 1537 18 form form VB cord-014712-5u4e00q6 1537 19 complications complication NNS cord-014712-5u4e00q6 1537 20 prior prior RB cord-014712-5u4e00q6 1537 21 to to IN cord-014712-5u4e00q6 1537 22 therapy therapy NN cord-014712-5u4e00q6 1537 23 and and CC cord-014712-5u4e00q6 1537 24 was be VBD cord-014712-5u4e00q6 1537 25 on on IN cord-014712-5u4e00q6 1537 26 regular regular JJ cord-014712-5u4e00q6 1537 27 IVIG IVIG NNP cord-014712-5u4e00q6 1537 28 therapy therapy NN cord-014712-5u4e00q6 1537 29 for for IN cord-014712-5u4e00q6 1537 30 life life NN cord-014712-5u4e00q6 1537 31 , , , cord-014712-5u4e00q6 1537 32 this this DT cord-014712-5u4e00q6 1537 33 sum sum NN cord-014712-5u4e00q6 1537 34 equals equal VBZ cord-014712-5u4e00q6 1537 35 to to IN cord-014712-5u4e00q6 1537 36 160 160 CD cord-014712-5u4e00q6 1537 37 years year NNS cord-014712-5u4e00q6 1537 38 on on IN cord-014712-5u4e00q6 1537 39 IVIG IVIG NNP cord-014712-5u4e00q6 1537 40 . . . cord-014712-5u4e00q6 1538 1 Conclusions conclusion NNS cord-014712-5u4e00q6 1538 2 : : : cord-014712-5u4e00q6 1539 1 Regular regular JJ cord-014712-5u4e00q6 1539 2 IVIG IVIG NNP cord-014712-5u4e00q6 1539 3 therapy therapy NN cord-014712-5u4e00q6 1539 4 not not RB cord-014712-5u4e00q6 1539 5 only only RB cord-014712-5u4e00q6 1539 6 leads lead VBZ cord-014712-5u4e00q6 1539 7 to to IN cord-014712-5u4e00q6 1539 8 reduction reduction NN cord-014712-5u4e00q6 1539 9 of of IN cord-014712-5u4e00q6 1539 10 infectious infectious JJ cord-014712-5u4e00q6 1539 11 episodes episode NNS cord-014712-5u4e00q6 1539 12 , , , cord-014712-5u4e00q6 1539 13 hospitalizations hospitalization NNS cord-014712-5u4e00q6 1539 14 , , , cord-014712-5u4e00q6 1539 15 and and CC cord-014712-5u4e00q6 1539 16 as as IN cord-014712-5u4e00q6 1539 17 a a DT cord-014712-5u4e00q6 1539 18 result result NN cord-014712-5u4e00q6 1539 19 improved improve VBN cord-014712-5u4e00q6 1539 20 quality quality NN cord-014712-5u4e00q6 1539 21 of of IN cord-014712-5u4e00q6 1539 22 life life NN cord-014712-5u4e00q6 1539 23 . . . cord-014712-5u4e00q6 1540 1 In in IN cord-014712-5u4e00q6 1540 2 some some DT cord-014712-5u4e00q6 1540 3 cases case NNS cord-014712-5u4e00q6 1540 4 it -PRON- PRP cord-014712-5u4e00q6 1540 5 even even RB cord-014712-5u4e00q6 1540 6 brings bring VBZ cord-014712-5u4e00q6 1540 7 down down RP cord-014712-5u4e00q6 1540 8 the the DT cord-014712-5u4e00q6 1540 9 disease disease NN cord-014712-5u4e00q6 1540 10 - - HYPH cord-014712-5u4e00q6 1540 11 related relate VBN cord-014712-5u4e00q6 1540 12 costs cost NNS cord-014712-5u4e00q6 1540 13 , , , cord-014712-5u4e00q6 1540 14 incurred incur VBN cord-014712-5u4e00q6 1540 15 by by IN cord-014712-5u4e00q6 1540 16 the the DT cord-014712-5u4e00q6 1540 17 medical medical JJ cord-014712-5u4e00q6 1540 18 system system NN cord-014712-5u4e00q6 1540 19 and and CC cord-014712-5u4e00q6 1540 20 the the DT cord-014712-5u4e00q6 1540 21 family family NN cord-014712-5u4e00q6 1540 22 , , , cord-014712-5u4e00q6 1540 23 and and CC cord-014712-5u4e00q6 1540 24 is be VBZ cord-014712-5u4e00q6 1540 25 economically economically RB cord-014712-5u4e00q6 1540 26 advantageous advantageous JJ cord-014712-5u4e00q6 1540 27 for for IN cord-014712-5u4e00q6 1540 28 the the DT cord-014712-5u4e00q6 1540 29 state state NN cord-014712-5u4e00q6 1540 30 . . . cord-014712-5u4e00q6 1541 1 Introduction introduction NN cord-014712-5u4e00q6 1541 2 : : : cord-014712-5u4e00q6 1542 1 Replacement replacement NN cord-014712-5u4e00q6 1542 2 of of IN cord-014712-5u4e00q6 1542 3 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 1542 4 is be VBZ cord-014712-5u4e00q6 1542 5 a a DT cord-014712-5u4e00q6 1542 6 standard standard JJ cord-014712-5u4e00q6 1542 7 therapy therapy NN cord-014712-5u4e00q6 1542 8 for for IN cord-014712-5u4e00q6 1542 9 patients patient NNS cord-014712-5u4e00q6 1542 10 with with IN cord-014712-5u4e00q6 1542 11 primary primary JJ cord-014712-5u4e00q6 1542 12 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1542 13 disease disease NN cord-014712-5u4e00q6 1542 14 ( ( -LRB- cord-014712-5u4e00q6 1542 15 PIDD PIDD NNP cord-014712-5u4e00q6 1542 16 ) ) -RRB- cord-014712-5u4e00q6 1542 17 characterized characterize VBN cord-014712-5u4e00q6 1542 18 by by IN cord-014712-5u4e00q6 1542 19 primary primary JJ cord-014712-5u4e00q6 1542 20 antibody antibody NN cord-014712-5u4e00q6 1542 21 deficiency deficiency NN cord-014712-5u4e00q6 1542 22 ( ( -LRB- cord-014712-5u4e00q6 1542 23 PAD pad NN cord-014712-5u4e00q6 1542 24 ) ) -RRB- cord-014712-5u4e00q6 1542 25 . . . cord-014712-5u4e00q6 1543 1 This this DT cord-014712-5u4e00q6 1543 2 poster poster NN cord-014712-5u4e00q6 1543 3 represents represent VBZ cord-014712-5u4e00q6 1543 4 our -PRON- PRP$ cord-014712-5u4e00q6 1543 5 clinical clinical JJ cord-014712-5u4e00q6 1543 6 experiences experience NNS cord-014712-5u4e00q6 1543 7 of of IN cord-014712-5u4e00q6 1543 8 initiation initiation NN cord-014712-5u4e00q6 1543 9 of of IN cord-014712-5u4e00q6 1543 10 home home NN cord-014712-5u4e00q6 1543 11 - - HYPH cord-014712-5u4e00q6 1543 12 based base VBN cord-014712-5u4e00q6 1543 13 treatment treatment NN cord-014712-5u4e00q6 1543 14 with with IN cord-014712-5u4e00q6 1543 15 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 1543 16 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1543 17 ( ( -LRB- cord-014712-5u4e00q6 1543 18 SCIG SCIG NNP cord-014712-5u4e00q6 1543 19 ) ) -RRB- cord-014712-5u4e00q6 1543 20 with with IN cord-014712-5u4e00q6 1543 21 the the DT cord-014712-5u4e00q6 1543 22 patients patient NNS cord-014712-5u4e00q6 1543 23 diagnosed diagnose VBN cord-014712-5u4e00q6 1543 24 with with IN cord-014712-5u4e00q6 1543 25 primary primary JJ cord-014712-5u4e00q6 1543 26 variable variable JJ cord-014712-5u4e00q6 1543 27 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1543 28 ( ( -LRB- cord-014712-5u4e00q6 1543 29 CVID CVID NNP cord-014712-5u4e00q6 1543 30 ) ) -RRB- cord-014712-5u4e00q6 1543 31 . . . cord-014712-5u4e00q6 1544 1 Case case NN cord-014712-5u4e00q6 1544 2 report report NN cord-014712-5u4e00q6 1544 3 : : : cord-014712-5u4e00q6 1544 4 The the DT cord-014712-5u4e00q6 1544 5 patient patient NN cord-014712-5u4e00q6 1544 6 ( ( -LRB- cord-014712-5u4e00q6 1544 7 age age NN cord-014712-5u4e00q6 1544 8 30 30 CD cord-014712-5u4e00q6 1544 9 ) ) -RRB- cord-014712-5u4e00q6 1544 10 has have VBZ cord-014712-5u4e00q6 1544 11 been be VBN cord-014712-5u4e00q6 1544 12 treated treat VBN cord-014712-5u4e00q6 1544 13 at at IN cord-014712-5u4e00q6 1544 14 our -PRON- PRP$ cord-014712-5u4e00q6 1544 15 immuno immuno JJ cord-014712-5u4e00q6 1544 16 - - HYPH cord-014712-5u4e00q6 1544 17 allergy allergy NN cord-014712-5u4e00q6 1544 18 outpatient outpatient NN cord-014712-5u4e00q6 1544 19 clinic clinic NN cord-014712-5u4e00q6 1544 20 since since IN cord-014712-5u4e00q6 1544 21 2005 2005 CD cord-014712-5u4e00q6 1544 22 with with IN cord-014712-5u4e00q6 1544 23 the the DT cord-014712-5u4e00q6 1544 24 diagnosis diagnosis NN cord-014712-5u4e00q6 1544 25 of of IN cord-014712-5u4e00q6 1544 26 hypogammaglobulinemia hypogammaglobulinemia NNP cord-014712-5u4e00q6 1544 27 ( ( -LRB- cord-014712-5u4e00q6 1544 28 IgG IgG NNP cord-014712-5u4e00q6 1544 29 , , , cord-014712-5u4e00q6 1544 30 IgA IgA NNP cord-014712-5u4e00q6 1544 31 , , , cord-014712-5u4e00q6 1544 32 IgM IgM NNP cord-014712-5u4e00q6 1544 33 ) ) -RRB- cord-014712-5u4e00q6 1544 34 with with IN cord-014712-5u4e00q6 1544 35 normal normal JJ cord-014712-5u4e00q6 1544 36 B b NN cord-014712-5u4e00q6 1544 37 cell cell NN cord-014712-5u4e00q6 1544 38 count count NN cord-014712-5u4e00q6 1544 39 , , , cord-014712-5u4e00q6 1544 40 withsusp withsusp NN cord-014712-5u4e00q6 1544 41 . . . cord-014712-5u4e00q6 1545 1 CVID CVID NNP cord-014712-5u4e00q6 1545 2 . . . cord-014712-5u4e00q6 1546 1 With with IN cord-014712-5u4e00q6 1546 2 the the DT cord-014712-5u4e00q6 1546 3 repeated repeated JJ cord-014712-5u4e00q6 1546 4 administration administration NN cord-014712-5u4e00q6 1546 5 of of IN cord-014712-5u4e00q6 1546 6 intramuscular intramuscular JJ cord-014712-5u4e00q6 1546 7 and and CC cord-014712-5u4e00q6 1546 8 intravenous intravenous JJ cord-014712-5u4e00q6 1546 9 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 1546 10 ( ( -LRB- cord-014712-5u4e00q6 1546 11 IVIG IVIG NNP cord-014712-5u4e00q6 1546 12 , , , cord-014712-5u4e00q6 1546 13 IMIG IMIG NNP cord-014712-5u4e00q6 1546 14 ) ) -RRB- cord-014712-5u4e00q6 1546 15 repeatedly repeatedly RB cord-014712-5u4e00q6 1546 16 occurred occur VBD cord-014712-5u4e00q6 1546 17 serious serious JJ cord-014712-5u4e00q6 1546 18 adverse adverse JJ cord-014712-5u4e00q6 1546 19 reactions reaction NNS cord-014712-5u4e00q6 1546 20 , , , cord-014712-5u4e00q6 1546 21 which which WDT cord-014712-5u4e00q6 1546 22 resulted result VBD cord-014712-5u4e00q6 1546 23 in in IN cord-014712-5u4e00q6 1546 24 discontinuation discontinuation NN cord-014712-5u4e00q6 1546 25 of of IN cord-014712-5u4e00q6 1546 26 the the DT cord-014712-5u4e00q6 1546 27 replacement replacement NN cord-014712-5u4e00q6 1546 28 therapy therapy NN cord-014712-5u4e00q6 1546 29 . . . cord-014712-5u4e00q6 1547 1 In in IN cord-014712-5u4e00q6 1547 2 February February NNP cord-014712-5u4e00q6 1547 3 2012 2012 CD cord-014712-5u4e00q6 1547 4 the the DT cord-014712-5u4e00q6 1547 5 health health NN cord-014712-5u4e00q6 1547 6 condition condition NN cord-014712-5u4e00q6 1547 7 of of IN cord-014712-5u4e00q6 1547 8 the the DT cord-014712-5u4e00q6 1547 9 patient patient NN cord-014712-5u4e00q6 1547 10 worsened worsen VBD cord-014712-5u4e00q6 1547 11 due due IN cord-014712-5u4e00q6 1547 12 to to IN cord-014712-5u4e00q6 1547 13 recurrent recurrent JJ cord-014712-5u4e00q6 1547 14 bacterial bacterial JJ cord-014712-5u4e00q6 1547 15 respiratory respiratory JJ cord-014712-5u4e00q6 1547 16 infections infection NNS cord-014712-5u4e00q6 1547 17 . . . cord-014712-5u4e00q6 1548 1 There there EX cord-014712-5u4e00q6 1548 2 was be VBD cord-014712-5u4e00q6 1548 3 a a DT cord-014712-5u4e00q6 1548 4 progressive progressive JJ cord-014712-5u4e00q6 1548 5 decrease decrease NN cord-014712-5u4e00q6 1548 6 of of IN cord-014712-5u4e00q6 1548 7 serum serum NN cord-014712-5u4e00q6 1548 8 concentrations concentration NNS cord-014712-5u4e00q6 1548 9 of of IN cord-014712-5u4e00q6 1548 10 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 1548 11 ( ( -LRB- cord-014712-5u4e00q6 1548 12 IgG IgG NNP cord-014712-5u4e00q6 1548 13 2,1 2,1 CD cord-014712-5u4e00q6 1548 14 g g NNP cord-014712-5u4e00q6 1548 15 / / SYM cord-014712-5u4e00q6 1548 16 l l NNP cord-014712-5u4e00q6 1548 17 , , , cord-014712-5u4e00q6 1548 18 IgM IgM NNP cord-014712-5u4e00q6 1548 19 0,25 0,25 NNP cord-014712-5u4e00q6 1548 20 g g NNP cord-014712-5u4e00q6 1548 21 / / SYM cord-014712-5u4e00q6 1548 22 l l NNP cord-014712-5u4e00q6 1548 23 , , , cord-014712-5u4e00q6 1548 24 IgA IgA NNP cord-014712-5u4e00q6 1548 25 0,23 0,23 CD cord-014712-5u4e00q6 1548 26 g g NNP cord-014712-5u4e00q6 1548 27 / / SYM cord-014712-5u4e00q6 1548 28 l l NN cord-014712-5u4e00q6 1548 29 ) ) -RRB- cord-014712-5u4e00q6 1548 30 . . . cord-014712-5u4e00q6 1549 1 The the DT cord-014712-5u4e00q6 1549 2 patient patient NN cord-014712-5u4e00q6 1549 3 was be VBD cord-014712-5u4e00q6 1549 4 admitted admit VBN cord-014712-5u4e00q6 1549 5 to to IN cord-014712-5u4e00q6 1549 6 the the DT cord-014712-5u4e00q6 1549 7 intensive intensive JJ cord-014712-5u4e00q6 1549 8 care care NN cord-014712-5u4e00q6 1549 9 unit unit NN cord-014712-5u4e00q6 1549 10 of of IN cord-014712-5u4e00q6 1549 11 the the DT cord-014712-5u4e00q6 1549 12 1 1 CD cord-014712-5u4e00q6 1549 13 st st NNP cord-014712-5u4e00q6 1549 14 Internal Internal NNP cord-014712-5u4e00q6 1549 15 Department Department NNP cord-014712-5u4e00q6 1549 16 , , , cord-014712-5u4e00q6 1549 17 University University NNP cord-014712-5u4e00q6 1549 18 Hospital Hospital NNP cord-014712-5u4e00q6 1549 19 Bratislava Bratislava NNP cord-014712-5u4e00q6 1549 20 , , , cord-014712-5u4e00q6 1549 21 for for IN cord-014712-5u4e00q6 1549 22 a a DT cord-014712-5u4e00q6 1549 23 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 1549 24 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1549 25 replacement replacement NN cord-014712-5u4e00q6 1549 26 trial trial NN cord-014712-5u4e00q6 1549 27 . . . cord-014712-5u4e00q6 1550 1 Despite despite IN cord-014712-5u4e00q6 1550 2 serious serious JJ cord-014712-5u4e00q6 1550 3 adverse adverse JJ cord-014712-5u4e00q6 1550 4 reactions reaction NNS cord-014712-5u4e00q6 1550 5 with with IN cord-014712-5u4e00q6 1550 6 previous previous JJ cord-014712-5u4e00q6 1550 7 administration administration NN cord-014712-5u4e00q6 1550 8 of of IN cord-014712-5u4e00q6 1550 9 several several JJ cord-014712-5u4e00q6 1550 10 types type NNS cord-014712-5u4e00q6 1550 11 of of IN cord-014712-5u4e00q6 1550 12 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 1550 13 , , , cord-014712-5u4e00q6 1550 14 there there EX cord-014712-5u4e00q6 1550 15 have have VBP cord-014712-5u4e00q6 1550 16 not not RB cord-014712-5u4e00q6 1550 17 occurred occur VBN cord-014712-5u4e00q6 1550 18 any any DT cord-014712-5u4e00q6 1550 19 clinically clinically RB cord-014712-5u4e00q6 1550 20 relevant relevant JJ cord-014712-5u4e00q6 1550 21 side side NN cord-014712-5u4e00q6 1550 22 effects effect NNS cord-014712-5u4e00q6 1550 23 . . . cord-014712-5u4e00q6 1551 1 Conclusion conclusion NN cord-014712-5u4e00q6 1551 2 : : : cord-014712-5u4e00q6 1552 1 Compared compare VBN cord-014712-5u4e00q6 1552 2 with with IN cord-014712-5u4e00q6 1552 3 IM IM NNP cord-014712-5u4e00q6 1552 4 or or CC cord-014712-5u4e00q6 1552 5 IV IV NNP cord-014712-5u4e00q6 1552 6 formulations formulation NNS cord-014712-5u4e00q6 1552 7 and and CC cord-014712-5u4e00q6 1552 8 administration administration NN cord-014712-5u4e00q6 1552 9 , , , cord-014712-5u4e00q6 1552 10 for for IN cord-014712-5u4e00q6 1552 11 selected select VBN cord-014712-5u4e00q6 1552 12 patients patient NNS cord-014712-5u4e00q6 1552 13 , , , cord-014712-5u4e00q6 1552 14 SCIG SCIG NNP cord-014712-5u4e00q6 1552 15 is be VBZ cord-014712-5u4e00q6 1552 16 better well RBR cord-014712-5u4e00q6 1552 17 tolerated tolerate VBN cord-014712-5u4e00q6 1552 18 , , , cord-014712-5u4e00q6 1552 19 clinically clinically RB cord-014712-5u4e00q6 1552 20 efficacious efficacious JJ cord-014712-5u4e00q6 1552 21 , , , cord-014712-5u4e00q6 1552 22 safe safe JJ cord-014712-5u4e00q6 1552 23 , , , cord-014712-5u4e00q6 1552 24 and and CC cord-014712-5u4e00q6 1552 25 appreciated appreciate VBN cord-014712-5u4e00q6 1552 26 by by IN cord-014712-5u4e00q6 1552 27 the the DT cord-014712-5u4e00q6 1552 28 patients patient NNS cord-014712-5u4e00q6 1552 29 . . . cord-014712-5u4e00q6 1553 1 Background background NN cord-014712-5u4e00q6 1553 2 : : : cord-014712-5u4e00q6 1554 1 Common common JJ cord-014712-5u4e00q6 1554 2 variable variable JJ cord-014712-5u4e00q6 1554 3 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1554 4 ( ( -LRB- cord-014712-5u4e00q6 1554 5 CVID CVID NNP cord-014712-5u4e00q6 1554 6 ) ) -RRB- cord-014712-5u4e00q6 1554 7 is be VBZ cord-014712-5u4e00q6 1554 8 primary primary JJ cord-014712-5u4e00q6 1554 9 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1554 10 ( ( -LRB- cord-014712-5u4e00q6 1554 11 PID PID NNP cord-014712-5u4e00q6 1554 12 ) ) -RRB- cord-014712-5u4e00q6 1554 13 classically classically RB cord-014712-5u4e00q6 1554 14 viewed view VBN cord-014712-5u4e00q6 1554 15 as as IN cord-014712-5u4e00q6 1554 16 antibody antibody NN cord-014712-5u4e00q6 1554 17 deficit deficit NN cord-014712-5u4e00q6 1554 18 . . . cord-014712-5u4e00q6 1555 1 Although although IN cord-014712-5u4e00q6 1555 2 , , , cord-014712-5u4e00q6 1555 3 CVID CVID NNP cord-014712-5u4e00q6 1555 4 is be VBZ cord-014712-5u4e00q6 1555 5 considerd considerd VBN cord-014712-5u4e00q6 1555 6 to to TO cord-014712-5u4e00q6 1555 7 be be VB cord-014712-5u4e00q6 1555 8 a a DT cord-014712-5u4e00q6 1555 9 humoral humoral JJ cord-014712-5u4e00q6 1555 10 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1555 11 , , , cord-014712-5u4e00q6 1555 12 approximately approximately RB cord-014712-5u4e00q6 1555 13 40 40 CD cord-014712-5u4e00q6 1555 14 % % NN cord-014712-5u4e00q6 1555 15 of of IN cord-014712-5u4e00q6 1555 16 CVID CVID NNP cord-014712-5u4e00q6 1555 17 patients patient NNS cord-014712-5u4e00q6 1555 18 have have VBP cord-014712-5u4e00q6 1555 19 low low JJ cord-014712-5u4e00q6 1555 20 T t NN cord-014712-5u4e00q6 1555 21 - - HYPH cord-014712-5u4e00q6 1555 22 cell cell NN cord-014712-5u4e00q6 1555 23 counts count NNS cord-014712-5u4e00q6 1555 24 or or CC cord-014712-5u4e00q6 1555 25 abnormal abnormal JJ cord-014712-5u4e00q6 1555 26 Tcell Tcell NNP cord-014712-5u4e00q6 1555 27 function function NN cord-014712-5u4e00q6 1555 28 . . . cord-014712-5u4e00q6 1556 1 Despite despite IN cord-014712-5u4e00q6 1556 2 adequate adequate JJ cord-014712-5u4e00q6 1556 3 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1556 4 replacement replacement NN cord-014712-5u4e00q6 1556 5 patient patient NN cord-014712-5u4e00q6 1556 6 morbidity morbidity NN cord-014712-5u4e00q6 1556 7 and and CC cord-014712-5u4e00q6 1556 8 mortality mortality NN cord-014712-5u4e00q6 1556 9 is be VBZ cord-014712-5u4e00q6 1556 10 variable variable JJ cord-014712-5u4e00q6 1556 11 and and CC cord-014712-5u4e00q6 1556 12 a a DT cord-014712-5u4e00q6 1556 13 number number NN cord-014712-5u4e00q6 1556 14 of of IN cord-014712-5u4e00q6 1556 15 complications complication NNS cord-014712-5u4e00q6 1556 16 are be VBP cord-014712-5u4e00q6 1556 17 not not RB cord-014712-5u4e00q6 1556 18 those those DT cord-014712-5u4e00q6 1556 19 typically typically RB cord-014712-5u4e00q6 1556 20 seen see VBN cord-014712-5u4e00q6 1556 21 in in IN cord-014712-5u4e00q6 1556 22 pure pure JJ cord-014712-5u4e00q6 1556 23 antibody antibody NN cord-014712-5u4e00q6 1556 24 PID pid NN cord-014712-5u4e00q6 1557 1 e.g. e.g. RB cord-014712-5u4e00q6 1557 2 XLA XLA NNP cord-014712-5u4e00q6 1557 3 . . . cord-014712-5u4e00q6 1558 1 So so RB cord-014712-5u4e00q6 1558 2 , , , cord-014712-5u4e00q6 1558 3 T t NN cord-014712-5u4e00q6 1558 4 - - HYPH cord-014712-5u4e00q6 1558 5 cell cell NN cord-014712-5u4e00q6 1558 6 rather rather RB cord-014712-5u4e00q6 1558 7 than than IN cord-014712-5u4e00q6 1558 8 B b NN cord-014712-5u4e00q6 1558 9 - - HYPH cord-014712-5u4e00q6 1558 10 cell cell NN cord-014712-5u4e00q6 1558 11 phenotype phenotype NN cord-014712-5u4e00q6 1558 12 could could MD cord-014712-5u4e00q6 1558 13 determine determine VB cord-014712-5u4e00q6 1558 14 outcome outcome NN cord-014712-5u4e00q6 1558 15 in in IN cord-014712-5u4e00q6 1558 16 patients patient NNS cord-014712-5u4e00q6 1558 17 with with IN cord-014712-5u4e00q6 1558 18 CVID CVID NNP cord-014712-5u4e00q6 1558 19 . . . cord-014712-5u4e00q6 1559 1 Many many JJ cord-014712-5u4e00q6 1559 2 patients patient NNS cord-014712-5u4e00q6 1559 3 with with IN cord-014712-5u4e00q6 1559 4 CVID CVID NNP cord-014712-5u4e00q6 1559 5 have have VBP cord-014712-5u4e00q6 1559 6 clinical clinical JJ cord-014712-5u4e00q6 1559 7 history history NN cord-014712-5u4e00q6 1559 8 suggestive suggestive JJ cord-014712-5u4e00q6 1559 9 of of IN cord-014712-5u4e00q6 1559 10 allergic allergic JJ cord-014712-5u4e00q6 1559 11 respiratory respiratory JJ cord-014712-5u4e00q6 1559 12 disease disease NN cord-014712-5u4e00q6 1559 13 , , , cord-014712-5u4e00q6 1559 14 but but CC cord-014712-5u4e00q6 1559 15 prevalence prevalence NN cord-014712-5u4e00q6 1559 16 of of IN cord-014712-5u4e00q6 1559 17 asthma asthma NN cord-014712-5u4e00q6 1559 18 and and CC cord-014712-5u4e00q6 1559 19 role role NN cord-014712-5u4e00q6 1559 20 of of IN cord-014712-5u4e00q6 1559 21 atopy atopy NN cord-014712-5u4e00q6 1559 22 have have VBP cord-014712-5u4e00q6 1559 23 not not RB cord-014712-5u4e00q6 1559 24 been be VBN cord-014712-5u4e00q6 1559 25 well well RB cord-014712-5u4e00q6 1559 26 established establish VBN cord-014712-5u4e00q6 1559 27 . . . cord-014712-5u4e00q6 1560 1 Apart apart RB cord-014712-5u4e00q6 1560 2 from from IN cord-014712-5u4e00q6 1560 3 recurrent recurrent JJ cord-014712-5u4e00q6 1560 4 infections infection NNS cord-014712-5u4e00q6 1560 5 and and CC cord-014712-5u4e00q6 1560 6 their -PRON- PRP$ cord-014712-5u4e00q6 1560 7 sequelae sequela NNS cord-014712-5u4e00q6 1560 8 , , , cord-014712-5u4e00q6 1560 9 CVID CVID NNP cord-014712-5u4e00q6 1560 10 patients patient NNS cord-014712-5u4e00q6 1560 11 suffer suffer VBP cord-014712-5u4e00q6 1560 12 from from IN cord-014712-5u4e00q6 1560 13 other other JJ cord-014712-5u4e00q6 1560 14 disease disease NN cord-014712-5u4e00q6 1560 15 - - HYPH cord-014712-5u4e00q6 1560 16 related relate VBN cord-014712-5u4e00q6 1560 17 complications complication NNS cord-014712-5u4e00q6 1560 18 in in IN cord-014712-5u4e00q6 1560 19 up up IN cord-014712-5u4e00q6 1560 20 to to TO cord-014712-5u4e00q6 1560 21 45 45 CD cord-014712-5u4e00q6 1560 22 % % NN cord-014712-5u4e00q6 1560 23 of of IN cord-014712-5u4e00q6 1560 24 the the DT cord-014712-5u4e00q6 1560 25 cases case NNS cord-014712-5u4e00q6 1560 26 . . . cord-014712-5u4e00q6 1561 1 About about RB cord-014712-5u4e00q6 1561 2 25 25 CD cord-014712-5u4e00q6 1561 3 % % NN cord-014712-5u4e00q6 1561 4 have have VBP cord-014712-5u4e00q6 1561 5 onset onset NN cord-014712-5u4e00q6 1561 6 before before IN cord-014712-5u4e00q6 1561 7 the the DT cord-014712-5u4e00q6 1561 8 age age NN cord-014712-5u4e00q6 1561 9 of of IN cord-014712-5u4e00q6 1561 10 15 15 CD cord-014712-5u4e00q6 1561 11 years year NNS cord-014712-5u4e00q6 1561 12 . . . cord-014712-5u4e00q6 1562 1 Aims aim VBZ cord-014712-5u4e00q6 1562 2 : : : cord-014712-5u4e00q6 1562 3 1 1 LS cord-014712-5u4e00q6 1562 4 ) ) -RRB- cord-014712-5u4e00q6 1562 5 to to TO cord-014712-5u4e00q6 1562 6 present present VB cord-014712-5u4e00q6 1562 7 one one CD cord-014712-5u4e00q6 1562 8 more more JJR cord-014712-5u4e00q6 1562 9 case case NN cord-014712-5u4e00q6 1562 10 of of IN cord-014712-5u4e00q6 1562 11 tadolescent tadolescent NN cord-014712-5u4e00q6 1562 12 with with IN cord-014712-5u4e00q6 1562 13 CVID CVID NNP cord-014712-5u4e00q6 1562 14 and and CC cord-014712-5u4e00q6 1562 15 allergic allergic JJ cord-014712-5u4e00q6 1562 16 asthma asthma NN cord-014712-5u4e00q6 1562 17 , , , cord-014712-5u4e00q6 1562 18 2 2 CD cord-014712-5u4e00q6 1562 19 ) ) -RRB- cord-014712-5u4e00q6 1563 1 emphasise emphasise VB cord-014712-5u4e00q6 1563 2 ultimate ultimate JJ cord-014712-5u4e00q6 1563 3 need need NN cord-014712-5u4e00q6 1563 4 of of IN cord-014712-5u4e00q6 1563 5 collaborative collaborative JJ cord-014712-5u4e00q6 1563 6 network network NN cord-014712-5u4e00q6 1563 7 of of IN cord-014712-5u4e00q6 1563 8 primary primary JJ cord-014712-5u4e00q6 1563 9 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1563 10 centers center NNS cord-014712-5u4e00q6 1563 11 . . . cord-014712-5u4e00q6 1564 1 Case case NN cord-014712-5u4e00q6 1564 2 report report NN cord-014712-5u4e00q6 1564 3 : : : cord-014712-5u4e00q6 1564 4 Parents parent NNS cord-014712-5u4e00q6 1564 5 of of IN cord-014712-5u4e00q6 1564 6 12,5 12,5 CD cord-014712-5u4e00q6 1564 7 y y NN cord-014712-5u4e00q6 1564 8 boy boy NN cord-014712-5u4e00q6 1564 9 were be VBD cord-014712-5u4e00q6 1564 10 sure sure JJ cord-014712-5u4e00q6 1564 11 that that IN cord-014712-5u4e00q6 1564 12 " " `` cord-014712-5u4e00q6 1564 13 something something NN cord-014712-5u4e00q6 1564 14 was be VBD cord-014712-5u4e00q6 1564 15 wrong wrong JJ cord-014712-5u4e00q6 1564 16 " " '' cord-014712-5u4e00q6 1564 17 with with IN cord-014712-5u4e00q6 1564 18 their -PRON- PRP$ cord-014712-5u4e00q6 1564 19 son son NN cord-014712-5u4e00q6 1564 20 and and CC cord-014712-5u4e00q6 1564 21 were be VBD cord-014712-5u4e00q6 1564 22 seaking seake VBG cord-014712-5u4e00q6 1564 23 for for IN cord-014712-5u4e00q6 1564 24 problem problem NN cord-014712-5u4e00q6 1564 25 solution solution NN cord-014712-5u4e00q6 1564 26 for for IN cord-014712-5u4e00q6 1564 27 many many JJ cord-014712-5u4e00q6 1564 28 years year NNS cord-014712-5u4e00q6 1564 29 . . . cord-014712-5u4e00q6 1565 1 Since since IN cord-014712-5u4e00q6 1565 2 age age NN cord-014712-5u4e00q6 1565 3 3 3 CD cord-014712-5u4e00q6 1565 4 , , , cord-014712-5u4e00q6 1565 5 child child NN cord-014712-5u4e00q6 1565 6 had have VBD cord-014712-5u4e00q6 1565 7 frequent frequent JJ cord-014712-5u4e00q6 1565 8 respiratory respiratory JJ cord-014712-5u4e00q6 1565 9 infections infection NNS cord-014712-5u4e00q6 1565 10 . . . cord-014712-5u4e00q6 1566 1 Adenoidectomy adenoidectomy JJ cord-014712-5u4e00q6 1566 2 and and CC cord-014712-5u4e00q6 1566 3 tonsillectomy tonsillectomy NN cord-014712-5u4e00q6 1566 4 were be VBD cord-014712-5u4e00q6 1566 5 performed perform VBN cord-014712-5u4e00q6 1566 6 at at IN cord-014712-5u4e00q6 1566 7 age age NN cord-014712-5u4e00q6 1566 8 6 6 CD cord-014712-5u4e00q6 1566 9 . . . cord-014712-5u4e00q6 1567 1 Sinuitis Sinuitis NNP cord-014712-5u4e00q6 1567 2 was be VBD cord-014712-5u4e00q6 1567 3 diagnosed diagnose VBN cord-014712-5u4e00q6 1567 4 several several JJ cord-014712-5u4e00q6 1567 5 times time NNS cord-014712-5u4e00q6 1567 6 . . . cord-014712-5u4e00q6 1568 1 Boy Boy NNP cord-014712-5u4e00q6 1568 2 was be VBD cord-014712-5u4e00q6 1568 3 complaining complain VBG cord-014712-5u4e00q6 1568 4 of of IN cord-014712-5u4e00q6 1568 5 fatique fatique NN cord-014712-5u4e00q6 1568 6 for for IN cord-014712-5u4e00q6 1568 7 a a DT cord-014712-5u4e00q6 1568 8 long long JJ cord-014712-5u4e00q6 1568 9 time time NN cord-014712-5u4e00q6 1568 10 . . . cord-014712-5u4e00q6 1569 1 Last last JJ cord-014712-5u4e00q6 1569 2 several several JJ cord-014712-5u4e00q6 1569 3 years year NNS cord-014712-5u4e00q6 1569 4 , , , cord-014712-5u4e00q6 1569 5 his -PRON- PRP$ cord-014712-5u4e00q6 1569 6 main main JJ cord-014712-5u4e00q6 1569 7 problems problem NNS cord-014712-5u4e00q6 1569 8 were be VBD cord-014712-5u4e00q6 1569 9 fever fever NN cord-014712-5u4e00q6 1569 10 ( ( -LRB- cord-014712-5u4e00q6 1569 11 max max NNP cord-014712-5u4e00q6 1569 12 41 41 CD cord-014712-5u4e00q6 1569 13 C C NNP cord-014712-5u4e00q6 1569 14 ) ) -RRB- cord-014712-5u4e00q6 1569 15 usually usually RB cord-014712-5u4e00q6 1569 16 lasting last VBG cord-014712-5u4e00q6 1569 17 5 5 CD cord-014712-5u4e00q6 1569 18 days day NNS cord-014712-5u4e00q6 1569 19 till till IN cord-014712-5u4e00q6 1569 20 2 2 CD cord-014712-5u4e00q6 1569 21 weeks week NNS cord-014712-5u4e00q6 1569 22 , , , cord-014712-5u4e00q6 1569 23 accompanying accompany VBG cord-014712-5u4e00q6 1569 24 running run VBG cord-014712-5u4e00q6 1569 25 nose nose NN cord-014712-5u4e00q6 1569 26 , , , cord-014712-5u4e00q6 1569 27 coughing coughing NN cord-014712-5u4e00q6 1569 28 , , , cord-014712-5u4e00q6 1569 29 conjunctival conjunctival NN cord-014712-5u4e00q6 1569 30 problems problem NNS cord-014712-5u4e00q6 1569 31 ; ; : cord-014712-5u4e00q6 1569 32 intermittently intermittently RB cord-014712-5u4e00q6 1569 33 headache headache NN cord-014712-5u4e00q6 1569 34 ( ( -LRB- cord-014712-5u4e00q6 1569 35 lasting last VBG cord-014712-5u4e00q6 1569 36 for for IN cord-014712-5u4e00q6 1569 37 a a DT cord-014712-5u4e00q6 1569 38 few few JJ cord-014712-5u4e00q6 1569 39 hours hour NNS cord-014712-5u4e00q6 1569 40 till till IN cord-014712-5u4e00q6 1569 41 all all DT cord-014712-5u4e00q6 1569 42 day day NN cord-014712-5u4e00q6 1569 43 ) ) -RRB- cord-014712-5u4e00q6 1569 44 . . . cord-014712-5u4e00q6 1570 1 Oral oral JJ cord-014712-5u4e00q6 1570 2 aphtae aphtae NNP cord-014712-5u4e00q6 1570 3 were be VBD cord-014712-5u4e00q6 1570 4 present present JJ cord-014712-5u4e00q6 1570 5 almost almost RB cord-014712-5u4e00q6 1570 6 every every DT cord-014712-5u4e00q6 1570 7 two two CD cord-014712-5u4e00q6 1570 8 weeks week NNS cord-014712-5u4e00q6 1570 9 . . . cord-014712-5u4e00q6 1571 1 He -PRON- PRP cord-014712-5u4e00q6 1571 2 was be VBD cord-014712-5u4e00q6 1571 3 incompletely incompletely RB cord-014712-5u4e00q6 1571 4 vaccinated vaccinate VBN cord-014712-5u4e00q6 1571 5 ( ( -LRB- cord-014712-5u4e00q6 1571 6 BCG BCG NNP cord-014712-5u4e00q6 1571 7 , , , cord-014712-5u4e00q6 1571 8 and and CC cord-014712-5u4e00q6 1571 9 once once RB cord-014712-5u4e00q6 1571 10 DiTePer DiTePer NNP cord-014712-5u4e00q6 1571 11 ) ) -RRB- cord-014712-5u4e00q6 1571 12 . . . cord-014712-5u4e00q6 1572 1 Morbilli Morbilli NNP cord-014712-5u4e00q6 1572 2 and and CC cord-014712-5u4e00q6 1572 3 varicellae varicellae NNP cord-014712-5u4e00q6 1572 4 infections infection NNS cord-014712-5u4e00q6 1572 5 passed pass VBN cord-014712-5u4e00q6 1572 6 without without IN cord-014712-5u4e00q6 1572 7 complications complication NNS cord-014712-5u4e00q6 1572 8 . . . cord-014712-5u4e00q6 1573 1 In in IN cord-014712-5u4e00q6 1573 2 Jan Jan NNP cord-014712-5u4e00q6 1573 3 2012 2012 CD cord-014712-5u4e00q6 1573 4 he -PRON- PRP cord-014712-5u4e00q6 1573 5 was be VBD cord-014712-5u4e00q6 1573 6 diagnosed diagnose VBN cord-014712-5u4e00q6 1573 7 as as IN cord-014712-5u4e00q6 1573 8 allergic allergic JJ cord-014712-5u4e00q6 1573 9 asthma asthma NN cord-014712-5u4e00q6 1573 10 in in IN cord-014712-5u4e00q6 1573 11 Sarajevo Sarajevo NNP cord-014712-5u4e00q6 1573 12 ( ( -LRB- cord-014712-5u4e00q6 1573 13 allergy allergy NN cord-014712-5u4e00q6 1573 14 to to IN cord-014712-5u4e00q6 1573 15 pollen pollen NN cord-014712-5u4e00q6 1573 16 , , , cord-014712-5u4e00q6 1573 17 soya soya NN cord-014712-5u4e00q6 1573 18 , , , cord-014712-5u4e00q6 1573 19 nuts nut NNS cord-014712-5u4e00q6 1573 20 and and CC cord-014712-5u4e00q6 1573 21 antibiotics antibiotic NNS cord-014712-5u4e00q6 1573 22 ( ( -LRB- cord-014712-5u4e00q6 1573 23 " " `` cord-014712-5u4e00q6 1573 24 Ceclor Ceclor NNP cord-014712-5u4e00q6 1573 25 " " '' cord-014712-5u4e00q6 1573 26 and and CC cord-014712-5u4e00q6 1573 27 " " `` cord-014712-5u4e00q6 1573 28 Pancef Pancef NNP cord-014712-5u4e00q6 1573 29 " " '' cord-014712-5u4e00q6 1573 30 ) ) -RRB- cord-014712-5u4e00q6 1573 31 . . . cord-014712-5u4e00q6 1574 1 In in IN cord-014712-5u4e00q6 1574 2 February February NNP cord-014712-5u4e00q6 1574 3 2012 2012 CD cord-014712-5u4e00q6 1574 4 was be VBD cord-014712-5u4e00q6 1574 5 admitted admit VBN cord-014712-5u4e00q6 1574 6 at at IN cord-014712-5u4e00q6 1574 7 Children Children NNP cord-014712-5u4e00q6 1574 8 's 's POS cord-014712-5u4e00q6 1574 9 Hospital Hospital NNP cord-014712-5u4e00q6 1574 10 Sarajevo Sarajevo NNP cord-014712-5u4e00q6 1574 11 for for IN cord-014712-5u4e00q6 1574 12 suspected suspect VBN cord-014712-5u4e00q6 1574 13 primary primary JJ cord-014712-5u4e00q6 1574 14 mmunodeficiency mmunodeficiency NN cord-014712-5u4e00q6 1574 15 . . . cord-014712-5u4e00q6 1575 1 He -PRON- PRP cord-014712-5u4e00q6 1575 2 had have VBD cord-014712-5u4e00q6 1575 3 slightly slightly RB cord-014712-5u4e00q6 1575 4 lower low JJR cord-014712-5u4e00q6 1575 5 levels level NNS cord-014712-5u4e00q6 1575 6 of of IN cord-014712-5u4e00q6 1575 7 IgG IgG NNP cord-014712-5u4e00q6 1575 8 and and CC cord-014712-5u4e00q6 1575 9 IgA IgA NNP cord-014712-5u4e00q6 1575 10 ( ( -LRB- cord-014712-5u4e00q6 1575 11 twice twice RB cord-014712-5u4e00q6 1575 12 measured measure VBN cord-014712-5u4e00q6 1575 13 ) ) -RRB- cord-014712-5u4e00q6 1575 14 , , , cord-014712-5u4e00q6 1575 15 normal normal JJ cord-014712-5u4e00q6 1575 16 IgE IgE NNP cord-014712-5u4e00q6 1575 17 and and CC cord-014712-5u4e00q6 1575 18 decreased decrease VBD cord-014712-5u4e00q6 1575 19 number number NN cord-014712-5u4e00q6 1575 20 of of IN cord-014712-5u4e00q6 1575 21 T T NNP cord-014712-5u4e00q6 1575 22 helper helper NN cord-014712-5u4e00q6 1575 23 Ly Ly NNP cord-014712-5u4e00q6 1575 24 . . . cord-014712-5u4e00q6 1576 1 Due due IN cord-014712-5u4e00q6 1576 2 to to IN cord-014712-5u4e00q6 1576 3 suspected suspect VBN cord-014712-5u4e00q6 1576 4 PID pid NN cord-014712-5u4e00q6 1576 5 , , , cord-014712-5u4e00q6 1576 6 boy boy NN cord-014712-5u4e00q6 1576 7 was be VBD cord-014712-5u4e00q6 1576 8 checked check VBN cord-014712-5u4e00q6 1576 9 up up RP cord-014712-5u4e00q6 1576 10 in in IN cord-014712-5u4e00q6 1576 11 two two CD cord-014712-5u4e00q6 1576 12 nearest near JJS cord-014712-5u4e00q6 1576 13 regional regional JJ cord-014712-5u4e00q6 1576 14 PID PID NNP cord-014712-5u4e00q6 1576 15 centers center NNS cord-014712-5u4e00q6 1576 16 : : : cord-014712-5u4e00q6 1576 17 hypogammaglobulinemia hypogammaglobulinemia NNP cord-014712-5u4e00q6 1576 18 was be VBD cord-014712-5u4e00q6 1576 19 confirmed confirm VBN cord-014712-5u4e00q6 1576 20 ( ( -LRB- cord-014712-5u4e00q6 1576 21 IgG IgG NNP cord-014712-5u4e00q6 1576 22 4,7 4,7 CD cord-014712-5u4e00q6 1576 23 , , , cord-014712-5u4e00q6 1576 24 IgA IgA NNP cord-014712-5u4e00q6 1576 25 0,24 0,24 NNP cord-014712-5u4e00q6 1576 26 , , , cord-014712-5u4e00q6 1576 27 IgM IgM NNP cord-014712-5u4e00q6 1576 28 0,46 0,46 NNP cord-014712-5u4e00q6 1576 29 , , , cord-014712-5u4e00q6 1576 30 as as RB cord-014712-5u4e00q6 1576 31 well well RB cord-014712-5u4e00q6 1576 32 as as IN cord-014712-5u4e00q6 1576 33 deficiency deficiency NN cord-014712-5u4e00q6 1576 34 of of IN cord-014712-5u4e00q6 1576 35 IgG1 IgG1 NNP cord-014712-5u4e00q6 1576 36 , , , cord-014712-5u4e00q6 1576 37 IgG2 igg2 NN cord-014712-5u4e00q6 1576 38 and and CC cord-014712-5u4e00q6 1576 39 IgG3 IgG3 NNP cord-014712-5u4e00q6 1576 40 ) ) -RRB- cord-014712-5u4e00q6 1576 41 . . . cord-014712-5u4e00q6 1577 1 Flow flow NN cord-014712-5u4e00q6 1577 2 cytometry cytometry NN cord-014712-5u4e00q6 1577 3 showed show VBD cord-014712-5u4e00q6 1577 4 slightly slightly RB cord-014712-5u4e00q6 1577 5 raised raise VBN cord-014712-5u4e00q6 1577 6 concentration concentration NN cord-014712-5u4e00q6 1577 7 of of IN cord-014712-5u4e00q6 1577 8 lymphocites lymphocite NNS cord-014712-5u4e00q6 1577 9 B B NNP cord-014712-5u4e00q6 1577 10 ( ( -LRB- cord-014712-5u4e00q6 1577 11 CD8 CD8 NNP cord-014712-5u4e00q6 1577 12 ) ) -RRB- cord-014712-5u4e00q6 1577 13 , , , cord-014712-5u4e00q6 1577 14 slightly slightly RB cord-014712-5u4e00q6 1577 15 raised raise VBN cord-014712-5u4e00q6 1577 16 number number NN cord-014712-5u4e00q6 1577 17 of of IN cord-014712-5u4e00q6 1577 18 nondifferentiated nondifferentiate VBN cord-014712-5u4e00q6 1577 19 B B NNP cord-014712-5u4e00q6 1577 20 cells cell NNS cord-014712-5u4e00q6 1577 21 . . . cord-014712-5u4e00q6 1578 1 CVID CVID NNP cord-014712-5u4e00q6 1578 2 was be VBD cord-014712-5u4e00q6 1578 3 suspected suspect VBN cord-014712-5u4e00q6 1578 4 but but CC cord-014712-5u4e00q6 1578 5 not not RB cord-014712-5u4e00q6 1578 6 proved prove VBN cord-014712-5u4e00q6 1578 7 . . . cord-014712-5u4e00q6 1579 1 In in IN cord-014712-5u4e00q6 1579 2 July July NNP cord-014712-5u4e00q6 1579 3 2012 2012 CD cord-014712-5u4e00q6 1579 4 child child NN cord-014712-5u4e00q6 1579 5 visited visit VBD cord-014712-5u4e00q6 1579 6 center center NN cord-014712-5u4e00q6 1579 7 for for IN cord-014712-5u4e00q6 1579 8 primary primary JJ cord-014712-5u4e00q6 1579 9 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 1579 10 in in IN cord-014712-5u4e00q6 1579 11 Munchen Munchen NNP cord-014712-5u4e00q6 1579 12 , , , cord-014712-5u4e00q6 1579 13 Germany Germany NNP cord-014712-5u4e00q6 1579 14 , , , cord-014712-5u4e00q6 1579 15 were be VBD cord-014712-5u4e00q6 1579 16 he -PRON- PRP cord-014712-5u4e00q6 1579 17 was be VBD cord-014712-5u4e00q6 1579 18 diagnosed diagnose VBN cord-014712-5u4e00q6 1579 19 ad ad NN cord-014712-5u4e00q6 1579 20 probable probable JJ cord-014712-5u4e00q6 1579 21 CVID CVID NNP cord-014712-5u4e00q6 1579 22 on on IN cord-014712-5u4e00q6 1579 23 the the DT cord-014712-5u4e00q6 1579 24 basis basis NN cord-014712-5u4e00q6 1579 25 of of IN cord-014712-5u4e00q6 1579 26 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 1579 27 , , , cord-014712-5u4e00q6 1579 28 lower low JJR cord-014712-5u4e00q6 1579 29 levels level NNS cord-014712-5u4e00q6 1579 30 od od LS cord-014712-5u4e00q6 1579 31 switch switch VBP cord-014712-5u4e00q6 1579 32 memory memory NN cord-014712-5u4e00q6 1579 33 B b NN cord-014712-5u4e00q6 1579 34 cells cell NNS cord-014712-5u4e00q6 1579 35 , , , cord-014712-5u4e00q6 1579 36 normal normal JJ cord-014712-5u4e00q6 1579 37 number number NN cord-014712-5u4e00q6 1579 38 of of IN cord-014712-5u4e00q6 1579 39 T t NN cord-014712-5u4e00q6 1579 40 - - HYPH cord-014712-5u4e00q6 1579 41 cells cell NNS cord-014712-5u4e00q6 1579 42 , , , cord-014712-5u4e00q6 1579 43 positive positive JJ cord-014712-5u4e00q6 1579 44 antibodies antibody NNS cord-014712-5u4e00q6 1579 45 to to IN cord-014712-5u4e00q6 1579 46 vaccinations vaccination NNS cord-014712-5u4e00q6 1579 47 and and CC cord-014712-5u4e00q6 1579 48 overcome overcome VB cord-014712-5u4e00q6 1579 49 infection infection NN cord-014712-5u4e00q6 1579 50 ( ( -LRB- cord-014712-5u4e00q6 1579 51 morbilli morbilli NNP cord-014712-5u4e00q6 1579 52 , , , cord-014712-5u4e00q6 1579 53 varicellae varicellae NNP cord-014712-5u4e00q6 1579 54 ) ) -RRB- cord-014712-5u4e00q6 1579 55 . . . cord-014712-5u4e00q6 1580 1 Allergic allergic JJ cord-014712-5u4e00q6 1580 2 asthma asthma NN cord-014712-5u4e00q6 1580 3 was be VBD cord-014712-5u4e00q6 1580 4 additionaly additionaly NNS cord-014712-5u4e00q6 1580 5 confirmed confirm VBN cord-014712-5u4e00q6 1580 6 in in IN cord-014712-5u4e00q6 1580 7 specialised specialised JJ cord-014712-5u4e00q6 1580 8 pediatric pediatric NNP cord-014712-5u4e00q6 1580 9 pulmology pulmology NNP cord-014712-5u4e00q6 1580 10 hospital hospital NN cord-014712-5u4e00q6 1580 11 in in IN cord-014712-5u4e00q6 1580 12 Germany Germany NNP cord-014712-5u4e00q6 1580 13 ( ( -LRB- cord-014712-5u4e00q6 1580 14 abnormal abnormal JJ cord-014712-5u4e00q6 1580 15 spirometry spirometry NN cord-014712-5u4e00q6 1580 16 , , , cord-014712-5u4e00q6 1580 17 normal normal JJ cord-014712-5u4e00q6 1580 18 IgE IgE NNP cord-014712-5u4e00q6 1580 19 , , , cord-014712-5u4e00q6 1580 20 positive positive JJ cord-014712-5u4e00q6 1580 21 skin skin NN cord-014712-5u4e00q6 1580 22 prick prick NN cord-014712-5u4e00q6 1580 23 test test NN cord-014712-5u4e00q6 1580 24 , , , cord-014712-5u4e00q6 1580 25 abnormal abnormal JJ cord-014712-5u4e00q6 1580 26 fractional fractional JJ cord-014712-5u4e00q6 1580 27 exaled exaled JJ cord-014712-5u4e00q6 1580 28 nitric nitric JJ cord-014712-5u4e00q6 1580 29 oxid oxid NN cord-014712-5u4e00q6 1580 30 test test NN cord-014712-5u4e00q6 1580 31 , , , cord-014712-5u4e00q6 1580 32 incipient incipient JJ cord-014712-5u4e00q6 1580 33 brochiectasies brochiectasie NNS cord-014712-5u4e00q6 1580 34 due due IN cord-014712-5u4e00q6 1580 35 to to IN cord-014712-5u4e00q6 1580 36 asthma asthma NN cord-014712-5u4e00q6 1580 37 confirmed confirm VBN cord-014712-5u4e00q6 1580 38 by by IN cord-014712-5u4e00q6 1580 39 high high JJ cord-014712-5u4e00q6 1580 40 -resolution -resolution HYPH cord-014712-5u4e00q6 1580 41 lung lung NN cord-014712-5u4e00q6 1580 42 CT CT NNP cord-014712-5u4e00q6 1580 43 scan scan NN cord-014712-5u4e00q6 1580 44 ) ) -RRB- cord-014712-5u4e00q6 1580 45 . . . cord-014712-5u4e00q6 1581 1 Low low JJ cord-014712-5u4e00q6 1581 2 human human JJ cord-014712-5u4e00q6 1581 3 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1581 4 replacement replacement NN cord-014712-5u4e00q6 1581 5 was be VBD cord-014712-5u4e00q6 1581 6 started start VBN cord-014712-5u4e00q6 1581 7 ( ( -LRB- cord-014712-5u4e00q6 1581 8 200 200 CD cord-014712-5u4e00q6 1581 9 mg mg NNP cord-014712-5u4e00q6 1581 10 / / SYM cord-014712-5u4e00q6 1581 11 kgBW kgBW NNP cord-014712-5u4e00q6 1581 12 ) ) -RRB- cord-014712-5u4e00q6 1581 13 as as RB cord-014712-5u4e00q6 1581 14 well well RB cord-014712-5u4e00q6 1581 15 as as IN cord-014712-5u4e00q6 1581 16 antiasthmatic antiasthmatic JJ cord-014712-5u4e00q6 1581 17 therapy therapy NN cord-014712-5u4e00q6 1582 1 ( ( -LRB- cord-014712-5u4e00q6 1582 2 inhalatory inhalatory NNP cord-014712-5u4e00q6 1582 3 steroids steroid NNS cord-014712-5u4e00q6 1582 4 , , , cord-014712-5u4e00q6 1582 5 antihistaminics antihistaminic NNS cord-014712-5u4e00q6 1582 6 ) ) -RRB- cord-014712-5u4e00q6 1582 7 . . . cord-014712-5u4e00q6 1583 1 Excellent excellent JJ cord-014712-5u4e00q6 1583 2 therapeutical therapeutical JJ cord-014712-5u4e00q6 1583 3 response response NN cord-014712-5u4e00q6 1583 4 were be VBD cord-014712-5u4e00q6 1583 5 achieved achieve VBN cord-014712-5u4e00q6 1583 6 : : : cord-014712-5u4e00q6 1583 7 after after IN cord-014712-5u4e00q6 1583 8 one one CD cord-014712-5u4e00q6 1583 9 1,5 1,5 CD cord-014712-5u4e00q6 1583 10 y y NN cord-014712-5u4e00q6 1583 11 follow follow VBP cord-014712-5u4e00q6 1583 12 up up RP cord-014712-5u4e00q6 1583 13 , , , cord-014712-5u4e00q6 1583 14 we -PRON- PRP cord-014712-5u4e00q6 1583 15 can can MD cord-014712-5u4e00q6 1583 16 confirm confirm VB cord-014712-5u4e00q6 1583 17 patient patient JJ cord-014712-5u4e00q6 1583 18 has have VBZ cord-014712-5u4e00q6 1583 19 excellent excellent JJ cord-014712-5u4e00q6 1583 20 general general JJ cord-014712-5u4e00q6 1583 21 condition condition NN cord-014712-5u4e00q6 1583 22 , , , cord-014712-5u4e00q6 1583 23 no no DT cord-014712-5u4e00q6 1583 24 subjective subjective JJ cord-014712-5u4e00q6 1583 25 symptoms symptom NNS cord-014712-5u4e00q6 1583 26 , , . cord-014712-5u4e00q6 1584 1 no no DT cord-014712-5u4e00q6 1584 2 tiredness tiredness NN cord-014712-5u4e00q6 1584 3 , , , cord-014712-5u4e00q6 1584 4 no no DT cord-014712-5u4e00q6 1584 5 severe severe JJ cord-014712-5u4e00q6 1584 6 infections infection NNS cord-014712-5u4e00q6 1584 7 . . . cord-014712-5u4e00q6 1585 1 Conclusion conclusion NN cord-014712-5u4e00q6 1585 2 : : : cord-014712-5u4e00q6 1585 3 Diagnosing diagnose VBG cord-014712-5u4e00q6 1585 4 CVID CVID NNP cord-014712-5u4e00q6 1585 5 is be VBZ cord-014712-5u4e00q6 1585 6 challenging challenge VBG cord-014712-5u4e00q6 1585 7 task task NN cord-014712-5u4e00q6 1585 8 and and CC cord-014712-5u4e00q6 1585 9 quite quite RB cord-014712-5u4e00q6 1585 10 often often RB cord-014712-5u4e00q6 1585 11 could could MD cord-014712-5u4e00q6 1585 12 be be VB cord-014712-5u4e00q6 1585 13 " " `` cord-014712-5u4e00q6 1585 14 per per FW cord-014712-5u4e00q6 1585 15 aspera aspera FW cord-014712-5u4e00q6 1585 16 ad ad FW cord-014712-5u4e00q6 1585 17 astra astra NN cord-014712-5u4e00q6 1585 18 " " '' cord-014712-5u4e00q6 1585 19 . . . cord-014712-5u4e00q6 1586 1 There there EX cord-014712-5u4e00q6 1586 2 is be VBZ cord-014712-5u4e00q6 1586 3 ultimate ultimate JJ cord-014712-5u4e00q6 1586 4 need need NN cord-014712-5u4e00q6 1586 5 of of IN cord-014712-5u4e00q6 1586 6 collaborative collaborative JJ cord-014712-5u4e00q6 1586 7 work work NN cord-014712-5u4e00q6 1586 8 of of IN cord-014712-5u4e00q6 1586 9 primary primary JJ cord-014712-5u4e00q6 1586 10 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1586 11 network network NN cord-014712-5u4e00q6 1586 12 aimed aim VBN cord-014712-5u4e00q6 1586 13 of of IN cord-014712-5u4e00q6 1586 14 diagnosing diagnose VBG cord-014712-5u4e00q6 1586 15 patients patient NNS cord-014712-5u4e00q6 1586 16 on on IN cord-014712-5u4e00q6 1586 17 time time NN cord-014712-5u4e00q6 1586 18 . . . cord-014712-5u4e00q6 1587 1 CVID CVID NNP cord-014712-5u4e00q6 1587 2 patients patient NNS cord-014712-5u4e00q6 1587 3 with with IN cord-014712-5u4e00q6 1587 4 history history NN cord-014712-5u4e00q6 1587 5 suggestive suggestive JJ cord-014712-5u4e00q6 1587 6 of of IN cord-014712-5u4e00q6 1587 7 allergic allergic JJ cord-014712-5u4e00q6 1587 8 asthma asthma NN cord-014712-5u4e00q6 1587 9 , , , cord-014712-5u4e00q6 1587 10 are be VBP cord-014712-5u4e00q6 1587 11 negativne negativne NNP cord-014712-5u4e00q6 1587 12 on on IN cord-014712-5u4e00q6 1587 13 traditional traditional JJ cord-014712-5u4e00q6 1587 14 tests test NNS cord-014712-5u4e00q6 1587 15 , , , cord-014712-5u4e00q6 1587 16 additional additional JJ cord-014712-5u4e00q6 1587 17 test test NN cord-014712-5u4e00q6 1587 18 designed design VBN cord-014712-5u4e00q6 1587 19 to to TO cord-014712-5u4e00q6 1587 20 identify identify VB cord-014712-5u4e00q6 1587 21 allergic allergic JJ cord-014712-5u4e00q6 1587 22 asthma asthma NN cord-014712-5u4e00q6 1587 23 might may MD cord-014712-5u4e00q6 1587 24 be be VB cord-014712-5u4e00q6 1587 25 conducted conduct VBN cord-014712-5u4e00q6 1587 26 . . . cord-014712-5u4e00q6 1588 1 Common common JJ cord-014712-5u4e00q6 1588 2 variable variable JJ cord-014712-5u4e00q6 1588 3 immune immune JJ cord-014712-5u4e00q6 1588 4 deficiency deficiency NN cord-014712-5u4e00q6 1588 5 ( ( -LRB- cord-014712-5u4e00q6 1588 6 CVID CVID NNP cord-014712-5u4e00q6 1588 7 ) ) -RRB- cord-014712-5u4e00q6 1588 8 is be VBZ cord-014712-5u4e00q6 1588 9 a a DT cord-014712-5u4e00q6 1588 10 heterogeneous heterogeneous JJ cord-014712-5u4e00q6 1588 11 syndrome syndrome NN cord-014712-5u4e00q6 1588 12 characterized characterize VBN cord-014712-5u4e00q6 1588 13 by by IN cord-014712-5u4e00q6 1588 14 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 1588 15 , , , cord-014712-5u4e00q6 1588 16 recurrent recurrent JJ cord-014712-5u4e00q6 1588 17 infections infection NNS cord-014712-5u4e00q6 1588 18 , , , cord-014712-5u4e00q6 1588 19 immune immune JJ cord-014712-5u4e00q6 1588 20 disregularity disregularity NN cord-014712-5u4e00q6 1588 21 ( ( -LRB- cord-014712-5u4e00q6 1588 22 autoimmunity autoimmunity NN cord-014712-5u4e00q6 1588 23 , , , cord-014712-5u4e00q6 1588 24 autoinflamation autoinflamation NN cord-014712-5u4e00q6 1588 25 ) ) -RRB- cord-014712-5u4e00q6 1588 26 and and CC cord-014712-5u4e00q6 1588 27 propensity propensity NN cord-014712-5u4e00q6 1588 28 to to IN cord-014712-5u4e00q6 1588 29 malignancies malignancy NNS cord-014712-5u4e00q6 1588 30 . . . cord-014712-5u4e00q6 1589 1 In in IN cord-014712-5u4e00q6 1589 2 the the DT cord-014712-5u4e00q6 1589 3 US US NNP cord-014712-5u4e00q6 1589 4 report report NN cord-014712-5u4e00q6 1589 5 , , , cord-014712-5u4e00q6 1589 6 8.2 8.2 CD cord-014712-5u4e00q6 1589 7 % % NN cord-014712-5u4e00q6 1589 8 of of IN cord-014712-5u4e00q6 1589 9 CVID CVID NNP cord-014712-5u4e00q6 1589 10 patients patient NNS cord-014712-5u4e00q6 1589 11 had have VBD cord-014712-5u4e00q6 1589 12 a a DT cord-014712-5u4e00q6 1589 13 lymphoid lymphoid JJ cord-014712-5u4e00q6 1589 14 malignancy malignancy NN cord-014712-5u4e00q6 1589 15 , , , cord-014712-5u4e00q6 1589 16 and and CC cord-014712-5u4e00q6 1589 17 cancers cancer NNS cord-014712-5u4e00q6 1589 18 of of IN cord-014712-5u4e00q6 1589 19 other other JJ cord-014712-5u4e00q6 1589 20 sorts sort NNS cord-014712-5u4e00q6 1589 21 developed develop VBN cord-014712-5u4e00q6 1589 22 in in IN cord-014712-5u4e00q6 1589 23 7 7 CD cord-014712-5u4e00q6 1589 24 % % NN cord-014712-5u4e00q6 1589 25 of of IN cord-014712-5u4e00q6 1589 26 patients patient NNS cord-014712-5u4e00q6 1589 27 . . . cord-014712-5u4e00q6 1590 1 It -PRON- PRP cord-014712-5u4e00q6 1590 2 is be VBZ cord-014712-5u4e00q6 1590 3 not not RB cord-014712-5u4e00q6 1590 4 clear clear JJ cord-014712-5u4e00q6 1590 5 why why WRB cord-014712-5u4e00q6 1590 6 CVID CVID NNP cord-014712-5u4e00q6 1590 7 patients patient NNS cord-014712-5u4e00q6 1590 8 have have VBP cord-014712-5u4e00q6 1590 9 higher high JJR cord-014712-5u4e00q6 1590 10 risk risk NN cord-014712-5u4e00q6 1590 11 of of IN cord-014712-5u4e00q6 1590 12 malignancy malignancy NN cord-014712-5u4e00q6 1590 13 but but CC cord-014712-5u4e00q6 1590 14 chronic chronic JJ cord-014712-5u4e00q6 1590 15 antigenic antigenic JJ cord-014712-5u4e00q6 1590 16 stimulation stimulation NN cord-014712-5u4e00q6 1590 17 , , , cord-014712-5u4e00q6 1590 18 chronic chronic JJ cord-014712-5u4e00q6 1590 19 inflammation inflammation NN cord-014712-5u4e00q6 1590 20 and and CC cord-014712-5u4e00q6 1590 21 increased increase VBN cord-014712-5u4e00q6 1590 22 chromosomal chromosomal JJ cord-014712-5u4e00q6 1590 23 radiosensitivity radiosensitivity NN cord-014712-5u4e00q6 1590 24 may may MD cord-014712-5u4e00q6 1590 25 be be VB cord-014712-5u4e00q6 1590 26 the the DT cord-014712-5u4e00q6 1590 27 cause cause NN cord-014712-5u4e00q6 1590 28 . . . cord-014712-5u4e00q6 1591 1 CVID CVID NNP cord-014712-5u4e00q6 1591 2 patients patient NNS cord-014712-5u4e00q6 1591 3 with with IN cord-014712-5u4e00q6 1591 4 higher high JJR cord-014712-5u4e00q6 1591 5 IgM IgM NNP cord-014712-5u4e00q6 1591 6 level level NN cord-014712-5u4e00q6 1591 7 , , , cord-014712-5u4e00q6 1591 8 reduced reduced JJ cord-014712-5u4e00q6 1591 9 or or CC cord-014712-5u4e00q6 1591 10 absent absent JJ cord-014712-5u4e00q6 1591 11 B b NN cord-014712-5u4e00q6 1591 12 cell cell NN cord-014712-5u4e00q6 1591 13 numbers number NNS cord-014712-5u4e00q6 1591 14 , , , cord-014712-5u4e00q6 1591 15 CD4 CD4 NNP cord-014712-5u4e00q6 1591 16 T T NNP cord-014712-5u4e00q6 1591 17 cells cell NNS cord-014712-5u4e00q6 1591 18 lower low JJR cord-014712-5u4e00q6 1591 19 than than IN cord-014712-5u4e00q6 1591 20 200 200 CD cord-014712-5u4e00q6 1591 21 and and CC cord-014712-5u4e00q6 1591 22 PLI pli NN cord-014712-5u4e00q6 1591 23 phenotype phenotype NN cord-014712-5u4e00q6 1591 24 have have VBP cord-014712-5u4e00q6 1591 25 higher high JJR cord-014712-5u4e00q6 1591 26 prevalence prevalence NN cord-014712-5u4e00q6 1591 27 of of IN cord-014712-5u4e00q6 1591 28 malignancy malignancy NN cord-014712-5u4e00q6 1591 29 . . . cord-014712-5u4e00q6 1592 1 Allergy allergy NN cord-014712-5u4e00q6 1592 2 and and CC cord-014712-5u4e00q6 1592 3 clinical clinical JJ cord-014712-5u4e00q6 1592 4 immunology immunology NN cord-014712-5u4e00q6 1592 5 department department NN cord-014712-5u4e00q6 1592 6 of of IN cord-014712-5u4e00q6 1592 7 Rasool Rasool NNP cord-014712-5u4e00q6 1592 8 E E NNP cord-014712-5u4e00q6 1592 9 Akram Akram NNP cord-014712-5u4e00q6 1592 10 hospital hospital NN cord-014712-5u4e00q6 1592 11 has have VBZ cord-014712-5u4e00q6 1592 12 registered register VBN cord-014712-5u4e00q6 1592 13 47 47 CD cord-014712-5u4e00q6 1592 14 CVID CVID NNP cord-014712-5u4e00q6 1592 15 patients patient NNS cord-014712-5u4e00q6 1592 16 . . . cord-014712-5u4e00q6 1593 1 Mean mean JJ cord-014712-5u4e00q6 1593 2 age age NN cord-014712-5u4e00q6 1593 3 of of IN cord-014712-5u4e00q6 1593 4 the the DT cord-014712-5u4e00q6 1593 5 onset onset NN cord-014712-5u4e00q6 1593 6 of of IN cord-014712-5u4e00q6 1593 7 CVID CVID NNP cord-014712-5u4e00q6 1593 8 symptoms symptom NNS cord-014712-5u4e00q6 1593 9 was be VBD cord-014712-5u4e00q6 1593 10 11.2 11.2 CD cord-014712-5u4e00q6 1593 11 years year NNS cord-014712-5u4e00q6 1593 12 . . . cord-014712-5u4e00q6 1594 1 Mean mean JJ cord-014712-5u4e00q6 1594 2 diagnosis diagnosis NN cord-014712-5u4e00q6 1594 3 age age NN cord-014712-5u4e00q6 1594 4 was be VBD cord-014712-5u4e00q6 1594 5 20.2 20.2 CD cord-014712-5u4e00q6 1594 6 years year NNS cord-014712-5u4e00q6 1594 7 with with IN cord-014712-5u4e00q6 1594 8 mean mean JJ cord-014712-5u4e00q6 1594 9 diagnostic diagnostic JJ cord-014712-5u4e00q6 1594 10 delay delay NN cord-014712-5u4e00q6 1594 11 of of IN cord-014712-5u4e00q6 1594 12 9 9 CD cord-014712-5u4e00q6 1594 13 years year NNS cord-014712-5u4e00q6 1594 14 . . . cord-014712-5u4e00q6 1595 1 Mean mean VB cord-014712-5u4e00q6 1595 2 follow follow VB cord-014712-5u4e00q6 1595 3 up up RP cord-014712-5u4e00q6 1595 4 time time NN cord-014712-5u4e00q6 1595 5 was be VBD cord-014712-5u4e00q6 1595 6 7 7 CD cord-014712-5u4e00q6 1595 7 years year NNS cord-014712-5u4e00q6 1595 8 ( ( -LRB- cord-014712-5u4e00q6 1595 9 minimum minimum JJ cord-014712-5u4e00q6 1595 10 0.5-maximum 0.5-maximum CD cord-014712-5u4e00q6 1595 11 23 23 CD cord-014712-5u4e00q6 1595 12 y y NNP cord-014712-5u4e00q6 1595 13 ) ) -RRB- cord-014712-5u4e00q6 1595 14 . . . cord-014712-5u4e00q6 1596 1 Malignancy malignancy NN cord-014712-5u4e00q6 1596 2 occurred occur VBD cord-014712-5u4e00q6 1596 3 in in IN cord-014712-5u4e00q6 1596 4 the the DT cord-014712-5u4e00q6 1596 5 follow follow NN cord-014712-5u4e00q6 1596 6 up up IN cord-014712-5u4e00q6 1596 7 of of IN cord-014712-5u4e00q6 1596 8 6 6 CD cord-014712-5u4e00q6 1596 9 patients patient NNS cord-014712-5u4e00q6 1596 10 ( ( -LRB- cord-014712-5u4e00q6 1596 11 13 13 CD cord-014712-5u4e00q6 1596 12 % % NN cord-014712-5u4e00q6 1596 13 ) ) -RRB- cord-014712-5u4e00q6 1596 14 . . . cord-014712-5u4e00q6 1597 1 One one CD cord-014712-5u4e00q6 1597 2 patient patient NN cord-014712-5u4e00q6 1597 3 had have VBD cord-014712-5u4e00q6 1597 4 two two CD cord-014712-5u4e00q6 1597 5 different different JJ cord-014712-5u4e00q6 1597 6 malignancies malignancy NNS cord-014712-5u4e00q6 1597 7 ( ( -LRB- cord-014712-5u4e00q6 1597 8 breast breast NN cord-014712-5u4e00q6 1597 9 cancer cancer NN cord-014712-5u4e00q6 1597 10 and and CC cord-014712-5u4e00q6 1597 11 GI GI NNP cord-014712-5u4e00q6 1597 12 adenocarcinoma adenocarcinoma NN cord-014712-5u4e00q6 1597 13 ) ) -RRB- cord-014712-5u4e00q6 1597 14 . . . cord-014712-5u4e00q6 1598 1 Malignancy malignancy NN cord-014712-5u4e00q6 1598 2 risk risk NN cord-014712-5u4e00q6 1598 3 per per IN cord-014712-5u4e00q6 1598 4 case case NN cord-014712-5u4e00q6 1598 5 was be VBD cord-014712-5u4e00q6 1598 6 15 15 CD cord-014712-5u4e00q6 1598 7 % % NN cord-014712-5u4e00q6 1598 8 . . . cord-014712-5u4e00q6 1599 1 Hodgkin Hodgkin NNP cord-014712-5u4e00q6 1599 2 's 's POS cord-014712-5u4e00q6 1599 3 lymphoma lymphoma NN cord-014712-5u4e00q6 1599 4 was be VBD cord-014712-5u4e00q6 1599 5 the the DT cord-014712-5u4e00q6 1599 6 most most RBS cord-014712-5u4e00q6 1599 7 common common JJ cord-014712-5u4e00q6 1599 8 type type NN cord-014712-5u4e00q6 1599 9 ( ( -LRB- cord-014712-5u4e00q6 1599 10 43 43 CD cord-014712-5u4e00q6 1599 11 % % NN cord-014712-5u4e00q6 1599 12 of of IN cord-014712-5u4e00q6 1599 13 cancers cancer NNS cord-014712-5u4e00q6 1599 14 Common common JJ cord-014712-5u4e00q6 1599 15 variable variable JJ cord-014712-5u4e00q6 1599 16 immune immune JJ cord-014712-5u4e00q6 1599 17 deficiency deficiency NN cord-014712-5u4e00q6 1599 18 is be VBZ cord-014712-5u4e00q6 1599 19 a a DT cord-014712-5u4e00q6 1599 20 heterogeneous heterogeneous JJ cord-014712-5u4e00q6 1599 21 syndrome syndrome NN cord-014712-5u4e00q6 1599 22 characterized characterize VBN cord-014712-5u4e00q6 1599 23 by by IN cord-014712-5u4e00q6 1599 24 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 1599 25 , , , cord-014712-5u4e00q6 1599 26 recurrent recurrent JJ cord-014712-5u4e00q6 1599 27 infections infection NNS cord-014712-5u4e00q6 1599 28 , , , cord-014712-5u4e00q6 1599 29 auto auto NN cord-014712-5u4e00q6 1599 30 immunity immunity NN cord-014712-5u4e00q6 1599 31 and and CC cord-014712-5u4e00q6 1599 32 auto auto NN cord-014712-5u4e00q6 1599 33 - - HYPH cord-014712-5u4e00q6 1599 34 inflammation inflammation NN cord-014712-5u4e00q6 1599 35 . . . cord-014712-5u4e00q6 1600 1 More More JJR cord-014712-5u4e00q6 1600 2 than than IN cord-014712-5u4e00q6 1600 3 25 25 CD cord-014712-5u4e00q6 1600 4 % % NN cord-014712-5u4e00q6 1600 5 of of IN cord-014712-5u4e00q6 1600 6 CVID CVID NNP cord-014712-5u4e00q6 1600 7 patients patient NNS cord-014712-5u4e00q6 1600 8 have have VBP cord-014712-5u4e00q6 1600 9 auto auto NN cord-014712-5u4e00q6 1600 10 immune immune JJ cord-014712-5u4e00q6 1600 11 complications complication NNS cord-014712-5u4e00q6 1600 12 and and CC cord-014712-5u4e00q6 1600 13 among among IN cord-014712-5u4e00q6 1600 14 them -PRON- PRP cord-014712-5u4e00q6 1600 15 , , , cord-014712-5u4e00q6 1600 16 auto auto NN cord-014712-5u4e00q6 1600 17 immune immune NN cord-014712-5u4e00q6 1600 18 cytopenia cytopenia NNP cord-014712-5u4e00q6 1600 19 is be VBZ cord-014712-5u4e00q6 1600 20 the the DT cord-014712-5u4e00q6 1600 21 most most RBS cord-014712-5u4e00q6 1600 22 common common JJ cord-014712-5u4e00q6 1600 23 . . . cord-014712-5u4e00q6 1601 1 CVID CVID NNP cord-014712-5u4e00q6 1601 2 patients patient NNS cord-014712-5u4e00q6 1601 3 with with IN cord-014712-5u4e00q6 1601 4 higher high JJR cord-014712-5u4e00q6 1601 5 IgM IgM NNP cord-014712-5u4e00q6 1601 6 levelhigher levelhigher CC cord-014712-5u4e00q6 1601 7 21 21 CD cord-014712-5u4e00q6 1601 8 low low JJ cord-014712-5u4e00q6 1601 9 B b NN cord-014712-5u4e00q6 1601 10 Cellslower Cellslower NNP cord-014712-5u4e00q6 1601 11 T t NN cord-014712-5u4e00q6 1601 12 reg reg NN cord-014712-5u4e00q6 1601 13 levelslower levelslower NN cord-014712-5u4e00q6 1601 14 CD4 CD4 NNP cord-014712-5u4e00q6 1601 15 / / SYM cord-014712-5u4e00q6 1601 16 CD8 CD8 NNP cord-014712-5u4e00q6 1601 17 ratio ratio NN cord-014712-5u4e00q6 1601 18 and and CC cord-014712-5u4e00q6 1601 19 lower low JJR cord-014712-5u4e00q6 1601 20 class class NN cord-014712-5u4e00q6 1601 21 switched switch VBD cord-014712-5u4e00q6 1601 22 memory memory NN cord-014712-5u4e00q6 1601 23 B b NN cord-014712-5u4e00q6 1601 24 cells cell NNS cord-014712-5u4e00q6 1601 25 have have VBP cord-014712-5u4e00q6 1601 26 higher high JJR cord-014712-5u4e00q6 1601 27 prevalence prevalence NN cord-014712-5u4e00q6 1601 28 of of IN cord-014712-5u4e00q6 1601 29 autoimmunity autoimmunity NN cord-014712-5u4e00q6 1601 30 . . . cord-014712-5u4e00q6 1602 1 Allergy allergy NN cord-014712-5u4e00q6 1602 2 and and CC cord-014712-5u4e00q6 1602 3 clinical clinical JJ cord-014712-5u4e00q6 1602 4 immunology immunology NN cord-014712-5u4e00q6 1602 5 department department NN cord-014712-5u4e00q6 1602 6 of of IN cord-014712-5u4e00q6 1602 7 this this DT cord-014712-5u4e00q6 1602 8 hospital hospital NN cord-014712-5u4e00q6 1602 9 has have VBZ cord-014712-5u4e00q6 1602 10 registered register VBN cord-014712-5u4e00q6 1602 11 47 47 CD cord-014712-5u4e00q6 1602 12 CVID CVID NNP cord-014712-5u4e00q6 1602 13 patients patient NNS cord-014712-5u4e00q6 1602 14 . . . cord-014712-5u4e00q6 1603 1 Mean mean JJ cord-014712-5u4e00q6 1603 2 age age NN cord-014712-5u4e00q6 1603 3 of of IN cord-014712-5u4e00q6 1603 4 onset onset NN cord-014712-5u4e00q6 1603 5 of of IN cord-014712-5u4e00q6 1603 6 CVID CVID NNP cord-014712-5u4e00q6 1603 7 symptoms symptom NNS cord-014712-5u4e00q6 1603 8 was be VBD cord-014712-5u4e00q6 1603 9 11.2 11.2 CD cord-014712-5u4e00q6 1603 10 years year NNS cord-014712-5u4e00q6 1603 11 . . . cord-014712-5u4e00q6 1604 1 Mean mean JJ cord-014712-5u4e00q6 1604 2 diagnosis diagnosis NN cord-014712-5u4e00q6 1604 3 age age NN cord-014712-5u4e00q6 1604 4 was be VBD cord-014712-5u4e00q6 1604 5 20.2 20.2 CD cord-014712-5u4e00q6 1604 6 years year NNS cord-014712-5u4e00q6 1604 7 with with IN cord-014712-5u4e00q6 1604 8 mean mean JJ cord-014712-5u4e00q6 1604 9 diagnostic diagnostic JJ cord-014712-5u4e00q6 1604 10 delay delay NN cord-014712-5u4e00q6 1604 11 of of IN cord-014712-5u4e00q6 1604 12 9 9 CD cord-014712-5u4e00q6 1604 13 years year NNS cord-014712-5u4e00q6 1604 14 . . . cord-014712-5u4e00q6 1605 1 Mean mean VB cord-014712-5u4e00q6 1605 2 follow follow VB cord-014712-5u4e00q6 1605 3 up up RP cord-014712-5u4e00q6 1605 4 time time NN cord-014712-5u4e00q6 1605 5 was be VBD cord-014712-5u4e00q6 1605 6 7 7 CD cord-014712-5u4e00q6 1605 7 years year NNS cord-014712-5u4e00q6 1605 8 ( ( -LRB- cord-014712-5u4e00q6 1605 9 minimum minimum VBP cord-014712-5u4e00q6 1605 10 0.5 0.5 CD cord-014712-5u4e00q6 1605 11 maximum maximum NN cord-014712-5u4e00q6 1605 12 23 23 CD cord-014712-5u4e00q6 1605 13 y y NN cord-014712-5u4e00q6 1605 14 ) ) -RRB- cord-014712-5u4e00q6 1605 15 . . . cord-014712-5u4e00q6 1606 1 Autoimmunity Autoimmunity NNP cord-014712-5u4e00q6 1606 2 was be VBD cord-014712-5u4e00q6 1606 3 detected detect VBN cord-014712-5u4e00q6 1606 4 in in IN cord-014712-5u4e00q6 1606 5 23 23 CD cord-014712-5u4e00q6 1606 6 cases case NNS cord-014712-5u4e00q6 1606 7 ( ( -LRB- cord-014712-5u4e00q6 1606 8 49 49 CD cord-014712-5u4e00q6 1606 9 % % NN cord-014712-5u4e00q6 1606 10 ) ) -RRB- cord-014712-5u4e00q6 1606 11 and and CC cord-014712-5u4e00q6 1606 12 12 12 CD cord-014712-5u4e00q6 1606 13 cases case NNS cord-014712-5u4e00q6 1606 14 ( ( -LRB- cord-014712-5u4e00q6 1606 15 26 26 CD cord-014712-5u4e00q6 1606 16 % % NN cord-014712-5u4e00q6 1606 17 ) ) -RRB- cord-014712-5u4e00q6 1606 18 had have VBD cord-014712-5u4e00q6 1606 19 more more JJR cord-014712-5u4e00q6 1606 20 than than IN cord-014712-5u4e00q6 1606 21 one one CD cord-014712-5u4e00q6 1606 22 autoimmunity autoimmunity NN cord-014712-5u4e00q6 1606 23 . . . cord-014712-5u4e00q6 1607 1 Autoimmunity Autoimmunity NNP cord-014712-5u4e00q6 1607 2 was be VBD cord-014712-5u4e00q6 1607 3 the the DT cord-014712-5u4e00q6 1607 4 first first JJ cord-014712-5u4e00q6 1607 5 symptom symptom NN cord-014712-5u4e00q6 1607 6 of of IN cord-014712-5u4e00q6 1607 7 CVID CVID NNP cord-014712-5u4e00q6 1607 8 in in IN cord-014712-5u4e00q6 1607 9 15 15 CD cord-014712-5u4e00q6 1607 10 percent percent NN cord-014712-5u4e00q6 1607 11 of of IN cord-014712-5u4e00q6 1607 12 cases case NNS cord-014712-5u4e00q6 1607 13 . . . cord-014712-5u4e00q6 1608 1 Autoimmune autoimmune JJ cord-014712-5u4e00q6 1608 2 disorders disorder NNS cord-014712-5u4e00q6 1608 3 should should MD cord-014712-5u4e00q6 1608 4 be be VB cord-014712-5u4e00q6 1608 5 considered consider VBN cord-014712-5u4e00q6 1608 6 in in IN cord-014712-5u4e00q6 1608 7 the the DT cord-014712-5u4e00q6 1608 8 follow follow NN cord-014712-5u4e00q6 1608 9 up up IN cord-014712-5u4e00q6 1608 10 of of IN cord-014712-5u4e00q6 1608 11 CVID CVID NNP cord-014712-5u4e00q6 1608 12 patients patient NNS cord-014712-5u4e00q6 1608 13 . . . cord-014712-5u4e00q6 1609 1 IgG IgG NNP cord-014712-5u4e00q6 1609 2 is be VBZ cord-014712-5u4e00q6 1609 3 major major JJ cord-014712-5u4e00q6 1609 4 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1609 5 and and CC cord-014712-5u4e00q6 1609 6 classified classify VBN cord-014712-5u4e00q6 1609 7 subgroups subgroup NNS cord-014712-5u4e00q6 1609 8 as as IN cord-014712-5u4e00q6 1609 9 IgG1 IgG1 NNP cord-014712-5u4e00q6 1609 10 , , , cord-014712-5u4e00q6 1609 11 IgG2 igg2 NN cord-014712-5u4e00q6 1609 12 , , , cord-014712-5u4e00q6 1609 13 IgG3 igg3 NN cord-014712-5u4e00q6 1609 14 and and CC cord-014712-5u4e00q6 1609 15 IgG4 igg4 NN cord-014712-5u4e00q6 1609 16 . . . cord-014712-5u4e00q6 1610 1 IgG1 IgG1 NNP cord-014712-5u4e00q6 1610 2 and and CC cord-014712-5u4e00q6 1610 3 IgG3 IgG3 NNP cord-014712-5u4e00q6 1610 4 subclasses subclass NNS cord-014712-5u4e00q6 1610 5 are be VBP cord-014712-5u4e00q6 1610 6 rich rich JJ cord-014712-5u4e00q6 1610 7 in in IN cord-014712-5u4e00q6 1610 8 antibodies antibody NNS cord-014712-5u4e00q6 1610 9 aganist aganist VBP cord-014712-5u4e00q6 1610 10 proteins protein NNS cord-014712-5u4e00q6 1610 11 such such JJ cord-014712-5u4e00q6 1610 12 as as IN cord-014712-5u4e00q6 1610 13 the the DT cord-014712-5u4e00q6 1610 14 toxins toxin NNS cord-014712-5u4e00q6 1610 15 produced produce VBN cord-014712-5u4e00q6 1610 16 by by IN cord-014712-5u4e00q6 1610 17 the the DT cord-014712-5u4e00q6 1610 18 diphtheria diphtheria NN cord-014712-5u4e00q6 1610 19 and and CC cord-014712-5u4e00q6 1610 20 tetanus tetanus NN cord-014712-5u4e00q6 1610 21 , , , cord-014712-5u4e00q6 1610 22 as as RB cord-014712-5u4e00q6 1610 23 well well RB cord-014712-5u4e00q6 1610 24 as as IN cord-014712-5u4e00q6 1610 25 antibodies antibody NNS cord-014712-5u4e00q6 1610 26 aganist aganist VBP cord-014712-5u4e00q6 1610 27 viral viral JJ cord-014712-5u4e00q6 1610 28 proteins protein NNS cord-014712-5u4e00q6 1610 29 . . . cord-014712-5u4e00q6 1611 1 Recurrent recurrent JJ cord-014712-5u4e00q6 1611 2 ear ear NN cord-014712-5u4e00q6 1611 3 infections infection NNS cord-014712-5u4e00q6 1611 4 , , , cord-014712-5u4e00q6 1611 5 sinusitis sinusitis NN cord-014712-5u4e00q6 1611 6 , , , cord-014712-5u4e00q6 1611 7 bronchitis bronchitis NN cord-014712-5u4e00q6 1611 8 and and CC cord-014712-5u4e00q6 1611 9 pneumonia pneumonia NN cord-014712-5u4e00q6 1611 10 are be VBP cord-014712-5u4e00q6 1611 11 common common JJ cord-014712-5u4e00q6 1611 12 in in IN cord-014712-5u4e00q6 1611 13 Ig Ig NNP cord-014712-5u4e00q6 1611 14 g g NN cord-014712-5u4e00q6 1611 15 subclass subclass NN cord-014712-5u4e00q6 1611 16 deficiency deficiency NN cord-014712-5u4e00q6 1611 17 . . . cord-014712-5u4e00q6 1612 1 Ig Ig NNP cord-014712-5u4e00q6 1612 2 G1 G1 NNP cord-014712-5u4e00q6 1612 3 is be VBZ cord-014712-5u4e00q6 1612 4 the the DT cord-014712-5u4e00q6 1612 5 major major JJ cord-014712-5u4e00q6 1612 6 subclass subclass NN cord-014712-5u4e00q6 1612 7 of of IN cord-014712-5u4e00q6 1612 8 Ig Ig NNP cord-014712-5u4e00q6 1612 9 G. G. NNP cord-014712-5u4e00q6 1612 10 IgG1 igg1 NN cord-014712-5u4e00q6 1612 11 subclass subclass NN cord-014712-5u4e00q6 1612 12 deficiency deficiency NN cord-014712-5u4e00q6 1612 13 is be VBZ cord-014712-5u4e00q6 1612 14 very very RB cord-014712-5u4e00q6 1612 15 rare rare JJ cord-014712-5u4e00q6 1612 16 . . . cord-014712-5u4e00q6 1613 1 Chronic chronic JJ cord-014712-5u4e00q6 1613 2 eosinophilic eosinophilic JJ cord-014712-5u4e00q6 1613 3 pneumonia pneumonia NN cord-014712-5u4e00q6 1613 4 is be VBZ cord-014712-5u4e00q6 1613 5 one one CD cord-014712-5u4e00q6 1613 6 of of IN cord-014712-5u4e00q6 1613 7 the the DT cord-014712-5u4e00q6 1613 8 eosinophilic eosinophilic JJ cord-014712-5u4e00q6 1613 9 lung lung NN cord-014712-5u4e00q6 1613 10 disease disease NN cord-014712-5u4e00q6 1613 11 and and CC cord-014712-5u4e00q6 1613 12 is be VBZ cord-014712-5u4e00q6 1613 13 seen see VBN cord-014712-5u4e00q6 1613 14 rarely rarely RB cord-014712-5u4e00q6 1613 15 . . . cord-014712-5u4e00q6 1614 1 In in IN cord-014712-5u4e00q6 1614 2 the the DT cord-014712-5u4e00q6 1614 3 presence presence NN cord-014712-5u4e00q6 1614 4 of of IN cord-014712-5u4e00q6 1614 5 peripheral peripheral JJ cord-014712-5u4e00q6 1614 6 eosinophilia eosinophilia JJ cord-014712-5u4e00q6 1614 7 and and CC cord-014712-5u4e00q6 1614 8 radiological radiological JJ cord-014712-5u4e00q6 1614 9 pulmonary pulmonary NN cord-014712-5u4e00q6 1614 10 infiltrates infiltrate VBZ cord-014712-5u4e00q6 1614 11 diseases disease NNS cord-014712-5u4e00q6 1614 12 suspected suspect VBN cord-014712-5u4e00q6 1614 13 . . . cord-014712-5u4e00q6 1615 1 When when WRB cord-014712-5u4e00q6 1615 2 increase increase VB cord-014712-5u4e00q6 1615 3 in in IN cord-014712-5u4e00q6 1615 4 the the DT cord-014712-5u4e00q6 1615 5 number number NN cord-014712-5u4e00q6 1615 6 of of IN cord-014712-5u4e00q6 1615 7 eosinophils eosinophil NNS cord-014712-5u4e00q6 1615 8 in in IN cord-014712-5u4e00q6 1615 9 bronchoalveolar bronchoalveolar JJ cord-014712-5u4e00q6 1615 10 lavage lavage NN cord-014712-5u4e00q6 1615 11 fluids fluid NNS cord-014712-5u4e00q6 1615 12 and/or and/or CC cord-014712-5u4e00q6 1615 13 presence presence NN cord-014712-5u4e00q6 1615 14 of of IN cord-014712-5u4e00q6 1615 15 eosinophils eosinophil NNS cord-014712-5u4e00q6 1615 16 in in IN cord-014712-5u4e00q6 1615 17 lung lung NN cord-014712-5u4e00q6 1615 18 tissue tissue NN cord-014712-5u4e00q6 1615 19 diagnosis diagnosis NN cord-014712-5u4e00q6 1615 20 is be VBZ cord-014712-5u4e00q6 1615 21 confirmed confirm VBN cord-014712-5u4e00q6 1615 22 . . . cord-014712-5u4e00q6 1616 1 According accord VBG cord-014712-5u4e00q6 1616 2 to to IN cord-014712-5u4e00q6 1616 3 different different JJ cord-014712-5u4e00q6 1616 4 recording recording NN cord-014712-5u4e00q6 1616 5 systems system NNS cord-014712-5u4e00q6 1616 6 chronic chronic JJ cord-014712-5u4e00q6 1616 7 eosinophilic eosinophilic JJ cord-014712-5u4e00q6 1616 8 pneumonia pneumonia NN cord-014712-5u4e00q6 1616 9 is be VBZ cord-014712-5u4e00q6 1616 10 % % NN cord-014712-5u4e00q6 1616 11 0 0 CD cord-014712-5u4e00q6 1616 12 - - SYM cord-014712-5u4e00q6 1616 13 2 2 CD cord-014712-5u4e00q6 1616 14 of of IN cord-014712-5u4e00q6 1616 15 the the DT cord-014712-5u4e00q6 1616 16 interstitial interstitial JJ cord-014712-5u4e00q6 1616 17 lung lung NNP cord-014712-5u4e00q6 1616 18 disase disase NNP cord-014712-5u4e00q6 1616 19 . . . cord-014712-5u4e00q6 1617 1 There there EX cord-014712-5u4e00q6 1617 2 is be VBZ cord-014712-5u4e00q6 1617 3 not not RB cord-014712-5u4e00q6 1617 4 any any DT cord-014712-5u4e00q6 1617 5 criteria criterion NNS cord-014712-5u4e00q6 1617 6 for for IN cord-014712-5u4e00q6 1617 7 diagnosis diagnosis NN cord-014712-5u4e00q6 1617 8 but but CC cord-014712-5u4e00q6 1617 9 also also RB cord-014712-5u4e00q6 1617 10 diagnoses diagnosis NNS cord-014712-5u4e00q6 1617 11 is be VBZ cord-014712-5u4e00q6 1617 12 confirmed confirm VBN cord-014712-5u4e00q6 1617 13 with with IN cord-014712-5u4e00q6 1617 14 suspected suspect VBN cord-014712-5u4e00q6 1617 15 findings finding NNS cord-014712-5u4e00q6 1617 16 . . . cord-014712-5u4e00q6 1618 1 Symptoms symptom NNS cord-014712-5u4e00q6 1618 2 inludes inlude VBZ cord-014712-5u4e00q6 1618 3 that that IN cord-014712-5u4e00q6 1618 4 : : : cord-014712-5u4e00q6 1618 5 1)In 1)in CD cord-014712-5u4e00q6 1618 6 the the DT cord-014712-5u4e00q6 1618 7 presence presence NN cord-014712-5u4e00q6 1618 8 of of IN cord-014712-5u4e00q6 1618 9 respiratory respiratory JJ cord-014712-5u4e00q6 1618 10 symptoms symptom NNS cord-014712-5u4e00q6 1618 11 for for IN cord-014712-5u4e00q6 1618 12 two two CD cord-014712-5u4e00q6 1618 13 weeks week NNS cord-014712-5u4e00q6 1618 14 long long JJ cord-014712-5u4e00q6 1618 15 2)Eosinophilia 2)eosinophilia CD cord-014712-5u4e00q6 1618 16 at at IN cord-014712-5u4e00q6 1618 17 alveolar alveolar NN cord-014712-5u4e00q6 1618 18 lavage lavage NN cord-014712-5u4e00q6 1618 19 and\or and\or NNP cord-014712-5u4e00q6 1618 20 peripheral peripheral JJ cord-014712-5u4e00q6 1618 21 blood blood NN cord-014712-5u4e00q6 1619 1 ( ( -LRB- cord-014712-5u4e00q6 1619 2 BAL BAL NNP cord-014712-5u4e00q6 1619 3 fluid fluid JJ cord-014712-5u4e00q6 1619 4 cytological cytological JJ cord-014712-5u4e00q6 1619 5 examination examination NN cord-014712-5u4e00q6 1619 6 > > XX cord-014712-5u4e00q6 1619 7 % % NN cord-014712-5u4e00q6 1619 8 25 25 CD cord-014712-5u4e00q6 1619 9 , , , cord-014712-5u4e00q6 1619 10 blood blood NN cord-014712-5u4e00q6 1619 11 > > XX cord-014712-5u4e00q6 1619 12 1500 1500 CD cord-014712-5u4e00q6 1619 13 / / SYM cord-014712-5u4e00q6 1619 14 mm mm NN cord-014712-5u4e00q6 1619 15 3 3 CD cord-014712-5u4e00q6 1619 16 ) ) -RRB- cord-014712-5u4e00q6 1620 1 3)Radiological 3)radiological CD cord-014712-5u4e00q6 1620 2 imaging imaging NN cord-014712-5u4e00q6 1620 3 of of IN cord-014712-5u4e00q6 1620 4 the the DT cord-014712-5u4e00q6 1620 5 lung lung NN cord-014712-5u4e00q6 1620 6 peripheral peripheral JJ cord-014712-5u4e00q6 1620 7 infiltration infiltration NN cord-014712-5u4e00q6 1620 8 4)Exclusion 4)exclusion CD cord-014712-5u4e00q6 1620 9 of of IN cord-014712-5u4e00q6 1620 10 the the DT cord-014712-5u4e00q6 1620 11 other other JJ cord-014712-5u4e00q6 1620 12 causes cause NNS cord-014712-5u4e00q6 1620 13 of of IN cord-014712-5u4e00q6 1620 14 eosinophlic eosinophlic JJ cord-014712-5u4e00q6 1620 15 lung lung NN cord-014712-5u4e00q6 1620 16 disease disease NN cord-014712-5u4e00q6 1621 1 There there EX cord-014712-5u4e00q6 1621 2 is be VBZ cord-014712-5u4e00q6 1621 3 eosinophilia eosinophilia NN cord-014712-5u4e00q6 1621 4 over over IN cord-014712-5u4e00q6 1621 5 1000 1000 CD cord-014712-5u4e00q6 1621 6 / / SYM cord-014712-5u4e00q6 1621 7 mm mm NN cord-014712-5u4e00q6 1621 8 3 3 CD cord-014712-5u4e00q6 1621 9 nearly nearly RB cord-014712-5u4e00q6 1621 10 all all DT cord-014712-5u4e00q6 1621 11 patients patient NNS cord-014712-5u4e00q6 1621 12 . . . cord-014712-5u4e00q6 1622 1 One one CD cord-014712-5u4e00q6 1622 2 of of IN cord-014712-5u4e00q6 1622 3 third third JJ cord-014712-5u4e00q6 1622 4 or or CC cord-014712-5u4e00q6 1622 5 half half NN cord-014712-5u4e00q6 1622 6 of of IN cord-014712-5u4e00q6 1622 7 patients patient NNS cord-014712-5u4e00q6 1622 8 have have VBP cord-014712-5u4e00q6 1622 9 diagnosed diagnose VBN cord-014712-5u4e00q6 1622 10 as as IN cord-014712-5u4e00q6 1622 11 asthma asthma NN cord-014712-5u4e00q6 1622 12 . . . cord-014712-5u4e00q6 1623 1 Disease Disease NNP cord-014712-5u4e00q6 1623 2 begin begin VBP cord-014712-5u4e00q6 1623 3 with with IN cord-014712-5u4e00q6 1623 4 systemic systemic JJ cord-014712-5u4e00q6 1623 5 symptoms symptom NNS cord-014712-5u4e00q6 1623 6 such such JJ cord-014712-5u4e00q6 1623 7 as as IN cord-014712-5u4e00q6 1623 8 night night NN cord-014712-5u4e00q6 1623 9 sweats sweat NNS cord-014712-5u4e00q6 1623 10 , , , cord-014712-5u4e00q6 1623 11 weight weight NN cord-014712-5u4e00q6 1623 12 loss loss NN cord-014712-5u4e00q6 1623 13 , , , cord-014712-5u4e00q6 1623 14 anorexia anorexia NN cord-014712-5u4e00q6 1623 15 and and CC cord-014712-5u4e00q6 1623 16 pulmoner pulmoner NN cord-014712-5u4e00q6 1623 17 symptoms symptom NNS cord-014712-5u4e00q6 1623 18 such such JJ cord-014712-5u4e00q6 1623 19 as as IN cord-014712-5u4e00q6 1623 20 cough cough NN cord-014712-5u4e00q6 1623 21 , , , cord-014712-5u4e00q6 1623 22 shortness shortness NN cord-014712-5u4e00q6 1623 23 of of IN cord-014712-5u4e00q6 1623 24 breath breath NN cord-014712-5u4e00q6 1623 25 , , , cord-014712-5u4e00q6 1623 26 wheezing wheeze VBG cord-014712-5u4e00q6 1623 27 . . . cord-014712-5u4e00q6 1624 1 Patients patient NNS cord-014712-5u4e00q6 1624 2 have have VBP cord-014712-5u4e00q6 1624 3 restrictive restrictive JJ cord-014712-5u4e00q6 1624 4 or or CC cord-014712-5u4e00q6 1624 5 obstructive obstructive JJ cord-014712-5u4e00q6 1624 6 findings finding NNS cord-014712-5u4e00q6 1624 7 in in IN cord-014712-5u4e00q6 1624 8 PFT PFT NNP cord-014712-5u4e00q6 1624 9 . . . cord-014712-5u4e00q6 1625 1 One one CD cord-014712-5u4e00q6 1625 2 of of IN cord-014712-5u4e00q6 1625 3 third third JJ cord-014712-5u4e00q6 1625 4 patients patient NNS cord-014712-5u4e00q6 1625 5 , , , cord-014712-5u4e00q6 1625 6 especially especially RB cord-014712-5u4e00q6 1625 7 with with IN cord-014712-5u4e00q6 1625 8 history history NN cord-014712-5u4e00q6 1625 9 of of IN cord-014712-5u4e00q6 1625 10 asthma asthma NN cord-014712-5u4e00q6 1625 11 , , , cord-014712-5u4e00q6 1625 12 have have VBP cord-014712-5u4e00q6 1625 13 obstruction obstruction NN cord-014712-5u4e00q6 1625 14 in in IN cord-014712-5u4e00q6 1625 15 PFT PFT NNP cord-014712-5u4e00q6 1625 16 . . . cord-014712-5u4e00q6 1626 1 İn i̇n VB cord-014712-5u4e00q6 1626 2 the the DT cord-014712-5u4e00q6 1626 3 pathologic pathologic JJ cord-014712-5u4e00q6 1626 4 biopsy biopsy NN cord-014712-5u4e00q6 1626 5 findings finding NNS cord-014712-5u4e00q6 1626 6 include include VBP cord-014712-5u4e00q6 1626 7 ; ; : cord-014712-5u4e00q6 1626 8 thickening thickening NN cord-014712-5u4e00q6 1626 9 of of IN cord-014712-5u4e00q6 1626 10 alveolar alveolar JJ cord-014712-5u4e00q6 1626 11 walls wall NNS cord-014712-5u4e00q6 1626 12 and and CC cord-014712-5u4e00q6 1626 13 accumolation accumolation NN cord-014712-5u4e00q6 1626 14 of of IN cord-014712-5u4e00q6 1626 15 eosinophils eosinophil NNS cord-014712-5u4e00q6 1626 16 and and CC cord-014712-5u4e00q6 1626 17 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 1626 18 . . . cord-014712-5u4e00q6 1627 1 Long long JJ cord-014712-5u4e00q6 1627 2 time time NN cord-014712-5u4e00q6 1627 3 used use VBD cord-014712-5u4e00q6 1627 4 corticosteroids corticosteroid NNS cord-014712-5u4e00q6 1627 5 treatment treatment NN cord-014712-5u4e00q6 1627 6 is be VBZ cord-014712-5u4e00q6 1627 7 recomended recomende VBN cord-014712-5u4e00q6 1627 8 . . . cord-014712-5u4e00q6 1628 1 Relaps Relaps NNP cord-014712-5u4e00q6 1628 2 is be VBZ cord-014712-5u4e00q6 1628 3 common common JJ cord-014712-5u4e00q6 1628 4 when when WRB cord-014712-5u4e00q6 1628 5 treatment treatment NN cord-014712-5u4e00q6 1628 6 is be VBZ cord-014712-5u4e00q6 1628 7 discontinued discontinue VBN cord-014712-5u4e00q6 1628 8 . . . cord-014712-5u4e00q6 1629 1 We -PRON- PRP cord-014712-5u4e00q6 1629 2 present present VBP cord-014712-5u4e00q6 1629 3 the the DT cord-014712-5u4e00q6 1629 4 patient patient NN cord-014712-5u4e00q6 1629 5 who who WP cord-014712-5u4e00q6 1629 6 has have VBZ cord-014712-5u4e00q6 1629 7 Ig Ig NNP cord-014712-5u4e00q6 1629 8 G1 G1 NNP cord-014712-5u4e00q6 1629 9 deficiency deficiency NN cord-014712-5u4e00q6 1629 10 , , , cord-014712-5u4e00q6 1629 11 chronic chronic JJ cord-014712-5u4e00q6 1629 12 eosinophlia eosinophlia NNP cord-014712-5u4e00q6 1629 13 and and CC cord-014712-5u4e00q6 1629 14 % % NN cord-014712-5u4e00q6 1629 15 42 42 CD cord-014712-5u4e00q6 1629 16 eosinophils eosinophil NNS cord-014712-5u4e00q6 1629 17 in in IN cord-014712-5u4e00q6 1629 18 bronchoalveolar bronchoalveolar NNP cord-014712-5u4e00q6 1629 19 lavage lavage NN cord-014712-5u4e00q6 1629 20 fluid fluid NN cord-014712-5u4e00q6 1629 21 . . . cord-014712-5u4e00q6 1630 1 The the DT cord-014712-5u4e00q6 1630 2 patient patient NN cord-014712-5u4e00q6 1630 3 improved improve VBD cord-014712-5u4e00q6 1630 4 long long JJ cord-014712-5u4e00q6 1630 5 time time NN cord-014712-5u4e00q6 1630 6 used use VBD cord-014712-5u4e00q6 1630 7 oral oral JJ cord-014712-5u4e00q6 1630 8 steroid steroid NN cord-014712-5u4e00q6 1630 9 then then RB cord-014712-5u4e00q6 1630 10 inhaled inhale VBD cord-014712-5u4e00q6 1630 11 steroids steroid NNS cord-014712-5u4e00q6 1630 12 . . . cord-014712-5u4e00q6 1631 1 This this DT cord-014712-5u4e00q6 1631 2 was be VBD cord-014712-5u4e00q6 1631 3 presented present VBN cord-014712-5u4e00q6 1631 4 in in IN cord-014712-5u4e00q6 1631 5 terms term NNS cord-014712-5u4e00q6 1631 6 of of IN cord-014712-5u4e00q6 1631 7 clinical clinical JJ cord-014712-5u4e00q6 1631 8 association association NN cord-014712-5u4e00q6 1631 9 . . . cord-014712-5u4e00q6 1632 1 Case case NN cord-014712-5u4e00q6 1632 2 : : : cord-014712-5u4e00q6 1633 1 A a DT cord-014712-5u4e00q6 1633 2 12 12 CD cord-014712-5u4e00q6 1633 3 years year NNS cord-014712-5u4e00q6 1633 4 old old JJ cord-014712-5u4e00q6 1633 5 female female JJ cord-014712-5u4e00q6 1633 6 patient patient NN cord-014712-5u4e00q6 1633 7 who who WP cord-014712-5u4e00q6 1633 8 were be VBD cord-014712-5u4e00q6 1633 9 followed follow VBN cord-014712-5u4e00q6 1633 10 due due IN cord-014712-5u4e00q6 1633 11 to to IN cord-014712-5u4e00q6 1633 12 asthma asthma NN cord-014712-5u4e00q6 1633 13 in in IN cord-014712-5u4e00q6 1633 14 the the DT cord-014712-5u4e00q6 1633 15 other other JJ cord-014712-5u4e00q6 1633 16 center center NN cord-014712-5u4e00q6 1633 17 for for IN cord-014712-5u4e00q6 1633 18 two two CD cord-014712-5u4e00q6 1633 19 years year NNS cord-014712-5u4e00q6 1633 20 , , , cord-014712-5u4e00q6 1633 21 although although IN cord-014712-5u4e00q6 1633 22 use use NN cord-014712-5u4e00q6 1633 23 of of IN cord-014712-5u4e00q6 1633 24 combination combination NN cord-014712-5u4e00q6 1633 25 inhaled inhale VBN cord-014712-5u4e00q6 1633 26 fluticasone fluticasone NN cord-014712-5u4e00q6 1633 27 and and CC cord-014712-5u4e00q6 1633 28 salmeterol salmeterol NN cord-014712-5u4e00q6 1633 29 , , , cord-014712-5u4e00q6 1633 30 patient patient NN cord-014712-5u4e00q6 1633 31 was be VBD cord-014712-5u4e00q6 1633 32 admitted admit VBN cord-014712-5u4e00q6 1633 33 with with IN cord-014712-5u4e00q6 1633 34 cough cough NN cord-014712-5u4e00q6 1633 35 and and CC cord-014712-5u4e00q6 1633 36 sputum sputum NN cord-014712-5u4e00q6 1633 37 production production NN cord-014712-5u4e00q6 1633 38 . . . cord-014712-5u4e00q6 1634 1 In in IN cord-014712-5u4e00q6 1634 2 thorax thorax NN cord-014712-5u4e00q6 1634 3 CT CT NNP cord-014712-5u4e00q6 1634 4 there there EX cord-014712-5u4e00q6 1634 5 were be VBD cord-014712-5u4e00q6 1634 6 , , , cord-014712-5u4e00q6 1634 7 bronchiectasis bronchiectasis NN cord-014712-5u4e00q6 1634 8 at at IN cord-014712-5u4e00q6 1634 9 right right JJ cord-014712-5u4e00q6 1634 10 lower low JJR cord-014712-5u4e00q6 1634 11 lobe lobe NN cord-014712-5u4e00q6 1634 12 , , , cord-014712-5u4e00q6 1634 13 pneumonic pneumonic JJ cord-014712-5u4e00q6 1634 14 consolidation consolidation NN cord-014712-5u4e00q6 1634 15 in in IN cord-014712-5u4e00q6 1634 16 the the DT cord-014712-5u4e00q6 1634 17 right right JJ cord-014712-5u4e00q6 1634 18 lower low JJR cord-014712-5u4e00q6 1634 19 lobe lobe NN cord-014712-5u4e00q6 1634 20 and and CC cord-014712-5u4e00q6 1634 21 ground ground NN cord-014712-5u4e00q6 1634 22 glass glass NN cord-014712-5u4e00q6 1634 23 opacities opacity NNS cord-014712-5u4e00q6 1634 24 . . . cord-014712-5u4e00q6 1635 1 We -PRON- PRP cord-014712-5u4e00q6 1635 2 detected detect VBD cord-014712-5u4e00q6 1635 3 as as IN cord-014712-5u4e00q6 1635 4 IgG IgG NNP cord-014712-5u4e00q6 1635 5 924 924 CD cord-014712-5u4e00q6 1635 6 mg mg NNP cord-014712-5u4e00q6 1635 7 / / SYM cord-014712-5u4e00q6 1635 8 dl dl NNP cord-014712-5u4e00q6 1635 9 ( ( -LRB- cord-014712-5u4e00q6 1635 10 835 835 CD cord-014712-5u4e00q6 1635 11 - - HYPH cord-014712-5u4e00q6 1635 12 2094mg 2094mg CD cord-014712-5u4e00q6 1635 13 / / SYM cord-014712-5u4e00q6 1635 14 dl dl NNP cord-014712-5u4e00q6 1635 15 ) ) -RRB- cord-014712-5u4e00q6 1635 16 , , , cord-014712-5u4e00q6 1635 17 IgA IgA NNP cord-014712-5u4e00q6 1635 18 157 157 CD cord-014712-5u4e00q6 1635 19 mg mg NNP cord-014712-5u4e00q6 1635 20 / / SYM cord-014712-5u4e00q6 1635 21 dl dl NNP cord-014712-5u4e00q6 1635 22 ( ( -LRB- cord-014712-5u4e00q6 1635 23 67 67 CD cord-014712-5u4e00q6 1635 24 - - SYM cord-014712-5u4e00q6 1635 25 433 433 CD cord-014712-5u4e00q6 1635 26 mg mg NNP cord-014712-5u4e00q6 1635 27 / / SYM cord-014712-5u4e00q6 1635 28 dl dl NNP cord-014712-5u4e00q6 1635 29 ) ) -RRB- cord-014712-5u4e00q6 1635 30 , , . cord-014712-5u4e00q6 1636 1 IgM180 IgM180 NNP cord-014712-5u4e00q6 1636 2 mg mg NNP cord-014712-5u4e00q6 1636 3 / / SYM cord-014712-5u4e00q6 1636 4 dl dl NNP cord-014712-5u4e00q6 1636 5 ( ( -LRB- cord-014712-5u4e00q6 1636 6 47 47 CD cord-014712-5u4e00q6 1636 7 - - SYM cord-014712-5u4e00q6 1636 8 484 484 CD cord-014712-5u4e00q6 1636 9 mg mg NNP cord-014712-5u4e00q6 1636 10 / / SYM cord-014712-5u4e00q6 1636 11 dl dl NNP cord-014712-5u4e00q6 1636 12 ) ) -RRB- cord-014712-5u4e00q6 1636 13 , , , cord-014712-5u4e00q6 1636 14 IgE IgE NNP cord-014712-5u4e00q6 1636 15 108 108 CD cord-014712-5u4e00q6 1636 16 . . . cord-014712-5u4e00q6 1637 1 6 6 CD cord-014712-5u4e00q6 1637 2 mg mg NNP cord-014712-5u4e00q6 1637 3 / / SYM cord-014712-5u4e00q6 1637 4 dl dl NNP cord-014712-5u4e00q6 1637 5 , , , cord-014712-5u4e00q6 1637 6 IgG1 IgG1 NNP cord-014712-5u4e00q6 1637 7 4896 4896 CD cord-014712-5u4e00q6 1637 8 mg mg NNP cord-014712-5u4e00q6 1637 9 / / SYM cord-014712-5u4e00q6 1637 10 dl dl NNP cord-014712-5u4e00q6 1637 11 ( ( -LRB- cord-014712-5u4e00q6 1637 12 5990 5990 CD cord-014712-5u4e00q6 1637 13 - - HYPH cord-014712-5u4e00q6 1637 14 15600 15600 CD cord-014712-5u4e00q6 1637 15 mg mg NNP cord-014712-5u4e00q6 1637 16 / / SYM cord-014712-5u4e00q6 1637 17 dl dl NNP cord-014712-5u4e00q6 1637 18 ) ) -RRB- cord-014712-5u4e00q6 1637 19 , , . cord-014712-5u4e00q6 1638 1 IgG2 igg2 NN cord-014712-5u4e00q6 1638 2 2354 2354 CD cord-014712-5u4e00q6 1639 1 mg mg NNP cord-014712-5u4e00q6 1639 2 / / SYM cord-014712-5u4e00q6 1639 3 dl dl NNP cord-014712-5u4e00q6 1639 4 ( ( -LRB- cord-014712-5u4e00q6 1639 5 1110 1110 CD cord-014712-5u4e00q6 1639 6 - - HYPH cord-014712-5u4e00q6 1639 7 5150mg 5150mg CD cord-014712-5u4e00q6 1639 8 / / SYM cord-014712-5u4e00q6 1639 9 dl dl NN cord-014712-5u4e00q6 1639 10 ) ) -RRB- cord-014712-5u4e00q6 1639 11 , , , cord-014712-5u4e00q6 1639 12 IgG3 igg3 NN cord-014712-5u4e00q6 1639 13 1024 1024 CD cord-014712-5u4e00q6 1639 14 mg mg NNP cord-014712-5u4e00q6 1639 15 / / SYM cord-014712-5u4e00q6 1639 16 dl dl NNP cord-014712-5u4e00q6 1639 17 ( ( -LRB- cord-014712-5u4e00q6 1639 18 290 290 CD cord-014712-5u4e00q6 1639 19 - - HYPH cord-014712-5u4e00q6 1639 20 2000mg 2000mg CD cord-014712-5u4e00q6 1639 21 / / SYM cord-014712-5u4e00q6 1639 22 dl dl NN cord-014712-5u4e00q6 1639 23 ) ) -RRB- cord-014712-5u4e00q6 1639 24 , , . cord-014712-5u4e00q6 1640 1 IgG4 igg4 CD cord-014712-5u4e00q6 1640 2 616 616 CD cord-014712-5u4e00q6 1640 3 mg mg NNP cord-014712-5u4e00q6 1640 4 / / SYM cord-014712-5u4e00q6 1640 5 dl dl NNP cord-014712-5u4e00q6 1640 6 ( ( -LRB- cord-014712-5u4e00q6 1640 7 40 40 CD cord-014712-5u4e00q6 1640 8 - - SYM cord-014712-5u4e00q6 1640 9 1600 1600 CD cord-014712-5u4e00q6 1640 10 mg mg NNP cord-014712-5u4e00q6 1640 11 / / SYM cord-014712-5u4e00q6 1640 12 dl dl NNP cord-014712-5u4e00q6 1640 13 ) ) -RRB- cord-014712-5u4e00q6 1640 14 . . . cord-014712-5u4e00q6 1641 1 Because because IN cord-014712-5u4e00q6 1641 2 eosinophilia eosinophilia NN cord-014712-5u4e00q6 1641 3 ( ( -LRB- cord-014712-5u4e00q6 1641 4 717 717 CD cord-014712-5u4e00q6 1641 5 cells cell NNS cord-014712-5u4e00q6 1641 6 ) ) -RRB- cord-014712-5u4e00q6 1641 7 and and CC cord-014712-5u4e00q6 1641 8 symptoms symptom NNS cord-014712-5u4e00q6 1641 9 continued continue VBD cord-014712-5u4e00q6 1641 10 , , , cord-014712-5u4e00q6 1641 11 bronchoscopy bronchoscopy NNP cord-014712-5u4e00q6 1641 12 was be VBD cord-014712-5u4e00q6 1641 13 performed perform VBN cord-014712-5u4e00q6 1641 14 . . . cord-014712-5u4e00q6 1642 1 Left leave VBN cord-014712-5u4e00q6 1642 2 main main JJ cord-014712-5u4e00q6 1642 3 bronchus bronchus NN cord-014712-5u4e00q6 1642 4 was be VBD cord-014712-5u4e00q6 1642 5 normal normal JJ cord-014712-5u4e00q6 1642 6 , , , cord-014712-5u4e00q6 1642 7 right right JJ cord-014712-5u4e00q6 1642 8 bronchus bronchus NN cord-014712-5u4e00q6 1642 9 were be VBD cord-014712-5u4e00q6 1642 10 seen see VBN cord-014712-5u4e00q6 1642 11 dilated dilated JJ cord-014712-5u4e00q6 1642 12 . . . cord-014712-5u4e00q6 1643 1 Purulent purulent JJ cord-014712-5u4e00q6 1643 2 secretion secretion NN cord-014712-5u4e00q6 1643 3 was be VBD cord-014712-5u4e00q6 1643 4 aspirated aspirate VBN cord-014712-5u4e00q6 1643 5 on on IN cord-014712-5u4e00q6 1643 6 rigt rigt JJ cord-014712-5u4e00q6 1643 7 bronchus bronchus NN cord-014712-5u4e00q6 1643 8 with with IN cord-014712-5u4e00q6 1643 9 flexible flexible JJ cord-014712-5u4e00q6 1643 10 bronchoscopy bronchoscopy NN cord-014712-5u4e00q6 1643 11 .. .. . cord-014712-5u4e00q6 1644 1 In in IN cord-014712-5u4e00q6 1644 2 cytological cytological JJ cord-014712-5u4e00q6 1644 3 examination examination NN cord-014712-5u4e00q6 1644 4 % % NN cord-014712-5u4e00q6 1644 5 42 42 CD cord-014712-5u4e00q6 1644 6 eosinophils eosinophil NNS cord-014712-5u4e00q6 1644 7 was be VBD cord-014712-5u4e00q6 1644 8 detected detect VBN cord-014712-5u4e00q6 1644 9 in in IN cord-014712-5u4e00q6 1644 10 BAL BAL NNP cord-014712-5u4e00q6 1644 11 . . . cord-014712-5u4e00q6 1645 1 Bronchoalveolar Bronchoalveolar NNP cord-014712-5u4e00q6 1645 2 lavage lavage NN cord-014712-5u4e00q6 1645 3 cultures culture NNS cord-014712-5u4e00q6 1645 4 was be VBD cord-014712-5u4e00q6 1645 5 negative negative JJ cord-014712-5u4e00q6 1645 6 . . . cord-014712-5u4e00q6 1646 1 The the DT cord-014712-5u4e00q6 1646 2 patient patient NN cord-014712-5u4e00q6 1646 3 was be VBD cord-014712-5u4e00q6 1646 4 diagnosed diagnose VBN cord-014712-5u4e00q6 1646 5 chronic chronic JJ cord-014712-5u4e00q6 1646 6 eosinophilic eosinophilic JJ cord-014712-5u4e00q6 1646 7 pneumonia pneumonia NN cord-014712-5u4e00q6 1646 8 and and CC cord-014712-5u4e00q6 1647 1 1 1 CD cord-014712-5u4e00q6 1647 2 mg/ mg/ NN cord-014712-5u4e00q6 1647 3 kg kg NNP cord-014712-5u4e00q6 1647 4 oral oral JJ cord-014712-5u4e00q6 1647 5 steroid steroid NN cord-014712-5u4e00q6 1647 6 was be VBD cord-014712-5u4e00q6 1647 7 began begin VBN cord-014712-5u4e00q6 1647 8 . . . cord-014712-5u4e00q6 1648 1 IVIG IVIG NNP cord-014712-5u4e00q6 1648 2 was be VBD cord-014712-5u4e00q6 1648 3 given give VBN cord-014712-5u4e00q6 1648 4 up up RP cord-014712-5u4e00q6 1648 5 to to IN cord-014712-5u4e00q6 1648 6 patient patient NN cord-014712-5u4e00q6 1648 7 ; ; : cord-014712-5u4e00q6 1648 8 because because IN cord-014712-5u4e00q6 1648 9 of of IN cord-014712-5u4e00q6 1648 10 frequently frequently RB cord-014712-5u4e00q6 1648 11 recurrent recurrent JJ cord-014712-5u4e00q6 1648 12 sinopulmonary sinopulmonary JJ cord-014712-5u4e00q6 1648 13 infection infection NN cord-014712-5u4e00q6 1648 14 and and CC cord-014712-5u4e00q6 1648 15 patient patient NN cord-014712-5u4e00q6 1648 16 had have VBD cord-014712-5u4e00q6 1648 17 IgG1 igg1 XX cord-014712-5u4e00q6 1648 18 subclass subclass NN cord-014712-5u4e00q6 1648 19 deficiency deficiency NN cord-014712-5u4e00q6 1648 20 . . . cord-014712-5u4e00q6 1649 1 In in IN cord-014712-5u4e00q6 1649 2 the the DT cord-014712-5u4e00q6 1649 3 third third JJ cord-014712-5u4e00q6 1649 4 month month NN cord-014712-5u4e00q6 1649 5 of of IN cord-014712-5u4e00q6 1649 6 oral oral JJ cord-014712-5u4e00q6 1649 7 steroid steroid NN cord-014712-5u4e00q6 1649 8 therapy therapy NN cord-014712-5u4e00q6 1649 9 physical physical JJ cord-014712-5u4e00q6 1649 10 examination examination NN cord-014712-5u4e00q6 1649 11 findings finding NNS cord-014712-5u4e00q6 1649 12 and and CC cord-014712-5u4e00q6 1649 13 PFT PFT NNP cord-014712-5u4e00q6 1649 14 were be VBD cord-014712-5u4e00q6 1649 15 improved improve VBN cord-014712-5u4e00q6 1649 16 and and CC cord-014712-5u4e00q6 1649 17 started start VBD cord-014712-5u4e00q6 1649 18 inhaled inhale VBN cord-014712-5u4e00q6 1649 19 steroid steroid NN cord-014712-5u4e00q6 1649 20 . . . cord-014712-5u4e00q6 1650 1 Conclusion conclusion NN cord-014712-5u4e00q6 1650 2 : : : cord-014712-5u4e00q6 1651 1 Immunodeficiencies Immunodeficiencies NNP cord-014712-5u4e00q6 1651 2 often often RB cord-014712-5u4e00q6 1651 3 can can MD cord-014712-5u4e00q6 1651 4 be be VB cord-014712-5u4e00q6 1651 5 seen see VBN cord-014712-5u4e00q6 1651 6 alone alone JJ cord-014712-5u4e00q6 1651 7 . . . cord-014712-5u4e00q6 1652 1 Although although IN cord-014712-5u4e00q6 1652 2 , , , cord-014712-5u4e00q6 1652 3 the the DT cord-014712-5u4e00q6 1652 4 pathogenesis pathogenesis NN cord-014712-5u4e00q6 1652 5 of of IN cord-014712-5u4e00q6 1652 6 immundeficiencies immundeficiencie NNS cord-014712-5u4e00q6 1652 7 with with IN cord-014712-5u4e00q6 1652 8 lung lung NN cord-014712-5u4e00q6 1652 9 disease disease NN cord-014712-5u4e00q6 1652 10 is be VBZ cord-014712-5u4e00q6 1652 11 not not RB cord-014712-5u4e00q6 1652 12 well well RB cord-014712-5u4e00q6 1652 13 understood understand VBN cord-014712-5u4e00q6 1652 14 and and CC cord-014712-5u4e00q6 1652 15 associated associate VBN cord-014712-5u4e00q6 1652 16 with with IN cord-014712-5u4e00q6 1652 17 interstitial interstitial JJ cord-014712-5u4e00q6 1652 18 lung lung NN cord-014712-5u4e00q6 1652 19 disease disease NN cord-014712-5u4e00q6 1652 20 . . . cord-014712-5u4e00q6 1653 1 Therefore therefore RB cord-014712-5u4e00q6 1653 2 , , , cord-014712-5u4e00q6 1653 3 investigations investigation NNS cord-014712-5u4e00q6 1653 4 must must MD cord-014712-5u4e00q6 1653 5 be be VB cord-014712-5u4e00q6 1653 6 include include VB cord-014712-5u4e00q6 1653 7 bronchoscopy bronchoscopy NN cord-014712-5u4e00q6 1653 8 and and CC cord-014712-5u4e00q6 1653 9 bronchoalveolar bronchoalveolar JJ cord-014712-5u4e00q6 1653 10 lavage lavage NN cord-014712-5u4e00q6 1653 11 . . . cord-014712-5u4e00q6 1654 1 SCID SCID NNP cord-014712-5u4e00q6 1654 2 is be VBZ cord-014712-5u4e00q6 1654 3 a a DT cord-014712-5u4e00q6 1654 4 congenital congenital JJ cord-014712-5u4e00q6 1654 5 heterogeneous heterogeneous JJ cord-014712-5u4e00q6 1654 6 group group NN cord-014712-5u4e00q6 1654 7 of of IN cord-014712-5u4e00q6 1654 8 diseases disease NNS cord-014712-5u4e00q6 1654 9 characterized characterize VBN cord-014712-5u4e00q6 1654 10 by by IN cord-014712-5u4e00q6 1654 11 severe severe JJ cord-014712-5u4e00q6 1654 12 impairment impairment NN cord-014712-5u4e00q6 1654 13 of of IN cord-014712-5u4e00q6 1654 14 T t NN cord-014712-5u4e00q6 1654 15 , , , cord-014712-5u4e00q6 1654 16 B B NNP cord-014712-5u4e00q6 1654 17 , , , cord-014712-5u4e00q6 1654 18 NK NK NNP cord-014712-5u4e00q6 1654 19 cell cell NN cord-014712-5u4e00q6 1654 20 development development NN cord-014712-5u4e00q6 1654 21 and and CC cord-014712-5u4e00q6 1654 22 function function NN cord-014712-5u4e00q6 1654 23 . . . cord-014712-5u4e00q6 1655 1 The the DT cord-014712-5u4e00q6 1655 2 hematopoietic hematopoietic JJ cord-014712-5u4e00q6 1655 3 stem stem NN cord-014712-5u4e00q6 1655 4 cell cell NN cord-014712-5u4e00q6 1655 5 transplanted transplant VBD cord-014712-5u4e00q6 1655 6 93 93 CD cord-014712-5u4e00q6 1655 7 patients patient NNS cord-014712-5u4e00q6 1655 8 with with IN cord-014712-5u4e00q6 1655 9 SCID SCID NNP cord-014712-5u4e00q6 1655 10 in in IN cord-014712-5u4e00q6 1655 11 the the DT cord-014712-5u4e00q6 1655 12 time time NN cord-014712-5u4e00q6 1655 13 period period NN cord-014712-5u4e00q6 1655 14 from from IN cord-014712-5u4e00q6 1655 15 1994 1994 CD cord-014712-5u4e00q6 1655 16 to to IN cord-014712-5u4e00q6 1655 17 2014 2014 CD cord-014712-5u4e00q6 1655 18 were be VBD cord-014712-5u4e00q6 1655 19 evaluated evaluate VBN cord-014712-5u4e00q6 1655 20 . . . cord-014712-5u4e00q6 1656 1 Male male JJ cord-014712-5u4e00q6 1656 2 / / SYM cord-014712-5u4e00q6 1656 3 female female JJ cord-014712-5u4e00q6 1656 4 ratio ratio NN cord-014712-5u4e00q6 1656 5 is be VBZ cord-014712-5u4e00q6 1656 6 59/34 59/34 CD cord-014712-5u4e00q6 1656 7 . . . cord-014712-5u4e00q6 1657 1 Median median JJ cord-014712-5u4e00q6 1657 2 follow follow NN cord-014712-5u4e00q6 1657 3 - - HYPH cord-014712-5u4e00q6 1657 4 up up NN cord-014712-5u4e00q6 1657 5 time time NN cord-014712-5u4e00q6 1657 6 is be VBZ cord-014712-5u4e00q6 1657 7 5 5 CD cord-014712-5u4e00q6 1657 8 years year NNS cord-014712-5u4e00q6 1657 9 ( ( -LRB- cord-014712-5u4e00q6 1657 10 6 6 CD cord-014712-5u4e00q6 1657 11 months-20 months-20 CD cord-014712-5u4e00q6 1657 12 years year NNS cord-014712-5u4e00q6 1657 13 ) ) -RRB- cord-014712-5u4e00q6 1657 14 . . . cord-014712-5u4e00q6 1658 1 Parental parental JJ cord-014712-5u4e00q6 1658 2 consanguinity consanguinity NN cord-014712-5u4e00q6 1658 3 ratio ratio NN cord-014712-5u4e00q6 1658 4 was be VBD cord-014712-5u4e00q6 1658 5 81,7 81,7 CD cord-014712-5u4e00q6 1658 6 % % NN cord-014712-5u4e00q6 1658 7 . . . cord-014712-5u4e00q6 1659 1 Mean mean JJ cord-014712-5u4e00q6 1659 2 age age NN cord-014712-5u4e00q6 1659 3 of of IN cord-014712-5u4e00q6 1659 4 onset onset NN cord-014712-5u4e00q6 1659 5 of of IN cord-014712-5u4e00q6 1659 6 the the DT cord-014712-5u4e00q6 1659 7 symptoms symptom NNS cord-014712-5u4e00q6 1659 8 was be VBD cord-014712-5u4e00q6 1659 9 3 3 CD cord-014712-5u4e00q6 1659 10 ± ± NNP cord-014712-5u4e00q6 1659 11 2,7 2,7 CD cord-014712-5u4e00q6 1659 12 months month NNS cord-014712-5u4e00q6 1659 13 . . . cord-014712-5u4e00q6 1660 1 Most Most JJS cord-014712-5u4e00q6 1660 2 common common JJ cord-014712-5u4e00q6 1660 3 clinical clinical JJ cord-014712-5u4e00q6 1660 4 findings finding NNS cord-014712-5u4e00q6 1660 5 on on IN cord-014712-5u4e00q6 1660 6 admission admission NN cord-014712-5u4e00q6 1660 7 were be VBD cord-014712-5u4e00q6 1660 8 ; ; : cord-014712-5u4e00q6 1660 9 pneumonia pneumonia NN cord-014712-5u4e00q6 1660 10 ( ( -LRB- cord-014712-5u4e00q6 1660 11 75,3 75,3 CD cord-014712-5u4e00q6 1660 12 % % NN cord-014712-5u4e00q6 1660 13 ) ) -RRB- cord-014712-5u4e00q6 1660 14 , , , cord-014712-5u4e00q6 1660 15 moniliasis moniliasis NNP cord-014712-5u4e00q6 1660 16 ( ( -LRB- cord-014712-5u4e00q6 1660 17 62,4 62,4 CD cord-014712-5u4e00q6 1660 18 % % NN cord-014712-5u4e00q6 1660 19 ) ) -RRB- cord-014712-5u4e00q6 1660 20 , , , cord-014712-5u4e00q6 1660 21 diarrhea diarrhea NN cord-014712-5u4e00q6 1660 22 ( ( -LRB- cord-014712-5u4e00q6 1660 23 39,8 39,8 CD cord-014712-5u4e00q6 1660 24 % % NN cord-014712-5u4e00q6 1660 25 ) ) -RRB- cord-014712-5u4e00q6 1660 26 , , , cord-014712-5u4e00q6 1660 27 dermatitis dermatitis NN cord-014712-5u4e00q6 1660 28 ( ( -LRB- cord-014712-5u4e00q6 1660 29 19.4 19.4 CD cord-014712-5u4e00q6 1660 30 % % NN cord-014712-5u4e00q6 1660 31 ) ) -RRB- cord-014712-5u4e00q6 1660 32 . . . cord-014712-5u4e00q6 1661 1 Classification classification NN cord-014712-5u4e00q6 1661 2 according accord VBG cord-014712-5u4e00q6 1661 3 to to IN cord-014712-5u4e00q6 1661 4 T T NNP cord-014712-5u4e00q6 1661 5 , , , cord-014712-5u4e00q6 1661 6 B B NNP cord-014712-5u4e00q6 1661 7 , , , cord-014712-5u4e00q6 1661 8 and and CC cord-014712-5u4e00q6 1661 9 NK NK NNP cord-014712-5u4e00q6 1661 10 cell cell NN cord-014712-5u4e00q6 1661 11 counts count VBZ cord-014712-5u4e00q6 1661 12 ; ; , cord-014712-5u4e00q6 1661 13 ( ( -LRB- cord-014712-5u4e00q6 1661 14 Figure figure NN cord-014712-5u4e00q6 1661 15 1 1 CD cord-014712-5u4e00q6 1661 16 ) ) -RRB- cord-014712-5u4e00q6 1661 17 . . . cord-014712-5u4e00q6 1662 1 Molecular molecular JJ cord-014712-5u4e00q6 1662 2 genetic genetic JJ cord-014712-5u4e00q6 1662 3 defects defect NNS cord-014712-5u4e00q6 1662 4 were be VBD cord-014712-5u4e00q6 1662 5 determined determine VBN cord-014712-5u4e00q6 1662 6 in in IN cord-014712-5u4e00q6 1662 7 60 60 CD cord-014712-5u4e00q6 1662 8 patients patient NNS cord-014712-5u4e00q6 1662 9 ( ( -LRB- cord-014712-5u4e00q6 1662 10 Figure figure NN cord-014712-5u4e00q6 1662 11 2 2 CD cord-014712-5u4e00q6 1662 12 ) ) -RRB- cord-014712-5u4e00q6 1662 13 are be VBP cord-014712-5u4e00q6 1662 14 given give VBN cord-014712-5u4e00q6 1662 15 . . . cord-014712-5u4e00q6 1663 1 There there EX cord-014712-5u4e00q6 1663 2 is be VBZ cord-014712-5u4e00q6 1663 3 no no DT cord-014712-5u4e00q6 1663 4 difference difference NN cord-014712-5u4e00q6 1663 5 between between IN cord-014712-5u4e00q6 1663 6 age age NN cord-014712-5u4e00q6 1663 7 groups group NNS cord-014712-5u4e00q6 1663 8 according accord VBG cord-014712-5u4e00q6 1663 9 to to IN cord-014712-5u4e00q6 1663 10 occurrence occurrence NN cord-014712-5u4e00q6 1663 11 of of IN cord-014712-5u4e00q6 1663 12 acute acute JJ cord-014712-5u4e00q6 1663 13 and and CC cord-014712-5u4e00q6 1663 14 chronic chronic JJ cord-014712-5u4e00q6 1663 15 gvhd gvhd NNP cord-014712-5u4e00q6 1663 16 . . . cord-014712-5u4e00q6 1664 1 Death death NN cord-014712-5u4e00q6 1664 2 ratio ratio NN cord-014712-5u4e00q6 1664 3 increases increase VBZ cord-014712-5u4e00q6 1664 4 with with IN cord-014712-5u4e00q6 1664 5 the the DT cord-014712-5u4e00q6 1664 6 increasing increase VBG cord-014712-5u4e00q6 1664 7 age age NN cord-014712-5u4e00q6 1664 8 . . . cord-014712-5u4e00q6 1665 1 Acute acute JJ cord-014712-5u4e00q6 1665 2 and and CC cord-014712-5u4e00q6 1665 3 chronic chronic JJ cord-014712-5u4e00q6 1665 4 gvhd gvhd NN cord-014712-5u4e00q6 1665 5 and and CC cord-014712-5u4e00q6 1665 6 number number NN cord-014712-5u4e00q6 1665 7 of of IN cord-014712-5u4e00q6 1665 8 deaths death NNS cord-014712-5u4e00q6 1665 9 were be VBD cord-014712-5u4e00q6 1665 10 significantly significantly RB cord-014712-5u4e00q6 1665 11 higher high JJR cord-014712-5u4e00q6 1665 12 in in IN cord-014712-5u4e00q6 1665 13 peripheral peripheral JJ cord-014712-5u4e00q6 1665 14 stem stem NN cord-014712-5u4e00q6 1665 15 cell cell NN cord-014712-5u4e00q6 1665 16 transplanted transplant VBN cord-014712-5u4e00q6 1665 17 patients patient NNS cord-014712-5u4e00q6 1665 18 . . . cord-014712-5u4e00q6 1666 1 There there EX cord-014712-5u4e00q6 1666 2 is be VBZ cord-014712-5u4e00q6 1666 3 no no DT cord-014712-5u4e00q6 1666 4 statistically statistically RB cord-014712-5u4e00q6 1666 5 significant significant JJ cord-014712-5u4e00q6 1666 6 difference difference NN cord-014712-5u4e00q6 1666 7 in in IN cord-014712-5u4e00q6 1666 8 occurrence occurrence NN cord-014712-5u4e00q6 1666 9 of of IN cord-014712-5u4e00q6 1666 10 acute acute JJ cord-014712-5u4e00q6 1666 11 / / SYM cord-014712-5u4e00q6 1666 12 chronic chronic JJ cord-014712-5u4e00q6 1666 13 GVHD GVHD NNP cord-014712-5u4e00q6 1666 14 between between IN cord-014712-5u4e00q6 1666 15 B b NN cord-014712-5u4e00q6 1666 16 - - : cord-014712-5u4e00q6 1666 17 and and CC cord-014712-5u4e00q6 1666 18 B b NN cord-014712-5u4e00q6 1666 19 + + CC cord-014712-5u4e00q6 1666 20 SCID SCID NNP cord-014712-5u4e00q6 1666 21 , , , cord-014712-5u4e00q6 1666 22 who who WP cord-014712-5u4e00q6 1666 23 had have VBD cord-014712-5u4e00q6 1666 24 been be VBN cord-014712-5u4e00q6 1666 25 HLA HLA NNP cord-014712-5u4e00q6 1666 26 idantically idantically RB cord-014712-5u4e00q6 1666 27 transplanted transplant VBN cord-014712-5u4e00q6 1666 28 from from IN cord-014712-5u4e00q6 1666 29 family family NN cord-014712-5u4e00q6 1666 30 donor donor NN cord-014712-5u4e00q6 1666 31 . . . cord-014712-5u4e00q6 1667 1 Both both DT cord-014712-5u4e00q6 1667 2 groups group NNS cord-014712-5u4e00q6 1667 3 have have VBP cord-014712-5u4e00q6 1667 4 similar similar JJ cord-014712-5u4e00q6 1667 5 ratios ratio NNS cord-014712-5u4e00q6 1667 6 of of IN cord-014712-5u4e00q6 1667 7 IVIG IVIG NNP cord-014712-5u4e00q6 1667 8 treatment treatment NN cord-014712-5u4e00q6 1667 9 need need NN cord-014712-5u4e00q6 1667 10 after after IN cord-014712-5u4e00q6 1667 11 HSCT HSCT NNP cord-014712-5u4e00q6 1667 12 . . . cord-014712-5u4e00q6 1668 1 There there EX cord-014712-5u4e00q6 1668 2 is be VBZ cord-014712-5u4e00q6 1668 3 no no DT cord-014712-5u4e00q6 1668 4 statistically statistically RB cord-014712-5u4e00q6 1668 5 significant significant JJ cord-014712-5u4e00q6 1668 6 difference difference NN cord-014712-5u4e00q6 1668 7 in in IN cord-014712-5u4e00q6 1668 8 occurrence occurrence NN cord-014712-5u4e00q6 1668 9 of of IN cord-014712-5u4e00q6 1668 10 acute/ acute/ NN cord-014712-5u4e00q6 1668 11 chronic chronic JJ cord-014712-5u4e00q6 1668 12 GVHD GVHD NNP cord-014712-5u4e00q6 1668 13 between between IN cord-014712-5u4e00q6 1668 14 NK NK NNP cord-014712-5u4e00q6 1668 15 - - : cord-014712-5u4e00q6 1668 16 and and CC cord-014712-5u4e00q6 1668 17 NK NK NNP cord-014712-5u4e00q6 1668 18 + + CC cord-014712-5u4e00q6 1668 19 SCID SCID NNP cord-014712-5u4e00q6 1668 20 , , , cord-014712-5u4e00q6 1668 21 who who WP cord-014712-5u4e00q6 1668 22 had have VBD cord-014712-5u4e00q6 1668 23 been be VBN cord-014712-5u4e00q6 1668 24 HLA HLA NNP cord-014712-5u4e00q6 1668 25 idantically idantically RB cord-014712-5u4e00q6 1668 26 transplanted transplant VBN cord-014712-5u4e00q6 1668 27 from from IN cord-014712-5u4e00q6 1668 28 family family NN cord-014712-5u4e00q6 1668 29 donor donor NN cord-014712-5u4e00q6 1668 30 . . . cord-014712-5u4e00q6 1669 1 Both both DT cord-014712-5u4e00q6 1669 2 groups group NNS cord-014712-5u4e00q6 1669 3 have have VBP cord-014712-5u4e00q6 1669 4 similar similar JJ cord-014712-5u4e00q6 1669 5 ratios ratio NNS cord-014712-5u4e00q6 1669 6 of of IN cord-014712-5u4e00q6 1669 7 IVIG IVIG NNP cord-014712-5u4e00q6 1669 8 treatment treatment NN cord-014712-5u4e00q6 1669 9 need need NN cord-014712-5u4e00q6 1669 10 after after IN cord-014712-5u4e00q6 1669 11 HSCT HSCT NNP cord-014712-5u4e00q6 1669 12 . . . cord-014712-5u4e00q6 1670 1 Death death NN cord-014712-5u4e00q6 1670 2 ratio ratio NN cord-014712-5u4e00q6 1670 3 was be VBD cord-014712-5u4e00q6 1670 4 similar similar JJ cord-014712-5u4e00q6 1670 5 in in IN cord-014712-5u4e00q6 1670 6 groups group NNS cord-014712-5u4e00q6 1670 7 . . . cord-014712-5u4e00q6 1671 1 BCG BCG NNP cord-014712-5u4e00q6 1671 2 dissemination dissemination NN cord-014712-5u4e00q6 1671 3 in in IN cord-014712-5u4e00q6 1671 4 BCG BCG NNP cord-014712-5u4e00q6 1671 5 vaccinated vaccinate VBD cord-014712-5u4e00q6 1671 6 patients patient NNS cord-014712-5u4e00q6 1671 7 is be VBZ cord-014712-5u4e00q6 1671 8 significantly significantly RB cord-014712-5u4e00q6 1671 9 higher high JJR cord-014712-5u4e00q6 1671 10 in in IN cord-014712-5u4e00q6 1671 11 the the DT cord-014712-5u4e00q6 1671 12 NK NK NNP cord-014712-5u4e00q6 1671 13 + + CC cord-014712-5u4e00q6 1671 14 group group NN cord-014712-5u4e00q6 1671 15 . . . cord-014712-5u4e00q6 1672 1 The the DT cord-014712-5u4e00q6 1672 2 rate rate NN cord-014712-5u4e00q6 1672 3 of of IN cord-014712-5u4e00q6 1672 4 complications complication NNS cord-014712-5u4e00q6 1672 5 due due JJ cord-014712-5u4e00q6 1672 6 to to IN cord-014712-5u4e00q6 1672 7 severe severe JJ cord-014712-5u4e00q6 1672 8 infections infection NNS cord-014712-5u4e00q6 1672 9 is be VBZ cord-014712-5u4e00q6 1672 10 high high JJ cord-014712-5u4e00q6 1672 11 and and CC cord-014712-5u4e00q6 1672 12 increases increase VBZ cord-014712-5u4e00q6 1672 13 with with IN cord-014712-5u4e00q6 1672 14 age age NN cord-014712-5u4e00q6 1672 15 in in IN cord-014712-5u4e00q6 1672 16 patients patient NNS cord-014712-5u4e00q6 1672 17 with with IN cord-014712-5u4e00q6 1672 18 SCID SCID NNP cord-014712-5u4e00q6 1672 19 . . . cord-014712-5u4e00q6 1673 1 HSCT HSCT NNP cord-014712-5u4e00q6 1673 2 is be VBZ cord-014712-5u4e00q6 1673 3 curative curative JJ cord-014712-5u4e00q6 1673 4 , , , cord-014712-5u4e00q6 1673 5 should should MD cord-014712-5u4e00q6 1673 6 be be VB cord-014712-5u4e00q6 1673 7 considered consider VBN cord-014712-5u4e00q6 1673 8 as as RB cord-014712-5u4e00q6 1673 9 early early RB cord-014712-5u4e00q6 1673 10 as as IN cord-014712-5u4e00q6 1673 11 possible possible JJ cord-014712-5u4e00q6 1673 12 . . . cord-014712-5u4e00q6 1674 1 TREC trec JJ cord-014712-5u4e00q6 1674 2 analysis analysis NN cord-014712-5u4e00q6 1674 3 for for IN cord-014712-5u4e00q6 1674 4 neonatal neonatal JJ cord-014712-5u4e00q6 1674 5 screening screening NN cord-014712-5u4e00q6 1674 6 will will MD cord-014712-5u4e00q6 1674 7 give give VB cord-014712-5u4e00q6 1674 8 chance chance NN cord-014712-5u4e00q6 1674 9 for for IN cord-014712-5u4e00q6 1674 10 early early JJ cord-014712-5u4e00q6 1674 11 diagnosis diagnosis NN cord-014712-5u4e00q6 1674 12 and and CC cord-014712-5u4e00q6 1674 13 treatment treatment NN cord-014712-5u4e00q6 1674 14 of of IN cord-014712-5u4e00q6 1674 15 the the DT cord-014712-5u4e00q6 1674 16 patients patient NNS cord-014712-5u4e00q6 1674 17 . . . cord-014712-5u4e00q6 1675 1 The the DT cord-014712-5u4e00q6 1675 2 hyper hyper NNP cord-014712-5u4e00q6 1675 3 - - JJ cord-014712-5u4e00q6 1675 4 IgE ige JJ cord-014712-5u4e00q6 1675 5 syndromes syndrome NNS cord-014712-5u4e00q6 1675 6 are be VBP cord-014712-5u4e00q6 1675 7 rare rare JJ cord-014712-5u4e00q6 1675 8 PIDs pid NNS cord-014712-5u4e00q6 1675 9 and and CC cord-014712-5u4e00q6 1675 10 are be VBP cord-014712-5u4e00q6 1675 11 characterized characterize VBN cord-014712-5u4e00q6 1675 12 by by IN cord-014712-5u4e00q6 1675 13 atopic atopic JJ cord-014712-5u4e00q6 1675 14 dermatitis dermatitis NN cord-014712-5u4e00q6 1675 15 , , , cord-014712-5u4e00q6 1675 16 skin skin NN cord-014712-5u4e00q6 1675 17 abscesses abscess NNS cord-014712-5u4e00q6 1675 18 recurrent recurrent JJ cord-014712-5u4e00q6 1675 19 pneumonias pneumonia NNS cord-014712-5u4e00q6 1675 20 , , , cord-014712-5u4e00q6 1675 21 elevated elevated JJ cord-014712-5u4e00q6 1675 22 serum serum NN cord-014712-5u4e00q6 1675 23 IgE ige NN cord-014712-5u4e00q6 1675 24 levels level NNS cord-014712-5u4e00q6 1675 25 and and CC cord-014712-5u4e00q6 1675 26 sometimes sometimes RB cord-014712-5u4e00q6 1675 27 mucocutaneous mucocutaneous JJ cord-014712-5u4e00q6 1675 28 candidiasis candidiasi NNS cord-014712-5u4e00q6 1675 29 . . . cord-014712-5u4e00q6 1676 1 We -PRON- PRP cord-014712-5u4e00q6 1676 2 have have VBP cord-014712-5u4e00q6 1676 3 been be VBN cord-014712-5u4e00q6 1676 4 evaluating evaluate VBG cord-014712-5u4e00q6 1676 5 and and CC cord-014712-5u4e00q6 1676 6 following follow VBG cord-014712-5u4e00q6 1676 7 up up RP cord-014712-5u4e00q6 1676 8 a a DT cord-014712-5u4e00q6 1676 9 group group NN cord-014712-5u4e00q6 1676 10 of of IN cord-014712-5u4e00q6 1676 11 patients patient NNS cord-014712-5u4e00q6 1676 12 with with IN cord-014712-5u4e00q6 1676 13 features feature NNS cord-014712-5u4e00q6 1676 14 suggestive suggestive JJ cord-014712-5u4e00q6 1676 15 for for IN cord-014712-5u4e00q6 1676 16 autosomal autosomal JJ cord-014712-5u4e00q6 1676 17 recessive recessive JJ cord-014712-5u4e00q6 1676 18 Hyper Hyper NNP cord-014712-5u4e00q6 1676 19 IgE IgE NNP cord-014712-5u4e00q6 1676 20 Syndrome Syndrome NNP cord-014712-5u4e00q6 1676 21 ( ( -LRB- cord-014712-5u4e00q6 1676 22 AR AR NNP cord-014712-5u4e00q6 1676 23 - - HYPH cord-014712-5u4e00q6 1676 24 HIES HIES NNP cord-014712-5u4e00q6 1676 25 ) ) -RRB- cord-014712-5u4e00q6 1676 26 . . . cord-014712-5u4e00q6 1677 1 Homozygous Homozygous NNP cord-014712-5u4e00q6 1677 2 Dock8 Dock8 NNP cord-014712-5u4e00q6 1677 3 mutations mutation NNS cord-014712-5u4e00q6 1677 4 were be VBD cord-014712-5u4e00q6 1677 5 identified identify VBN cord-014712-5u4e00q6 1677 6 in in IN cord-014712-5u4e00q6 1677 7 several several JJ cord-014712-5u4e00q6 1677 8 of of IN cord-014712-5u4e00q6 1677 9 these these DT cord-014712-5u4e00q6 1677 10 patients patient NNS cord-014712-5u4e00q6 1677 11 . . . cord-014712-5u4e00q6 1678 1 However however RB cord-014712-5u4e00q6 1678 2 , , , cord-014712-5u4e00q6 1678 3 two two CD cord-014712-5u4e00q6 1678 4 siblings sibling NNS cord-014712-5u4e00q6 1678 5 from from IN cord-014712-5u4e00q6 1678 6 a a DT cord-014712-5u4e00q6 1678 7 consanguineous consanguineous JJ cord-014712-5u4e00q6 1678 8 family family NN cord-014712-5u4e00q6 1678 9 in in IN cord-014712-5u4e00q6 1678 10 this this DT cord-014712-5u4e00q6 1678 11 group group NN cord-014712-5u4e00q6 1678 12 of of IN cord-014712-5u4e00q6 1678 13 patients patient NNS cord-014712-5u4e00q6 1678 14 showed show VBD cord-014712-5u4e00q6 1678 15 homozygous homozygous JJ cord-014712-5u4e00q6 1678 16 block block NN cord-014712-5u4e00q6 1678 17 in in IN cord-014712-5u4e00q6 1678 18 chromosome chromosome NN cord-014712-5u4e00q6 1678 19 20p1.2 20p1.2 CD cord-014712-5u4e00q6 1678 20 in in IN cord-014712-5u4e00q6 1678 21 homozygosity homozygosity NN cord-014712-5u4e00q6 1678 22 mapping mapping NN cord-014712-5u4e00q6 1678 23 which which WDT cord-014712-5u4e00q6 1678 24 includes include VBZ cord-014712-5u4e00q6 1678 25 STK4 STK4 NNP cord-014712-5u4e00q6 1678 26 gene gene NN cord-014712-5u4e00q6 1678 27 . . . cord-014712-5u4e00q6 1679 1 Sanger Sanger NNP cord-014712-5u4e00q6 1679 2 sequencing sequencing NN cord-014712-5u4e00q6 1679 3 was be VBD cord-014712-5u4e00q6 1679 4 performed perform VBN cord-014712-5u4e00q6 1679 5 for for IN cord-014712-5u4e00q6 1679 6 STK4 STK4 NNP cord-014712-5u4e00q6 1679 7 deficiency deficiency NN cord-014712-5u4e00q6 1679 8 and and CC cord-014712-5u4e00q6 1679 9 showed show VBD cord-014712-5u4e00q6 1679 10 a a DT cord-014712-5u4e00q6 1679 11 novel novel NN cord-014712-5u4e00q6 1679 12 c.57 c.57 NN cord-014712-5u4e00q6 1679 13 - - HYPH cord-014712-5u4e00q6 1679 14 60delGATA 60delgata CD cord-014712-5u4e00q6 1679 15 mutation mutation NN cord-014712-5u4e00q6 1679 16 in in IN cord-014712-5u4e00q6 1679 17 STK4 STK4 NNP cord-014712-5u4e00q6 1679 18 gene gene NN cord-014712-5u4e00q6 1679 19 causing cause VBG cord-014712-5u4e00q6 1679 20 a a DT cord-014712-5u4e00q6 1679 21 premature premature JJ cord-014712-5u4e00q6 1679 22 stop stop NN cord-014712-5u4e00q6 1679 23 codon codon NN cord-014712-5u4e00q6 1679 24 . . . cord-014712-5u4e00q6 1680 1 Clinical clinical JJ cord-014712-5u4e00q6 1680 2 manifestations manifestation NNS cord-014712-5u4e00q6 1680 3 of of IN cord-014712-5u4e00q6 1680 4 STK4 STK4 NNP cord-014712-5u4e00q6 1680 5 deficiency deficiency NN cord-014712-5u4e00q6 1680 6 , , , cord-014712-5u4e00q6 1680 7 also also RB cord-014712-5u4e00q6 1680 8 known know VBN cord-014712-5u4e00q6 1680 9 as as IN cord-014712-5u4e00q6 1680 10 a a DT cord-014712-5u4e00q6 1680 11 Macrophage macrophage NN cord-014712-5u4e00q6 1680 12 Stimulating stimulate VBG cord-014712-5u4e00q6 1680 13 1 1 CD cord-014712-5u4e00q6 1681 1 ( ( -LRB- cord-014712-5u4e00q6 1681 2 MST1 MST1 NNP cord-014712-5u4e00q6 1681 3 ) ) -RRB- cord-014712-5u4e00q6 1681 4 deficiency deficiency NN cord-014712-5u4e00q6 1681 5 , , , cord-014712-5u4e00q6 1681 6 STK4 STK4 NNP cord-014712-5u4e00q6 1681 7 deficiency deficiency NN cord-014712-5u4e00q6 1681 8 comprise comprise VBP cord-014712-5u4e00q6 1681 9 recurrent recurrent JJ cord-014712-5u4e00q6 1681 10 and and CC cord-014712-5u4e00q6 1681 11 severe severe JJ cord-014712-5u4e00q6 1681 12 viral viral JJ cord-014712-5u4e00q6 1681 13 skin skin NN cord-014712-5u4e00q6 1681 14 infections infection NNS cord-014712-5u4e00q6 1681 15 including include VBG cord-014712-5u4e00q6 1681 16 molluscum molluscum NN cord-014712-5u4e00q6 1681 17 contagiosum contagiosum NN cord-014712-5u4e00q6 1681 18 and and CC cord-014712-5u4e00q6 1681 19 warts wart NNS cord-014712-5u4e00q6 1681 20 , , , cord-014712-5u4e00q6 1681 21 fungal fungal JJ cord-014712-5u4e00q6 1681 22 and and CC cord-014712-5u4e00q6 1681 23 bacterial bacterial JJ cord-014712-5u4e00q6 1681 24 infections infection NNS cord-014712-5u4e00q6 1681 25 and and CC cord-014712-5u4e00q6 1681 26 autoimmunity autoimmunity NN cord-014712-5u4e00q6 1681 27 which which WDT cord-014712-5u4e00q6 1681 28 are be VBP cord-014712-5u4e00q6 1681 29 also also RB cord-014712-5u4e00q6 1681 30 the the DT cord-014712-5u4e00q6 1681 31 features feature NNS cord-014712-5u4e00q6 1681 32 of of IN cord-014712-5u4e00q6 1681 33 AR AR NNP cord-014712-5u4e00q6 1681 34 - - HYPH cord-014712-5u4e00q6 1681 35 HIES HIES NNP cord-014712-5u4e00q6 1681 36 . . . cord-014712-5u4e00q6 1682 1 Our -PRON- PRP$ cord-014712-5u4e00q6 1682 2 patients patient NNS cord-014712-5u4e00q6 1682 3 's 's POS cord-014712-5u4e00q6 1682 4 main main JJ cord-014712-5u4e00q6 1682 5 features feature NNS cord-014712-5u4e00q6 1682 6 include include VBP cord-014712-5u4e00q6 1682 7 autoimmune autoimmune JJ cord-014712-5u4e00q6 1682 8 cytopenias cytopenia NNS cord-014712-5u4e00q6 1682 9 ( ( -LRB- cord-014712-5u4e00q6 1682 10 AIHA AIHA NNP cord-014712-5u4e00q6 1682 11 and and CC cord-014712-5u4e00q6 1682 12 ITP ITP NNP cord-014712-5u4e00q6 1682 13 ) ) -RRB- cord-014712-5u4e00q6 1682 14 , , , cord-014712-5u4e00q6 1682 15 cutaneous cutaneous JJ cord-014712-5u4e00q6 1682 16 viral viral JJ cord-014712-5u4e00q6 1682 17 ( ( -LRB- cord-014712-5u4e00q6 1682 18 molluscum molluscum NN cord-014712-5u4e00q6 1682 19 contagiosum contagiosum NN cord-014712-5u4e00q6 1682 20 and and CC cord-014712-5u4e00q6 1682 21 mild mild JJ cord-014712-5u4e00q6 1682 22 perioral perioral JJ cord-014712-5u4e00q6 1682 23 herpetic herpetic JJ cord-014712-5u4e00q6 1682 24 lesion lesion NN cord-014712-5u4e00q6 1682 25 ) ) -RRB- cord-014712-5u4e00q6 1682 26 , , , cord-014712-5u4e00q6 1682 27 mild mild JJ cord-014712-5u4e00q6 1682 28 atopic atopic JJ cord-014712-5u4e00q6 1682 29 dermatitis dermatitis NN cord-014712-5u4e00q6 1682 30 , , , cord-014712-5u4e00q6 1682 31 seborrheic seborrheic NN cord-014712-5u4e00q6 1682 32 dermatitis dermatitis NN cord-014712-5u4e00q6 1682 33 , , , cord-014712-5u4e00q6 1682 34 lymphopenia lymphopenia NNP cord-014712-5u4e00q6 1682 35 ( ( -LRB- cord-014712-5u4e00q6 1682 36 particularly particularly RB cord-014712-5u4e00q6 1682 37 CD4 CD4 NNP cord-014712-5u4e00q6 1682 38 lymphopenia lymphopenia NNP cord-014712-5u4e00q6 1682 39 ) ) -RRB- cord-014712-5u4e00q6 1682 40 , , , cord-014712-5u4e00q6 1682 41 and and CC cord-014712-5u4e00q6 1682 42 intermittent intermittent JJ cord-014712-5u4e00q6 1682 43 mild mild JJ cord-014712-5u4e00q6 1682 44 neutropenia neutropenia NN cord-014712-5u4e00q6 1682 45 . . . cord-014712-5u4e00q6 1683 1 Serum serum NN cord-014712-5u4e00q6 1683 2 IgE IgE NNP cord-014712-5u4e00q6 1683 3 level level NN cord-014712-5u4e00q6 1683 4 was be VBD cord-014712-5u4e00q6 1683 5 mildly mildly RB cord-014712-5u4e00q6 1683 6 high high JJ cord-014712-5u4e00q6 1683 7 in in IN cord-014712-5u4e00q6 1683 8 these these DT cord-014712-5u4e00q6 1683 9 patients patient NNS cord-014712-5u4e00q6 1683 10 . . . cord-014712-5u4e00q6 1684 1 Our -PRON- PRP$ cord-014712-5u4e00q6 1684 2 results result NNS cord-014712-5u4e00q6 1684 3 indicates indicate VBZ cord-014712-5u4e00q6 1684 4 that that IN cord-014712-5u4e00q6 1684 5 patients patient NNS cord-014712-5u4e00q6 1684 6 that that WDT cord-014712-5u4e00q6 1684 7 show show VBP cord-014712-5u4e00q6 1684 8 clinical clinical JJ cord-014712-5u4e00q6 1684 9 phenotype phenotype NN cord-014712-5u4e00q6 1684 10 of of IN cord-014712-5u4e00q6 1684 11 AR AR NNP cord-014712-5u4e00q6 1684 12 - - HYPH cord-014712-5u4e00q6 1684 13 HIES HIES NNP cord-014712-5u4e00q6 1684 14 needs need VBZ cord-014712-5u4e00q6 1684 15 to to TO cord-014712-5u4e00q6 1684 16 be be VB cord-014712-5u4e00q6 1684 17 also also RB cord-014712-5u4e00q6 1684 18 evaluated evaluate VBN cord-014712-5u4e00q6 1684 19 for for IN cord-014712-5u4e00q6 1684 20 STK4 STK4 NNP cord-014712-5u4e00q6 1684 21 deficiency deficiency NN cord-014712-5u4e00q6 1684 22 . . . cord-014712-5u4e00q6 1685 1 Determination determination NN cord-014712-5u4e00q6 1685 2 of of IN cord-014712-5u4e00q6 1685 3 the the DT cord-014712-5u4e00q6 1685 4 underlying underlying JJ cord-014712-5u4e00q6 1685 5 defect defect NN cord-014712-5u4e00q6 1685 6 and and CC cord-014712-5u4e00q6 1685 7 reporting report VBG cord-014712-5u4e00q6 1685 8 the the DT cord-014712-5u4e00q6 1685 9 patients patient NNS cord-014712-5u4e00q6 1685 10 are be VBP cord-014712-5u4e00q6 1685 11 required require VBN cord-014712-5u4e00q6 1685 12 for for IN cord-014712-5u4e00q6 1685 13 the the DT cord-014712-5u4e00q6 1685 14 description description NN cord-014712-5u4e00q6 1685 15 of of IN cord-014712-5u4e00q6 1685 16 the the DT cord-014712-5u4e00q6 1685 17 phenotypic phenotypic JJ cord-014712-5u4e00q6 1685 18 spectrum spectrum NN cord-014712-5u4e00q6 1685 19 of of IN cord-014712-5u4e00q6 1685 20 PIDs pid NNS cord-014712-5u4e00q6 1685 21 and and CC cord-014712-5u4e00q6 1685 22 the the DT cord-014712-5u4e00q6 1685 23 frequency frequency NN cord-014712-5u4e00q6 1685 24 of of IN cord-014712-5u4e00q6 1685 25 these these DT cord-014712-5u4e00q6 1685 26 diseases disease NNS cord-014712-5u4e00q6 1685 27 as as RB cord-014712-5u4e00q6 1685 28 well well RB cord-014712-5u4e00q6 1685 29 as as IN cord-014712-5u4e00q6 1685 30 for for IN cord-014712-5u4e00q6 1685 31 genetic genetic JJ cord-014712-5u4e00q6 1685 32 counselling counselling NN cord-014712-5u4e00q6 1685 33 . . . cord-014712-5u4e00q6 1686 1 Mendelian mendelian JJ cord-014712-5u4e00q6 1686 2 susceptibility susceptibility NN cord-014712-5u4e00q6 1686 3 to to IN cord-014712-5u4e00q6 1686 4 mycobacterial mycobacterial NNP cord-014712-5u4e00q6 1686 5 disease disease NN cord-014712-5u4e00q6 1686 6 ( ( -LRB- cord-014712-5u4e00q6 1686 7 MSMD MSMD NNP cord-014712-5u4e00q6 1686 8 ) ) -RRB- cord-014712-5u4e00q6 1686 9 is be VBZ cord-014712-5u4e00q6 1686 10 a a DT cord-014712-5u4e00q6 1686 11 rare rare JJ cord-014712-5u4e00q6 1686 12 entity entity NN cord-014712-5u4e00q6 1686 13 . . . cord-014712-5u4e00q6 1687 1 Patients patient NNS cord-014712-5u4e00q6 1687 2 with with IN cord-014712-5u4e00q6 1687 3 MSMD MSMD NNP cord-014712-5u4e00q6 1687 4 have have VBP cord-014712-5u4e00q6 1687 5 susceptibility susceptibility NN cord-014712-5u4e00q6 1687 6 to to IN cord-014712-5u4e00q6 1687 7 Salmonella Salmonella NNP cord-014712-5u4e00q6 1687 8 and and CC cord-014712-5u4e00q6 1687 9 some some DT cord-014712-5u4e00q6 1687 10 other other JJ cord-014712-5u4e00q6 1687 11 intracellular intracellular JJ cord-014712-5u4e00q6 1687 12 microorganisms microorganism NNS cord-014712-5u4e00q6 1687 13 in in IN cord-014712-5u4e00q6 1687 14 addition addition NN cord-014712-5u4e00q6 1687 15 to to IN cord-014712-5u4e00q6 1687 16 weakly weakly RB cord-014712-5u4e00q6 1687 17 pathogenic pathogenic JJ cord-014712-5u4e00q6 1687 18 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 1687 19 species specie NNS cord-014712-5u4e00q6 1687 20 . . . cord-014712-5u4e00q6 1688 1 IL-12Rβ1 il-12rβ1 NN cord-014712-5u4e00q6 1688 2 deficiency deficiency NN cord-014712-5u4e00q6 1688 3 , , , cord-014712-5u4e00q6 1688 4 most most RBS cord-014712-5u4e00q6 1688 5 common common JJ cord-014712-5u4e00q6 1688 6 form form NN cord-014712-5u4e00q6 1688 7 of of IN cord-014712-5u4e00q6 1688 8 MSMD MSMD NNP cord-014712-5u4e00q6 1688 9 , , , cord-014712-5u4e00q6 1688 10 is be VBZ cord-014712-5u4e00q6 1688 11 caused cause VBN cord-014712-5u4e00q6 1688 12 by by IN cord-014712-5u4e00q6 1688 13 mutations mutation NNS cord-014712-5u4e00q6 1688 14 in in IN cord-014712-5u4e00q6 1688 15 the the DT cord-014712-5u4e00q6 1688 16 IL12RB IL12RB NNP cord-014712-5u4e00q6 1688 17 gene gene NN cord-014712-5u4e00q6 1688 18 . . . cord-014712-5u4e00q6 1689 1 37 37 CD cord-014712-5u4e00q6 1689 2 patients patient NNS cord-014712-5u4e00q6 1689 3 who who WP cord-014712-5u4e00q6 1689 4 have have VBP cord-014712-5u4e00q6 1689 5 symptoms symptom NNS cord-014712-5u4e00q6 1689 6 suggestive suggestive JJ cord-014712-5u4e00q6 1689 7 for for IN cord-014712-5u4e00q6 1689 8 MSMD MSMD NNP cord-014712-5u4e00q6 1689 9 or or CC cord-014712-5u4e00q6 1689 10 history history NN cord-014712-5u4e00q6 1689 11 of of IN cord-014712-5u4e00q6 1689 12 sibling sibling NN cord-014712-5u4e00q6 1689 13 death death NN cord-014712-5u4e00q6 1689 14 due due IN cord-014712-5u4e00q6 1689 15 to to IN cord-014712-5u4e00q6 1689 16 BCGosis BCGosis NNP cord-014712-5u4e00q6 1689 17 were be VBD cord-014712-5u4e00q6 1689 18 evaluated evaluate VBN cord-014712-5u4e00q6 1689 19 . . . cord-014712-5u4e00q6 1690 1 The the DT cord-014712-5u4e00q6 1690 2 expression expression NN cord-014712-5u4e00q6 1690 3 of of IN cord-014712-5u4e00q6 1690 4 the the DT cord-014712-5u4e00q6 1690 5 IL-12RB1 il-12rb1 CD cord-014712-5u4e00q6 1690 6 was be VBD cord-014712-5u4e00q6 1690 7 detected detect VBN cord-014712-5u4e00q6 1690 8 in in IN cord-014712-5u4e00q6 1690 9 patients patient NNS cord-014712-5u4e00q6 1690 10 and and CC cord-014712-5u4e00q6 1690 11 family family NN cord-014712-5u4e00q6 1690 12 members member NNS cord-014712-5u4e00q6 1690 13 by by IN cord-014712-5u4e00q6 1690 14 monoclonal monoclonal JJ cord-014712-5u4e00q6 1690 15 antibodies antibody NNS cord-014712-5u4e00q6 1690 16 on on IN cord-014712-5u4e00q6 1690 17 the the DT cord-014712-5u4e00q6 1690 18 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1690 19 surface surface NN cord-014712-5u4e00q6 1690 20 by by IN cord-014712-5u4e00q6 1690 21 flow flow NN cord-014712-5u4e00q6 1690 22 cytometry cytometry NN cord-014712-5u4e00q6 1690 23 after after IN cord-014712-5u4e00q6 1690 24 the the DT cord-014712-5u4e00q6 1690 25 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 1690 26 were be VBD cord-014712-5u4e00q6 1690 27 stimulated stimulate VBN cord-014712-5u4e00q6 1690 28 in in IN cord-014712-5u4e00q6 1690 29 vitro vitro FW cord-014712-5u4e00q6 1690 30 with with IN cord-014712-5u4e00q6 1690 31 PHA PHA NNP cord-014712-5u4e00q6 1690 32 . . . cord-014712-5u4e00q6 1691 1 Mutation mutation NN cord-014712-5u4e00q6 1691 2 analyses analysis NNS cord-014712-5u4e00q6 1691 3 was be VBD cord-014712-5u4e00q6 1691 4 done do VBN cord-014712-5u4e00q6 1691 5 by by IN cord-014712-5u4e00q6 1691 6 Sanger Sanger NNP cord-014712-5u4e00q6 1691 7 sequencing sequencing NN cord-014712-5u4e00q6 1691 8 . . . cord-014712-5u4e00q6 1692 1 All all DT cord-014712-5u4e00q6 1692 2 index index NN cord-014712-5u4e00q6 1692 3 cases case NNS cord-014712-5u4e00q6 1692 4 were be VBD cord-014712-5u4e00q6 1692 5 presented present VBN cord-014712-5u4e00q6 1692 6 either either CC cord-014712-5u4e00q6 1692 7 with with IN cord-014712-5u4e00q6 1692 8 BCG BCG NNP cord-014712-5u4e00q6 1692 9 or or CC cord-014712-5u4e00q6 1692 10 salmonella salmonella NN cord-014712-5u4e00q6 1692 11 infection infection NN cord-014712-5u4e00q6 1692 12 . . . cord-014712-5u4e00q6 1693 1 Two two CD cord-014712-5u4e00q6 1693 2 patients patient NNS cord-014712-5u4e00q6 1693 3 , , , cord-014712-5u4e00q6 1693 4 though though IN cord-014712-5u4e00q6 1693 5 they -PRON- PRP cord-014712-5u4e00q6 1693 6 were be VBD cord-014712-5u4e00q6 1693 7 BCG BCG NNP cord-014712-5u4e00q6 1693 8 vaccinated vaccinate VBN cord-014712-5u4e00q6 1693 9 had have VBD cord-014712-5u4e00q6 1693 10 no no DT cord-014712-5u4e00q6 1693 11 clinical clinical JJ cord-014712-5u4e00q6 1693 12 symptom symptom NN cord-014712-5u4e00q6 1693 13 , , , cord-014712-5u4e00q6 1693 14 six six CD cord-014712-5u4e00q6 1693 15 presented present VBN cord-014712-5u4e00q6 1693 16 with with IN cord-014712-5u4e00q6 1693 17 the the DT cord-014712-5u4e00q6 1693 18 symptoms symptom NNS cord-014712-5u4e00q6 1693 19 of of IN cord-014712-5u4e00q6 1693 20 Salmonella Salmonella NNP cord-014712-5u4e00q6 1693 21 infections infection NNS cord-014712-5u4e00q6 1693 22 , , , cord-014712-5u4e00q6 1693 23 two two CD cord-014712-5u4e00q6 1693 24 developed develop VBN cord-014712-5u4e00q6 1693 25 leukocytoclastic leukocytoclastic NNP cord-014712-5u4e00q6 1693 26 vasculitis vasculitis NN cord-014712-5u4e00q6 1693 27 , , , cord-014712-5u4e00q6 1693 28 candidiasis candidiasis NN cord-014712-5u4e00q6 1693 29 was be VBD cord-014712-5u4e00q6 1693 30 the the DT cord-014712-5u4e00q6 1693 31 accompanying accompanying JJ cord-014712-5u4e00q6 1693 32 feature feature NN cord-014712-5u4e00q6 1693 33 in in IN cord-014712-5u4e00q6 1693 34 seven seven CD cord-014712-5u4e00q6 1693 35 . . . cord-014712-5u4e00q6 1694 1 Recurrent recurrent JJ cord-014712-5u4e00q6 1694 2 Leishmaniasis Leishmaniasis NNP cord-014712-5u4e00q6 1694 3 that that WDT cord-014712-5u4e00q6 1694 4 necessitated necessitate VBD cord-014712-5u4e00q6 1694 5 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 1694 6 interferon interferon NN cord-014712-5u4e00q6 1694 7 - - HYPH cord-014712-5u4e00q6 1694 8 γ γ NN cord-014712-5u4e00q6 1694 9 and and CC cord-014712-5u4e00q6 1694 10 prophylactic prophylactic JJ cord-014712-5u4e00q6 1694 11 Amphotericine Amphotericine NNP cord-014712-5u4e00q6 1694 12 B B NNP cord-014712-5u4e00q6 1694 13 therapy therapy NN cord-014712-5u4e00q6 1694 14 was be VBD cord-014712-5u4e00q6 1694 15 present present JJ cord-014712-5u4e00q6 1694 16 in in IN cord-014712-5u4e00q6 1694 17 a a DT cord-014712-5u4e00q6 1694 18 patient patient NN cord-014712-5u4e00q6 1694 19 . . . cord-014712-5u4e00q6 1695 1 In in IN cord-014712-5u4e00q6 1695 2 all all DT cord-014712-5u4e00q6 1695 3 patients patient NNS cord-014712-5u4e00q6 1695 4 the the DT cord-014712-5u4e00q6 1695 5 percentage percentage NN cord-014712-5u4e00q6 1695 6 of of IN cord-014712-5u4e00q6 1695 7 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 1695 8 with with IN cord-014712-5u4e00q6 1695 9 IL12Rβ1 il12rβ1 NN cord-014712-5u4e00q6 1695 10 expression expression NN cord-014712-5u4e00q6 1695 11 was be VBD cord-014712-5u4e00q6 1695 12 found find VBN cord-014712-5u4e00q6 1695 13 to to TO cord-014712-5u4e00q6 1695 14 be be VB cord-014712-5u4e00q6 1695 15 less less JJR cord-014712-5u4e00q6 1695 16 than than IN cord-014712-5u4e00q6 1695 17 % % NN cord-014712-5u4e00q6 1695 18 1 1 CD cord-014712-5u4e00q6 1695 19 . . . cord-014712-5u4e00q6 1696 1 Prophylactic prophylactic JJ cord-014712-5u4e00q6 1696 2 antimycrobial antimycrobial JJ cord-014712-5u4e00q6 1696 3 treatment treatment NN cord-014712-5u4e00q6 1696 4 and and CC cord-014712-5u4e00q6 1696 5 in in IN cord-014712-5u4e00q6 1696 6 severe severe JJ cord-014712-5u4e00q6 1696 7 and and CC cord-014712-5u4e00q6 1696 8 resistant resistant JJ cord-014712-5u4e00q6 1696 9 infectious infectious JJ cord-014712-5u4e00q6 1696 10 episodes episode NNS cord-014712-5u4e00q6 1696 11 IF if NN cord-014712-5u4e00q6 1696 12 - - HYPH cord-014712-5u4e00q6 1696 13 γ γ NN cord-014712-5u4e00q6 1696 14 therapy therapy NN cord-014712-5u4e00q6 1696 15 , , , cord-014712-5u4e00q6 1696 16 should should MD cord-014712-5u4e00q6 1696 17 be be VB cord-014712-5u4e00q6 1696 18 given give VBN cord-014712-5u4e00q6 1696 19 . . . cord-014712-5u4e00q6 1697 1 Many many JJ cord-014712-5u4e00q6 1697 2 patients patient NNS cord-014712-5u4e00q6 1697 3 have have VBP cord-014712-5u4e00q6 1697 4 associated associate VBN cord-014712-5u4e00q6 1697 5 mucocutaneous mucocutaneous JJ cord-014712-5u4e00q6 1697 6 candidiasis candidiasi NNS cord-014712-5u4e00q6 1697 7 . . . cord-014712-5u4e00q6 1698 1 The the DT cord-014712-5u4e00q6 1698 2 prognosis prognosis NN cord-014712-5u4e00q6 1698 3 is be VBZ cord-014712-5u4e00q6 1698 4 good good JJ cord-014712-5u4e00q6 1698 5 unless unless IN cord-014712-5u4e00q6 1698 6 the the DT cord-014712-5u4e00q6 1698 7 patient patient NN cord-014712-5u4e00q6 1698 8 admits admit VBZ cord-014712-5u4e00q6 1698 9 at at IN cord-014712-5u4e00q6 1698 10 the the DT cord-014712-5u4e00q6 1698 11 later later JJ cord-014712-5u4e00q6 1698 12 stages stage NNS cord-014712-5u4e00q6 1698 13 of of IN cord-014712-5u4e00q6 1698 14 BCG BCG NNP cord-014712-5u4e00q6 1698 15 infection infection NN cord-014712-5u4e00q6 1698 16 . . . cord-014712-5u4e00q6 1699 1 The the DT cord-014712-5u4e00q6 1699 2 results result NNS cord-014712-5u4e00q6 1699 3 of of IN cord-014712-5u4e00q6 1699 4 our -PRON- PRP$ cord-014712-5u4e00q6 1699 5 patients patient NNS cord-014712-5u4e00q6 1699 6 showed show VBD cord-014712-5u4e00q6 1699 7 that that IN cord-014712-5u4e00q6 1699 8 the the DT cord-014712-5u4e00q6 1699 9 analysis analysis NN cord-014712-5u4e00q6 1699 10 of of IN cord-014712-5u4e00q6 1699 11 the the DT cord-014712-5u4e00q6 1699 12 surface surface NN cord-014712-5u4e00q6 1699 13 expression expression NN cord-014712-5u4e00q6 1699 14 of of IN cord-014712-5u4e00q6 1699 15 IL12Rβ1 il12rβ1 NN cord-014712-5u4e00q6 1699 16 on on IN cord-014712-5u4e00q6 1699 17 activated activate VBN cord-014712-5u4e00q6 1699 18 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 1699 19 is be VBZ cord-014712-5u4e00q6 1699 20 an an DT cord-014712-5u4e00q6 1699 21 effective effective JJ cord-014712-5u4e00q6 1699 22 diagnostic diagnostic JJ cord-014712-5u4e00q6 1699 23 method method NN cord-014712-5u4e00q6 1699 24 which which WDT cord-014712-5u4e00q6 1699 25 can can MD cord-014712-5u4e00q6 1699 26 also also RB cord-014712-5u4e00q6 1699 27 be be VB cord-014712-5u4e00q6 1699 28 used use VBN cord-014712-5u4e00q6 1699 29 in in IN cord-014712-5u4e00q6 1699 30 screening screening NN cord-014712-5u4e00q6 1699 31 of of IN cord-014712-5u4e00q6 1699 32 the the DT cord-014712-5u4e00q6 1699 33 patients patient NNS cord-014712-5u4e00q6 1699 34 with with IN cord-014712-5u4e00q6 1699 35 probable probable JJ cord-014712-5u4e00q6 1699 36 MSMD MSMD NNP cord-014712-5u4e00q6 1699 37 . . . cord-014712-5u4e00q6 1700 1 Ataxia ataxia NN cord-014712-5u4e00q6 1700 2 - - HYPH cord-014712-5u4e00q6 1700 3 telangiectasia telangiectasia NN cord-014712-5u4e00q6 1700 4 ( ( -LRB- cord-014712-5u4e00q6 1700 5 A A NNP cord-014712-5u4e00q6 1700 6 - - HYPH cord-014712-5u4e00q6 1700 7 T T NNP cord-014712-5u4e00q6 1700 8 ) ) -RRB- cord-014712-5u4e00q6 1700 9 results result VBZ cord-014712-5u4e00q6 1700 10 from from IN cord-014712-5u4e00q6 1700 11 the the DT cord-014712-5u4e00q6 1700 12 loss loss NN cord-014712-5u4e00q6 1700 13 of of IN cord-014712-5u4e00q6 1700 14 ataxia ataxia NN cord-014712-5u4e00q6 1700 15 - - HYPH cord-014712-5u4e00q6 1700 16 telangiectasia telangiectasia NN cord-014712-5u4e00q6 1700 17 mutated mutate VBN cord-014712-5u4e00q6 1700 18 gene gene NN cord-014712-5u4e00q6 1700 19 ( ( -LRB- cord-014712-5u4e00q6 1700 20 ATM ATM NNP cord-014712-5u4e00q6 1700 21 ) ) -RRB- cord-014712-5u4e00q6 1700 22 function function NN cord-014712-5u4e00q6 1700 23 and and CC cord-014712-5u4e00q6 1700 24 is be VBZ cord-014712-5u4e00q6 1700 25 a a DT cord-014712-5u4e00q6 1700 26 heterogeneous heterogeneous JJ cord-014712-5u4e00q6 1700 27 , , , cord-014712-5u4e00q6 1700 28 multisystemic multisystemic JJ cord-014712-5u4e00q6 1700 29 disease disease NN cord-014712-5u4e00q6 1700 30 and and CC cord-014712-5u4e00q6 1700 31 characterized characterize VBN cord-014712-5u4e00q6 1700 32 by by IN cord-014712-5u4e00q6 1700 33 accelerated accelerated JJ cord-014712-5u4e00q6 1700 34 telomere telomere NN cord-014712-5u4e00q6 1700 35 loss loss NN cord-014712-5u4e00q6 1700 36 , , , cord-014712-5u4e00q6 1700 37 genomic genomic JJ cord-014712-5u4e00q6 1700 38 instability instability NN cord-014712-5u4e00q6 1700 39 , , , cord-014712-5u4e00q6 1700 40 progressive progressive JJ cord-014712-5u4e00q6 1700 41 neurological neurological JJ cord-014712-5u4e00q6 1700 42 degeneration degeneration NN cord-014712-5u4e00q6 1700 43 , , , cord-014712-5u4e00q6 1700 44 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1700 45 , , , cord-014712-5u4e00q6 1700 46 premature premature JJ cord-014712-5u4e00q6 1700 47 ageing ageing NN cord-014712-5u4e00q6 1700 48 and and CC cord-014712-5u4e00q6 1700 49 increased increase VBN cord-014712-5u4e00q6 1700 50 neoplasia neoplasia NN cord-014712-5u4e00q6 1700 51 incidence incidence NN cord-014712-5u4e00q6 1700 52 . . . cord-014712-5u4e00q6 1701 1 Even even RB cord-014712-5u4e00q6 1701 2 in in IN cord-014712-5u4e00q6 1701 3 classic classic JJ cord-014712-5u4e00q6 1701 4 A A NNP cord-014712-5u4e00q6 1701 5 - - HYPH cord-014712-5u4e00q6 1701 6 T t NN cord-014712-5u4e00q6 1701 7 with with IN cord-014712-5u4e00q6 1701 8 ataxia ataxia NN cord-014712-5u4e00q6 1701 9 and and CC cord-014712-5u4e00q6 1701 10 telangiectasia telangiectasia NN cord-014712-5u4e00q6 1701 11 , , , cord-014712-5u4e00q6 1701 12 the the DT cord-014712-5u4e00q6 1701 13 onset onset NN cord-014712-5u4e00q6 1701 14 of of IN cord-014712-5u4e00q6 1701 15 clinical clinical JJ cord-014712-5u4e00q6 1701 16 symptoms symptom NNS cord-014712-5u4e00q6 1701 17 and and CC cord-014712-5u4e00q6 1701 18 the the DT cord-014712-5u4e00q6 1701 19 rate rate NN cord-014712-5u4e00q6 1701 20 of of IN cord-014712-5u4e00q6 1701 21 progression progression NN cord-014712-5u4e00q6 1701 22 are be VBP cord-014712-5u4e00q6 1701 23 variable variable JJ cord-014712-5u4e00q6 1701 24 . . . cord-014712-5u4e00q6 1702 1 Here here RB cord-014712-5u4e00q6 1702 2 , , , cord-014712-5u4e00q6 1702 3 we -PRON- PRP cord-014712-5u4e00q6 1702 4 report report VBP cord-014712-5u4e00q6 1702 5 two two CD cord-014712-5u4e00q6 1702 6 siblings sibling NNS cord-014712-5u4e00q6 1702 7 was be VBD cord-014712-5u4e00q6 1702 8 diagnosed diagnose VBN cord-014712-5u4e00q6 1702 9 as as IN cord-014712-5u4e00q6 1702 10 A A NNP cord-014712-5u4e00q6 1702 11 - - HYPH cord-014712-5u4e00q6 1702 12 T t NN cord-014712-5u4e00q6 1702 13 with with IN cord-014712-5u4e00q6 1702 14 severe severe JJ cord-014712-5u4e00q6 1702 15 and and CC cord-014712-5u4e00q6 1702 16 early early JJ cord-014712-5u4e00q6 1702 17 hypogamaglobulinemia hypogamaglobulinemia NN cord-014712-5u4e00q6 1702 18 , , , cord-014712-5u4e00q6 1702 19 decreased decrease VBD cord-014712-5u4e00q6 1702 20 CD19 CD19 NNP cord-014712-5u4e00q6 1702 21 , , , cord-014712-5u4e00q6 1702 22 increased increase VBD cord-014712-5u4e00q6 1702 23 CD45RO CD45RO NNP cord-014712-5u4e00q6 1702 24 , , , cord-014712-5u4e00q6 1702 25 no no DT cord-014712-5u4e00q6 1702 26 ataxia ataxia NN cord-014712-5u4e00q6 1702 27 and and CC cord-014712-5u4e00q6 1702 28 telangiectasia telangiectasia NN cord-014712-5u4e00q6 1702 29 , , , cord-014712-5u4e00q6 1702 30 purulent purulent JJ cord-014712-5u4e00q6 1702 31 otitis otitis NN cord-014712-5u4e00q6 1702 32 and and CC cord-014712-5u4e00q6 1702 33 hemophagocytosis hemophagocytosis NN cord-014712-5u4e00q6 1702 34 that that WDT cord-014712-5u4e00q6 1702 35 harbor harbor VBP cord-014712-5u4e00q6 1702 36 a a DT cord-014712-5u4e00q6 1702 37 rare rare JJ cord-014712-5u4e00q6 1702 38 frameshift frameshift NN cord-014712-5u4e00q6 1702 39 mutation mutation NN cord-014712-5u4e00q6 1702 40 of of IN cord-014712-5u4e00q6 1702 41 ATM atm NN cord-014712-5u4e00q6 1702 42 gene gene NN cord-014712-5u4e00q6 1702 43 . . . cord-014712-5u4e00q6 1703 1 Özdemir Özdemir NNP cord-014712-5u4e00q6 1703 2 Öner Öner NNP cord-014712-5u4e00q6 1703 3 1 1 CD cord-014712-5u4e00q6 1703 4 ; ; : cord-014712-5u4e00q6 1703 5 Bozdoğan Bozdoğan NNP cord-014712-5u4e00q6 1703 6 Sıla Sıla NNP cord-014712-5u4e00q6 1703 7 2 2 CD cord-014712-5u4e00q6 1703 8 1 1 CD cord-014712-5u4e00q6 1703 9 Department Department NNP cord-014712-5u4e00q6 1703 10 of of IN cord-014712-5u4e00q6 1703 11 Pediatrics Pediatrics NNP cord-014712-5u4e00q6 1703 12 , , , cord-014712-5u4e00q6 1703 13 Division Division NNP cord-014712-5u4e00q6 1703 14 of of IN cord-014712-5u4e00q6 1703 15 Allergy Allergy NNP cord-014712-5u4e00q6 1703 16 / / SYM cord-014712-5u4e00q6 1703 17 Immunology Immunology NNP cord-014712-5u4e00q6 1703 18 , , , cord-014712-5u4e00q6 1703 19 Sakarya Sakarya NNP cord-014712-5u4e00q6 1703 20 University University NNP cord-014712-5u4e00q6 1703 21 , , , cord-014712-5u4e00q6 1703 22 Medical Medical NNP cord-014712-5u4e00q6 1703 23 Faculty Faculty NNP cord-014712-5u4e00q6 1703 24 , , , cord-014712-5u4e00q6 1703 25 Adapazarı Adapazarı NNP cord-014712-5u4e00q6 1703 26 , , , cord-014712-5u4e00q6 1703 27 Türkiye Türkiye NNP cord-014712-5u4e00q6 1703 28 . . . cord-014712-5u4e00q6 1704 1 2 2 LS cord-014712-5u4e00q6 1704 2 Department Department NNP cord-014712-5u4e00q6 1704 3 of of IN cord-014712-5u4e00q6 1704 4 Pediatrics Pediatrics NNP cord-014712-5u4e00q6 1704 5 , , , cord-014712-5u4e00q6 1704 6 Sakarya Sakarya NNP cord-014712-5u4e00q6 1704 7 University University NNP cord-014712-5u4e00q6 1704 8 , , , cord-014712-5u4e00q6 1704 9 Medical Medical NNP cord-014712-5u4e00q6 1704 10 Faculty Faculty NNP cord-014712-5u4e00q6 1704 11 , , , cord-014712-5u4e00q6 1704 12 Adapazarı Adapazarı NNP cord-014712-5u4e00q6 1704 13 , , , cord-014712-5u4e00q6 1704 14 Türkiye Türkiye NNP cord-014712-5u4e00q6 1704 15 . . . cord-014712-5u4e00q6 1705 1 Background background NN cord-014712-5u4e00q6 1705 2 : : : cord-014712-5u4e00q6 1706 1 The the DT cord-014712-5u4e00q6 1706 2 acquisition acquisition NN cord-014712-5u4e00q6 1706 3 of of IN cord-014712-5u4e00q6 1706 4 new new JJ cord-014712-5u4e00q6 1706 5 food food NN cord-014712-5u4e00q6 1706 6 allergy allergy NN cord-014712-5u4e00q6 1706 7 after after IN cord-014712-5u4e00q6 1706 8 transplantation transplantation NN cord-014712-5u4e00q6 1706 9 or or CC cord-014712-5u4e00q6 1706 10 transplant transplant NN cord-014712-5u4e00q6 1706 11 - - HYPH cord-014712-5u4e00q6 1706 12 acquired acquire VBN cord-014712-5u4e00q6 1706 13 food food NN cord-014712-5u4e00q6 1706 14 allergy allergy NN cord-014712-5u4e00q6 1706 15 ( ( -LRB- cord-014712-5u4e00q6 1706 16 TAFA TAFA NNP cord-014712-5u4e00q6 1706 17 ) ) -RRB- cord-014712-5u4e00q6 1706 18 is be VBZ cord-014712-5u4e00q6 1706 19 usually usually RB cord-014712-5u4e00q6 1706 20 reported report VBN cord-014712-5u4e00q6 1706 21 in in IN cord-014712-5u4e00q6 1706 22 adults adult NNS cord-014712-5u4e00q6 1706 23 and and CC cord-014712-5u4e00q6 1706 24 rarely rarely RB cord-014712-5u4e00q6 1706 25 in in IN cord-014712-5u4e00q6 1706 26 children child NNS cord-014712-5u4e00q6 1706 27 . . . cord-014712-5u4e00q6 1707 1 TAFA TAFA NNP cord-014712-5u4e00q6 1707 2 is be VBZ cord-014712-5u4e00q6 1707 3 described describe VBN cord-014712-5u4e00q6 1707 4 mainly mainly RB cord-014712-5u4e00q6 1707 5 after after IN cord-014712-5u4e00q6 1707 6 liver liver NN cord-014712-5u4e00q6 1707 7 , , , cord-014712-5u4e00q6 1707 8 but but CC cord-014712-5u4e00q6 1707 9 also also RB cord-014712-5u4e00q6 1707 10 after after IN cord-014712-5u4e00q6 1707 11 small small JJ cord-014712-5u4e00q6 1707 12 bowel bowel NN cord-014712-5u4e00q6 1707 13 / / SYM cord-014712-5u4e00q6 1707 14 intestinal intestinal JJ cord-014712-5u4e00q6 1707 15 , , , cord-014712-5u4e00q6 1707 16 lung lung NN cord-014712-5u4e00q6 1707 17 and and CC cord-014712-5u4e00q6 1707 18 heart heart NN cord-014712-5u4e00q6 1707 19 transplantations transplantation NNS cord-014712-5u4e00q6 1707 20 . . . cord-014712-5u4e00q6 1708 1 In in IN cord-014712-5u4e00q6 1708 2 different different JJ cord-014712-5u4e00q6 1708 3 studies study NNS cord-014712-5u4e00q6 1708 4 , , , cord-014712-5u4e00q6 1708 5 the the DT cord-014712-5u4e00q6 1708 6 male male JJ cord-014712-5u4e00q6 1708 7 / / SYM cord-014712-5u4e00q6 1708 8 female female JJ cord-014712-5u4e00q6 1708 9 ratio ratio NN cord-014712-5u4e00q6 1708 10 is be VBZ cord-014712-5u4e00q6 1708 11 equal equal JJ cord-014712-5u4e00q6 1708 12 . . . cord-014712-5u4e00q6 1709 1 Literature literature NN cord-014712-5u4e00q6 1709 2 data datum NNS cord-014712-5u4e00q6 1709 3 suggest suggest VBP cord-014712-5u4e00q6 1709 4 that that IN cord-014712-5u4e00q6 1709 5 children child NNS cord-014712-5u4e00q6 1709 6 with with IN cord-014712-5u4e00q6 1709 7 TAFA TAFA NNP cord-014712-5u4e00q6 1709 8 typically typically RB cord-014712-5u4e00q6 1709 9 present present VBP cord-014712-5u4e00q6 1709 10 within within IN cord-014712-5u4e00q6 1709 11 the the DT cord-014712-5u4e00q6 1709 12 first first JJ cord-014712-5u4e00q6 1709 13 year year NN cord-014712-5u4e00q6 1709 14 after after IN cord-014712-5u4e00q6 1709 15 surgery surgery NN cord-014712-5u4e00q6 1710 1 and and CC cord-014712-5u4e00q6 1710 2 they -PRON- PRP cord-014712-5u4e00q6 1710 3 are be VBP cord-014712-5u4e00q6 1710 4 typically typically RB cord-014712-5u4e00q6 1710 5 allergic allergic JJ cord-014712-5u4e00q6 1710 6 to to IN cord-014712-5u4e00q6 1710 7 multiple multiple JJ cord-014712-5u4e00q6 1710 8 foods food NNS cord-014712-5u4e00q6 1710 9 . . . cord-014712-5u4e00q6 1711 1 Aim aim VB cord-014712-5u4e00q6 1711 2 : : : cord-014712-5u4e00q6 1712 1 TAFA TAFA NNP cord-014712-5u4e00q6 1712 2 is be VBZ cord-014712-5u4e00q6 1712 3 generally generally RB cord-014712-5u4e00q6 1712 4 characterized characterize VBN cord-014712-5u4e00q6 1712 5 with with IN cord-014712-5u4e00q6 1712 6 allergy allergy NN cord-014712-5u4e00q6 1712 7 to to IN cord-014712-5u4e00q6 1712 8 multiple multiple JJ cord-014712-5u4e00q6 1712 9 foods food NNS cord-014712-5u4e00q6 1712 10 and and CC cord-014712-5u4e00q6 1712 11 increased increase VBN cord-014712-5u4e00q6 1712 12 level level NN cord-014712-5u4e00q6 1712 13 of of IN cord-014712-5u4e00q6 1712 14 total total NN cord-014712-5u4e00q6 1712 15 and/or and/or CC cord-014712-5u4e00q6 1712 16 spesific spesific JJ cord-014712-5u4e00q6 1712 17 IgE. ige. NN cord-014712-5u4e00q6 1713 1 Here here RB cord-014712-5u4e00q6 1713 2 , , , cord-014712-5u4e00q6 1713 3 a a DT cord-014712-5u4e00q6 1713 4 patient patient NN cord-014712-5u4e00q6 1714 1 although although IN cord-014712-5u4e00q6 1714 2 who who WP cord-014712-5u4e00q6 1714 3 had have VBD cord-014712-5u4e00q6 1714 4 normal normal JJ cord-014712-5u4e00q6 1714 5 total total NN cord-014712-5u4e00q6 1714 6 . . . cord-014712-5u4e00q6 1715 1 IgE IgE NNP cord-014712-5u4e00q6 1715 2 and and CC cord-014712-5u4e00q6 1715 3 specific specific NNP cord-014712-5u4e00q6 1715 4 IgE IgE NNP cord-014712-5u4e00q6 1715 5 test test NN cord-014712-5u4e00q6 1715 6 results result NNS cord-014712-5u4e00q6 1715 7 , , , cord-014712-5u4e00q6 1715 8 he -PRON- PRP cord-014712-5u4e00q6 1715 9 developed develop VBD cord-014712-5u4e00q6 1715 10 reaction reaction NN cord-014712-5u4e00q6 1715 11 to to IN cord-014712-5u4e00q6 1715 12 skin skin NN cord-014712-5u4e00q6 1715 13 prick prick NN cord-014712-5u4e00q6 1715 14 test test NN cord-014712-5u4e00q6 1715 15 for for IN cord-014712-5u4e00q6 1715 16 cow cow NN cord-014712-5u4e00q6 1715 17 's 's POS cord-014712-5u4e00q6 1715 18 milk milk NN cord-014712-5u4e00q6 1715 19 is be VBZ cord-014712-5u4e00q6 1715 20 presented present VBN cord-014712-5u4e00q6 1715 21 and and CC cord-014712-5u4e00q6 1715 22 his -PRON- PRP$ cord-014712-5u4e00q6 1715 23 clinical clinical JJ cord-014712-5u4e00q6 1715 24 presentation presentation NN cord-014712-5u4e00q6 1715 25 will will MD cord-014712-5u4e00q6 1715 26 be be VB cord-014712-5u4e00q6 1715 27 discussed discuss VBN cord-014712-5u4e00q6 1715 28 . . . cord-014712-5u4e00q6 1716 1 Case case NN cord-014712-5u4e00q6 1716 2 presentation presentation NN cord-014712-5u4e00q6 1716 3 : : : cord-014712-5u4e00q6 1717 1 15 15 CD cord-014712-5u4e00q6 1717 2 month month NN cord-014712-5u4e00q6 1717 3 - - HYPH cord-014712-5u4e00q6 1717 4 old old JJ cord-014712-5u4e00q6 1717 5 - - HYPH cord-014712-5u4e00q6 1717 6 boy boy NN cord-014712-5u4e00q6 1717 7 came come VBD cord-014712-5u4e00q6 1717 8 to to IN cord-014712-5u4e00q6 1717 9 our -PRON- PRP$ cord-014712-5u4e00q6 1717 10 allergy allergy NN cord-014712-5u4e00q6 1717 11 clinic clinic NN cord-014712-5u4e00q6 1717 12 with with IN cord-014712-5u4e00q6 1717 13 complaints complaint NNS cord-014712-5u4e00q6 1717 14 of of IN cord-014712-5u4e00q6 1717 15 vomiting vomit VBG cord-014712-5u4e00q6 1717 16 after after IN cord-014712-5u4e00q6 1717 17 drinking drink VBG cord-014712-5u4e00q6 1717 18 cow cow NN cord-014712-5u4e00q6 1717 19 's 's POS cord-014712-5u4e00q6 1717 20 milk milk NN cord-014712-5u4e00q6 1717 21 and and CC cord-014712-5u4e00q6 1717 22 skin skin NN cord-014712-5u4e00q6 1717 23 rush rush NN cord-014712-5u4e00q6 1717 24 on on IN cord-014712-5u4e00q6 1717 25 the the DT cord-014712-5u4e00q6 1717 26 area area NN cord-014712-5u4e00q6 1717 27 where where WRB cord-014712-5u4e00q6 1717 28 contact contact NN cord-014712-5u4e00q6 1717 29 ed ed NN cord-014712-5u4e00q6 1717 30 with with IN cord-014712-5u4e00q6 1717 31 chocolate chocolate NN cord-014712-5u4e00q6 1717 32 . . . cord-014712-5u4e00q6 1718 1 In in IN cord-014712-5u4e00q6 1718 2 his -PRON- PRP$ cord-014712-5u4e00q6 1718 3 past past JJ cord-014712-5u4e00q6 1718 4 medical medical JJ cord-014712-5u4e00q6 1718 5 histroy histroy NN cord-014712-5u4e00q6 1718 6 , , , cord-014712-5u4e00q6 1718 7 left leave VBD cord-014712-5u4e00q6 1718 8 lateral lateral JJ cord-014712-5u4e00q6 1718 9 segment segment NN cord-014712-5u4e00q6 1718 10 of of IN cord-014712-5u4e00q6 1718 11 liver liver NN cord-014712-5u4e00q6 1718 12 ( ( -LRB- cord-014712-5u4e00q6 1718 13 donor donor NN cord-014712-5u4e00q6 1718 14 was be VBD cord-014712-5u4e00q6 1718 15 his -PRON- PRP$ cord-014712-5u4e00q6 1718 16 mother mother NN cord-014712-5u4e00q6 1718 17 ) ) -RRB- cord-014712-5u4e00q6 1718 18 was be VBD cord-014712-5u4e00q6 1718 19 transplanted transplant VBN cord-014712-5u4e00q6 1718 20 to to IN cord-014712-5u4e00q6 1718 21 him -PRON- PRP cord-014712-5u4e00q6 1718 22 when when WRB cord-014712-5u4e00q6 1718 23 he -PRON- PRP cord-014712-5u4e00q6 1718 24 was be VBD cord-014712-5u4e00q6 1718 25 at at IN cord-014712-5u4e00q6 1718 26 5 5 CD cord-014712-5u4e00q6 1718 27 months month NNS cord-014712-5u4e00q6 1718 28 . . . cord-014712-5u4e00q6 1719 1 The the DT cord-014712-5u4e00q6 1719 2 liver liver NN cord-014712-5u4e00q6 1719 3 donor donor NN cord-014712-5u4e00q6 1719 4 was be VBD cord-014712-5u4e00q6 1719 5 not not RB cord-014712-5u4e00q6 1719 6 recorded record VBN cord-014712-5u4e00q6 1719 7 as as IN cord-014712-5u4e00q6 1719 8 having have VBG cord-014712-5u4e00q6 1719 9 a a DT cord-014712-5u4e00q6 1719 10 history history NN cord-014712-5u4e00q6 1719 11 of of IN cord-014712-5u4e00q6 1719 12 allergic allergic JJ cord-014712-5u4e00q6 1719 13 disease disease NN cord-014712-5u4e00q6 1719 14 . . . cord-014712-5u4e00q6 1720 1 Methylprednisolone Methylprednisolone NNP cord-014712-5u4e00q6 1720 2 and and CC cord-014712-5u4e00q6 1720 3 tacrolimus tacrolimus NN cord-014712-5u4e00q6 1720 4 immunosuppression immunosuppression NN cord-014712-5u4e00q6 1720 5 were be VBD cord-014712-5u4e00q6 1720 6 used use VBN cord-014712-5u4e00q6 1720 7 after after IN cord-014712-5u4e00q6 1720 8 the the DT cord-014712-5u4e00q6 1720 9 transplantation transplantation NN cord-014712-5u4e00q6 1720 10 , , , cord-014712-5u4e00q6 1720 11 and and CC cord-014712-5u4e00q6 1720 12 tacrolimus tacrolimus NN cord-014712-5u4e00q6 1720 13 therapy therapy NN cord-014712-5u4e00q6 1720 14 was be VBD cord-014712-5u4e00q6 1720 15 continued continue VBN cord-014712-5u4e00q6 1720 16 for for IN cord-014712-5u4e00q6 1720 17 prophylaxis prophylaxis NN cord-014712-5u4e00q6 1720 18 of of IN cord-014712-5u4e00q6 1720 19 chronic chronic JJ cord-014712-5u4e00q6 1720 20 rejection rejection NN cord-014712-5u4e00q6 1720 21 . . . cord-014712-5u4e00q6 1721 1 When when WRB cord-014712-5u4e00q6 1721 2 he -PRON- PRP cord-014712-5u4e00q6 1721 3 was be VBD cord-014712-5u4e00q6 1721 4 at at IN cord-014712-5u4e00q6 1721 5 7 7 CD cord-014712-5u4e00q6 1721 6 months month NNS cord-014712-5u4e00q6 1721 7 , , , cord-014712-5u4e00q6 1721 8 family family NN cord-014712-5u4e00q6 1721 9 fed feed VBD cord-014712-5u4e00q6 1721 10 the the DT cord-014712-5u4e00q6 1721 11 patient patient NN cord-014712-5u4e00q6 1721 12 with with IN cord-014712-5u4e00q6 1721 13 cow cow NN cord-014712-5u4e00q6 1721 14 's 's POS cord-014712-5u4e00q6 1721 15 milk milk NN cord-014712-5u4e00q6 1721 16 but but CC cord-014712-5u4e00q6 1721 17 3 3 CD cord-014712-5u4e00q6 1721 18 hours hour NNS cord-014712-5u4e00q6 1721 19 later later RBR cord-014712-5u4e00q6 1721 20 he -PRON- PRP cord-014712-5u4e00q6 1721 21 began begin VBD cord-014712-5u4e00q6 1721 22 to to TO cord-014712-5u4e00q6 1721 23 vomit vomit VB cord-014712-5u4e00q6 1721 24 . . . cord-014712-5u4e00q6 1722 1 He -PRON- PRP cord-014712-5u4e00q6 1722 2 vomited vomit VBD cord-014712-5u4e00q6 1722 3 five five CD cord-014712-5u4e00q6 1722 4 times time NNS cord-014712-5u4e00q6 1722 5 in in IN cord-014712-5u4e00q6 1722 6 two two CD cord-014712-5u4e00q6 1722 7 hours hour NNS cord-014712-5u4e00q6 1722 8 . . . cord-014712-5u4e00q6 1723 1 Then then RB cord-014712-5u4e00q6 1723 2 , , , cord-014712-5u4e00q6 1723 3 he -PRON- PRP cord-014712-5u4e00q6 1723 4 developed develop VBD cord-014712-5u4e00q6 1723 5 constipation constipation NN cord-014712-5u4e00q6 1723 6 . . . cord-014712-5u4e00q6 1724 1 Rectal rectal JJ cord-014712-5u4e00q6 1724 2 irrigation irrigation NN cord-014712-5u4e00q6 1724 3 was be VBD cord-014712-5u4e00q6 1724 4 used use VBN cord-014712-5u4e00q6 1724 5 . . . cord-014712-5u4e00q6 1725 1 Then then RB cord-014712-5u4e00q6 1725 2 oral oral JJ cord-014712-5u4e00q6 1725 3 intake intake NN cord-014712-5u4e00q6 1725 4 stopped stop VBD cord-014712-5u4e00q6 1725 5 for for IN cord-014712-5u4e00q6 1725 6 two two CD cord-014712-5u4e00q6 1725 7 days day NNS cord-014712-5u4e00q6 1725 8 . . . cord-014712-5u4e00q6 1726 1 He -PRON- PRP cord-014712-5u4e00q6 1726 2 was be VBD cord-014712-5u4e00q6 1726 3 thought think VBN cord-014712-5u4e00q6 1726 4 to to TO cord-014712-5u4e00q6 1726 5 be be VB cord-014712-5u4e00q6 1726 6 having have VBG cord-014712-5u4e00q6 1726 7 food food NN cord-014712-5u4e00q6 1726 8 protein protein NN cord-014712-5u4e00q6 1726 9 induced induce VBN cord-014712-5u4e00q6 1726 10 enterocolitis enterocolitis NN cord-014712-5u4e00q6 1726 11 . . . cord-014712-5u4e00q6 1727 1 His -PRON- PRP$ cord-014712-5u4e00q6 1727 2 vomiting vomiting NN cord-014712-5u4e00q6 1727 3 complaints complaint NNS cord-014712-5u4e00q6 1727 4 repeated repeat VBN cord-014712-5u4e00q6 1727 5 after after IN cord-014712-5u4e00q6 1727 6 intake intake NN cord-014712-5u4e00q6 1727 7 of of IN cord-014712-5u4e00q6 1727 8 formula formula NN cord-014712-5u4e00q6 1727 9 and and CC cord-014712-5u4e00q6 1727 10 baby baby NN cord-014712-5u4e00q6 1727 11 food food NN cord-014712-5u4e00q6 1727 12 which which WDT cord-014712-5u4e00q6 1727 13 include include VBP cord-014712-5u4e00q6 1727 14 grain grain NN cord-014712-5u4e00q6 1727 15 . . . cord-014712-5u4e00q6 1728 1 So so RB cord-014712-5u4e00q6 1728 2 he -PRON- PRP cord-014712-5u4e00q6 1728 3 fed feed VBD cord-014712-5u4e00q6 1728 4 with with IN cord-014712-5u4e00q6 1728 5 special special JJ cord-014712-5u4e00q6 1728 6 formula formula NN cord-014712-5u4e00q6 1728 7 including include VBG cord-014712-5u4e00q6 1728 8 short short JJ cord-014712-5u4e00q6 1728 9 - - HYPH cord-014712-5u4e00q6 1728 10 chain chain NN cord-014712-5u4e00q6 1728 11 peptides peptide NNS cord-014712-5u4e00q6 1728 12 and and CC cord-014712-5u4e00q6 1728 13 free free JJ cord-014712-5u4e00q6 1728 14 aminoacids aminoacid NNS cord-014712-5u4e00q6 1728 15 and and CC cord-014712-5u4e00q6 1728 16 his -PRON- PRP$ cord-014712-5u4e00q6 1728 17 symptoms symptom NNS cord-014712-5u4e00q6 1728 18 improved improve VBD cord-014712-5u4e00q6 1728 19 . . . cord-014712-5u4e00q6 1729 1 Past past JJ cord-014712-5u4e00q6 1729 2 medical medical JJ cord-014712-5u4e00q6 1729 3 history history NN cord-014712-5u4e00q6 1729 4 : : : cord-014712-5u4e00q6 1729 5 Extrahepatic extrahepatic JJ cord-014712-5u4e00q6 1729 6 biliary biliary JJ cord-014712-5u4e00q6 1729 7 atresia atresia NN cord-014712-5u4e00q6 1729 8 was be VBD cord-014712-5u4e00q6 1729 9 diagnosed diagnose VBN cord-014712-5u4e00q6 1729 10 at at IN cord-014712-5u4e00q6 1729 11 3 3 CD cord-014712-5u4e00q6 1729 12 weeks week NNS cord-014712-5u4e00q6 1729 13 age age NN cord-014712-5u4e00q6 1729 14 with with IN cord-014712-5u4e00q6 1729 15 conjugated conjugate VBN cord-014712-5u4e00q6 1729 16 hyperbilirubinemia hyperbilirubinemia NNP cord-014712-5u4e00q6 1729 17 ( ( -LRB- cord-014712-5u4e00q6 1729 18 according accord VBG cord-014712-5u4e00q6 1729 19 to to IN cord-014712-5u4e00q6 1729 20 scintigraphy scintigraphy NN cord-014712-5u4e00q6 1729 21 and and CC cord-014712-5u4e00q6 1729 22 biopsy biopsy NN cord-014712-5u4e00q6 1729 23 results result NNS cord-014712-5u4e00q6 1729 24 ) ) -RRB- cord-014712-5u4e00q6 1729 25 . . . cord-014712-5u4e00q6 1730 1 Family family NN cord-014712-5u4e00q6 1730 2 history history NN cord-014712-5u4e00q6 1730 3 : : : cord-014712-5u4e00q6 1731 1 His -PRON- PRP$ cord-014712-5u4e00q6 1731 2 father father NN cord-014712-5u4e00q6 1731 3 has have VBZ cord-014712-5u4e00q6 1731 4 penicillin penicillin NN cord-014712-5u4e00q6 1731 5 allergy allergy NN cord-014712-5u4e00q6 1731 6 and and CC cord-014712-5u4e00q6 1731 7 his -PRON- PRP$ cord-014712-5u4e00q6 1731 8 aunt aunt NN cord-014712-5u4e00q6 1731 9 has have VBZ cord-014712-5u4e00q6 1731 10 asthma asthma NN cord-014712-5u4e00q6 1731 11 . . . cord-014712-5u4e00q6 1732 1 At at IN cord-014712-5u4e00q6 1732 2 our -PRON- PRP$ cord-014712-5u4e00q6 1732 3 outpatient outpatient NN cord-014712-5u4e00q6 1732 4 clinic clinic NN cord-014712-5u4e00q6 1732 5 : : : cord-014712-5u4e00q6 1732 6 Height height NN cord-014712-5u4e00q6 1732 7 and and CC cord-014712-5u4e00q6 1732 8 weight weight NN cord-014712-5u4e00q6 1732 9 were be VBD cord-014712-5u4e00q6 1732 10 within within IN cord-014712-5u4e00q6 1732 11 normal normal JJ cord-014712-5u4e00q6 1732 12 percentiles percentile NNS cord-014712-5u4e00q6 1732 13 . . . cord-014712-5u4e00q6 1733 1 Physical physical JJ cord-014712-5u4e00q6 1733 2 examination examination NN cord-014712-5u4e00q6 1733 3 reevaled reevale VBD cord-014712-5u4e00q6 1733 4 normal normal JJ cord-014712-5u4e00q6 1733 5 examination examination NN cord-014712-5u4e00q6 1733 6 findings finding NNS cord-014712-5u4e00q6 1733 7 . . . cord-014712-5u4e00q6 1734 1 Laboratory laboratory NN cord-014712-5u4e00q6 1734 2 findings finding NNS cord-014712-5u4e00q6 1734 3 : : : cord-014712-5u4e00q6 1735 1 WBC WBC NNP cord-014712-5u4e00q6 1735 2 was be VBD cord-014712-5u4e00q6 1735 3 4.420 4.420 CD cord-014712-5u4e00q6 1735 4 / / SYM cord-014712-5u4e00q6 1735 5 mm mm NNP cord-014712-5u4e00q6 1735 6 3 3 CD cord-014712-5u4e00q6 1735 7 , , , cord-014712-5u4e00q6 1735 8 with with IN cord-014712-5u4e00q6 1735 9 21 21 CD cord-014712-5u4e00q6 1735 10 % % NN cord-014712-5u4e00q6 1735 11 neutrophils neutrophil NNS cord-014712-5u4e00q6 1735 12 , , , cord-014712-5u4e00q6 1735 13 6 6 CD cord-014712-5u4e00q6 1735 14 % % NN cord-014712-5u4e00q6 1735 15 eosinophils eosinophil NNS cord-014712-5u4e00q6 1735 16 and and CC cord-014712-5u4e00q6 1735 17 69 69 CD cord-014712-5u4e00q6 1735 18 % % NN cord-014712-5u4e00q6 1735 19 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 1735 20 . . . cord-014712-5u4e00q6 1736 1 His -PRON- PRP$ cord-014712-5u4e00q6 1736 2 hemoglobin hemoglobin NN cord-014712-5u4e00q6 1736 3 was be VBD cord-014712-5u4e00q6 1736 4 8.2 8.2 CD cord-014712-5u4e00q6 1736 5 g/ g/ JJ cord-014712-5u4e00q6 1736 6 dL dl NN cord-014712-5u4e00q6 1736 7 , , , cord-014712-5u4e00q6 1736 8 platelet platelet NN cord-014712-5u4e00q6 1736 9 count count NN cord-014712-5u4e00q6 1736 10 was be VBD cord-014712-5u4e00q6 1736 11 280.000 280.000 CD cord-014712-5u4e00q6 1736 12 / / SYM cord-014712-5u4e00q6 1736 13 mm mm NN cord-014712-5u4e00q6 1736 14 3 3 CD cord-014712-5u4e00q6 1736 15 . . . cord-014712-5u4e00q6 1737 1 Background background NN cord-014712-5u4e00q6 1737 2 : : : cord-014712-5u4e00q6 1738 1 Except except IN cord-014712-5u4e00q6 1738 2 for for IN cord-014712-5u4e00q6 1738 3 antibody antibody NN cord-014712-5u4e00q6 1738 4 deficiency deficiency NN cord-014712-5u4e00q6 1738 5 and and CC cord-014712-5u4e00q6 1738 6 complement complement VB cord-014712-5u4e00q6 1738 7 defects defect NNS cord-014712-5u4e00q6 1738 8 , , , cord-014712-5u4e00q6 1738 9 hematopoietic hematopoietic JJ cord-014712-5u4e00q6 1738 10 stem stem NN cord-014712-5u4e00q6 1738 11 cell cell NN cord-014712-5u4e00q6 1738 12 transplantation transplantation NN cord-014712-5u4e00q6 1738 13 ( ( -LRB- cord-014712-5u4e00q6 1738 14 HSCT HSCT NNP cord-014712-5u4e00q6 1738 15 ) ) -RRB- cord-014712-5u4e00q6 1738 16 is be VBZ cord-014712-5u4e00q6 1738 17 the the DT cord-014712-5u4e00q6 1738 18 single single JJ cord-014712-5u4e00q6 1738 19 best good JJS cord-014712-5u4e00q6 1738 20 curative curative JJ cord-014712-5u4e00q6 1738 21 treatment treatment NN cord-014712-5u4e00q6 1738 22 defined define VBN cord-014712-5u4e00q6 1738 23 for for IN cord-014712-5u4e00q6 1738 24 Primary primary JJ cord-014712-5u4e00q6 1738 25 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1738 26 ( ( -LRB- cord-014712-5u4e00q6 1738 27 PID PID NNP cord-014712-5u4e00q6 1738 28 ) ) -RRB- cord-014712-5u4e00q6 1738 29 so so RB cord-014712-5u4e00q6 1738 30 far far RB cord-014712-5u4e00q6 1738 31 . . . cord-014712-5u4e00q6 1739 1 In in IN cord-014712-5u4e00q6 1739 2 the the DT cord-014712-5u4e00q6 1739 3 current current JJ cord-014712-5u4e00q6 1739 4 study study NN cord-014712-5u4e00q6 1739 5 , , , cord-014712-5u4e00q6 1739 6 we -PRON- PRP cord-014712-5u4e00q6 1739 7 aimed aim VBD cord-014712-5u4e00q6 1739 8 to to TO cord-014712-5u4e00q6 1739 9 assess assess VB cord-014712-5u4e00q6 1739 10 the the DT cord-014712-5u4e00q6 1739 11 role role NN cord-014712-5u4e00q6 1739 12 of of IN cord-014712-5u4e00q6 1739 13 PID PID NNP cord-014712-5u4e00q6 1739 14 type type NN cord-014712-5u4e00q6 1739 15 , , , cord-014712-5u4e00q6 1739 16 donor donor NN cord-014712-5u4e00q6 1739 17 type type NN cord-014712-5u4e00q6 1739 18 and and CC cord-014712-5u4e00q6 1739 19 clinical clinical JJ cord-014712-5u4e00q6 1739 20 status status NN cord-014712-5u4e00q6 1739 21 on on IN cord-014712-5u4e00q6 1739 22 HSCT HSCT NNP cord-014712-5u4e00q6 1739 23 success success NN cord-014712-5u4e00q6 1739 24 rates rate NNS cord-014712-5u4e00q6 1739 25 . . . cord-014712-5u4e00q6 1740 1 Materials material NNS cord-014712-5u4e00q6 1740 2 and and CC cord-014712-5u4e00q6 1740 3 Methods method NNS cord-014712-5u4e00q6 1740 4 : : : cord-014712-5u4e00q6 1740 5 We -PRON- PRP cord-014712-5u4e00q6 1740 6 retrospectively retrospectively RB cord-014712-5u4e00q6 1740 7 reviewed review VBD cord-014712-5u4e00q6 1740 8 the the DT cord-014712-5u4e00q6 1740 9 records record NNS cord-014712-5u4e00q6 1740 10 of of IN cord-014712-5u4e00q6 1740 11 a a DT cord-014712-5u4e00q6 1740 12 total total NN cord-014712-5u4e00q6 1740 13 of of IN cord-014712-5u4e00q6 1740 14 91 91 CD cord-014712-5u4e00q6 1740 15 HSCTs HSCTs NNP cord-014712-5u4e00q6 1740 16 procedures procedure NNS cord-014712-5u4e00q6 1740 17 performed perform VBN cord-014712-5u4e00q6 1740 18 in in IN cord-014712-5u4e00q6 1740 19 68 68 CD cord-014712-5u4e00q6 1740 20 patients patient NNS cord-014712-5u4e00q6 1740 21 diagnosed diagnose VBN cord-014712-5u4e00q6 1740 22 with with IN cord-014712-5u4e00q6 1740 23 PID PID NNP cord-014712-5u4e00q6 1740 24 between between IN cord-014712-5u4e00q6 1740 25 1997 1997 CD cord-014712-5u4e00q6 1740 26 and and CC cord-014712-5u4e00q6 1740 27 2013 2013 CD cord-014712-5u4e00q6 1740 28 , , , cord-014712-5u4e00q6 1740 29 in in IN cord-014712-5u4e00q6 1740 30 Ankara Ankara NNP cord-014712-5u4e00q6 1740 31 University University NNP cord-014712-5u4e00q6 1740 32 Pediatric Pediatric NNP cord-014712-5u4e00q6 1740 33 Allergy Allergy NNP cord-014712-5u4e00q6 1740 34 and and CC cord-014712-5u4e00q6 1740 35 Immunology Immunology NNP cord-014712-5u4e00q6 1740 36 Department Department NNP cord-014712-5u4e00q6 1740 37 . . . cord-014712-5u4e00q6 1741 1 Results result NNS cord-014712-5u4e00q6 1741 2 : : : cord-014712-5u4e00q6 1742 1 Of of IN cord-014712-5u4e00q6 1742 2 the the DT cord-014712-5u4e00q6 1742 3 68 68 CD cord-014712-5u4e00q6 1742 4 patients patient NNS cord-014712-5u4e00q6 1742 5 , , , cord-014712-5u4e00q6 1742 6 40 40 CD cord-014712-5u4e00q6 1742 7 had have VBD cord-014712-5u4e00q6 1742 8 severe severe JJ cord-014712-5u4e00q6 1742 9 combined combine VBN cord-014712-5u4e00q6 1742 10 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1742 11 ( ( -LRB- cord-014712-5u4e00q6 1742 12 SCID SCID NNP cord-014712-5u4e00q6 1742 13 ) ) -RRB- cord-014712-5u4e00q6 1742 14 and and CC cord-014712-5u4e00q6 1742 15 28 28 CD cord-014712-5u4e00q6 1742 16 had have VBD cord-014712-5u4e00q6 1742 17 non non JJ cord-014712-5u4e00q6 1742 18 - - JJ cord-014712-5u4e00q6 1742 19 SCID scid JJ cord-014712-5u4e00q6 1742 20 . . . cord-014712-5u4e00q6 1743 1 The the DT cord-014712-5u4e00q6 1743 2 survival survival NN cord-014712-5u4e00q6 1743 3 rates rate NNS cord-014712-5u4e00q6 1743 4 following follow VBG cord-014712-5u4e00q6 1743 5 HSCT HSCT NNP cord-014712-5u4e00q6 1743 6 , , , cord-014712-5u4e00q6 1743 7 in in IN cord-014712-5u4e00q6 1743 8 both both DT cord-014712-5u4e00q6 1743 9 SCID SCID NNP cord-014712-5u4e00q6 1743 10 and and CC cord-014712-5u4e00q6 1743 11 non non JJ cord-014712-5u4e00q6 1743 12 - - JJ cord-014712-5u4e00q6 1743 13 SCID scid JJ cord-014712-5u4e00q6 1743 14 patients patient NNS cord-014712-5u4e00q6 1743 15 were be VBD cord-014712-5u4e00q6 1743 16 75 75 CD cord-014712-5u4e00q6 1743 17 % % NN cord-014712-5u4e00q6 1743 18 . . . cord-014712-5u4e00q6 1744 1 When when WRB cord-014712-5u4e00q6 1744 2 classified classify VBN cord-014712-5u4e00q6 1744 3 according accord VBG cord-014712-5u4e00q6 1744 4 to to IN cord-014712-5u4e00q6 1744 5 the the DT cord-014712-5u4e00q6 1744 6 source source NN cord-014712-5u4e00q6 1744 7 of of IN cord-014712-5u4e00q6 1744 8 donor donor NN cord-014712-5u4e00q6 1744 9 , , , cord-014712-5u4e00q6 1744 10 patients patient NNS cord-014712-5u4e00q6 1744 11 who who WP cord-014712-5u4e00q6 1744 12 had have VBD cord-014712-5u4e00q6 1744 13 a a DT cord-014712-5u4e00q6 1744 14 HLA HLA NNP cord-014712-5u4e00q6 1744 15 - - HYPH cord-014712-5u4e00q6 1744 16 matched match VBN cord-014712-5u4e00q6 1744 17 sibling sibling NN cord-014712-5u4e00q6 1744 18 donor donor NN cord-014712-5u4e00q6 1744 19 ( ( -LRB- cord-014712-5u4e00q6 1744 20 MSD MSD NNP cord-014712-5u4e00q6 1744 21 ) ) -RRB- cord-014712-5u4e00q6 1744 22 in in IN cord-014712-5u4e00q6 1744 23 the the DT cord-014712-5u4e00q6 1744 24 SCID SCID NNP cord-014712-5u4e00q6 1744 25 group group NN cord-014712-5u4e00q6 1744 26 had have VBD cord-014712-5u4e00q6 1744 27 90.9 90.9 CD cord-014712-5u4e00q6 1744 28 % % NN cord-014712-5u4e00q6 1744 29 survival survival NN cord-014712-5u4e00q6 1744 30 rate rate NN cord-014712-5u4e00q6 1744 31 post post NN cord-014712-5u4e00q6 1744 32 transplantation transplantation NN cord-014712-5u4e00q6 1744 33 , , , cord-014712-5u4e00q6 1744 34 those those DT cord-014712-5u4e00q6 1744 35 who who WP cord-014712-5u4e00q6 1744 36 had have VBD cord-014712-5u4e00q6 1744 37 a a DT cord-014712-5u4e00q6 1744 38 matched match VBN cord-014712-5u4e00q6 1744 39 related related JJ cord-014712-5u4e00q6 1744 40 donor donor NN cord-014712-5u4e00q6 1744 41 ( ( -LRB- cord-014712-5u4e00q6 1744 42 MRD MRD NNP cord-014712-5u4e00q6 1744 43 ) ) -RRB- cord-014712-5u4e00q6 1744 44 had have VBD cord-014712-5u4e00q6 1744 45 85.7 85.7 CD cord-014712-5u4e00q6 1744 46 % % NN cord-014712-5u4e00q6 1744 47 and and CC cord-014712-5u4e00q6 1744 48 those those DT cord-014712-5u4e00q6 1744 49 who who WP cord-014712-5u4e00q6 1744 50 received receive VBD cord-014712-5u4e00q6 1744 51 a a DT cord-014712-5u4e00q6 1744 52 haploidentical haploidentical JJ cord-014712-5u4e00q6 1744 53 donor donor NN cord-014712-5u4e00q6 1744 54 had have VBD cord-014712-5u4e00q6 1744 55 63.6 63.6 CD cord-014712-5u4e00q6 1744 56 % % NN cord-014712-5u4e00q6 1744 57 survival survival NN cord-014712-5u4e00q6 1744 58 rates rate NNS cord-014712-5u4e00q6 1744 59 . . . cord-014712-5u4e00q6 1745 1 In in IN cord-014712-5u4e00q6 1745 2 the the DT cord-014712-5u4e00q6 1745 3 non non JJ cord-014712-5u4e00q6 1745 4 - - JJ cord-014712-5u4e00q6 1745 5 SCID scid JJ cord-014712-5u4e00q6 1745 6 group group NN cord-014712-5u4e00q6 1745 7 there there EX cord-014712-5u4e00q6 1745 8 were be VBD cord-014712-5u4e00q6 1745 9 3 3 CD cord-014712-5u4e00q6 1745 10 patients patient NNS cord-014712-5u4e00q6 1745 11 with with IN cord-014712-5u4e00q6 1745 12 haploidentical haploidentical JJ cord-014712-5u4e00q6 1745 13 transplants transplant NNS cord-014712-5u4e00q6 1745 14 ( ( -LRB- cord-014712-5u4e00q6 1745 15 2 2 CD cord-014712-5u4e00q6 1745 16 Omenn Omenn NNP cord-014712-5u4e00q6 1745 17 syndrome syndrome NN cord-014712-5u4e00q6 1745 18 and and CC cord-014712-5u4e00q6 1745 19 1 1 CD cord-014712-5u4e00q6 1745 20 MHC MHC NNP cord-014712-5u4e00q6 1745 21 Class Class NNP cord-014712-5u4e00q6 1745 22 II II NNP cord-014712-5u4e00q6 1745 23 deficiency deficiency NN cord-014712-5u4e00q6 1745 24 ) ) -RRB- cord-014712-5u4e00q6 1745 25 and and CC cord-014712-5u4e00q6 1745 26 all all DT cord-014712-5u4e00q6 1745 27 patients patient NNS cord-014712-5u4e00q6 1745 28 died die VBD cord-014712-5u4e00q6 1745 29 . . . cord-014712-5u4e00q6 1746 1 We -PRON- PRP cord-014712-5u4e00q6 1746 2 assessed assess VBD cord-014712-5u4e00q6 1746 3 several several JJ cord-014712-5u4e00q6 1746 4 potential potential JJ cord-014712-5u4e00q6 1746 5 risk risk NN cord-014712-5u4e00q6 1746 6 factors factor NNS cord-014712-5u4e00q6 1746 7 associated associate VBN cord-014712-5u4e00q6 1746 8 with with IN cord-014712-5u4e00q6 1746 9 survival survival NN cord-014712-5u4e00q6 1746 10 in in IN cord-014712-5u4e00q6 1746 11 SCID SCID NNP cord-014712-5u4e00q6 1746 12 patients patient NNS cord-014712-5u4e00q6 1746 13 . . . cord-014712-5u4e00q6 1747 1 Patients patient NNS cord-014712-5u4e00q6 1747 2 diagnosed diagnose VBN cord-014712-5u4e00q6 1747 3 over over IN cord-014712-5u4e00q6 1747 4 6 6 CD cord-014712-5u4e00q6 1747 5 months month NNS cord-014712-5u4e00q6 1747 6 of of IN cord-014712-5u4e00q6 1747 7 age age NN cord-014712-5u4e00q6 1747 8 with with IN cord-014712-5u4e00q6 1747 9 a a DT cord-014712-5u4e00q6 1747 10 pre pre JJ cord-014712-5u4e00q6 1747 11 - - JJ cord-014712-5u4e00q6 1747 12 existing existing JJ cord-014712-5u4e00q6 1747 13 pulmonary pulmonary JJ cord-014712-5u4e00q6 1747 14 infection infection NN cord-014712-5u4e00q6 1747 15 , , , cord-014712-5u4e00q6 1747 16 requiring require VBG cord-014712-5u4e00q6 1747 17 intensive intensive JJ cord-014712-5u4e00q6 1747 18 care care NN cord-014712-5u4e00q6 1747 19 and/or and/or CC cord-014712-5u4e00q6 1747 20 mechanical mechanical JJ cord-014712-5u4e00q6 1747 21 ventilation ventilation NN cord-014712-5u4e00q6 1747 22 had have VBD cord-014712-5u4e00q6 1747 23 significantly significantly RB cord-014712-5u4e00q6 1747 24 lower low JJR cord-014712-5u4e00q6 1747 25 survival survival NN cord-014712-5u4e00q6 1747 26 rates rate NNS cord-014712-5u4e00q6 1747 27 . . . cord-014712-5u4e00q6 1748 1 Conclusion conclusion NN cord-014712-5u4e00q6 1748 2 : : : cord-014712-5u4e00q6 1748 3 HSCT HSCT NNP cord-014712-5u4e00q6 1748 4 is be VBZ cord-014712-5u4e00q6 1748 5 the the DT cord-014712-5u4e00q6 1748 6 best good JJS cord-014712-5u4e00q6 1748 7 curative curative JJ cord-014712-5u4e00q6 1748 8 treatment treatment NN cord-014712-5u4e00q6 1748 9 for for IN cord-014712-5u4e00q6 1748 10 PID PID NNP cord-014712-5u4e00q6 1748 11 . . . cord-014712-5u4e00q6 1749 1 Our -PRON- PRP$ cord-014712-5u4e00q6 1749 2 results result NNS cord-014712-5u4e00q6 1749 3 demonstrated demonstrate VBD cord-014712-5u4e00q6 1749 4 that that IN cord-014712-5u4e00q6 1749 5 HSCT HSCT NNP cord-014712-5u4e00q6 1749 6 performed perform VBD cord-014712-5u4e00q6 1749 7 from from IN cord-014712-5u4e00q6 1749 8 matched match VBN cord-014712-5u4e00q6 1749 9 family family NN cord-014712-5u4e00q6 1749 10 donors donor NNS cord-014712-5u4e00q6 1749 11 or or CC cord-014712-5u4e00q6 1749 12 even even RB cord-014712-5u4e00q6 1749 13 haploidentical haploidentical JJ cord-014712-5u4e00q6 1749 14 parents parent NNS cord-014712-5u4e00q6 1749 15 is be VBZ cord-014712-5u4e00q6 1749 16 a a DT cord-014712-5u4e00q6 1749 17 lifesaving lifesaving JJ cord-014712-5u4e00q6 1749 18 treatment treatment NN cord-014712-5u4e00q6 1749 19 in in IN cord-014712-5u4e00q6 1749 20 various various JJ cord-014712-5u4e00q6 1749 21 types type NNS cord-014712-5u4e00q6 1749 22 of of IN cord-014712-5u4e00q6 1749 23 PID PID NNP cord-014712-5u4e00q6 1749 24 's 's POS cord-014712-5u4e00q6 1749 25 , , , cord-014712-5u4e00q6 1749 26 especially especially RB cord-014712-5u4e00q6 1749 27 in in IN cord-014712-5u4e00q6 1749 28 SCID SCID NNP cord-014712-5u4e00q6 1749 29 . . . cord-014712-5u4e00q6 1750 1 Introduction introduction NN cord-014712-5u4e00q6 1750 2 : : : cord-014712-5u4e00q6 1751 1 In in IN cord-014712-5u4e00q6 1751 2 case case NN cord-014712-5u4e00q6 1751 3 of of IN cord-014712-5u4e00q6 1751 4 donor donor NN cord-014712-5u4e00q6 1751 5 availability availability NN cord-014712-5u4e00q6 1751 6 allogeneic allogeneic IN cord-014712-5u4e00q6 1751 7 hematopoietic hematopoietic JJ cord-014712-5u4e00q6 1751 8 stem stem NN cord-014712-5u4e00q6 1751 9 cell cell NN cord-014712-5u4e00q6 1751 10 transplantation transplantation NN cord-014712-5u4e00q6 1751 11 ( ( -LRB- cord-014712-5u4e00q6 1751 12 HSCT HSCT NNP cord-014712-5u4e00q6 1751 13 ) ) -RRB- cord-014712-5u4e00q6 1751 14 can can MD cord-014712-5u4e00q6 1751 15 be be VB cord-014712-5u4e00q6 1751 16 regarded regard VBN cord-014712-5u4e00q6 1751 17 as as IN cord-014712-5u4e00q6 1751 18 a a DT cord-014712-5u4e00q6 1751 19 definitive definitive JJ cord-014712-5u4e00q6 1751 20 therapy therapy NN cord-014712-5u4e00q6 1751 21 for for IN cord-014712-5u4e00q6 1751 22 a a DT cord-014712-5u4e00q6 1751 23 variety variety NN cord-014712-5u4e00q6 1751 24 of of IN cord-014712-5u4e00q6 1751 25 primary primary JJ cord-014712-5u4e00q6 1751 26 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1751 27 syndromes syndrome NNS cord-014712-5u4e00q6 1751 28 ( ( -LRB- cord-014712-5u4e00q6 1751 29 PIDs PIDs NNP cord-014712-5u4e00q6 1751 30 ) ) -RRB- cord-014712-5u4e00q6 1751 31 , , , cord-014712-5u4e00q6 1751 32 including include VBG cord-014712-5u4e00q6 1751 33 severe severe JJ cord-014712-5u4e00q6 1751 34 combined combine VBN cord-014712-5u4e00q6 1751 35 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1751 36 ( ( -LRB- cord-014712-5u4e00q6 1751 37 SCID SCID NNP cord-014712-5u4e00q6 1751 38 ) ) -RRB- cord-014712-5u4e00q6 1751 39 and and CC cord-014712-5u4e00q6 1751 40 non non JJ cord-014712-5u4e00q6 1751 41 - - JJ cord-014712-5u4e00q6 1751 42 SCID scid JJ cord-014712-5u4e00q6 1751 43 PIDs pid NNS cord-014712-5u4e00q6 1751 44 . . . cord-014712-5u4e00q6 1752 1 Study Study NNP cord-014712-5u4e00q6 1752 2 Period Period NNP cord-014712-5u4e00q6 1752 3 : : : cord-014712-5u4e00q6 1752 4 We -PRON- PRP cord-014712-5u4e00q6 1752 5 retrospectively retrospectively RB cord-014712-5u4e00q6 1752 6 reviewed review VBD cord-014712-5u4e00q6 1752 7 the the DT cord-014712-5u4e00q6 1752 8 hospital hospital NN cord-014712-5u4e00q6 1752 9 records record NNS cord-014712-5u4e00q6 1752 10 of of IN cord-014712-5u4e00q6 1752 11 32 32 CD cord-014712-5u4e00q6 1752 12 consecutive consecutive JJ cord-014712-5u4e00q6 1752 13 children child NNS cord-014712-5u4e00q6 1752 14 with with IN cord-014712-5u4e00q6 1752 15 PID PID NNP cord-014712-5u4e00q6 1752 16 , , , cord-014712-5u4e00q6 1752 17 who who WP cord-014712-5u4e00q6 1752 18 had have VBD cord-014712-5u4e00q6 1752 19 41 41 CD cord-014712-5u4e00q6 1752 20 allogeneic allogeneic NN cord-014712-5u4e00q6 1752 21 HSCT HSCT NNP cord-014712-5u4e00q6 1752 22 in in IN cord-014712-5u4e00q6 1752 23 the the DT cord-014712-5u4e00q6 1752 24 last last JJ cord-014712-5u4e00q6 1752 25 22 22 CD cord-014712-5u4e00q6 1752 26 years year NNS cord-014712-5u4e00q6 1752 27 , , , cord-014712-5u4e00q6 1752 28 between between IN cord-014712-5u4e00q6 1752 29 January January NNP cord-014712-5u4e00q6 1752 30 1991 1991 CD cord-014712-5u4e00q6 1752 31 and and CC cord-014712-5u4e00q6 1752 32 January January NNP cord-014712-5u4e00q6 1752 33 2014 2014 CD cord-014712-5u4e00q6 1752 34 . . . cord-014712-5u4e00q6 1753 1 Our -PRON- PRP$ cord-014712-5u4e00q6 1753 2 median median JJ cord-014712-5u4e00q6 1753 3 follow follow NN cord-014712-5u4e00q6 1753 4 - - HYPH cord-014712-5u4e00q6 1753 5 up up NN cord-014712-5u4e00q6 1753 6 time time NN cord-014712-5u4e00q6 1753 7 is be VBZ cord-014712-5u4e00q6 1753 8 2,1 2,1 CD cord-014712-5u4e00q6 1753 9 years year NNS cord-014712-5u4e00q6 1753 10 ( ( -LRB- cord-014712-5u4e00q6 1753 11 2 2 CD cord-014712-5u4e00q6 1753 12 months month NNS cord-014712-5u4e00q6 1753 13 -22,1 -22,1 CD cord-014712-5u4e00q6 1753 14 years year NNS cord-014712-5u4e00q6 1753 15 ) ) -RRB- cord-014712-5u4e00q6 1754 1 Patients patient NNS cord-014712-5u4e00q6 1754 2 and and CC cord-014712-5u4e00q6 1754 3 Methods method NNS cord-014712-5u4e00q6 1754 4 : : : cord-014712-5u4e00q6 1754 5 The the DT cord-014712-5u4e00q6 1754 6 median median JJ cord-014712-5u4e00q6 1754 7 age age NN cord-014712-5u4e00q6 1754 8 of of IN cord-014712-5u4e00q6 1754 9 children child NNS cord-014712-5u4e00q6 1754 10 at at IN cord-014712-5u4e00q6 1754 11 HSCT HSCT NNP cord-014712-5u4e00q6 1754 12 was be VBD cord-014712-5u4e00q6 1754 13 10,5 10,5 CD cord-014712-5u4e00q6 1754 14 months month NNS cord-014712-5u4e00q6 1754 15 ( ( -LRB- cord-014712-5u4e00q6 1754 16 3,5 3,5 CD cord-014712-5u4e00q6 1754 17 months-18 months-18 CD cord-014712-5u4e00q6 1754 18 years year NNS cord-014712-5u4e00q6 1754 19 ) ) -RRB- cord-014712-5u4e00q6 1754 20 . . . cord-014712-5u4e00q6 1755 1 23 23 CD cord-014712-5u4e00q6 1756 1 boys/9 boys/9 NNP cord-014712-5u4e00q6 1756 2 girls girl NNS cord-014712-5u4e00q6 1756 3 Diagnoses Diagnoses NNPS cord-014712-5u4e00q6 1756 4 were be VBD cord-014712-5u4e00q6 1756 5 based base VBN cord-014712-5u4e00q6 1756 6 on on IN cord-014712-5u4e00q6 1756 7 anamnestic anamnestic JJ cord-014712-5u4e00q6 1756 8 data datum NNS cord-014712-5u4e00q6 1756 9 , , , cord-014712-5u4e00q6 1756 10 clinical clinical JJ cord-014712-5u4e00q6 1756 11 findings finding NNS cord-014712-5u4e00q6 1756 12 , , , cord-014712-5u4e00q6 1756 13 and and CC cord-014712-5u4e00q6 1756 14 immunological immunological JJ cord-014712-5u4e00q6 1756 15 and and CC cord-014712-5u4e00q6 1756 16 genetic genetic JJ cord-014712-5u4e00q6 1756 17 analysis analysis NN cord-014712-5u4e00q6 1756 18 . . . cord-014712-5u4e00q6 1757 1 Conditioning conditioning NN cord-014712-5u4e00q6 1757 2 regimens regimen NNS cord-014712-5u4e00q6 1757 3 included include VBD cord-014712-5u4e00q6 1757 4 busulphan busulphan NNP cord-014712-5u4e00q6 1757 5 + + CC cord-014712-5u4e00q6 1757 6 cyclophosphamide cyclophosphamide RB cord-014712-5u4e00q6 1757 7 , , , cord-014712-5u4e00q6 1757 8 busulphan busulphan NNP cord-014712-5u4e00q6 1757 9 + + CC cord-014712-5u4e00q6 1757 10 cyclophosphamide cyclophosphamide RB cord-014712-5u4e00q6 1758 1 + + CC cord-014712-5u4e00q6 1758 2 ATG ATG NNP cord-014712-5u4e00q6 1758 3 , , , cord-014712-5u4e00q6 1758 4 fludarabine fludarabine NN cord-014712-5u4e00q6 1758 5 + + CC cord-014712-5u4e00q6 1758 6 melphalan melphalan NN cord-014712-5u4e00q6 1758 7 or or CC cord-014712-5u4e00q6 1758 8 fludarabine fludarabine NN cord-014712-5u4e00q6 1758 9 + + CC cord-014712-5u4e00q6 1758 10 anti anti JJ cord-014712-5u4e00q6 1758 11 - - JJ cord-014712-5u4e00q6 1758 12 CD52 CD52 NNP cord-014712-5u4e00q6 1759 1 In in IN cord-014712-5u4e00q6 1759 2 B- B- NNP cord-014712-5u4e00q6 1759 3 , , , cord-014712-5u4e00q6 1759 4 T- T- NNP cord-014712-5u4e00q6 1759 5 , , , cord-014712-5u4e00q6 1759 6 NK NK NNP cord-014712-5u4e00q6 1759 7 - - HYPH cord-014712-5u4e00q6 1759 8 SCID SCID NNP cord-014712-5u4e00q6 1759 9 cases case NNS cord-014712-5u4e00q6 1759 10 conditioning conditioning NN cord-014712-5u4e00q6 1759 11 was be VBD cord-014712-5u4e00q6 1759 12 not not RB cord-014712-5u4e00q6 1759 13 used use VBN cord-014712-5u4e00q6 1759 14 . . . cord-014712-5u4e00q6 1760 1 Indications indication NNS cord-014712-5u4e00q6 1760 2 for for IN cord-014712-5u4e00q6 1760 3 transplantation transplantation NN cord-014712-5u4e00q6 1760 4 : : : cord-014712-5u4e00q6 1760 5 Patients patient NNS cord-014712-5u4e00q6 1760 6 ' ' POS cord-014712-5u4e00q6 1760 7 diagnoses diagnosis NNS cord-014712-5u4e00q6 1760 8 were be VBD cord-014712-5u4e00q6 1760 9 severe severe JJ cord-014712-5u4e00q6 1760 10 combined combine VBN cord-014712-5u4e00q6 1760 11 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1761 1 ( ( -LRB- cord-014712-5u4e00q6 1761 2 N n NN cord-014712-5u4e00q6 1761 3 = = SYM cord-014712-5u4e00q6 1761 4 16 16 CD cord-014712-5u4e00q6 1761 5 ) ) -RRB- cord-014712-5u4e00q6 1761 6 , , , cord-014712-5u4e00q6 1761 7 Wiskott Wiskott NNP cord-014712-5u4e00q6 1761 8 - - HYPH cord-014712-5u4e00q6 1761 9 Aldrich Aldrich NNP cord-014712-5u4e00q6 1761 10 syndrome syndrome NN cord-014712-5u4e00q6 1761 11 ( ( -LRB- cord-014712-5u4e00q6 1761 12 WAS be VBD cord-014712-5u4e00q6 1761 13 , , , cord-014712-5u4e00q6 1761 14 N n NN cord-014712-5u4e00q6 1761 15 = = SYM cord-014712-5u4e00q6 1761 16 6 6 CD cord-014712-5u4e00q6 1761 17 ) ) -RRB- cord-014712-5u4e00q6 1761 18 , , , cord-014712-5u4e00q6 1761 19 chronic chronic JJ cord-014712-5u4e00q6 1761 20 granulomatous granulomatous JJ cord-014712-5u4e00q6 1761 21 disease disease NN cord-014712-5u4e00q6 1761 22 ( ( -LRB- cord-014712-5u4e00q6 1761 23 CGD CGD NNP cord-014712-5u4e00q6 1761 24 , , , cord-014712-5u4e00q6 1761 25 N N NNP cord-014712-5u4e00q6 1761 26 = = SYM cord-014712-5u4e00q6 1761 27 3 3 CD cord-014712-5u4e00q6 1761 28 ) ) -RRB- cord-014712-5u4e00q6 1761 29 , , , cord-014712-5u4e00q6 1761 30 Xlinked Xlinked NNP cord-014712-5u4e00q6 1761 31 lymphoproliferative lymphoproliferative JJ cord-014712-5u4e00q6 1761 32 disease disease NN cord-014712-5u4e00q6 1761 33 ( ( -LRB- cord-014712-5u4e00q6 1761 34 XLP XLP NNP cord-014712-5u4e00q6 1761 35 , , , cord-014712-5u4e00q6 1761 36 N n NN cord-014712-5u4e00q6 1761 37 = = SYM cord-014712-5u4e00q6 1761 38 3 3 CD cord-014712-5u4e00q6 1761 39 ) ) -RRB- cord-014712-5u4e00q6 1761 40 , , , cord-014712-5u4e00q6 1761 41 Whim Whim NNP cord-014712-5u4e00q6 1761 42 - - HYPH cord-014712-5u4e00q6 1761 43 syndrome syndrome NN cord-014712-5u4e00q6 1762 1 ( ( -LRB- cord-014712-5u4e00q6 1762 2 N n NN cord-014712-5u4e00q6 1762 3 = = SYM cord-014712-5u4e00q6 1762 4 1 1 CD cord-014712-5u4e00q6 1762 5 ) ) -RRB- cord-014712-5u4e00q6 1762 6 , , , cord-014712-5u4e00q6 1762 7 hyper hyper NNP cord-014712-5u4e00q6 1762 8 IgM IgM NNP cord-014712-5u4e00q6 1762 9 syndrome syndrome NN cord-014712-5u4e00q6 1762 10 ( ( -LRB- cord-014712-5u4e00q6 1762 11 CD40 CD40 NNP cord-014712-5u4e00q6 1762 12 ligand ligand NN cord-014712-5u4e00q6 1762 13 deficiency deficiency NN cord-014712-5u4e00q6 1762 14 , , , cord-014712-5u4e00q6 1762 15 N n NN cord-014712-5u4e00q6 1762 16 = = SYM cord-014712-5u4e00q6 1762 17 1 1 CD cord-014712-5u4e00q6 1762 18 ) ) -RRB- cord-014712-5u4e00q6 1762 19 , , , cord-014712-5u4e00q6 1762 20 leukocyte leukocyte NN cord-014712-5u4e00q6 1762 21 adhesion adhesion NN cord-014712-5u4e00q6 1762 22 deficiency deficiency NN cord-014712-5u4e00q6 1762 23 ( ( -LRB- cord-014712-5u4e00q6 1762 24 LAD lad NN cord-014712-5u4e00q6 1762 25 , , , cord-014712-5u4e00q6 1762 26 N n NN cord-014712-5u4e00q6 1762 27 = = SYM cord-014712-5u4e00q6 1762 28 1 1 CD cord-014712-5u4e00q6 1762 29 ) ) -RRB- cord-014712-5u4e00q6 1762 30 , , , cord-014712-5u4e00q6 1762 31 DOCK8 DOCK8 NNP cord-014712-5u4e00q6 1762 32 mutation mutation NN cord-014712-5u4e00q6 1762 33 ( ( -LRB- cord-014712-5u4e00q6 1762 34 N n NN cord-014712-5u4e00q6 1762 35 = = SYM cord-014712-5u4e00q6 1762 36 1 1 CD cord-014712-5u4e00q6 1762 37 ) ) -RRB- cord-014712-5u4e00q6 1762 38 Transplantations Transplantations NNP cord-014712-5u4e00q6 1762 39 : : : cord-014712-5u4e00q6 1763 1 41 41 CD cord-014712-5u4e00q6 1763 2 HSCTs hsct NNS cord-014712-5u4e00q6 1763 3 for for IN cord-014712-5u4e00q6 1763 4 32 32 CD cord-014712-5u4e00q6 1763 5 children child NNS cord-014712-5u4e00q6 1763 6 were be VBD cord-014712-5u4e00q6 1763 7 performed perform VBN cord-014712-5u4e00q6 1763 8 . . . cord-014712-5u4e00q6 1764 1 6 6 CD cord-014712-5u4e00q6 1764 2 patients patient NNS cord-014712-5u4e00q6 1764 3 were be VBD cord-014712-5u4e00q6 1764 4 retransplanted retransplanted JJ cord-014712-5u4e00q6 1764 5 ( ( -LRB- cord-014712-5u4e00q6 1764 6 4 4 CD cord-014712-5u4e00q6 1764 7 pt pt NN cord-014712-5u4e00q6 1764 8 once once RB cord-014712-5u4e00q6 1764 9 , , , cord-014712-5u4e00q6 1764 10 1 1 CD cord-014712-5u4e00q6 1764 11 pt pt NN cord-014712-5u4e00q6 1764 12 twice twice RB cord-014712-5u4e00q6 1764 13 , , , cord-014712-5u4e00q6 1764 14 1 1 CD cord-014712-5u4e00q6 1764 15 pt pt NN cord-014712-5u4e00q6 1764 16 3 3 CD cord-014712-5u4e00q6 1764 17 times time NNS cord-014712-5u4e00q6 1764 18 ) ) -RRB- cord-014712-5u4e00q6 1764 19 , , , cord-014712-5u4e00q6 1764 20 because because IN cord-014712-5u4e00q6 1764 21 of of IN cord-014712-5u4e00q6 1764 22 rejections rejection NNS cord-014712-5u4e00q6 1764 23 . . . cord-014712-5u4e00q6 1765 1 At at IN cord-014712-5u4e00q6 1765 2 the the DT cord-014712-5u4e00q6 1765 3 first first JJ cord-014712-5u4e00q6 1765 4 HSCTs hsct NNS cord-014712-5u4e00q6 1765 5 in in IN cord-014712-5u4e00q6 1765 6 5/32 5/32 CD cord-014712-5u4e00q6 1765 7 cases case NNS cord-014712-5u4e00q6 1765 8 sibling sibling NN cord-014712-5u4e00q6 1765 9 bone bone NN cord-014712-5u4e00q6 1765 10 marrow marrow NN cord-014712-5u4e00q6 1765 11 , , , cord-014712-5u4e00q6 1765 12 1/32 1/32 CD cord-014712-5u4e00q6 1765 13 sibling sibling NN cord-014712-5u4e00q6 1765 14 peripheral peripheral JJ cord-014712-5u4e00q6 1765 15 blood blood NN cord-014712-5u4e00q6 1765 16 , , , cord-014712-5u4e00q6 1765 17 1/32 1/32 CD cord-014712-5u4e00q6 1765 18 sibling sibling NN cord-014712-5u4e00q6 1765 19 cord cord NN cord-014712-5u4e00q6 1765 20 blood blood NN cord-014712-5u4e00q6 1765 21 , , , cord-014712-5u4e00q6 1765 22 4/32 4/32 CD cord-014712-5u4e00q6 1765 23 unrelated unrelated JJ cord-014712-5u4e00q6 1765 24 cord cord NN cord-014712-5u4e00q6 1765 25 blood blood NN cord-014712-5u4e00q6 1765 26 , , , cord-014712-5u4e00q6 1765 27 9/32 9/32 CD cord-014712-5u4e00q6 1765 28 unrelated unrelated JJ cord-014712-5u4e00q6 1765 29 bone bone NN cord-014712-5u4e00q6 1765 30 marrow marrow NN cord-014712-5u4e00q6 1765 31 , , , cord-014712-5u4e00q6 1765 32 2/32 2/32 CD cord-014712-5u4e00q6 1765 33 unrelated unrelated JJ cord-014712-5u4e00q6 1765 34 peripheral peripheral JJ cord-014712-5u4e00q6 1765 35 blood blood NN cord-014712-5u4e00q6 1765 36 , , , cord-014712-5u4e00q6 1765 37 7/32 7/32 CD cord-014712-5u4e00q6 1765 38 haploidentical haploidentical JJ cord-014712-5u4e00q6 1765 39 donors donor NNS cord-014712-5u4e00q6 1765 40 were be VBD cord-014712-5u4e00q6 1765 41 used use VBN cord-014712-5u4e00q6 1765 42 Median Median NNP cord-014712-5u4e00q6 1765 43 CD34 CD34 NNP cord-014712-5u4e00q6 1765 44 count count NN cord-014712-5u4e00q6 1765 45 was be VBD cord-014712-5u4e00q6 1765 46 2,52x10 2,52x10 CD cord-014712-5u4e00q6 1765 47 6 6 CD cord-014712-5u4e00q6 1766 1 /kg /kg NFP cord-014712-5u4e00q6 1766 2 ( ( -LRB- cord-014712-5u4e00q6 1766 3 0,13x10 0,13x10 CD cord-014712-5u4e00q6 1766 4 6 6 CD cord-014712-5u4e00q6 1766 5 -26,95x10 -26,95x10 CD cord-014712-5u4e00q6 1766 6 6 6 CD cord-014712-5u4e00q6 1767 1 /kg /kg NFP cord-014712-5u4e00q6 1767 2 ) ) -RRB- cord-014712-5u4e00q6 1768 1 Patients patient NNS cord-014712-5u4e00q6 1768 2 engrafted engraft VBN cord-014712-5u4e00q6 1768 3 on on IN cord-014712-5u4e00q6 1768 4 median median NN cord-014712-5u4e00q6 1768 5 27 27 CD cord-014712-5u4e00q6 1768 6 ± ± CD cord-014712-5u4e00q6 1768 7 8 8 CD cord-014712-5u4e00q6 1768 8 day day NN cord-014712-5u4e00q6 1768 9 ( ( -LRB- cord-014712-5u4e00q6 1768 10 ANC ANC NNP cord-014712-5u4e00q6 1768 11 > > XX cord-014712-5u4e00q6 1769 1 0,5 0,5 NFP cord-014712-5u4e00q6 1770 1 G G NNP cord-014712-5u4e00q6 1770 2 / / SYM cord-014712-5u4e00q6 1770 3 l l NN cord-014712-5u4e00q6 1770 4 ) ) -RRB- cord-014712-5u4e00q6 1770 5 Acute acute JJ cord-014712-5u4e00q6 1770 6 GVHD GVHD NNP cord-014712-5u4e00q6 1770 7 occured occur VBD cord-014712-5u4e00q6 1770 8 in in IN cord-014712-5u4e00q6 1770 9 17/32 17/32 CD cord-014712-5u4e00q6 1770 10 cases case NNS cord-014712-5u4e00q6 1770 11 ( ( -LRB- cord-014712-5u4e00q6 1771 1 Pathomorphological Pathomorphological NNP cord-014712-5u4e00q6 1771 2 findes finde NNS cord-014712-5u4e00q6 1771 3 : : : cord-014712-5u4e00q6 1771 4 distortion distortion NN cord-014712-5u4e00q6 1771 5 of of IN cord-014712-5u4e00q6 1771 6 the the DT cord-014712-5u4e00q6 1771 7 structure structure NN cord-014712-5u4e00q6 1771 8 of of IN cord-014712-5u4e00q6 1771 9 lymph lymph NN cord-014712-5u4e00q6 1771 10 nodes node NNS cord-014712-5u4e00q6 1771 11 due due JJ cord-014712-5u4e00q6 1771 12 to to IN cord-014712-5u4e00q6 1771 13 enlargement enlargement NN cord-014712-5u4e00q6 1771 14 of of IN cord-014712-5u4e00q6 1771 15 paracortical paracortical JJ cord-014712-5u4e00q6 1771 16 zones zone NNS cord-014712-5u4e00q6 1771 17 and and CC cord-014712-5u4e00q6 1771 18 follicules follicule NNS cord-014712-5u4e00q6 1771 19 was be VBD cord-014712-5u4e00q6 1771 20 found find VBN cord-014712-5u4e00q6 1771 21 in in IN cord-014712-5u4e00q6 1771 22 all all DT cord-014712-5u4e00q6 1771 23 patients patient NNS cord-014712-5u4e00q6 1771 24 . . . cord-014712-5u4e00q6 1772 1 Presumed presume VBN cord-014712-5u4e00q6 1772 2 atypical atypical JJ cord-014712-5u4e00q6 1772 3 cells cell NNS cord-014712-5u4e00q6 1772 4 ( ( -LRB- cord-014712-5u4e00q6 1772 5 makrolymphoblastes makrolymphoblaste NNS cord-014712-5u4e00q6 1772 6 and and CC cord-014712-5u4e00q6 1772 7 Berezovsky Berezovsky NNP cord-014712-5u4e00q6 1772 8 - - HYPH cord-014712-5u4e00q6 1772 9 Sternberg Sternberg NNP cord-014712-5u4e00q6 1772 10 - - HYPH cord-014712-5u4e00q6 1772 11 Reed Reed NNP cord-014712-5u4e00q6 1772 12 cells cell NNS cord-014712-5u4e00q6 1772 13 ) ) -RRB- cord-014712-5u4e00q6 1772 14 , , , cord-014712-5u4e00q6 1772 15 were be VBD cord-014712-5u4e00q6 1772 16 detected detect VBN cord-014712-5u4e00q6 1772 17 in in IN cord-014712-5u4e00q6 1772 18 2 2 CD cord-014712-5u4e00q6 1772 19 patients patient NNS cord-014712-5u4e00q6 1772 20 overwise overwise VBP cord-014712-5u4e00q6 1772 21 during during IN cord-014712-5u4e00q6 1772 22 follow follow NN cord-014712-5u4e00q6 1772 23 - - HYPH cord-014712-5u4e00q6 1772 24 up up NN cord-014712-5u4e00q6 1772 25 for for IN cord-014712-5u4e00q6 1772 26 2 2 CD cord-014712-5u4e00q6 1772 27 - - SYM cord-014712-5u4e00q6 1772 28 5 5 CD cord-014712-5u4e00q6 1772 29 years year NNS cord-014712-5u4e00q6 1772 30 in in IN cord-014712-5u4e00q6 1772 31 these these DT cord-014712-5u4e00q6 1772 32 patients patient NNS cord-014712-5u4e00q6 1772 33 revealed reveal VBD cord-014712-5u4e00q6 1772 34 no no DT cord-014712-5u4e00q6 1772 35 specific specific JJ cord-014712-5u4e00q6 1772 36 infectious infectious JJ cord-014712-5u4e00q6 1772 37 and and CC cord-014712-5u4e00q6 1772 38 malignansy malignansy NN cord-014712-5u4e00q6 1772 39 . . . cord-014712-5u4e00q6 1773 1 Accumulation accumulation NN cord-014712-5u4e00q6 1773 2 of of IN cord-014712-5u4e00q6 1773 3 proliferating proliferate VBG cord-014712-5u4e00q6 1773 4 DN DN NNP cord-014712-5u4e00q6 1773 5 cells cell NNS cord-014712-5u4e00q6 1773 6 ( ( -LRB- cord-014712-5u4e00q6 1773 7 a a DT cord-014712-5u4e00q6 1773 8 lot lot NN cord-014712-5u4e00q6 1773 9 of of IN cord-014712-5u4e00q6 1773 10 mitoses mitose NNS cord-014712-5u4e00q6 1773 11 ) ) -RRB- cord-014712-5u4e00q6 1773 12 was be VBD cord-014712-5u4e00q6 1773 13 characteristic characteristic JJ cord-014712-5u4e00q6 1773 14 fiture fiture NN cord-014712-5u4e00q6 1773 15 in in IN cord-014712-5u4e00q6 1773 16 lymph lymph NN cord-014712-5u4e00q6 1773 17 nodes node NNS cord-014712-5u4e00q6 1773 18 and and CC cord-014712-5u4e00q6 1773 19 spleen spleen NNS cord-014712-5u4e00q6 1773 20 of of IN cord-014712-5u4e00q6 1773 21 ALPS ALPS NNP cord-014712-5u4e00q6 1773 22 patients patient NNS cord-014712-5u4e00q6 1773 23 . . . cord-014712-5u4e00q6 1774 1 Setting set VBG cord-014712-5u4e00q6 1774 2 of of IN cord-014712-5u4e00q6 1774 3 plasma plasma NN cord-014712-5u4e00q6 1774 4 cells cell NNS cord-014712-5u4e00q6 1774 5 in in IN cord-014712-5u4e00q6 1774 6 follicular follicular JJ cord-014712-5u4e00q6 1774 7 zones zone NNS cord-014712-5u4e00q6 1774 8 in in IN cord-014712-5u4e00q6 1774 9 the the DT cord-014712-5u4e00q6 1774 10 lymph lymph NN cord-014712-5u4e00q6 1774 11 nodes node NNS cord-014712-5u4e00q6 1774 12 was be VBD cord-014712-5u4e00q6 1774 13 reveald reveald NN cord-014712-5u4e00q6 1774 14 in in IN cord-014712-5u4e00q6 1774 15 5 5 CD cord-014712-5u4e00q6 1774 16 cases case NNS cord-014712-5u4e00q6 1774 17 , , , cord-014712-5u4e00q6 1774 18 and and CC cord-014712-5u4e00q6 1774 19 eosinophilesin eosinophilesin NNP cord-014712-5u4e00q6 1774 20 2 2 CD cord-014712-5u4e00q6 1774 21 , , , cord-014712-5u4e00q6 1774 22 pronounced pronounce VBN cord-014712-5u4e00q6 1774 23 immunoblast immunoblast JJ cord-014712-5u4e00q6 1774 24 proliferation proliferation NN cord-014712-5u4e00q6 1774 25 in in IN cord-014712-5u4e00q6 1774 26 2 2 CD cord-014712-5u4e00q6 1774 27 , , , cord-014712-5u4e00q6 1774 28 sinus sinus NNP cord-014712-5u4e00q6 1774 29 histiocytosisin histiocytosisin NNP cord-014712-5u4e00q6 1774 30 3 3 CD cord-014712-5u4e00q6 1774 31 . . . cord-014712-5u4e00q6 1775 1 Multiple multiple JJ cord-014712-5u4e00q6 1775 2 hyperplastic hyperplastic JJ cord-014712-5u4e00q6 1775 3 follicles follicle NNS cord-014712-5u4e00q6 1775 4 , , , cord-014712-5u4e00q6 1775 5 extended extended JJ cord-014712-5u4e00q6 1775 6 sinuses sinus NNS cord-014712-5u4e00q6 1775 7 with with IN cord-014712-5u4e00q6 1775 8 many many JJ cord-014712-5u4e00q6 1775 9 phagocytizing phagocytizing NN cord-014712-5u4e00q6 1775 10 macrophages macrophage NNS cord-014712-5u4e00q6 1775 11 , , , cord-014712-5u4e00q6 1775 12 lymphocytic lymphocytic JJ cord-014712-5u4e00q6 1775 13 infiltration infiltration NN cord-014712-5u4e00q6 1775 14 was be VBD cord-014712-5u4e00q6 1775 15 revealed reveal VBN cord-014712-5u4e00q6 1775 16 by by IN cord-014712-5u4e00q6 1775 17 histological histological JJ cord-014712-5u4e00q6 1775 18 examination examination NN cord-014712-5u4e00q6 1775 19 of of IN cord-014712-5u4e00q6 1775 20 the the DT cord-014712-5u4e00q6 1775 21 spleen spleen NNS cord-014712-5u4e00q6 1775 22 in in IN cord-014712-5u4e00q6 1775 23 all all DT cord-014712-5u4e00q6 1775 24 cases case NNS cord-014712-5u4e00q6 1775 25 . . . cord-014712-5u4e00q6 1776 1 Immunohistochemistry Immunohistochemistry NNP cord-014712-5u4e00q6 1776 2 findes findes NNP cord-014712-5u4e00q6 1776 3 : : : cord-014712-5u4e00q6 1776 4 T T NNP cord-014712-5u4e00q6 1776 5 - - HYPH cord-014712-5u4e00q6 1776 6 and and CC cord-014712-5u4e00q6 1776 7 B b NN cord-014712-5u4e00q6 1776 8 - - HYPH cord-014712-5u4e00q6 1776 9 cells cell NNS cord-014712-5u4e00q6 1776 10 proliferation proliferation NN cord-014712-5u4e00q6 1776 11 ( ( -LRB- cord-014712-5u4e00q6 1776 12 Ki-67 ki-67 CD cord-014712-5u4e00q6 1776 13 expression expression NN cord-014712-5u4e00q6 1776 14 ) ) -RRB- cord-014712-5u4e00q6 1776 15 , , , cord-014712-5u4e00q6 1776 16 atypical atypical JJ cord-014712-5u4e00q6 1776 17 location location NN cord-014712-5u4e00q6 1776 18 of of IN cord-014712-5u4e00q6 1776 19 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1776 20 populations population NNS cord-014712-5u4e00q6 1776 21 , , , cord-014712-5u4e00q6 1776 22 settings setting NNS cord-014712-5u4e00q6 1776 23 of of IN cord-014712-5u4e00q6 1776 24 plasma plasma NN cord-014712-5u4e00q6 1776 25 cells cell NNS cord-014712-5u4e00q6 1776 26 in in IN cord-014712-5u4e00q6 1776 27 all all DT cord-014712-5u4e00q6 1776 28 lymph lymph NN cord-014712-5u4e00q6 1776 29 node node NN cord-014712-5u4e00q6 1776 30 zones zone NNS cord-014712-5u4e00q6 1776 31 . . . cord-014712-5u4e00q6 1777 1 In in IN cord-014712-5u4e00q6 1777 2 paracortical paracortical JJ cord-014712-5u4e00q6 1777 3 zones zone NNS cord-014712-5u4e00q6 1777 4 was be VBD cord-014712-5u4e00q6 1777 5 found find VBN cord-014712-5u4e00q6 1777 6 CD5 CD5 NNP cord-014712-5u4e00q6 1777 7 + + SYM cord-014712-5u4e00q6 1777 8 , , , cord-014712-5u4e00q6 1777 9 CD7 CD7 NNP cord-014712-5u4e00q6 1777 10 + + CC cord-014712-5u4e00q6 1777 11 , , , cord-014712-5u4e00q6 1777 12 CD3 CD3 NNP cord-014712-5u4e00q6 1778 1 + + CC cord-014712-5u4e00q6 1778 2 CD4- CD4- NNP cord-014712-5u4e00q6 1778 3 , , , cord-014712-5u4e00q6 1778 4 CD3 CD3 NNP cord-014712-5u4e00q6 1778 5 + + CC cord-014712-5u4e00q6 1778 6 CD8-cells cd8-cell NNS cord-014712-5u4e00q6 1778 7 in in IN cord-014712-5u4e00q6 1778 8 5 5 CD cord-014712-5u4e00q6 1778 9 patients patient NNS cord-014712-5u4e00q6 1778 10 , , , cord-014712-5u4e00q6 1778 11 CD38 CD38 NNP cord-014712-5u4e00q6 1778 12 + + CC cord-014712-5u4e00q6 1778 13 , , , cord-014712-5u4e00q6 1778 14 CD68 CD68 NNP cord-014712-5u4e00q6 1778 15 + + CC cord-014712-5u4e00q6 1778 16 cells cell NNS cord-014712-5u4e00q6 1778 17 in in IN cord-014712-5u4e00q6 1778 18 1 1 CD cord-014712-5u4e00q6 1778 19 patient patient NN cord-014712-5u4e00q6 1778 20 ; ; : cord-014712-5u4e00q6 1778 21 and and CC cord-014712-5u4e00q6 1778 22 in in IN cord-014712-5u4e00q6 1778 23 restricted restricted JJ cord-014712-5u4e00q6 1778 24 follicular follicular JJ cord-014712-5u4e00q6 1778 25 zones zone NNS cord-014712-5u4e00q6 1778 26 -CD19 -CD19 . cord-014712-5u4e00q6 1779 1 + + UH cord-014712-5u4e00q6 1779 2 , , . cord-014712-5u4e00q6 1780 1 CD22 CD22 NNP cord-014712-5u4e00q6 1780 2 + + CC cord-014712-5u4e00q6 1780 3 , , , cord-014712-5u4e00q6 1780 4 HLA HLA NNP cord-014712-5u4e00q6 1780 5 - - HYPH cord-014712-5u4e00q6 1780 6 DR DR NNP cord-014712-5u4e00q6 1781 1 + + CC cord-014712-5u4e00q6 1781 2 cells cell NNS cord-014712-5u4e00q6 1781 3 in in IN cord-014712-5u4e00q6 1781 4 4 4 CD cord-014712-5u4e00q6 1781 5 patients patient NNS cord-014712-5u4e00q6 1781 6 , , , cord-014712-5u4e00q6 1781 7 CD3 CD3 NNP cord-014712-5u4e00q6 1781 8 + + CC cord-014712-5u4e00q6 1781 9 , , , cord-014712-5u4e00q6 1781 10 CD15 CD15 NNP cord-014712-5u4e00q6 1781 11 + + CC cord-014712-5u4e00q6 1781 12 and and CC cord-014712-5u4e00q6 1781 13 CD68 CD68 NNP cord-014712-5u4e00q6 1781 14 + + CC cord-014712-5u4e00q6 1781 15 in in IN cord-014712-5u4e00q6 1781 16 2 2 CD cord-014712-5u4e00q6 1781 17 patients patient NNS cord-014712-5u4e00q6 1781 18 . . . cord-014712-5u4e00q6 1782 1 The the DT cord-014712-5u4e00q6 1782 2 presentation presentation NN cord-014712-5u4e00q6 1782 3 of of IN cord-014712-5u4e00q6 1782 4 a a DT cord-014712-5u4e00q6 1782 5 case case NN cord-014712-5u4e00q6 1782 6 of of IN cord-014712-5u4e00q6 1782 7 Kimura Kimura NNP cord-014712-5u4e00q6 1782 8 disease disease NN cord-014712-5u4e00q6 1782 9 in in IN cord-014712-5u4e00q6 1782 10 a a DT cord-014712-5u4e00q6 1782 11 patient patient NN cord-014712-5u4e00q6 1782 12 with with IN cord-014712-5u4e00q6 1782 13 WAS be VBD cord-014712-5u4e00q6 1782 14 . . . cord-014712-5u4e00q6 1783 1 The the DT cord-014712-5u4e00q6 1783 2 WAS be VBD cord-014712-5u4e00q6 1783 3 was be VBD cord-014712-5u4e00q6 1783 4 diagnosed diagnose VBN cord-014712-5u4e00q6 1783 5 In in IN cord-014712-5u4e00q6 1783 6 1 1 CD cord-014712-5u4e00q6 1783 7 year year NN cord-014712-5u4e00q6 1783 8 2months 2months CD cord-014712-5u4e00q6 1783 9 , , , cord-014712-5u4e00q6 1783 10 based base VBN cord-014712-5u4e00q6 1783 11 on on IN cord-014712-5u4e00q6 1783 12 infectious infectious JJ cord-014712-5u4e00q6 1783 13 syndrome syndrome NN cord-014712-5u4e00q6 1783 14 , , , cord-014712-5u4e00q6 1783 15 atopic atopic JJ cord-014712-5u4e00q6 1783 16 dermatitis dermatitis NN cord-014712-5u4e00q6 1783 17 , , . cord-014712-5u4e00q6 1784 1 hematological hematological JJ cord-014712-5u4e00q6 1784 2 syndrome syndrome NN cord-014712-5u4e00q6 1784 3 -skin -skin : cord-014712-5u4e00q6 1784 4 hemorrhages hemorrhage NNS cord-014712-5u4e00q6 1784 5 and and CC cord-014712-5u4e00q6 1785 1 thrombocytopenia thrombocytopenia NNP cord-014712-5u4e00q6 1785 2 -25 -25 CD cord-014712-5u4e00q6 1785 3 * * NFP cord-014712-5u4e00q6 1785 4 10 10 CD cord-014712-5u4e00q6 1785 5 9 9 CD cord-014712-5u4e00q6 1785 6 /L. /L. . cord-014712-5u4e00q6 1786 1 After after IN cord-014712-5u4e00q6 1786 2 he -PRON- PRP cord-014712-5u4e00q6 1786 3 performed perform VBD cord-014712-5u4e00q6 1786 4 often often RB cord-014712-5u4e00q6 1786 5 SARS SARS NNP cord-014712-5u4e00q6 1786 6 . . . cord-014712-5u4e00q6 1787 1 Regularly regularly RB cord-014712-5u4e00q6 1787 2 received receive VBD cord-014712-5u4e00q6 1787 3 IVIG IVIG NNP cord-014712-5u4e00q6 1787 4 at at IN cord-014712-5u4e00q6 1787 5 400mg 400mg NNP cord-014712-5u4e00q6 1787 6 / / SYM cord-014712-5u4e00q6 1787 7 kg kg NN cord-014712-5u4e00q6 1787 8 , , , cord-014712-5u4e00q6 1787 9 antibiotic antibiotic JJ cord-014712-5u4e00q6 1787 10 therapy therapy NN cord-014712-5u4e00q6 1787 11 with with IN cord-014712-5u4e00q6 1787 12 a a DT cord-014712-5u4e00q6 1787 13 positive positive JJ cord-014712-5u4e00q6 1787 14 effect effect NN cord-014712-5u4e00q6 1787 15 -infectious -infectious JJ cord-014712-5u4e00q6 1787 16 syndrome syndrome NN cord-014712-5u4e00q6 1787 17 stopped stop VBD cord-014712-5u4e00q6 1787 18 , , , cord-014712-5u4e00q6 1787 19 controlled control VBN cord-014712-5u4e00q6 1787 20 hemorrhagic hemorrhagic JJ cord-014712-5u4e00q6 1787 21 syndrome syndrome NN cord-014712-5u4e00q6 1787 22 . . . cord-014712-5u4e00q6 1788 1 Since since IN cord-014712-5u4e00q6 1788 2 2010 2010 CD cord-014712-5u4e00q6 1788 3 there there EX cord-014712-5u4e00q6 1788 4 was be VBD cord-014712-5u4e00q6 1788 5 a a DT cord-014712-5u4e00q6 1788 6 herpes herpes NN cord-014712-5u4e00q6 1788 7 virus virus NN cord-014712-5u4e00q6 1788 8 infection infection NN cord-014712-5u4e00q6 1788 9 with with IN cord-014712-5u4e00q6 1788 10 frequent frequent JJ cord-014712-5u4e00q6 1788 11 exacerbations exacerbation NNS cord-014712-5u4e00q6 1788 12 on on IN cord-014712-5u4e00q6 1788 13 the the DT cord-014712-5u4e00q6 1788 14 face face NN cord-014712-5u4e00q6 1788 15 . . . cord-014712-5u4e00q6 1789 1 Patient Patient NNP cord-014712-5u4e00q6 1789 2 received receive VBD cord-014712-5u4e00q6 1789 3 acyclovir acyclovir NNP cord-014712-5u4e00q6 1789 4 , , , cord-014712-5u4e00q6 1789 5 valacyclovir valacyclovir NNP cord-014712-5u4e00q6 1789 6 , , , cord-014712-5u4e00q6 1789 7 Famvir Famvir NNP cord-014712-5u4e00q6 1789 8 with with IN cord-014712-5u4e00q6 1789 9 a a DT cord-014712-5u4e00q6 1789 10 temporary temporary JJ cord-014712-5u4e00q6 1789 11 effect effect NN cord-014712-5u4e00q6 1789 12 . . . cord-014712-5u4e00q6 1790 1 In in IN cord-014712-5u4e00q6 1790 2 08.2011 08.2011 CD cord-014712-5u4e00q6 1790 3 on on IN cord-014712-5u4e00q6 1790 4 the the DT cord-014712-5u4e00q6 1790 5 left left JJ cord-014712-5u4e00q6 1790 6 side side NN cord-014712-5u4e00q6 1790 7 of of IN cord-014712-5u4e00q6 1790 8 the the DT cord-014712-5u4e00q6 1790 9 face face NN cord-014712-5u4e00q6 1790 10 -periorbital -periorbital JJ cord-014712-5u4e00q6 1790 11 region region NN cord-014712-5u4e00q6 1790 12 , , , cord-014712-5u4e00q6 1790 13 eyelids eyelid NNS cord-014712-5u4e00q6 1790 14 , , , cord-014712-5u4e00q6 1790 15 malar malar NNP cord-014712-5u4e00q6 1790 16 region region NN cord-014712-5u4e00q6 1790 17 appeared appear VBD cord-014712-5u4e00q6 1790 18 the the DT cord-014712-5u4e00q6 1790 19 site site NN cord-014712-5u4e00q6 1790 20 of of IN cord-014712-5u4e00q6 1790 21 soft soft JJ cord-014712-5u4e00q6 1790 22 tissue tissue NN cord-014712-5u4e00q6 1790 23 hyperproliferation hyperproliferation NNP cord-014712-5u4e00q6 1790 24 10 10 CD cord-014712-5u4e00q6 1790 25 -12 -12 NN cord-014712-5u4e00q6 1790 26 cm cm NNS cord-014712-5u4e00q6 1790 27 in in IN cord-014712-5u4e00q6 1790 28 diameter diameter NN cord-014712-5u4e00q6 1790 29 with with IN cord-014712-5u4e00q6 1790 30 a a DT cord-014712-5u4e00q6 1790 31 thickness thickness NN cord-014712-5u4e00q6 1790 32 of of IN cord-014712-5u4e00q6 1790 33 3 3 CD cord-014712-5u4e00q6 1790 34 - - SYM cord-014712-5u4e00q6 1790 35 4 4 CD cord-014712-5u4e00q6 1790 36 cm cm NNS cord-014712-5u4e00q6 1790 37 , , , cord-014712-5u4e00q6 1790 38 with with IN cord-014712-5u4e00q6 1790 39 moderate moderate JJ cord-014712-5u4e00q6 1790 40 moist moist JJ cord-014712-5u4e00q6 1790 41 , , , cord-014712-5u4e00q6 1790 42 painful painful JJ cord-014712-5u4e00q6 1790 43 on on IN cord-014712-5u4e00q6 1790 44 palpation palpation NN cord-014712-5u4e00q6 1790 45 , , , cord-014712-5u4e00q6 1790 46 the the DT cord-014712-5u4e00q6 1790 47 left left JJ cord-014712-5u4e00q6 1790 48 eye eye NN cord-014712-5u4e00q6 1790 49 was be VBD cord-014712-5u4e00q6 1790 50 closed close VBN cord-014712-5u4e00q6 1790 51 , , , cord-014712-5u4e00q6 1790 52 the the DT cord-014712-5u4e00q6 1790 53 lid lid NN cord-014712-5u4e00q6 1790 54 margin margin NN cord-014712-5u4e00q6 1790 55 ciliated ciliated JJ cord-014712-5u4e00q6 1790 56 dramatically dramatically RB cord-014712-5u4e00q6 1790 57 thickened thicken VBN cord-014712-5u4e00q6 1790 58 , , , cord-014712-5u4e00q6 1790 59 deformed deformed JJ cord-014712-5u4e00q6 1790 60 . . . cord-014712-5u4e00q6 1791 1 In in IN cord-014712-5u4e00q6 1791 2 October October NNP cord-014712-5u4e00q6 1791 3 - - HYPH cord-014712-5u4e00q6 1791 4 November November NNP cord-014712-5u4e00q6 1791 5 2011 2011 CD cord-014712-5u4e00q6 1791 6 was be VBD cord-014712-5u4e00q6 1791 7 admitted admit VBN cord-014712-5u4e00q6 1791 8 in in IN cord-014712-5u4e00q6 1791 9 Diagnostic Diagnostic NNP cord-014712-5u4e00q6 1791 10 department department NN cord-014712-5u4e00q6 1791 11 , , , cord-014712-5u4e00q6 1791 12 massive massive JJ cord-014712-5u4e00q6 1791 13 antibiotic antibiotic NN cord-014712-5u4e00q6 1791 14 , , , cord-014712-5u4e00q6 1791 15 antimycotic antimycotic JJ cord-014712-5u4e00q6 1791 16 , , , cord-014712-5u4e00q6 1791 17 antiviral antiviral JJ cord-014712-5u4e00q6 1791 18 therapy therapy NN cord-014712-5u4e00q6 1791 19 , , , cord-014712-5u4e00q6 1791 20 IVIG IVIG NNP cord-014712-5u4e00q6 1791 21 therapy therapy NN cord-014712-5u4e00q6 1791 22 . . . cord-014712-5u4e00q6 1792 1 The the DT cord-014712-5u4e00q6 1792 2 histological histological JJ cord-014712-5u4e00q6 1792 3 study study NN cord-014712-5u4e00q6 1792 4 showed show VBD cord-014712-5u4e00q6 1792 5 the the DT cord-014712-5u4e00q6 1792 6 angiolimphoid angiolimphoid NNP cord-014712-5u4e00q6 1792 7 hyperplasia hyperplasia NN cord-014712-5u4e00q6 1792 8 with with IN cord-014712-5u4e00q6 1792 9 eosinophilia eosinophilia NN cord-014712-5u4e00q6 1792 10 without without IN cord-014712-5u4e00q6 1792 11 Immunomorphological Immunomorphological NNP cord-014712-5u4e00q6 1792 12 signs sign NNS cord-014712-5u4e00q6 1792 13 of of IN cord-014712-5u4e00q6 1792 14 malignant malignant JJ cord-014712-5u4e00q6 1792 15 tumor tumor NN cord-014712-5u4e00q6 1792 16 growth growth NN cord-014712-5u4e00q6 1792 17 . . . cord-014712-5u4e00q6 1793 1 Based base VBN cord-014712-5u4e00q6 1793 2 on on IN cord-014712-5u4e00q6 1793 3 histological histological JJ cord-014712-5u4e00q6 1793 4 , , , cord-014712-5u4e00q6 1793 5 immunohistochemical immunohistochemical JJ cord-014712-5u4e00q6 1793 6 studies study NNS cord-014712-5u4e00q6 1793 7 of of IN cord-014712-5u4e00q6 1793 8 the the DT cord-014712-5u4e00q6 1793 9 skin skin NN cord-014712-5u4e00q6 1793 10 , , , cord-014712-5u4e00q6 1793 11 these these DT cord-014712-5u4e00q6 1793 12 clinical clinical JJ cord-014712-5u4e00q6 1793 13 and and CC cord-014712-5u4e00q6 1793 14 laboratory laboratory NN cord-014712-5u4e00q6 1793 15 findings finding NNS cord-014712-5u4e00q6 1793 16 , , , cord-014712-5u4e00q6 1793 17 diagnosis diagnosis NN cord-014712-5u4e00q6 1793 18 : : : cord-014712-5u4e00q6 1793 19 mass mass JJ cord-014712-5u4e00q6 1793 20 lesion lesion NN cord-014712-5u4e00q6 1793 21 of of IN cord-014712-5u4e00q6 1793 22 the the DT cord-014712-5u4e00q6 1793 23 left left JJ cord-014712-5u4e00q6 1793 24 face face NN cord-014712-5u4e00q6 1793 25 -Kimura -Kimura VBZ cord-014712-5u4e00q6 1793 26 disease disease NN cord-014712-5u4e00q6 1793 27 . . . cord-014712-5u4e00q6 1794 1 Patient patient NN cord-014712-5u4e00q6 1794 2 helded helde VBD cord-014712-5u4e00q6 1794 3 6 6 CD cord-014712-5u4e00q6 1794 4 courses course NNS cord-014712-5u4e00q6 1794 5 of of IN cord-014712-5u4e00q6 1794 6 chemotherapy chemotherapy NN cord-014712-5u4e00q6 1794 7 with with IN cord-014712-5u4e00q6 1794 8 positive positive JJ cord-014712-5u4e00q6 1794 9 dynamics dynamic NNS cord-014712-5u4e00q6 1794 10 : : : cord-014712-5u4e00q6 1794 11 mass mass NN cord-014712-5u4e00q6 1794 12 lesion lesion NN cord-014712-5u4e00q6 1794 13 decreased decrease VBD cord-014712-5u4e00q6 1794 14 , , , cord-014712-5u4e00q6 1794 15 erosive erosive JJ cord-014712-5u4e00q6 1794 16 surfaces surface NNS cord-014712-5u4e00q6 1794 17 disappeared disappear VBD cord-014712-5u4e00q6 1794 18 and and CC cord-014712-5u4e00q6 1794 19 now now RB cord-014712-5u4e00q6 1794 20 receives receive VBZ cord-014712-5u4e00q6 1794 21 Romiplostimum Romiplostimum NNP cord-014712-5u4e00q6 1794 22 , , , cord-014712-5u4e00q6 1794 23 Acyclovir Acyclovir NNP cord-014712-5u4e00q6 1794 24 , , , cord-014712-5u4e00q6 1794 25 Biseptolum Biseptolum NNP cord-014712-5u4e00q6 1794 26 , , , cord-014712-5u4e00q6 1794 27 IVIG IVIG NNP cord-014712-5u4e00q6 1794 28 0.5 0.5 CD cord-014712-5u4e00q6 1794 29 g g NN cord-014712-5u4e00q6 1794 30 / / SYM cord-014712-5u4e00q6 1794 31 kg kg NN cord-014712-5u4e00q6 1794 32 1 1 CD cord-014712-5u4e00q6 1794 33 time time NN cord-014712-5u4e00q6 1794 34 per per IN cord-014712-5u4e00q6 1794 35 month month NN cord-014712-5u4e00q6 1794 36 . . . cord-014712-5u4e00q6 1795 1 Under under IN cord-014712-5u4e00q6 1795 2 the the DT cord-014712-5u4e00q6 1795 3 observation observation NN cord-014712-5u4e00q6 1795 4 there there EX cord-014712-5u4e00q6 1795 5 is be VBZ cord-014712-5u4e00q6 1795 6 a a DT cord-014712-5u4e00q6 1795 7 family family NN cord-014712-5u4e00q6 1795 8 K. K. NNP cord-014712-5u4e00q6 1795 9 , , , cord-014712-5u4e00q6 1795 10 which which WDT cord-014712-5u4e00q6 1795 11 is be VBZ cord-014712-5u4e00q6 1795 12 unique unique JJ cord-014712-5u4e00q6 1795 13 in in IN cord-014712-5u4e00q6 1795 14 the the DT cord-014712-5u4e00q6 1795 15 deletion deletion NN cord-014712-5u4e00q6 1795 16 variants variant NNS cord-014712-5u4e00q6 1795 17 of of IN cord-014712-5u4e00q6 1795 18 the the DT cord-014712-5u4e00q6 1795 19 same same JJ cord-014712-5u4e00q6 1795 20 region region NN cord-014712-5u4e00q6 1795 21 22q.11.2 22q.11.2 CD cord-014712-5u4e00q6 1795 22 and and CC cord-014712-5u4e00q6 1795 23 the the DT cord-014712-5u4e00q6 1795 24 presence presence NN cord-014712-5u4e00q6 1795 25 of of IN cord-014712-5u4e00q6 1795 26 an an DT cord-014712-5u4e00q6 1795 27 adult adult NN cord-014712-5u4e00q6 1795 28 patient patient NN cord-014712-5u4e00q6 1795 29 with with IN cord-014712-5u4e00q6 1795 30 the the DT cord-014712-5u4e00q6 1795 31 Di Di NNP cord-014712-5u4e00q6 1795 32 George George NNP cord-014712-5u4e00q6 1795 33 syndrome syndrome NN cord-014712-5u4e00q6 1795 34 . . . cord-014712-5u4e00q6 1796 1 Clinical clinical JJ cord-014712-5u4e00q6 1796 2 manifestations manifestation NNS cord-014712-5u4e00q6 1796 3 of of IN cord-014712-5u4e00q6 1796 4 the the DT cord-014712-5u4e00q6 1796 5 syndrome syndrome NN cord-014712-5u4e00q6 1796 6 in in IN cord-014712-5u4e00q6 1796 7 family family NN cord-014712-5u4e00q6 1796 8 members member NNS cord-014712-5u4e00q6 1796 9 is be VBZ cord-014712-5u4e00q6 1796 10 differ differ JJ cord-014712-5u4e00q6 1796 11 . . . cord-014712-5u4e00q6 1797 1 Methods method NNS cord-014712-5u4e00q6 1797 2 : : : cord-014712-5u4e00q6 1797 3 clinical clinical JJ cord-014712-5u4e00q6 1797 4 , , , cord-014712-5u4e00q6 1797 5 laboratory laboratory NN cord-014712-5u4e00q6 1797 6 , , , cord-014712-5u4e00q6 1797 7 instrumental instrumental JJ cord-014712-5u4e00q6 1797 8 and and CC cord-014712-5u4e00q6 1797 9 genetic genetic JJ cord-014712-5u4e00q6 1797 10 ( ( -LRB- cord-014712-5u4e00q6 1797 11 DNA DNA NNP cord-014712-5u4e00q6 1797 12 was be VBD cord-014712-5u4e00q6 1797 13 isolated isolate VBN cord-014712-5u4e00q6 1797 14 using use VBG cord-014712-5u4e00q6 1797 15 a a DT cord-014712-5u4e00q6 1797 16 kit kit NN cord-014712-5u4e00q6 1797 17 « « NN cord-014712-5u4e00q6 1797 18 QIAamp QIAamp NNP cord-014712-5u4e00q6 1797 19 DNA DNA NNP cord-014712-5u4e00q6 1797 20 Mini Mini NNP cord-014712-5u4e00q6 1797 21 Kit kit NN cord-014712-5u4e00q6 1797 22 » » '' cord-014712-5u4e00q6 1797 23 and and CC cord-014712-5u4e00q6 1797 24 DNA DNA NNP cord-014712-5u4e00q6 1797 25 from from IN cord-014712-5u4e00q6 1797 26 dried dry VBN cord-014712-5u4e00q6 1797 27 blood blood NN cord-014712-5u4e00q6 1797 28 spots spot NNS cord-014712-5u4e00q6 1797 29 was be VBD cord-014712-5u4e00q6 1797 30 isolated isolate VBN cord-014712-5u4e00q6 1797 31 using use VBG cord-014712-5u4e00q6 1797 32 a a DT cord-014712-5u4e00q6 1797 33 commercial commercial JJ cord-014712-5u4e00q6 1797 34 kit kit NN cord-014712-5u4e00q6 1797 35 " " `` cord-014712-5u4e00q6 1797 36 DNA dna NN cord-014712-5u4e00q6 1797 37 - - HYPH cord-014712-5u4e00q6 1797 38 sorb sorb NN cord-014712-5u4e00q6 1797 39 - - HYPH cord-014712-5u4e00q6 1797 40 B B NNP cord-014712-5u4e00q6 1797 41 » » NN cord-014712-5u4e00q6 1797 42 . . . cord-014712-5u4e00q6 1798 1 MLPAanalysis MLPAanalysis NNP cord-014712-5u4e00q6 1798 2 set set VBD cord-014712-5u4e00q6 1798 3 SALSA SALSA NNP cord-014712-5u4e00q6 1798 4 MLPA MLPA NNP cord-014712-5u4e00q6 1798 5 probemix probemix XX cord-014712-5u4e00q6 1799 1 P250-B2 P250-B2 NNP cord-014712-5u4e00q6 1799 2 DiGeorge DiGeorge NNP cord-014712-5u4e00q6 1799 3 , , , cord-014712-5u4e00q6 1799 4 Genetic Genetic NNP cord-014712-5u4e00q6 1799 5 Analyzer Analyzer NNP cord-014712-5u4e00q6 1799 6 Applied Applied NNP cord-014712-5u4e00q6 1799 7 Biosystems Biosystems NNP cord-014712-5u4e00q6 1799 8 3500 3500 CD cord-014712-5u4e00q6 1799 9 ) ) -RRB- cord-014712-5u4e00q6 1799 10 . . . cord-014712-5u4e00q6 1800 1 Mother mother NN cord-014712-5u4e00q6 1800 2 ( ( -LRB- cord-014712-5u4e00q6 1800 3 34 34 CD cord-014712-5u4e00q6 1800 4 years year NNS cord-014712-5u4e00q6 1800 5 ) ) -RRB- cord-014712-5u4e00q6 1800 6 , , , cord-014712-5u4e00q6 1800 7 had have VBD cord-014712-5u4e00q6 1800 8 few few JJ cord-014712-5u4e00q6 1800 9 incidents incident NNS cord-014712-5u4e00q6 1800 10 of of IN cord-014712-5u4e00q6 1800 11 pneumonia pneumonia NN cord-014712-5u4e00q6 1800 12 before before IN cord-014712-5u4e00q6 1800 13 10 10 CD cord-014712-5u4e00q6 1800 14 years year NNS cord-014712-5u4e00q6 1800 15 . . . cord-014712-5u4e00q6 1801 1 She -PRON- PRP cord-014712-5u4e00q6 1801 2 was be VBD cord-014712-5u4e00q6 1801 3 diagnosed diagnose VBN cord-014712-5u4e00q6 1801 4 Ullrich Ullrich NNP cord-014712-5u4e00q6 1801 5 - - HYPH cord-014712-5u4e00q6 1801 6 Turner Turner NNP cord-014712-5u4e00q6 1801 7 syndrome syndrome NN cord-014712-5u4e00q6 1801 8 at at IN cord-014712-5u4e00q6 1801 9 age age NN cord-014712-5u4e00q6 1801 10 10 10 CD cord-014712-5u4e00q6 1801 11 years year NNS cord-014712-5u4e00q6 1801 12 . . . cord-014712-5u4e00q6 1802 1 All all DT cord-014712-5u4e00q6 1802 2 childbirths childbirth NNS cord-014712-5u4e00q6 1802 3 by by IN cord-014712-5u4e00q6 1802 4 Caesarean caesarean JJ cord-014712-5u4e00q6 1802 5 section section NN cord-014712-5u4e00q6 1802 6 . . . cord-014712-5u4e00q6 1803 1 She -PRON- PRP cord-014712-5u4e00q6 1803 2 has have VBZ cord-014712-5u4e00q6 1803 3 not not RB cord-014712-5u4e00q6 1803 4 any any DT cord-014712-5u4e00q6 1803 5 laboratory laboratory NN cord-014712-5u4e00q6 1803 6 and and CC cord-014712-5u4e00q6 1803 7 instrumental instrumental JJ cord-014712-5u4e00q6 1803 8 findings finding NNS cord-014712-5u4e00q6 1803 9 of of IN cord-014712-5u4e00q6 1803 10 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1803 11 , , , cord-014712-5u4e00q6 1803 12 endocrinopathy endocrinopathy NNP cord-014712-5u4e00q6 1803 13 , , , cord-014712-5u4e00q6 1803 14 cardiac cardiac NN cord-014712-5u4e00q6 1803 15 and and CC cord-014712-5u4e00q6 1803 16 thyroid thyroid JJ cord-014712-5u4e00q6 1803 17 abnormalities abnormality NNS cord-014712-5u4e00q6 1803 18 . . . cord-014712-5u4e00q6 1804 1 She -PRON- PRP cord-014712-5u4e00q6 1804 2 has have VBZ cord-014712-5u4e00q6 1804 3 deletion deletion NN cord-014712-5u4e00q6 1804 4 in in IN cord-014712-5u4e00q6 1804 5 the the DT cord-014712-5u4e00q6 1804 6 starting starting NN cord-014712-5u4e00q6 1804 7 area area NN cord-014712-5u4e00q6 1804 8 of of IN cord-014712-5u4e00q6 1804 9 the the DT cord-014712-5u4e00q6 1804 10 Di Di NNP cord-014712-5u4e00q6 1804 11 George George NNP cord-014712-5u4e00q6 1804 12 region region NN cord-014712-5u4e00q6 1804 13 ( ( -LRB- cord-014712-5u4e00q6 1804 14 LCR22-A LCR22-A NNP cord-014712-5u4e00q6 1804 15 ) ) -RRB- cord-014712-5u4e00q6 1804 16 , , , cord-014712-5u4e00q6 1804 17 including include VBG cord-014712-5u4e00q6 1804 18 genes gene NNS cord-014712-5u4e00q6 1804 19 CLTCL1 CLTCL1 NNP cord-014712-5u4e00q6 1804 20 , , , cord-014712-5u4e00q6 1804 21 HIRA HIRA NNP cord-014712-5u4e00q6 1804 22 , , , cord-014712-5u4e00q6 1804 23 CDC45 CDC45 NNP cord-014712-5u4e00q6 1804 24 , , , cord-014712-5u4e00q6 1804 25 CLDN5 CLDN5 NNP cord-014712-5u4e00q6 1804 26 , , , cord-014712-5u4e00q6 1804 27 GP1BB GP1BB NNP cord-014712-5u4e00q6 1804 28 , , , cord-014712-5u4e00q6 1804 29 TBX1 TBX1 NNP cord-014712-5u4e00q6 1804 30 , , , cord-014712-5u4e00q6 1804 31 TXNRD2 txnrd2 NN cord-014712-5u4e00q6 1804 32 , , , cord-014712-5u4e00q6 1804 33 DGCR8 DGCR8 NNP cord-014712-5u4e00q6 1804 34 . . . cord-014712-5u4e00q6 1805 1 Father Father NNP cord-014712-5u4e00q6 1805 2 ( ( -LRB- cord-014712-5u4e00q6 1805 3 36 36 CD cord-014712-5u4e00q6 1805 4 years year NNS cord-014712-5u4e00q6 1805 5 ) ) -RRB- cord-014712-5u4e00q6 1805 6 , , , cord-014712-5u4e00q6 1805 7 healthy healthy JJ cord-014712-5u4e00q6 1805 8 , , , cord-014712-5u4e00q6 1805 9 current current JJ cord-014712-5u4e00q6 1805 10 smoker smoker NN cord-014712-5u4e00q6 1805 11 . . . cord-014712-5u4e00q6 1806 1 The the DT cord-014712-5u4e00q6 1806 2 DNA dna NN cord-014712-5u4e00q6 1806 3 microstructural microstructural JJ cord-014712-5u4e00q6 1806 4 violations violation NNS cord-014712-5u4e00q6 1806 5 in in IN cord-014712-5u4e00q6 1806 6 Di Di NNP cord-014712-5u4e00q6 1806 7 George George NNP cord-014712-5u4e00q6 1806 8 region region NN cord-014712-5u4e00q6 1806 9 have have VBP cord-014712-5u4e00q6 1806 10 n't not RB cord-014712-5u4e00q6 1806 11 been be VBN cord-014712-5u4e00q6 1806 12 identified identify VBN cord-014712-5u4e00q6 1806 13 . . . cord-014712-5u4e00q6 1807 1 Son Son NNP cord-014712-5u4e00q6 1807 2 was be VBD cord-014712-5u4e00q6 1807 3 from from IN cord-014712-5u4e00q6 1807 4 I -PRON- PRP cord-014712-5u4e00q6 1807 5 pregnancy pregnancy NN cord-014712-5u4e00q6 1807 6 , , , cord-014712-5u4e00q6 1807 7 heart heart NN cord-014712-5u4e00q6 1807 8 defect defect NN cord-014712-5u4e00q6 1807 9 was be VBD cord-014712-5u4e00q6 1807 10 set set VBN cord-014712-5u4e00q6 1807 11 prenatally prenatally RB cord-014712-5u4e00q6 1807 12 , , , cord-014712-5u4e00q6 1807 13 marked mark VBN cord-014712-5u4e00q6 1807 14 growth growth NN cord-014712-5u4e00q6 1807 15 retardation retardation NN cord-014712-5u4e00q6 1807 16 . . . cord-014712-5u4e00q6 1808 1 Childbirth childbirth NN cord-014712-5u4e00q6 1808 2 at at IN cord-014712-5u4e00q6 1808 3 38 38 CD cord-014712-5u4e00q6 1808 4 weeks week NNS cord-014712-5u4e00q6 1808 5 . . . cord-014712-5u4e00q6 1809 1 He -PRON- PRP cord-014712-5u4e00q6 1809 2 had have VBD cord-014712-5u4e00q6 1809 3 unstable unstable JJ cord-014712-5u4e00q6 1809 4 reduced reduce VBN cord-014712-5u4e00q6 1809 5 cell cell NN cord-014712-5u4e00q6 1809 6 parameters parameter NNS cord-014712-5u4e00q6 1809 7 and and CC cord-014712-5u4e00q6 1809 8 hypogammaglobulinemia hypogammaglobulinemia NN cord-014712-5u4e00q6 1809 9 , , , cord-014712-5u4e00q6 1809 10 the the DT cord-014712-5u4e00q6 1809 11 size size NN cord-014712-5u4e00q6 1809 12 reduction reduction NN cord-014712-5u4e00q6 1809 13 of of IN cord-014712-5u4e00q6 1809 14 the the DT cord-014712-5u4e00q6 1809 15 thymus thymus NN cord-014712-5u4e00q6 1809 16 and and CC cord-014712-5u4e00q6 1809 17 congenital congenital JJ cord-014712-5u4e00q6 1809 18 heart heart NN cord-014712-5u4e00q6 1809 19 disease disease NN cord-014712-5u4e00q6 1809 20 : : : cord-014712-5u4e00q6 1809 21 truncus truncus NNP cord-014712-5u4e00q6 1809 22 arteriosus arteriosus NNP cord-014712-5u4e00q6 1809 23 , , , cord-014712-5u4e00q6 1809 24 DC DC NNP cord-014712-5u4e00q6 1809 25 2b 2b CD cord-014712-5u4e00q6 1809 26 stage stage NN cord-014712-5u4e00q6 1809 27 by by IN cord-014712-5u4e00q6 1809 28 Lang Lang NNP cord-014712-5u4e00q6 1809 29 . . . cord-014712-5u4e00q6 1810 1 After after IN cord-014712-5u4e00q6 1810 2 42 42 CD cord-014712-5u4e00q6 1810 3 days day NNS cord-014712-5u4e00q6 1810 4 of of IN cord-014712-5u4e00q6 1810 5 life life NN cord-014712-5u4e00q6 1810 6 operated operate VBN cord-014712-5u4e00q6 1810 7 for for IN cord-014712-5u4e00q6 1810 8 congenital congenital JJ cord-014712-5u4e00q6 1810 9 heart heart NN cord-014712-5u4e00q6 1810 10 disease disease NN cord-014712-5u4e00q6 1810 11 . . . cord-014712-5u4e00q6 1811 1 During during IN cord-014712-5u4e00q6 1811 2 the the DT cord-014712-5u4e00q6 1811 3 surgical surgical JJ cord-014712-5u4e00q6 1811 4 intervention intervention NN cord-014712-5u4e00q6 1811 5 the the DT cord-014712-5u4e00q6 1811 6 thymus thymus NN cord-014712-5u4e00q6 1811 7 was be VBD cord-014712-5u4e00q6 1811 8 n't not RB cord-014712-5u4e00q6 1811 9 found find VBN cord-014712-5u4e00q6 1811 10 in in IN cord-014712-5u4e00q6 1811 11 a a DT cord-014712-5u4e00q6 1811 12 typical typical JJ cord-014712-5u4e00q6 1811 13 place place NN cord-014712-5u4e00q6 1811 14 . . . cord-014712-5u4e00q6 1812 1 The the DT cord-014712-5u4e00q6 1812 2 postoperative postoperative JJ cord-014712-5u4e00q6 1812 3 period period NN cord-014712-5u4e00q6 1812 4 was be VBD cord-014712-5u4e00q6 1812 5 complicated complicate VBN cord-014712-5u4e00q6 1812 6 by by IN cord-014712-5u4e00q6 1812 7 sepsis sepsis NN cord-014712-5u4e00q6 1812 8 , , , cord-014712-5u4e00q6 1812 9 heart heart NN cord-014712-5u4e00q6 1812 10 and and CC cord-014712-5u4e00q6 1812 11 respiratory respiratory JJ cord-014712-5u4e00q6 1812 12 failure failure NN cord-014712-5u4e00q6 1812 13 . . . cord-014712-5u4e00q6 1813 1 Received receive VBN cord-014712-5u4e00q6 1813 2 IVIG IVIG NNP cord-014712-5u4e00q6 1813 3 , , , cord-014712-5u4e00q6 1813 4 antibiotic antibiotic JJ cord-014712-5u4e00q6 1813 5 and and CC cord-014712-5u4e00q6 1813 6 antifungal antifungal JJ cord-014712-5u4e00q6 1813 7 therapy therapy NN cord-014712-5u4e00q6 1813 8 . . . cord-014712-5u4e00q6 1814 1 He -PRON- PRP cord-014712-5u4e00q6 1814 2 suffered suffer VBD cord-014712-5u4e00q6 1814 3 from from IN cord-014712-5u4e00q6 1814 4 SARS SARS NNP cord-014712-5u4e00q6 1814 5 , , , cord-014712-5u4e00q6 1814 6 severe severe JJ cord-014712-5u4e00q6 1814 7 course course NN cord-014712-5u4e00q6 1814 8 , , , cord-014712-5u4e00q6 1814 9 the the DT cord-014712-5u4e00q6 1814 10 degree degree NN cord-014712-5u4e00q6 1814 11 of of IN cord-014712-5u4e00q6 1814 12 respiratory respiratory JJ cord-014712-5u4e00q6 1814 13 failure failure NN cord-014712-5u4e00q6 1814 14 2 2 CD cord-014712-5u4e00q6 1814 15 ( ( -LRB- cord-014712-5u4e00q6 1814 16 8 8 CD cord-014712-5u4e00q6 1814 17 months month NNS cord-014712-5u4e00q6 1814 18 ) ) -RRB- cord-014712-5u4e00q6 1814 19 -death -death CD cord-014712-5u4e00q6 1814 20 . . . cord-014712-5u4e00q6 1815 1 In in IN cord-014712-5u4e00q6 1815 2 MLPA MLPA NNP cord-014712-5u4e00q6 1815 3 - - HYPH cord-014712-5u4e00q6 1815 4 DNA DNA NNP cord-014712-5u4e00q6 1815 5 defined define VBN cord-014712-5u4e00q6 1815 6 microdeletion microdeletion NN cord-014712-5u4e00q6 1815 7 disorders disorder NNS cord-014712-5u4e00q6 1815 8 starting start VBG cord-014712-5u4e00q6 1815 9 region region NN cord-014712-5u4e00q6 1815 10 Di Di NNP cord-014712-5u4e00q6 1815 11 George George NNP cord-014712-5u4e00q6 1815 12 ( ( -LRB- cord-014712-5u4e00q6 1815 13 LCR22-A LCR22-A NNP cord-014712-5u4e00q6 1815 14 ) ) -RRB- cord-014712-5u4e00q6 1816 1 -from -from JJ cord-014712-5u4e00q6 1817 1 the the DT cord-014712-5u4e00q6 1817 2 4-year 4-year JJ cord-014712-5u4e00q6 1817 3 - - HYPH cord-014712-5u4e00q6 1817 4 old old JJ cord-014712-5u4e00q6 1817 5 dry dry JJ cord-014712-5u4e00q6 1817 6 blood blood NN cord-014712-5u4e00q6 1817 7 sample sample NN cord-014712-5u4e00q6 1817 8 ( ( -LRB- cord-014712-5u4e00q6 1817 9 postmortem postmortem JJ cord-014712-5u4e00q6 1817 10 study study NN cord-014712-5u4e00q6 1817 11 _SP cord-014712-5u4e00q6 1817 12 A a DT cord-014712-5u4e00q6 1817 13 3 3 CD cord-014712-5u4e00q6 1817 14 year year NN cord-014712-5u4e00q6 1817 15 old old JJ cord-014712-5u4e00q6 1817 16 boy boy NN cord-014712-5u4e00q6 1817 17 with with IN cord-014712-5u4e00q6 1817 18 bleeding bleeding NN cord-014712-5u4e00q6 1817 19 , , , cord-014712-5u4e00q6 1817 20 eczema eczema NN cord-014712-5u4e00q6 1817 21 and and CC cord-014712-5u4e00q6 1817 22 recurrent recurrent JJ cord-014712-5u4e00q6 1817 23 pyogenic pyogenic JJ cord-014712-5u4e00q6 1817 24 infection infection NN cord-014712-5u4e00q6 1817 25 was be VBD cord-014712-5u4e00q6 1817 26 admitted admit VBN cord-014712-5u4e00q6 1817 27 to to IN cord-014712-5u4e00q6 1817 28 our -PRON- PRP$ cord-014712-5u4e00q6 1817 29 department department NN cord-014712-5u4e00q6 1817 30 . . . cord-014712-5u4e00q6 1818 1 The the DT cord-014712-5u4e00q6 1818 2 child child NN cord-014712-5u4e00q6 1818 3 who who WP cord-014712-5u4e00q6 1818 4 received receive VBD cord-014712-5u4e00q6 1818 5 treatment treatment NN cord-014712-5u4e00q6 1818 6 in in IN cord-014712-5u4e00q6 1818 7 hematology hematology NN cord-014712-5u4e00q6 1818 8 accidentally accidentally RB cord-014712-5u4e00q6 1818 9 a a DT cord-014712-5u4e00q6 1818 10 few few JJ cord-014712-5u4e00q6 1818 11 times time NNS cord-014712-5u4e00q6 1818 12 , , , cord-014712-5u4e00q6 1818 13 but but CC cord-014712-5u4e00q6 1818 14 has have VBZ cord-014712-5u4e00q6 1818 15 not not RB cord-014712-5u4e00q6 1818 16 had have VBN cord-014712-5u4e00q6 1818 17 the the DT cord-014712-5u4e00q6 1818 18 effect effect NN cord-014712-5u4e00q6 1818 19 of of IN cord-014712-5u4e00q6 1818 20 treatment treatment NN cord-014712-5u4e00q6 1818 21 . . . cord-014712-5u4e00q6 1819 1 Laboratory laboratory NN cord-014712-5u4e00q6 1819 2 parameters parameter NNS cord-014712-5u4e00q6 1819 3 -CD3-cells-59 -cd3-cells-59 IN cord-014712-5u4e00q6 1819 4 % % NN cord-014712-5u4e00q6 1819 5 ( ( -LRB- cord-014712-5u4e00q6 1819 6 5550 5550 CD cord-014712-5u4e00q6 1819 7 ) ) -RRB- cord-014712-5u4e00q6 1819 8 , , , cord-014712-5u4e00q6 1819 9 CD4-cells cd4-cell NNS cord-014712-5u4e00q6 1819 10 -22 -22 IN cord-014712-5u4e00q6 1819 11 % % NN cord-014712-5u4e00q6 1819 12 ( ( -LRB- cord-014712-5u4e00q6 1819 13 1221 1221 CD cord-014712-5u4e00q6 1819 14 ) ) -RRB- cord-014712-5u4e00q6 1819 15 , , , cord-014712-5u4e00q6 1819 16 CD8-cells CD8-cells NNP cord-014712-5u4e00q6 1819 17 -37 -37 NNP cord-014712-5u4e00q6 1819 18 % % NN cord-014712-5u4e00q6 1819 19 ( ( -LRB- cord-014712-5u4e00q6 1819 20 2053 2053 CD cord-014712-5u4e00q6 1819 21 ) ) -RRB- cord-014712-5u4e00q6 1819 22 , , , cord-014712-5u4e00q6 1819 23 CD19-cells CD19-cells NNP cord-014712-5u4e00q6 1819 24 -29 -29 CD cord-014712-5u4e00q6 1819 25 % % NN cord-014712-5u4e00q6 1819 26 ( ( -LRB- cord-014712-5u4e00q6 1819 27 2728 2728 CD cord-014712-5u4e00q6 1819 28 ) ) -RRB- cord-014712-5u4e00q6 1819 29 , , , cord-014712-5u4e00q6 1819 30 CD16 CD16 NNP cord-014712-5u4e00q6 1819 31 / / SYM cord-014712-5u4e00q6 1819 32 56-cells 56-cells CD cord-014712-5u4e00q6 1819 33 -15 -15 CD cord-014712-5u4e00q6 1819 34 % % NN cord-014712-5u4e00q6 1819 35 ( ( -LRB- cord-014712-5u4e00q6 1819 36 1411 1411 CD cord-014712-5u4e00q6 1819 37 ) ) -RRB- cord-014712-5u4e00q6 1819 38 , , , cord-014712-5u4e00q6 1819 39 CD4 CD4 NNP cord-014712-5u4e00q6 1819 40 / / SYM cord-014712-5u4e00q6 1819 41 CD8 CD8 NNP cord-014712-5u4e00q6 1819 42 - - HYPH cord-014712-5u4e00q6 1819 43 0.59 0.59 CD cord-014712-5u4e00q6 1819 44 , , , cord-014712-5u4e00q6 1819 45 HLA HLA NNP cord-014712-5u4e00q6 1819 46 - - HYPH cord-014712-5u4e00q6 1819 47 DR-22 DR-22 NNP cord-014712-5u4e00q6 1819 48 , , , cord-014712-5u4e00q6 1819 49 NBT-73 NBT-73 NNPS cord-014712-5u4e00q6 1819 50 . . . cord-014712-5u4e00q6 1820 1 IgG-14.6 IgG-14.6 NNP cord-014712-5u4e00q6 1821 1 q q NNP cord-014712-5u4e00q6 1821 2 /l /l NNP cord-014712-5u4e00q6 1821 3 , , , cord-014712-5u4e00q6 1821 4 IgA-3.3 IgA-3.3 NNP cord-014712-5u4e00q6 1822 1 q q NNP cord-014712-5u4e00q6 1822 2 / / SYM cord-014712-5u4e00q6 1822 3 l l NNP cord-014712-5u4e00q6 1822 4 , , , cord-014712-5u4e00q6 1822 5 IgM IgM NNP cord-014712-5u4e00q6 1822 6 -4.3 -4.3 NNP cord-014712-5u4e00q6 1822 7 q q NNP cord-014712-5u4e00q6 1822 8 / / SYM cord-014712-5u4e00q6 1822 9 l l NN cord-014712-5u4e00q6 1822 10 , , , cord-014712-5u4e00q6 1822 11 IgE-328 ige-328 RB cord-014712-5u4e00q6 1822 12 U u NN cord-014712-5u4e00q6 1822 13 / / SYM cord-014712-5u4e00q6 1822 14 ml ml NN cord-014712-5u4e00q6 1822 15 . . . cord-014712-5u4e00q6 1822 16 HB-40 HB-40 NNP cord-014712-5u4e00q6 1822 17 g g NNP cord-014712-5u4e00q6 1822 18 / / SYM cord-014712-5u4e00q6 1822 19 l l NN cord-014712-5u4e00q6 1822 20 , , , cord-014712-5u4e00q6 1822 21 erythrocytes-1.75x erythrocytes-1.75x NN cord-014712-5u4e00q6 1822 22 10 10 CD cord-014712-5u4e00q6 1822 23 12 12 CD cord-014712-5u4e00q6 1822 24 / / SYM cord-014712-5u4e00q6 1822 25 l l NN cord-014712-5u4e00q6 1822 26 , , , cord-014712-5u4e00q6 1822 27 leukosytes leukosytes NNP cord-014712-5u4e00q6 1822 28 -15.6x10 -15.6x10 NNP cord-014712-5u4e00q6 1822 29 9 9 CD cord-014712-5u4e00q6 1822 30 / / SYM cord-014712-5u4e00q6 1822 31 l l NN cord-014712-5u4e00q6 1822 32 , , , cord-014712-5u4e00q6 1822 33 neutrophils-31 neutrophils-31 CD cord-014712-5u4e00q6 1822 34 % % NN cord-014712-5u4e00q6 1822 35 , , , cord-014712-5u4e00q6 1822 36 lymphocytes lymphocyte VBZ cord-014712-5u4e00q6 1822 37 -56 -56 IN cord-014712-5u4e00q6 1822 38 % % NN cord-014712-5u4e00q6 1822 39 ( ( -LRB- cord-014712-5u4e00q6 1822 40 9408 9408 CD cord-014712-5u4e00q6 1822 41 ) ) -RRB- cord-014712-5u4e00q6 1822 42 , , , cord-014712-5u4e00q6 1822 43 eosinophils-2 eosinophils-2 NNP cord-014712-5u4e00q6 1822 44 % % NN cord-014712-5u4e00q6 1822 45 , , , cord-014712-5u4e00q6 1822 46 monocytes-2 monocytes-2 NNP cord-014712-5u4e00q6 1822 47 % % NN cord-014712-5u4e00q6 1822 48 , , , cord-014712-5u4e00q6 1822 49 metamielosytes:-9 metamielosytes:-9 NNP cord-014712-5u4e00q6 1822 50 % % NN cord-014712-5u4e00q6 1822 51 , , , cord-014712-5u4e00q6 1822 52 plateletsrare plateletsrare NNP cord-014712-5u4e00q6 1822 53 was be VBD cord-014712-5u4e00q6 1822 54 observed observe VBN cord-014712-5u4e00q6 1822 55 . . . cord-014712-5u4e00q6 1823 1 Normal normal JJ cord-014712-5u4e00q6 1823 2 bone bone NN cord-014712-5u4e00q6 1823 3 marrow marrow NN cord-014712-5u4e00q6 1823 4 cells cell NNS cord-014712-5u4e00q6 1823 5 , , , cord-014712-5u4e00q6 1823 6 the the DT cord-014712-5u4e00q6 1823 7 separation separation NN cord-014712-5u4e00q6 1823 8 of of IN cord-014712-5u4e00q6 1823 9 platelets platelet NNS cord-014712-5u4e00q6 1823 10 from from IN cord-014712-5u4e00q6 1823 11 meqakariosyt meqakariosyt NNP cord-014712-5u4e00q6 1823 12 has have VBZ cord-014712-5u4e00q6 1823 13 become become VBN cord-014712-5u4e00q6 1823 14 weak weak JJ cord-014712-5u4e00q6 1823 15 . . . cord-014712-5u4e00q6 1824 1 The the DT cord-014712-5u4e00q6 1824 2 advantage advantage NN cord-014712-5u4e00q6 1824 3 of of IN cord-014712-5u4e00q6 1824 4 erythroid erythroid NN cord-014712-5u4e00q6 1824 5 unordered unordered JJ cord-014712-5u4e00q6 1824 6 have have VBP cord-014712-5u4e00q6 1824 7 been be VBN cord-014712-5u4e00q6 1824 8 observed observe VBN cord-014712-5u4e00q6 1824 9 . . . cord-014712-5u4e00q6 1825 1 Bone bone NN cord-014712-5u4e00q6 1825 2 marrow marrow NN cord-014712-5u4e00q6 1825 3 puncture puncture VBP cord-014712-5u4e00q6 1825 4 the the DT cord-014712-5u4e00q6 1825 5 mielokariosytes mielokariosytes NNPS cord-014712-5u4e00q6 1825 6 -87.0 -87.0 ADD cord-014712-5u4e00q6 1826 1 x10 x10 NNP cord-014712-5u4e00q6 1826 2 9 9 CD cord-014712-5u4e00q6 1826 3 / / SYM cord-014712-5u4e00q6 1826 4 l l NNP cord-014712-5u4e00q6 1826 5 , , , cord-014712-5u4e00q6 1826 6 meqakariosytes meqakariosytes NNP cord-014712-5u4e00q6 1826 7 -0.01x10 -0.01x10 NNP cord-014712-5u4e00q6 1826 8 9 9 CD cord-014712-5u4e00q6 1826 9 / / SYM cord-014712-5u4e00q6 1826 10 l l NNP cord-014712-5u4e00q6 1826 11 , , , cord-014712-5u4e00q6 1826 12 blasts-1.2 blasts-1.2 NNP cord-014712-5u4e00q6 1826 13 % % NN cord-014712-5u4e00q6 1826 14 , , , cord-014712-5u4e00q6 1826 15 myelosytes myelosyte VBZ cord-014712-5u4e00q6 1826 16 -7.4 -7.4 NNP cord-014712-5u4e00q6 1826 17 % % NN cord-014712-5u4e00q6 1826 18 , , , cord-014712-5u4e00q6 1826 19 metamyelosytes metamyelosytes NNP cord-014712-5u4e00q6 1826 20 -9.2 -9.2 NNP cord-014712-5u4e00q6 1826 21 % % NN cord-014712-5u4e00q6 1826 22 , , , cord-014712-5u4e00q6 1826 23 seqments seqment NNS cord-014712-5u4e00q6 1826 24 -14.2 -14.2 XX cord-014712-5u4e00q6 1827 1 % % NN cord-014712-5u4e00q6 1827 2 neutrophils-% neutrophils-% NNP cord-014712-5u4e00q6 1827 3 51.6 51.6 CD cord-014712-5u4e00q6 1827 4 , , , cord-014712-5u4e00q6 1827 5 eosinophils-1.4 eosinophils-1.4 VB cord-014712-5u4e00q6 1827 6 % % NN cord-014712-5u4e00q6 1827 7 , , , cord-014712-5u4e00q6 1827 8 lymphocytes-5.8 lymphocytes-5.8 CD cord-014712-5u4e00q6 1827 9 % % NN cord-014712-5u4e00q6 1827 10 , , , cord-014712-5u4e00q6 1827 11 monocytes-0.4 monocytes-0.4 NNS cord-014712-5u4e00q6 1827 12 % % NN cord-014712-5u4e00q6 1827 13 erythroblasts-2.0 erythroblasts-2.0 CD cord-014712-5u4e00q6 1827 14 % % NN cord-014712-5u4e00q6 1827 15 , , , cord-014712-5u4e00q6 1827 16 pronormoblasts-2.8 pronormoblasts-2.8 VBG cord-014712-5u4e00q6 1827 17 % % NN cord-014712-5u4e00q6 1827 18 , , , cord-014712-5u4e00q6 1827 19 normoblasts-40.0 normoblasts-40.0 NNP cord-014712-5u4e00q6 1827 20 % % NN cord-014712-5u4e00q6 1827 21 meqakariosytes meqakariosyte NNS cord-014712-5u4e00q6 1827 22 -0.4 -0.4 CD cord-014712-5u4e00q6 1827 23 % % NN cord-014712-5u4e00q6 1827 24 , , , cord-014712-5u4e00q6 1828 1 plasmatic plasmatic NNP cord-014712-5u4e00q6 1828 2 cells-0.2%.His cells-0.2%.His NNP cord-014712-5u4e00q6 1828 3 younger young JJR cord-014712-5u4e00q6 1828 4 brother brother NN cord-014712-5u4e00q6 1828 5 with with IN cord-014712-5u4e00q6 1828 6 eczema eczema NN cord-014712-5u4e00q6 1828 7 , , , cord-014712-5u4e00q6 1829 1 pyogenic pyogenic JJ cord-014712-5u4e00q6 1829 2 infections infection NNS cord-014712-5u4e00q6 1829 3 ( ( -LRB- cord-014712-5u4e00q6 1829 4 furunculosis furunculosis NNP cord-014712-5u4e00q6 1829 5 ) ) -RRB- cord-014712-5u4e00q6 1829 6 was be VBD cord-014712-5u4e00q6 1829 7 admitted admit VBN cord-014712-5u4e00q6 1829 8 to to IN cord-014712-5u4e00q6 1829 9 our -PRON- PRP$ cord-014712-5u4e00q6 1829 10 department department NN cord-014712-5u4e00q6 1829 11 . . . cord-014712-5u4e00q6 1830 1 CD3 CD3 NNP cord-014712-5u4e00q6 1830 2 - - HYPH cord-014712-5u4e00q6 1830 3 38 38 CD cord-014712-5u4e00q6 1830 4 % % NN cord-014712-5u4e00q6 1830 5 ( ( -LRB- cord-014712-5u4e00q6 1830 6 1761 1761 CD cord-014712-5u4e00q6 1830 7 ) ) -RRB- cord-014712-5u4e00q6 1831 1 Ataxia Ataxia NNP cord-014712-5u4e00q6 1831 2 telangiectasia telangiectasia NNP cord-014712-5u4e00q6 1831 3 ( ( -LRB- cord-014712-5u4e00q6 1831 4 A A NNP cord-014712-5u4e00q6 1831 5 - - HYPH cord-014712-5u4e00q6 1831 6 T T NNP cord-014712-5u4e00q6 1831 7 ) ) -RRB- cord-014712-5u4e00q6 1831 8 , , , cord-014712-5u4e00q6 1831 9 is be VBZ cord-014712-5u4e00q6 1831 10 a a DT cord-014712-5u4e00q6 1831 11 genetic genetic JJ cord-014712-5u4e00q6 1831 12 disorder disorder NN cord-014712-5u4e00q6 1831 13 caused cause VBN cord-014712-5u4e00q6 1831 14 by by IN cord-014712-5u4e00q6 1831 15 the the DT cord-014712-5u4e00q6 1831 16 homozygous homozygous JJ cord-014712-5u4e00q6 1831 17 mutation mutation NN cord-014712-5u4e00q6 1831 18 of of IN cord-014712-5u4e00q6 1831 19 the the DT cord-014712-5u4e00q6 1831 20 ATM ATM NNP cord-014712-5u4e00q6 1831 21 gene gene NN cord-014712-5u4e00q6 1831 22 and and CC cord-014712-5u4e00q6 1831 23 , , , cord-014712-5u4e00q6 1831 24 frequently frequently RB cord-014712-5u4e00q6 1831 25 associates associate VBZ cord-014712-5u4e00q6 1831 26 with with IN cord-014712-5u4e00q6 1831 27 variable variable JJ cord-014712-5u4e00q6 1831 28 degrees degree NNS cord-014712-5u4e00q6 1831 29 of of IN cord-014712-5u4e00q6 1831 30 cellular cellular JJ cord-014712-5u4e00q6 1831 31 and and CC cord-014712-5u4e00q6 1831 32 humoral humoral JJ cord-014712-5u4e00q6 1831 33 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1831 34 . . . cord-014712-5u4e00q6 1832 1 However however RB cord-014712-5u4e00q6 1832 2 , , , cord-014712-5u4e00q6 1832 3 the the DT cord-014712-5u4e00q6 1832 4 immune immune JJ cord-014712-5u4e00q6 1832 5 defects defect NNS cord-014712-5u4e00q6 1832 6 in in IN cord-014712-5u4e00q6 1832 7 patients patient NNS cord-014712-5u4e00q6 1832 8 with with IN cord-014712-5u4e00q6 1832 9 A A NNP cord-014712-5u4e00q6 1832 10 - - HYPH cord-014712-5u4e00q6 1832 11 T T NNP cord-014712-5u4e00q6 1832 12 are be VBP cord-014712-5u4e00q6 1832 13 not not RB cord-014712-5u4e00q6 1832 14 well well RB cord-014712-5u4e00q6 1832 15 characterized characterize VBN cord-014712-5u4e00q6 1832 16 . . . cord-014712-5u4e00q6 1833 1 To to IN cord-014712-5u4e00q6 1833 2 our -PRON- PRP$ cord-014712-5u4e00q6 1833 3 knowledge knowledge NN cord-014712-5u4e00q6 1833 4 , , , cord-014712-5u4e00q6 1833 5 there there EX cord-014712-5u4e00q6 1833 6 is be VBZ cord-014712-5u4e00q6 1833 7 no no DT cord-014712-5u4e00q6 1833 8 work work NN cord-014712-5u4e00q6 1833 9 on on IN cord-014712-5u4e00q6 1833 10 major major JJ cord-014712-5u4e00q6 1833 11 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1833 12 subpopulations subpopulation NNS cord-014712-5u4e00q6 1833 13 and and CC cord-014712-5u4e00q6 1833 14 recent recent JJ cord-014712-5u4e00q6 1833 15 thymic thymic JJ cord-014712-5u4e00q6 1833 16 emigrants emigrant NNS cord-014712-5u4e00q6 1833 17 of of IN cord-014712-5u4e00q6 1833 18 A A NNP cord-014712-5u4e00q6 1833 19 - - HYPH cord-014712-5u4e00q6 1833 20 T t NN cord-014712-5u4e00q6 1833 21 patients patient NNS cord-014712-5u4e00q6 1833 22 comparing compare VBG cord-014712-5u4e00q6 1833 23 to to IN cord-014712-5u4e00q6 1833 24 age age NN cord-014712-5u4e00q6 1833 25 - - HYPH cord-014712-5u4e00q6 1833 26 matched match VBN cord-014712-5u4e00q6 1833 27 healthy healthy JJ cord-014712-5u4e00q6 1833 28 controls control NNS cord-014712-5u4e00q6 1833 29 . . . cord-014712-5u4e00q6 1834 1 According accord VBG cord-014712-5u4e00q6 1834 2 to to IN cord-014712-5u4e00q6 1834 3 ESID ESID NNP cord-014712-5u4e00q6 1834 4 criteria criterion NNS cord-014712-5u4e00q6 1834 5 , , , cord-014712-5u4e00q6 1834 6 17 17 CD cord-014712-5u4e00q6 1834 7 patients patient NNS cord-014712-5u4e00q6 1834 8 diagnosed diagnose VBN cord-014712-5u4e00q6 1834 9 as as IN cord-014712-5u4e00q6 1834 10 A A NNP cord-014712-5u4e00q6 1834 11 - - HYPH cord-014712-5u4e00q6 1834 12 T t NN cord-014712-5u4e00q6 1834 13 and and CC cord-014712-5u4e00q6 1834 14 12 12 CD cord-014712-5u4e00q6 1834 15 agematched agematche VBD cord-014712-5u4e00q6 1834 16 healthy healthy JJ cord-014712-5u4e00q6 1834 17 children child NNS cord-014712-5u4e00q6 1834 18 were be VBD cord-014712-5u4e00q6 1834 19 assigned assign VBN cord-014712-5u4e00q6 1834 20 to to IN cord-014712-5u4e00q6 1834 21 the the DT cord-014712-5u4e00q6 1834 22 study study NN cord-014712-5u4e00q6 1834 23 . . . cord-014712-5u4e00q6 1835 1 Both both DT cord-014712-5u4e00q6 1835 2 patients patient NNS cord-014712-5u4e00q6 1835 3 and and CC cord-014712-5u4e00q6 1835 4 healthy healthy JJ cord-014712-5u4e00q6 1835 5 controls control NNS cord-014712-5u4e00q6 1835 6 were be VBD cord-014712-5u4e00q6 1835 7 grouped group VBN cord-014712-5u4e00q6 1835 8 as as IN cord-014712-5u4e00q6 1835 9 0 0 CD cord-014712-5u4e00q6 1835 10 - - SYM cord-014712-5u4e00q6 1835 11 5 5 CD cord-014712-5u4e00q6 1835 12 , , , cord-014712-5u4e00q6 1835 13 6 6 CD cord-014712-5u4e00q6 1835 14 - - SYM cord-014712-5u4e00q6 1835 15 10 10 CD cord-014712-5u4e00q6 1835 16 , , , cord-014712-5u4e00q6 1835 17 7 7 CD cord-014712-5u4e00q6 1835 18 - - SYM cord-014712-5u4e00q6 1835 19 15 15 CD cord-014712-5u4e00q6 1835 20 years year NNS cord-014712-5u4e00q6 1835 21 and and CC cord-014712-5u4e00q6 1835 22 older old JJR cord-014712-5u4e00q6 1835 23 than than IN cord-014712-5u4e00q6 1835 24 16 16 CD cord-014712-5u4e00q6 1835 25 years year NNS cord-014712-5u4e00q6 1835 26 . . . cord-014712-5u4e00q6 1836 1 Using use VBG cord-014712-5u4e00q6 1836 2 flow flow NN cord-014712-5u4e00q6 1836 3 cytometer cytometer NN cord-014712-5u4e00q6 1836 4 , , , cord-014712-5u4e00q6 1836 5 major major JJ cord-014712-5u4e00q6 1836 6 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1836 7 subpopulations subpopulation NNS cord-014712-5u4e00q6 1836 8 and and CC cord-014712-5u4e00q6 1836 9 CD4 CD4 NNP cord-014712-5u4e00q6 1836 10 + + CC cord-014712-5u4e00q6 1836 11 CD45RA CD45RA NNP cord-014712-5u4e00q6 1836 12 + + CC cord-014712-5u4e00q6 1836 13 CD31 CD31 NNP cord-014712-5u4e00q6 1836 14 + + CC cord-014712-5u4e00q6 1836 15 recent recent JJ cord-014712-5u4e00q6 1836 16 thymic thymic JJ cord-014712-5u4e00q6 1836 17 emigrants emigrant NNS cord-014712-5u4e00q6 1836 18 ( ( -LRB- cord-014712-5u4e00q6 1836 19 RTE RTE NNP cord-014712-5u4e00q6 1836 20 ) ) -RRB- cord-014712-5u4e00q6 1836 21 were be VBD cord-014712-5u4e00q6 1836 22 determined determine VBN cord-014712-5u4e00q6 1836 23 as as IN cord-014712-5u4e00q6 1836 24 per per IN cord-014712-5u4e00q6 1836 25 cent cent NN cord-014712-5u4e00q6 1836 26 and and CC cord-014712-5u4e00q6 1836 27 absolute absolute JJ cord-014712-5u4e00q6 1836 28 cell cell NN cord-014712-5u4e00q6 1836 29 numbers number NNS cord-014712-5u4e00q6 1836 30 and and CC cord-014712-5u4e00q6 1836 31 compared compare VBN cord-014712-5u4e00q6 1836 32 . . . cord-014712-5u4e00q6 1837 1 No no DT cord-014712-5u4e00q6 1837 2 significant significant JJ cord-014712-5u4e00q6 1837 3 differences difference NNS cord-014712-5u4e00q6 1837 4 regarding regard VBG cord-014712-5u4e00q6 1837 5 all all DT cord-014712-5u4e00q6 1837 6 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1837 7 subpopulations subpopulation NNS cord-014712-5u4e00q6 1837 8 were be VBD cord-014712-5u4e00q6 1837 9 observed observe VBN cord-014712-5u4e00q6 1837 10 between between IN cord-014712-5u4e00q6 1837 11 age age NN cord-014712-5u4e00q6 1837 12 groups group NNS cord-014712-5u4e00q6 1837 13 of of IN cord-014712-5u4e00q6 1838 1 A a LS cord-014712-5u4e00q6 1838 2 - - HYPH cord-014712-5u4e00q6 1838 3 T. t. NN cord-014712-5u4e00q6 1838 4 Comparing comparing NN cord-014712-5u4e00q6 1838 5 to to IN cord-014712-5u4e00q6 1838 6 the the DT cord-014712-5u4e00q6 1838 7 healthy healthy JJ cord-014712-5u4e00q6 1838 8 controls control NNS cord-014712-5u4e00q6 1838 9 , , , cord-014712-5u4e00q6 1838 10 there there EX cord-014712-5u4e00q6 1838 11 were be VBD cord-014712-5u4e00q6 1838 12 a a DT cord-014712-5u4e00q6 1838 13 decrease decrease NN cord-014712-5u4e00q6 1838 14 ( ( -LRB- cord-014712-5u4e00q6 1838 15 in in IN cord-014712-5u4e00q6 1838 16 T t NN cord-014712-5u4e00q6 1838 17 cells cell NNS cord-014712-5u4e00q6 1838 18 , , , cord-014712-5u4e00q6 1838 19 effector effector JJ cord-014712-5u4e00q6 1838 20 memory memory NN cord-014712-5u4e00q6 1838 21 T4 T4 NNP cord-014712-5u4e00q6 1838 22 cells cell NNS cord-014712-5u4e00q6 1838 23 , , , cord-014712-5u4e00q6 1838 24 B b NN cord-014712-5u4e00q6 1838 25 cells cell NNS cord-014712-5u4e00q6 1838 26 , , , cord-014712-5u4e00q6 1838 27 naïve naïve JJ cord-014712-5u4e00q6 1838 28 B B NNP cord-014712-5u4e00q6 1838 29 cells cell NNS cord-014712-5u4e00q6 1838 30 , , , cord-014712-5u4e00q6 1838 31 switched switch VBD cord-014712-5u4e00q6 1838 32 B b NN cord-014712-5u4e00q6 1838 33 cells cell NNS cord-014712-5u4e00q6 1838 34 and and CC cord-014712-5u4e00q6 1838 35 RTE RTE NNP cord-014712-5u4e00q6 1838 36 ) ) -RRB- cord-014712-5u4e00q6 1838 37 and and CC cord-014712-5u4e00q6 1838 38 there there EX cord-014712-5u4e00q6 1838 39 were be VBD cord-014712-5u4e00q6 1838 40 an an DT cord-014712-5u4e00q6 1838 41 increase increase NN cord-014712-5u4e00q6 1838 42 ( ( -LRB- cord-014712-5u4e00q6 1838 43 in in IN cord-014712-5u4e00q6 1838 44 active active JJ cord-014712-5u4e00q6 1838 45 T8 T8 NNP cord-014712-5u4e00q6 1838 46 cells cell NNS cord-014712-5u4e00q6 1838 47 , , , cord-014712-5u4e00q6 1838 48 naïve naïve JJ cord-014712-5u4e00q6 1838 49 T4 T4 NNP cord-014712-5u4e00q6 1838 50 cells cell NNS cord-014712-5u4e00q6 1838 51 and and CC cord-014712-5u4e00q6 1838 52 nonswitched nonswitche VBN cord-014712-5u4e00q6 1838 53 B b NN cord-014712-5u4e00q6 1838 54 cells cell NNS cord-014712-5u4e00q6 1838 55 ) ) -RRB- cord-014712-5u4e00q6 1838 56 in in IN cord-014712-5u4e00q6 1838 57 the the DT cord-014712-5u4e00q6 1838 58 absolute absolute JJ cord-014712-5u4e00q6 1838 59 number number NN cord-014712-5u4e00q6 1838 60 and and CC cord-014712-5u4e00q6 1838 61 percent percent NN cord-014712-5u4e00q6 1838 62 of of IN cord-014712-5u4e00q6 1838 63 some some DT cord-014712-5u4e00q6 1838 64 cell cell NN cord-014712-5u4e00q6 1838 65 populations population NNS cord-014712-5u4e00q6 1838 66 in in IN cord-014712-5u4e00q6 1838 67 the the DT cord-014712-5u4e00q6 1838 68 A A NNP cord-014712-5u4e00q6 1838 69 - - HYPH cord-014712-5u4e00q6 1838 70 T t NN cord-014712-5u4e00q6 1838 71 group group NN cord-014712-5u4e00q6 1838 72 . . . cord-014712-5u4e00q6 1839 1 Findings finding NNS cord-014712-5u4e00q6 1839 2 of of IN cord-014712-5u4e00q6 1839 3 this this DT cord-014712-5u4e00q6 1839 4 study study NN cord-014712-5u4e00q6 1839 5 showed show VBD cord-014712-5u4e00q6 1839 6 effector effector JJ cord-014712-5u4e00q6 1839 7 functions function NNS cord-014712-5u4e00q6 1839 8 in in IN cord-014712-5u4e00q6 1839 9 some some DT cord-014712-5u4e00q6 1839 10 cell cell NN cord-014712-5u4e00q6 1839 11 lymphocyte lymphocyte NN cord-014712-5u4e00q6 1839 12 populations population NNS cord-014712-5u4e00q6 1839 13 were be VBD cord-014712-5u4e00q6 1839 14 decreased decrease VBN cord-014712-5u4e00q6 1839 15 and and CC cord-014712-5u4e00q6 1839 16 could could MD cord-014712-5u4e00q6 1839 17 be be VB cord-014712-5u4e00q6 1839 18 thought think VBN cord-014712-5u4e00q6 1839 19 that that IN cord-014712-5u4e00q6 1839 20 bone bone NN cord-014712-5u4e00q6 1839 21 marrow marrow NN cord-014712-5u4e00q6 1839 22 of of IN cord-014712-5u4e00q6 1839 23 patients patient NNS cord-014712-5u4e00q6 1839 24 should should MD cord-014712-5u4e00q6 1839 25 be be VB cord-014712-5u4e00q6 1839 26 tried try VBN cord-014712-5u4e00q6 1839 27 to to TO cord-014712-5u4e00q6 1839 28 increase increase VB cord-014712-5u4e00q6 1839 29 the the DT cord-014712-5u4e00q6 1839 30 cells cell NNS cord-014712-5u4e00q6 1839 31 numbers number NNS cord-014712-5u4e00q6 1839 32 . . . cord-014712-5u4e00q6 1840 1 However however RB cord-014712-5u4e00q6 1840 2 , , , cord-014712-5u4e00q6 1840 3 the the DT cord-014712-5u4e00q6 1840 4 study study NN cord-014712-5u4e00q6 1840 5 has have VBZ cord-014712-5u4e00q6 1840 6 an an DT cord-014712-5u4e00q6 1840 7 important important JJ cord-014712-5u4e00q6 1840 8 limitation limitation NN cord-014712-5u4e00q6 1840 9 about about IN cord-014712-5u4e00q6 1840 10 patient patient JJ cord-014712-5u4e00q6 1840 11 and and CC cord-014712-5u4e00q6 1840 12 healthy healthy JJ cord-014712-5u4e00q6 1840 13 population population NN cord-014712-5u4e00q6 1840 14 . . . cord-014712-5u4e00q6 1841 1 Ataxia ataxia NN cord-014712-5u4e00q6 1841 2 - - HYPH cord-014712-5u4e00q6 1841 3 telangiectasia telangiectasia NN cord-014712-5u4e00q6 1841 4 ( ( -LRB- cord-014712-5u4e00q6 1841 5 A A NNP cord-014712-5u4e00q6 1841 6 - - HYPH cord-014712-5u4e00q6 1841 7 T T NNP cord-014712-5u4e00q6 1841 8 ) ) -RRB- cord-014712-5u4e00q6 1841 9 results result VBZ cord-014712-5u4e00q6 1841 10 from from IN cord-014712-5u4e00q6 1841 11 the the DT cord-014712-5u4e00q6 1841 12 loss loss NN cord-014712-5u4e00q6 1841 13 of of IN cord-014712-5u4e00q6 1841 14 ataxia ataxia NN cord-014712-5u4e00q6 1841 15 - - HYPH cord-014712-5u4e00q6 1841 16 telangiectasia telangiectasia NN cord-014712-5u4e00q6 1841 17 mutated mutate VBN cord-014712-5u4e00q6 1841 18 gene gene NN cord-014712-5u4e00q6 1841 19 ( ( -LRB- cord-014712-5u4e00q6 1841 20 ATM ATM NNP cord-014712-5u4e00q6 1841 21 ) ) -RRB- cord-014712-5u4e00q6 1841 22 function function NN cord-014712-5u4e00q6 1841 23 and and CC cord-014712-5u4e00q6 1841 24 is be VBZ cord-014712-5u4e00q6 1841 25 a a DT cord-014712-5u4e00q6 1841 26 heterogeneous heterogeneous JJ cord-014712-5u4e00q6 1841 27 , , , cord-014712-5u4e00q6 1841 28 multisystemic multisystemic JJ cord-014712-5u4e00q6 1841 29 disease disease NN cord-014712-5u4e00q6 1841 30 and and CC cord-014712-5u4e00q6 1841 31 characterized characterize VBN cord-014712-5u4e00q6 1841 32 by by IN cord-014712-5u4e00q6 1841 33 accelerated accelerated JJ cord-014712-5u4e00q6 1841 34 telomere telomere NN cord-014712-5u4e00q6 1841 35 loss loss NN cord-014712-5u4e00q6 1841 36 , , , cord-014712-5u4e00q6 1841 37 genomic genomic JJ cord-014712-5u4e00q6 1841 38 instability instability NN cord-014712-5u4e00q6 1841 39 , , , cord-014712-5u4e00q6 1841 40 progressive progressive JJ cord-014712-5u4e00q6 1841 41 neurological neurological JJ cord-014712-5u4e00q6 1841 42 degeneration degeneration NN cord-014712-5u4e00q6 1841 43 , , , cord-014712-5u4e00q6 1841 44 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1841 45 , , , cord-014712-5u4e00q6 1841 46 premature premature JJ cord-014712-5u4e00q6 1841 47 ageing ageing NN cord-014712-5u4e00q6 1841 48 and and CC cord-014712-5u4e00q6 1841 49 increased increase VBN cord-014712-5u4e00q6 1841 50 neoplasia neoplasia NN cord-014712-5u4e00q6 1841 51 incidence incidence NN cord-014712-5u4e00q6 1841 52 . . . cord-014712-5u4e00q6 1842 1 Even even RB cord-014712-5u4e00q6 1842 2 in in IN cord-014712-5u4e00q6 1842 3 classic classic JJ cord-014712-5u4e00q6 1842 4 A A NNP cord-014712-5u4e00q6 1842 5 - - HYPH cord-014712-5u4e00q6 1842 6 T t NN cord-014712-5u4e00q6 1842 7 with with IN cord-014712-5u4e00q6 1842 8 ataxia ataxia NN cord-014712-5u4e00q6 1842 9 and and CC cord-014712-5u4e00q6 1842 10 telangiectasia telangiectasia NN cord-014712-5u4e00q6 1842 11 , , , cord-014712-5u4e00q6 1842 12 the the DT cord-014712-5u4e00q6 1842 13 onset onset NN cord-014712-5u4e00q6 1842 14 of of IN cord-014712-5u4e00q6 1842 15 clinical clinical JJ cord-014712-5u4e00q6 1842 16 symptoms symptom NNS cord-014712-5u4e00q6 1842 17 and and CC cord-014712-5u4e00q6 1842 18 the the DT cord-014712-5u4e00q6 1842 19 rate rate NN cord-014712-5u4e00q6 1842 20 of of IN cord-014712-5u4e00q6 1842 21 progression progression NN cord-014712-5u4e00q6 1842 22 are be VBP cord-014712-5u4e00q6 1842 23 variable variable JJ cord-014712-5u4e00q6 1842 24 . . . cord-014712-5u4e00q6 1843 1 Here here RB cord-014712-5u4e00q6 1843 2 , , , cord-014712-5u4e00q6 1843 3 we -PRON- PRP cord-014712-5u4e00q6 1843 4 report report VBP cord-014712-5u4e00q6 1843 5 two two CD cord-014712-5u4e00q6 1843 6 siblings sibling NNS cord-014712-5u4e00q6 1843 7 was be VBD cord-014712-5u4e00q6 1843 8 diagnosed diagnose VBN cord-014712-5u4e00q6 1843 9 as as IN cord-014712-5u4e00q6 1843 10 A A NNP cord-014712-5u4e00q6 1843 11 - - HYPH cord-014712-5u4e00q6 1843 12 T t NN cord-014712-5u4e00q6 1843 13 with with IN cord-014712-5u4e00q6 1843 14 severe severe JJ cord-014712-5u4e00q6 1843 15 and and CC cord-014712-5u4e00q6 1843 16 early early JJ cord-014712-5u4e00q6 1843 17 hypogamaglobulinemia hypogamaglobulinemia NN cord-014712-5u4e00q6 1843 18 , , , cord-014712-5u4e00q6 1843 19 decreased decrease VBD cord-014712-5u4e00q6 1843 20 CD19 CD19 NNP cord-014712-5u4e00q6 1843 21 , , , cord-014712-5u4e00q6 1843 22 increased increase VBD cord-014712-5u4e00q6 1843 23 CD45RO CD45RO NNP cord-014712-5u4e00q6 1843 24 , , , cord-014712-5u4e00q6 1843 25 no no DT cord-014712-5u4e00q6 1843 26 ataxia ataxia NN cord-014712-5u4e00q6 1843 27 and and CC cord-014712-5u4e00q6 1843 28 telangiectasia telangiectasia NN cord-014712-5u4e00q6 1843 29 , , , cord-014712-5u4e00q6 1843 30 purulent purulent JJ cord-014712-5u4e00q6 1843 31 otitis otitis NN cord-014712-5u4e00q6 1843 32 and and CC cord-014712-5u4e00q6 1843 33 hemophagocytosis hemophagocytosis NN cord-014712-5u4e00q6 1843 34 that that WDT cord-014712-5u4e00q6 1843 35 harbor harbor VBP cord-014712-5u4e00q6 1843 36 a a DT cord-014712-5u4e00q6 1843 37 rare rare JJ cord-014712-5u4e00q6 1843 38 frameshift frameshift NN cord-014712-5u4e00q6 1843 39 mutation mutation NN cord-014712-5u4e00q6 1843 40 of of IN cord-014712-5u4e00q6 1843 41 ATM atm NN cord-014712-5u4e00q6 1843 42 gene gene NN cord-014712-5u4e00q6 1843 43 . . . cord-014712-5u4e00q6 1844 1 Nijmegen Nijmegen NNP cord-014712-5u4e00q6 1844 2 breakage breakage NN cord-014712-5u4e00q6 1844 3 syndrome(NBS syndrome(NBS NNP cord-014712-5u4e00q6 1844 4 ) ) -RRB- cord-014712-5u4e00q6 1844 5 is be VBZ cord-014712-5u4e00q6 1844 6 a a DT cord-014712-5u4e00q6 1844 7 rare rare JJ cord-014712-5u4e00q6 1844 8 autosomal autosomal JJ cord-014712-5u4e00q6 1844 9 recessive recessive JJ cord-014712-5u4e00q6 1844 10 disease disease NN cord-014712-5u4e00q6 1844 11 usually usually RB cord-014712-5u4e00q6 1844 12 presenting present VBG cord-014712-5u4e00q6 1844 13 at at IN cord-014712-5u4e00q6 1844 14 birth birth NN cord-014712-5u4e00q6 1844 15 with with IN cord-014712-5u4e00q6 1844 16 microcephaly microcephaly NNS cord-014712-5u4e00q6 1844 17 . . . cord-014712-5u4e00q6 1845 1 Here here RB cord-014712-5u4e00q6 1845 2 we -PRON- PRP cord-014712-5u4e00q6 1845 3 present present VBP cord-014712-5u4e00q6 1845 4 a a DT cord-014712-5u4e00q6 1845 5 case case NN cord-014712-5u4e00q6 1845 6 of of IN cord-014712-5u4e00q6 1845 7 NBS NBS NNP cord-014712-5u4e00q6 1845 8 diagnosed diagnose VBN cord-014712-5u4e00q6 1845 9 at at IN cord-014712-5u4e00q6 1845 10 the the DT cord-014712-5u4e00q6 1845 11 age age NN cord-014712-5u4e00q6 1845 12 of of IN cord-014712-5u4e00q6 1845 13 twenty twenty CD cord-014712-5u4e00q6 1845 14 seven seven CD cord-014712-5u4e00q6 1845 15 who who WP cord-014712-5u4e00q6 1845 16 admitted admit VBD cord-014712-5u4e00q6 1845 17 to to IN cord-014712-5u4e00q6 1845 18 our -PRON- PRP$ cord-014712-5u4e00q6 1845 19 outpatient outpatient NN cord-014712-5u4e00q6 1845 20 clinic clinic NN cord-014712-5u4e00q6 1845 21 with with IN cord-014712-5u4e00q6 1845 22 malaise malaise NN cord-014712-5u4e00q6 1845 23 , , , cord-014712-5u4e00q6 1845 24 loss loss NN cord-014712-5u4e00q6 1845 25 of of IN cord-014712-5u4e00q6 1845 26 appetite appetite NN cord-014712-5u4e00q6 1845 27 , , , cord-014712-5u4e00q6 1845 28 weight weight NN cord-014712-5u4e00q6 1845 29 loss loss NN cord-014712-5u4e00q6 1845 30 and and CC cord-014712-5u4e00q6 1845 31 dyspnea dyspnea NN cord-014712-5u4e00q6 1845 32 on on IN cord-014712-5u4e00q6 1845 33 effort effort NN cord-014712-5u4e00q6 1845 34 . . . cord-014712-5u4e00q6 1846 1 She -PRON- PRP cord-014712-5u4e00q6 1846 2 was be VBD cord-014712-5u4e00q6 1846 3 hospitalized hospitalize VBN cord-014712-5u4e00q6 1846 4 in in IN cord-014712-5u4e00q6 1846 5 another another DT cord-014712-5u4e00q6 1846 6 centre centre NN cord-014712-5u4e00q6 1846 7 2 2 CD cord-014712-5u4e00q6 1846 8 years year NNS cord-014712-5u4e00q6 1846 9 before before IN cord-014712-5u4e00q6 1846 10 because because IN cord-014712-5u4e00q6 1846 11 of of IN cord-014712-5u4e00q6 1846 12 pneumonia pneumonia NN cord-014712-5u4e00q6 1846 13 , , , cord-014712-5u4e00q6 1846 14 pancytopenia pancytopenia NNP cord-014712-5u4e00q6 1846 15 , , , cord-014712-5u4e00q6 1846 16 generalized generalize VBN cord-014712-5u4e00q6 1846 17 lymphadenopathy lymphadenopathy NNP cord-014712-5u4e00q6 1846 18 , , , cord-014712-5u4e00q6 1846 19 hepatosplenomegaly hepatosplenomegaly NNP cord-014712-5u4e00q6 1846 20 and and CC cord-014712-5u4e00q6 1846 21 hypogammaglobulinemia hypogammaglobulinemia NNP cord-014712-5u4e00q6 1846 22 ( ( -LRB- cord-014712-5u4e00q6 1846 23 very very RB cord-014712-5u4e00q6 1846 24 low low JJ cord-014712-5u4e00q6 1846 25 IgG IgG NNP cord-014712-5u4e00q6 1846 26 and and CC cord-014712-5u4e00q6 1846 27 IgA IgA NNP cord-014712-5u4e00q6 1846 28 ) ) -RRB- cord-014712-5u4e00q6 1846 29 where where WRB cord-014712-5u4e00q6 1846 30 she -PRON- PRP cord-014712-5u4e00q6 1846 31 could could MD cord-014712-5u4e00q6 1846 32 n't not RB cord-014712-5u4e00q6 1846 33 have have VB cord-014712-5u4e00q6 1846 34 any any DT cord-014712-5u4e00q6 1846 35 definite definite JJ cord-014712-5u4e00q6 1846 36 diagnosis diagnosis NN cord-014712-5u4e00q6 1846 37 . . . cord-014712-5u4e00q6 1847 1 Her -PRON- PRP$ cord-014712-5u4e00q6 1847 2 past past JJ cord-014712-5u4e00q6 1847 3 medical medical JJ cord-014712-5u4e00q6 1847 4 history history NN cord-014712-5u4e00q6 1847 5 was be VBD cord-014712-5u4e00q6 1847 6 remarkable remarkable JJ cord-014712-5u4e00q6 1847 7 for for IN cord-014712-5u4e00q6 1847 8 primary primary JJ cord-014712-5u4e00q6 1847 9 amenorrhea amenorrhea NN cord-014712-5u4e00q6 1847 10 and and CC cord-014712-5u4e00q6 1847 11 basal basal NN cord-014712-5u4e00q6 1847 12 cell cell NN cord-014712-5u4e00q6 1847 13 carcinoma carcinoma NN cord-014712-5u4e00q6 1847 14 excision excision NN cord-014712-5u4e00q6 1847 15 from from IN cord-014712-5u4e00q6 1847 16 preaericular preaericular JJ cord-014712-5u4e00q6 1847 17 region region NN cord-014712-5u4e00q6 1847 18 when when WRB cord-014712-5u4e00q6 1847 19 she -PRON- PRP cord-014712-5u4e00q6 1847 20 was be VBD cord-014712-5u4e00q6 1847 21 23 23 CD cord-014712-5u4e00q6 1847 22 . . . cord-014712-5u4e00q6 1848 1 She -PRON- PRP cord-014712-5u4e00q6 1848 2 had have VBD cord-014712-5u4e00q6 1848 3 no no DT cord-014712-5u4e00q6 1848 4 severe severe JJ cord-014712-5u4e00q6 1848 5 infection infection NN cord-014712-5u4e00q6 1848 6 history history NN cord-014712-5u4e00q6 1848 7 before before IN cord-014712-5u4e00q6 1848 8 25 25 CD cord-014712-5u4e00q6 1848 9 except except IN cord-014712-5u4e00q6 1848 10 frequent frequent JJ cord-014712-5u4e00q6 1848 11 upper upper JJ cord-014712-5u4e00q6 1848 12 respiratory respiratory JJ cord-014712-5u4e00q6 1848 13 tract tract NN cord-014712-5u4e00q6 1848 14 infections infection NNS cord-014712-5u4e00q6 1848 15 . . . cord-014712-5u4e00q6 1849 1 Her -PRON- PRP$ cord-014712-5u4e00q6 1849 2 parents parent NNS cord-014712-5u4e00q6 1849 3 were be VBD cord-014712-5u4e00q6 1849 4 consanginous consanginous JJ cord-014712-5u4e00q6 1849 5 and and CC cord-014712-5u4e00q6 1849 6 she -PRON- PRP cord-014712-5u4e00q6 1849 7 had have VBD cord-014712-5u4e00q6 1849 8 a a DT cord-014712-5u4e00q6 1849 9 brother brother NN cord-014712-5u4e00q6 1849 10 died die VBD cord-014712-5u4e00q6 1849 11 at at IN cord-014712-5u4e00q6 1849 12 6 6 CD cord-014712-5u4e00q6 1849 13 months month NNS cord-014712-5u4e00q6 1849 14 of of IN cord-014712-5u4e00q6 1849 15 age age NN cord-014712-5u4e00q6 1849 16 . . . cord-014712-5u4e00q6 1850 1 Microcephaly Microcephaly NNP cord-014712-5u4e00q6 1850 2 together together RB cord-014712-5u4e00q6 1850 3 with with IN cord-014712-5u4e00q6 1850 4 short short JJ cord-014712-5u4e00q6 1850 5 stature stature NN cord-014712-5u4e00q6 1850 6 , , , cord-014712-5u4e00q6 1850 7 multiple multiple JJ cord-014712-5u4e00q6 1850 8 palpable palpable JJ cord-014712-5u4e00q6 1850 9 lymphadenopathies lymphadenopathy NNS cord-014712-5u4e00q6 1850 10 , , , cord-014712-5u4e00q6 1850 11 splenomegaly splenomegaly NN cord-014712-5u4e00q6 1850 12 and and CC cord-014712-5u4e00q6 1850 13 absent absent JJ cord-014712-5u4e00q6 1850 14 secondary secondary JJ cord-014712-5u4e00q6 1850 15 sexual sexual JJ cord-014712-5u4e00q6 1850 16 characteristics characteristic NNS cord-014712-5u4e00q6 1850 17 were be VBD cord-014712-5u4e00q6 1850 18 prominent prominent JJ cord-014712-5u4e00q6 1850 19 features feature NNS cord-014712-5u4e00q6 1850 20 in in IN cord-014712-5u4e00q6 1850 21 physical physical JJ cord-014712-5u4e00q6 1850 22 examination examination NN cord-014712-5u4e00q6 1850 23 . . . cord-014712-5u4e00q6 1851 1 Direct direct JJ cord-014712-5u4e00q6 1851 2 fluorescence fluorescence NN cord-014712-5u4e00q6 1851 3 sequencing sequencing NN cord-014712-5u4e00q6 1851 4 of of IN cord-014712-5u4e00q6 1851 5 the the DT cord-014712-5u4e00q6 1851 6 NBN NBN NNP cord-014712-5u4e00q6 1851 7 gene gene NN cord-014712-5u4e00q6 1851 8 showed show VBD cord-014712-5u4e00q6 1851 9 a a DT cord-014712-5u4e00q6 1851 10 homozygous homozygous JJ cord-014712-5u4e00q6 1851 11 mutation mutation NN cord-014712-5u4e00q6 1851 12 in in IN cord-014712-5u4e00q6 1851 13 exon exon NN cord-014712-5u4e00q6 1851 14 6 6 CD cord-014712-5u4e00q6 1851 15 ( ( -LRB- cord-014712-5u4e00q6 1851 16 c.657_661delACAAA c.657_661delACAAA NNP cord-014712-5u4e00q6 1851 17 ) ) -RRB- cord-014712-5u4e00q6 1851 18 which which WDT cord-014712-5u4e00q6 1851 19 confirmed confirm VBD cord-014712-5u4e00q6 1851 20 the the DT cord-014712-5u4e00q6 1851 21 diagnosis diagnosis NN cord-014712-5u4e00q6 1851 22 of of IN cord-014712-5u4e00q6 1851 23 NBS NBS NNP cord-014712-5u4e00q6 1851 24 in in IN cord-014712-5u4e00q6 1851 25 our -PRON- PRP$ cord-014712-5u4e00q6 1851 26 patient patient NN cord-014712-5u4e00q6 1851 27 . . . cord-014712-5u4e00q6 1852 1 NBS NBS NNP cord-014712-5u4e00q6 1852 2 is be VBZ cord-014712-5u4e00q6 1852 3 mostly mostly RB cord-014712-5u4e00q6 1852 4 diagnosed diagnose VBN cord-014712-5u4e00q6 1852 5 in in IN cord-014712-5u4e00q6 1852 6 childhood childhood NN cord-014712-5u4e00q6 1852 7 . . . cord-014712-5u4e00q6 1853 1 The the DT cord-014712-5u4e00q6 1853 2 delay delay NN cord-014712-5u4e00q6 1853 3 in in IN cord-014712-5u4e00q6 1853 4 diagnosis diagnosis NN cord-014712-5u4e00q6 1853 5 was be VBD cord-014712-5u4e00q6 1853 6 partly partly RB cord-014712-5u4e00q6 1853 7 due due JJ cord-014712-5u4e00q6 1853 8 to to IN cord-014712-5u4e00q6 1853 9 the the DT cord-014712-5u4e00q6 1853 10 lack lack NN cord-014712-5u4e00q6 1853 11 of of IN cord-014712-5u4e00q6 1853 12 severe severe JJ cord-014712-5u4e00q6 1853 13 infections infection NNS cord-014712-5u4e00q6 1853 14 in in IN cord-014712-5u4e00q6 1853 15 her -PRON- PRP$ cord-014712-5u4e00q6 1853 16 past past JJ cord-014712-5u4e00q6 1853 17 medical medical JJ cord-014712-5u4e00q6 1853 18 history history NN cord-014712-5u4e00q6 1853 19 until until IN cord-014712-5u4e00q6 1853 20 she -PRON- PRP cord-014712-5u4e00q6 1853 21 was be VBD cord-014712-5u4e00q6 1853 22 25 25 CD cord-014712-5u4e00q6 1853 23 . . . cord-014712-5u4e00q6 1854 1 Another another DT cord-014712-5u4e00q6 1854 2 factor factor NN cord-014712-5u4e00q6 1854 3 that that WDT cord-014712-5u4e00q6 1854 4 lead lead VBP cord-014712-5u4e00q6 1854 5 to to IN cord-014712-5u4e00q6 1854 6 the the DT cord-014712-5u4e00q6 1854 7 delay delay NN cord-014712-5u4e00q6 1854 8 is be VBZ cord-014712-5u4e00q6 1854 9 that that IN cord-014712-5u4e00q6 1854 10 it -PRON- PRP cord-014712-5u4e00q6 1854 11 is be VBZ cord-014712-5u4e00q6 1854 12 an an DT cord-014712-5u4e00q6 1854 13 unknown unknown JJ cord-014712-5u4e00q6 1854 14 disease disease NN cord-014712-5u4e00q6 1854 15 among among IN cord-014712-5u4e00q6 1854 16 physicians physician NNS cord-014712-5u4e00q6 1854 17 in in IN cord-014712-5u4e00q6 1854 18 Turkey Turkey NNP cord-014712-5u4e00q6 1854 19 . . . cord-014712-5u4e00q6 1855 1 The the DT cord-014712-5u4e00q6 1855 2 longest long RBS cord-014712-5u4e00q6 1855 3 known know VBN cord-014712-5u4e00q6 1855 4 survival survival NN cord-014712-5u4e00q6 1855 5 is be VBZ cord-014712-5u4e00q6 1855 6 53 53 CD cord-014712-5u4e00q6 1855 7 years year NNS cord-014712-5u4e00q6 1855 8 in in IN cord-014712-5u4e00q6 1855 9 a a DT cord-014712-5u4e00q6 1855 10 patient patient NN cord-014712-5u4e00q6 1855 11 who who WP cord-014712-5u4e00q6 1855 12 had have VBD cord-014712-5u4e00q6 1855 13 no no DT cord-014712-5u4e00q6 1855 14 clinical clinical JJ cord-014712-5u4e00q6 1855 15 features feature NNS cord-014712-5u4e00q6 1855 16 of of IN cord-014712-5u4e00q6 1855 17 NBS NBS NNP cord-014712-5u4e00q6 1855 18 other other JJ cord-014712-5u4e00q6 1855 19 than than IN cord-014712-5u4e00q6 1855 20 primary primary JJ cord-014712-5u4e00q6 1855 21 amenorrhea amenorrhea NN cord-014712-5u4e00q6 1855 22 . . . cord-014712-5u4e00q6 1856 1 As as IN cord-014712-5u4e00q6 1856 2 a a DT cord-014712-5u4e00q6 1856 3 result result NN cord-014712-5u4e00q6 1856 4 , , , cord-014712-5u4e00q6 1856 5 our -PRON- PRP$ cord-014712-5u4e00q6 1856 6 patient patient NN cord-014712-5u4e00q6 1856 7 is be VBZ cord-014712-5u4e00q6 1856 8 one one CD cord-014712-5u4e00q6 1856 9 of of IN cord-014712-5u4e00q6 1856 10 the the DT cord-014712-5u4e00q6 1856 11 oldest old JJS cord-014712-5u4e00q6 1856 12 patients patient NNS cord-014712-5u4e00q6 1856 13 reported report VBN cord-014712-5u4e00q6 1856 14 in in IN cord-014712-5u4e00q6 1856 15 the the DT cord-014712-5u4e00q6 1856 16 literature literature NN cord-014712-5u4e00q6 1856 17 presenting present VBG cord-014712-5u4e00q6 1856 18 nearly nearly RB cord-014712-5u4e00q6 1856 19 all all DT cord-014712-5u4e00q6 1856 20 of of IN cord-014712-5u4e00q6 1856 21 the the DT cord-014712-5u4e00q6 1856 22 classical classical JJ cord-014712-5u4e00q6 1856 23 features feature NNS cord-014712-5u4e00q6 1856 24 of of IN cord-014712-5u4e00q6 1856 25 the the DT cord-014712-5u4e00q6 1856 26 disease disease NN cord-014712-5u4e00q6 1856 27 and and CC cord-014712-5u4e00q6 1856 28 carrying carry VBG cord-014712-5u4e00q6 1856 29 the the DT cord-014712-5u4e00q6 1856 30 most most RBS cord-014712-5u4e00q6 1856 31 common common JJ cord-014712-5u4e00q6 1856 32 pathologic pathologic JJ cord-014712-5u4e00q6 1856 33 mutation mutation NN cord-014712-5u4e00q6 1856 34 . . . cord-014712-5u4e00q6 1857 1 Wiscott Wiscott NNP cord-014712-5u4e00q6 1857 2 - - HYPH cord-014712-5u4e00q6 1857 3 Aldrich Aldrich NNP cord-014712-5u4e00q6 1857 4 syndrome syndrome NN cord-014712-5u4e00q6 1857 5 ( ( -LRB- cord-014712-5u4e00q6 1857 6 WAS be VBD cord-014712-5u4e00q6 1857 7 ) ) -RRB- cord-014712-5u4e00q6 1857 8 is be VBZ cord-014712-5u4e00q6 1857 9 a a DT cord-014712-5u4e00q6 1857 10 rare rare JJ cord-014712-5u4e00q6 1857 11 X x NN cord-014712-5u4e00q6 1857 12 - - HYPH cord-014712-5u4e00q6 1857 13 linked link VBN cord-014712-5u4e00q6 1857 14 recessive recessive JJ cord-014712-5u4e00q6 1857 15 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1857 16 disorder disorder NN cord-014712-5u4e00q6 1857 17 characterized characterize VBN cord-014712-5u4e00q6 1857 18 by by IN cord-014712-5u4e00q6 1857 19 thrombocytopenia thrombocytopenia NN cord-014712-5u4e00q6 1857 20 , , , cord-014712-5u4e00q6 1857 21 small small JJ cord-014712-5u4e00q6 1857 22 platelets platelet NNS cord-014712-5u4e00q6 1857 23 , , , cord-014712-5u4e00q6 1857 24 eczama eczama NNP cord-014712-5u4e00q6 1857 25 , , , cord-014712-5u4e00q6 1857 26 recurrent recurrent JJ cord-014712-5u4e00q6 1857 27 infections infection NNS cord-014712-5u4e00q6 1857 28 and and CC cord-014712-5u4e00q6 1857 29 an an DT cord-014712-5u4e00q6 1857 30 increased increase VBN cord-014712-5u4e00q6 1857 31 risk risk NN cord-014712-5u4e00q6 1857 32 of of IN cord-014712-5u4e00q6 1857 33 autoimunity autoimunity NN cord-014712-5u4e00q6 1857 34 and and CC cord-014712-5u4e00q6 1857 35 malignancy malignancy NN cord-014712-5u4e00q6 1857 36 . . . cord-014712-5u4e00q6 1858 1 The the DT cord-014712-5u4e00q6 1858 2 gene gene NN cord-014712-5u4e00q6 1858 3 responsible responsible JJ cord-014712-5u4e00q6 1858 4 for for IN cord-014712-5u4e00q6 1858 5 WAS be VBD cord-014712-5u4e00q6 1858 6 is be VBZ cord-014712-5u4e00q6 1858 7 located locate VBN cord-014712-5u4e00q6 1858 8 in in IN cord-014712-5u4e00q6 1858 9 chromosome chromosome NN cord-014712-5u4e00q6 1858 10 Xp11.22-p11 xp11.22-p11 CD cord-014712-5u4e00q6 1858 11 - - HYPH cord-014712-5u4e00q6 1858 12 23 23 CD cord-014712-5u4e00q6 1858 13 , , , cord-014712-5u4e00q6 1858 14 which which WDT cord-014712-5u4e00q6 1858 15 consists consist VBZ cord-014712-5u4e00q6 1858 16 of of IN cord-014712-5u4e00q6 1858 17 12 12 CD cord-014712-5u4e00q6 1858 18 exons exon NNS cord-014712-5u4e00q6 1858 19 , , , cord-014712-5u4e00q6 1858 20 and and CC cord-014712-5u4e00q6 1858 21 encodes encode VBZ cord-014712-5u4e00q6 1858 22 a a DT cord-014712-5u4e00q6 1858 23 502-amino 502-amino CD cord-014712-5u4e00q6 1858 24 acid acid NN cord-014712-5u4e00q6 1858 25 protein protein NN cord-014712-5u4e00q6 1858 26 . . . cord-014712-5u4e00q6 1859 1 In in IN cord-014712-5u4e00q6 1859 2 this this DT cord-014712-5u4e00q6 1859 3 study study NN cord-014712-5u4e00q6 1859 4 , , , cord-014712-5u4e00q6 1859 5 we -PRON- PRP cord-014712-5u4e00q6 1859 6 aimed aim VBD cord-014712-5u4e00q6 1859 7 to to IN cord-014712-5u4e00q6 1859 8 screen screen NN cord-014712-5u4e00q6 1859 9 WAS be VBD cord-014712-5u4e00q6 1859 10 gene gene NN cord-014712-5u4e00q6 1859 11 mutations mutation NNS cord-014712-5u4e00q6 1859 12 and and CC cord-014712-5u4e00q6 1859 13 analyze analyze VB cord-014712-5u4e00q6 1859 14 the the DT cord-014712-5u4e00q6 1859 15 effects effect NNS cord-014712-5u4e00q6 1859 16 of of IN cord-014712-5u4e00q6 1859 17 determined determined JJ cord-014712-5u4e00q6 1859 18 mutations mutation NNS cord-014712-5u4e00q6 1859 19 in in IN cord-014712-5u4e00q6 1859 20 2 2 CD cord-014712-5u4e00q6 1859 21 boys boy NNS cord-014712-5u4e00q6 1859 22 with with IN cord-014712-5u4e00q6 1859 23 non non JJ cord-014712-5u4e00q6 1859 24 - - JJ cord-014712-5u4e00q6 1859 25 classical classical JJ cord-014712-5u4e00q6 1859 26 WAS be VBD cord-014712-5u4e00q6 1859 27 phenotype phenotype NN cord-014712-5u4e00q6 1859 28 . . . cord-014712-5u4e00q6 1860 1 IVS10 IVS10 NNP cord-014712-5u4e00q6 1861 1 + + SYM cord-014712-5u4e00q6 1861 2 1 1 CD cord-014712-5u4e00q6 1861 3 G g NN cord-014712-5u4e00q6 1861 4 > > XX cord-014712-5u4e00q6 1862 1 A a DT cord-014712-5u4e00q6 1862 2 gene gene NN cord-014712-5u4e00q6 1862 3 alteration alteration NN cord-014712-5u4e00q6 1862 4 in in IN cord-014712-5u4e00q6 1862 5 intron intron NN cord-014712-5u4e00q6 1862 6 10 10 CD cord-014712-5u4e00q6 1862 7 of of IN cord-014712-5u4e00q6 1862 8 WAS be VBD cord-014712-5u4e00q6 1862 9 gene gene NN cord-014712-5u4e00q6 1862 10 was be VBD cord-014712-5u4e00q6 1862 11 identified identify VBN cord-014712-5u4e00q6 1862 12 in in IN cord-014712-5u4e00q6 1862 13 Case case NN cord-014712-5u4e00q6 1862 14 1 1 CD cord-014712-5u4e00q6 1862 15 , , , cord-014712-5u4e00q6 1862 16 previously previously RB cord-014712-5u4e00q6 1862 17 . . . cord-014712-5u4e00q6 1863 1 So so RB cord-014712-5u4e00q6 1863 2 , , , cord-014712-5u4e00q6 1863 3 RNA RNA NNP cord-014712-5u4e00q6 1863 4 isolation isolation NN cord-014712-5u4e00q6 1863 5 and and CC cord-014712-5u4e00q6 1863 6 then then RB cord-014712-5u4e00q6 1863 7 cDNA cDNA NNP cord-014712-5u4e00q6 1863 8 synthesized synthesize VBN cord-014712-5u4e00q6 1863 9 was be VBD cord-014712-5u4e00q6 1863 10 carried carry VBN cord-014712-5u4e00q6 1863 11 out out RP cord-014712-5u4e00q6 1863 12 . . . cord-014712-5u4e00q6 1864 1 In in IN cord-014712-5u4e00q6 1864 2 Case case NN cord-014712-5u4e00q6 1864 3 2 2 CD cord-014712-5u4e00q6 1864 4 , , , cord-014712-5u4e00q6 1864 5 after after IN cord-014712-5u4e00q6 1864 6 amplification amplification NN cord-014712-5u4e00q6 1864 7 of of IN cord-014712-5u4e00q6 1864 8 12 12 CD cord-014712-5u4e00q6 1864 9 exons exon NNS cord-014712-5u4e00q6 1864 10 of of IN cord-014712-5u4e00q6 1864 11 WAS be VBD cord-014712-5u4e00q6 1864 12 gene gene NN cord-014712-5u4e00q6 1864 13 by by IN cord-014712-5u4e00q6 1864 14 PCR PCR NNP cord-014712-5u4e00q6 1864 15 , , , cord-014712-5u4e00q6 1864 16 the the DT cord-014712-5u4e00q6 1864 17 amplicons amplicon NNS cord-014712-5u4e00q6 1864 18 were be VBD cord-014712-5u4e00q6 1864 19 sequenced sequence VBN cord-014712-5u4e00q6 1864 20 . . . cord-014712-5u4e00q6 1865 1 In in IN cord-014712-5u4e00q6 1865 2 this this DT cord-014712-5u4e00q6 1865 3 patient patient NN cord-014712-5u4e00q6 1865 4 , , , cord-014712-5u4e00q6 1865 5 G g NN cord-014712-5u4e00q6 1865 6 > > XX cord-014712-5u4e00q6 1865 7 C c NN cord-014712-5u4e00q6 1865 8 alteration alteration NN cord-014712-5u4e00q6 1865 9 was be VBD cord-014712-5u4e00q6 1865 10 detected detect VBN cord-014712-5u4e00q6 1865 11 in in IN cord-014712-5u4e00q6 1865 12 the the DT cord-014712-5u4e00q6 1865 13 first first JJ cord-014712-5u4e00q6 1865 14 base base NN cord-014712-5u4e00q6 1865 15 of of IN cord-014712-5u4e00q6 1865 16 intron intron NN cord-014712-5u4e00q6 1865 17 9 9 CD cord-014712-5u4e00q6 1865 18 . . . cord-014712-5u4e00q6 1866 1 Afterwards afterwards RB cord-014712-5u4e00q6 1866 2 , , , cord-014712-5u4e00q6 1866 3 cDNA cdna NN cord-014712-5u4e00q6 1866 4 synthesized synthesize VBN cord-014712-5u4e00q6 1866 5 for for IN cord-014712-5u4e00q6 1866 6 detecting detect VBG cord-014712-5u4e00q6 1866 7 the the DT cord-014712-5u4e00q6 1866 8 splicing splicing NN cord-014712-5u4e00q6 1866 9 effect effect NN cord-014712-5u4e00q6 1866 10 . . . cord-014712-5u4e00q6 1867 1 Based base VBN cord-014712-5u4e00q6 1867 2 on on IN cord-014712-5u4e00q6 1867 3 the the DT cord-014712-5u4e00q6 1867 4 gel gel NN cord-014712-5u4e00q6 1867 5 image image NN cord-014712-5u4e00q6 1867 6 results result NNS cord-014712-5u4e00q6 1867 7 , , , cord-014712-5u4e00q6 1867 8 cDNA cdna NN cord-014712-5u4e00q6 1867 9 found find VBD cord-014712-5u4e00q6 1867 10 to to TO cord-014712-5u4e00q6 1867 11 be be VB cord-014712-5u4e00q6 1867 12 400 400 CD cord-014712-5u4e00q6 1867 13 base base NN cord-014712-5u4e00q6 1867 14 pairs pair NNS cord-014712-5u4e00q6 1867 15 smaller small JJR cord-014712-5u4e00q6 1867 16 than than IN cord-014712-5u4e00q6 1867 17 the the DT cord-014712-5u4e00q6 1867 18 normal normal JJ cord-014712-5u4e00q6 1867 19 in in IN cord-014712-5u4e00q6 1867 20 Case case NN cord-014712-5u4e00q6 1867 21 1 1 CD cord-014712-5u4e00q6 1867 22 . . . cord-014712-5u4e00q6 1868 1 In in IN cord-014712-5u4e00q6 1868 2 Case case NN cord-014712-5u4e00q6 1868 3 2 2 CD cord-014712-5u4e00q6 1868 4 , , , cord-014712-5u4e00q6 1868 5 G g NN cord-014712-5u4e00q6 1868 6 > > XX cord-014712-5u4e00q6 1868 7 C c NN cord-014712-5u4e00q6 1868 8 alteration alteration NN cord-014712-5u4e00q6 1868 9 was be VBD cord-014712-5u4e00q6 1868 10 detected detect VBN cord-014712-5u4e00q6 1868 11 in in IN cord-014712-5u4e00q6 1868 12 the the DT cord-014712-5u4e00q6 1868 13 first first JJ cord-014712-5u4e00q6 1868 14 base base NN cord-014712-5u4e00q6 1868 15 of of IN cord-014712-5u4e00q6 1868 16 intron intron NN cord-014712-5u4e00q6 1868 17 9 9 CD cord-014712-5u4e00q6 1869 1 and and CC cord-014712-5u4e00q6 1869 2 then then RB cord-014712-5u4e00q6 1869 3 we -PRON- PRP cord-014712-5u4e00q6 1869 4 determined determine VBD cord-014712-5u4e00q6 1869 5 multiple multiple JJ cord-014712-5u4e00q6 1869 6 splicing splicing NN cord-014712-5u4e00q6 1869 7 products product NNS cord-014712-5u4e00q6 1869 8 . . . cord-014712-5u4e00q6 1870 1 Two two CD cord-014712-5u4e00q6 1870 2 different different JJ cord-014712-5u4e00q6 1870 3 splicing splicing NN cord-014712-5u4e00q6 1870 4 mutations mutation NNS cord-014712-5u4e00q6 1870 5 ( ( -LRB- cord-014712-5u4e00q6 1870 6 IVS10 ivs10 VB cord-014712-5u4e00q6 1870 7 + + SYM cord-014712-5u4e00q6 1870 8 1 1 CD cord-014712-5u4e00q6 1870 9 G g NN cord-014712-5u4e00q6 1870 10 > > XX cord-014712-5u4e00q6 1870 11 A a NN cord-014712-5u4e00q6 1870 12 and and CC cord-014712-5u4e00q6 1870 13 IVS9 IVS9 NNP cord-014712-5u4e00q6 1870 14 + + SYM cord-014712-5u4e00q6 1870 15 1 1 CD cord-014712-5u4e00q6 1870 16 G g NN cord-014712-5u4e00q6 1870 17 > > XX cord-014712-5u4e00q6 1870 18 C c NN cord-014712-5u4e00q6 1870 19 ) ) -RRB- cord-014712-5u4e00q6 1870 20 were be VBD cord-014712-5u4e00q6 1870 21 detected detect VBN cord-014712-5u4e00q6 1870 22 in in IN cord-014712-5u4e00q6 1870 23 two two CD cord-014712-5u4e00q6 1870 24 cases case NNS cord-014712-5u4e00q6 1870 25 with with IN cord-014712-5u4e00q6 1870 26 non non JJ cord-014712-5u4e00q6 1870 27 - - JJ cord-014712-5u4e00q6 1870 28 classical classical JJ cord-014712-5u4e00q6 1870 29 phenotype phenotype NN cord-014712-5u4e00q6 1870 30 . . . cord-014712-5u4e00q6 1871 1 IVS9 IVS9 NNP cord-014712-5u4e00q6 1871 2 + + SYM cord-014712-5u4e00q6 1871 3 1 1 CD cord-014712-5u4e00q6 1871 4 G g NN cord-014712-5u4e00q6 1871 5 > > XX cord-014712-5u4e00q6 1872 1 A a DT cord-014712-5u4e00q6 1872 2 splicing splicing NN cord-014712-5u4e00q6 1872 3 mutation mutation NN cord-014712-5u4e00q6 1872 4 was be VBD cord-014712-5u4e00q6 1872 5 stated state VBN cord-014712-5u4e00q6 1872 6 in in IN cord-014712-5u4e00q6 1872 7 the the DT cord-014712-5u4e00q6 1872 8 literature literature NN cord-014712-5u4e00q6 1872 9 , , , cord-014712-5u4e00q6 1872 10 previously previously RB cord-014712-5u4e00q6 1872 11 , , , cord-014712-5u4e00q6 1872 12 but but CC cord-014712-5u4e00q6 1872 13 IVS9 IVS9 NNP cord-014712-5u4e00q6 1872 14 + + SYM cord-014712-5u4e00q6 1872 15 1 1 CD cord-014712-5u4e00q6 1872 16 G g NN cord-014712-5u4e00q6 1872 17 > > XX cord-014712-5u4e00q6 1872 18 C c NN cord-014712-5u4e00q6 1872 19 mutation mutation NN cord-014712-5u4e00q6 1872 20 was be VBD cord-014712-5u4e00q6 1872 21 first first JJ cord-014712-5u4e00q6 1872 22 time time NN cord-014712-5u4e00q6 1872 23 identified identify VBN cord-014712-5u4e00q6 1872 24 in in IN cord-014712-5u4e00q6 1872 25 this this DT cord-014712-5u4e00q6 1872 26 study study NN cord-014712-5u4e00q6 1872 27 . . . cord-014712-5u4e00q6 1873 1 WHIM whim NN cord-014712-5u4e00q6 1873 2 is be VBZ cord-014712-5u4e00q6 1873 3 rare rare JJ cord-014712-5u4e00q6 1873 4 ( ( -LRB- cord-014712-5u4e00q6 1873 5 < < NNP cord-014712-5u4e00q6 1873 6 1 1 CD cord-014712-5u4e00q6 1873 7 / / SYM cord-014712-5u4e00q6 1873 8 1 1 CD cord-014712-5u4e00q6 1873 9 000 000 CD cord-014712-5u4e00q6 1873 10 000 000 CD cord-014712-5u4e00q6 1873 11 ) ) -RRB- cord-014712-5u4e00q6 1873 12 , , , cord-014712-5u4e00q6 1873 13 heterozygous heterozygous JJ cord-014712-5u4e00q6 1873 14 , , , cord-014712-5u4e00q6 1873 15 autosomal autosomal JJ cord-014712-5u4e00q6 1873 16 dominantly dominantly RB cord-014712-5u4e00q6 1873 17 inherited inherit VBN cord-014712-5u4e00q6 1873 18 PID PID NNP cord-014712-5u4e00q6 1873 19 , , , cord-014712-5u4e00q6 1873 20 caused cause VBN cord-014712-5u4e00q6 1873 21 by by IN cord-014712-5u4e00q6 1873 22 mutations mutation NNS cord-014712-5u4e00q6 1873 23 in in IN cord-014712-5u4e00q6 1873 24 the the DT cord-014712-5u4e00q6 1873 25 gene gene NN cord-014712-5u4e00q6 1873 26 encoding encoding NN cord-014712-5u4e00q6 1873 27 for for IN cord-014712-5u4e00q6 1873 28 the the DT cord-014712-5u4e00q6 1873 29 chemokine chemokine NN cord-014712-5u4e00q6 1873 30 receptor receptor NN cord-014712-5u4e00q6 1873 31 CXCR4 CXCR4 NNP cord-014712-5u4e00q6 1873 32 , , , cord-014712-5u4e00q6 1873 33 mapped map VBN cord-014712-5u4e00q6 1873 34 on on IN cord-014712-5u4e00q6 1873 35 2q21 2q21 CD cord-014712-5u4e00q6 1873 36 locus locus NN cord-014712-5u4e00q6 1873 37 . . . cord-014712-5u4e00q6 1874 1 The the DT cord-014712-5u4e00q6 1874 2 altered altered JJ cord-014712-5u4e00q6 1874 3 CXCR4/ cxcr4/ NN cord-014712-5u4e00q6 1875 1 CXCL12 cxcl12 NN cord-014712-5u4e00q6 1875 2 interaction interaction NN cord-014712-5u4e00q6 1875 3 impairs impair VBZ cord-014712-5u4e00q6 1875 4 cellular cellular JJ cord-014712-5u4e00q6 1875 5 homeostasis homeostasis NN cord-014712-5u4e00q6 1875 6 and and CC cord-014712-5u4e00q6 1875 7 trafficking trafficking NN cord-014712-5u4e00q6 1875 8 , , , cord-014712-5u4e00q6 1875 9 resulting result VBG cord-014712-5u4e00q6 1875 10 in in IN cord-014712-5u4e00q6 1875 11 immunological immunological JJ cord-014712-5u4e00q6 1875 12 dysfunctions dysfunction NNS cord-014712-5u4e00q6 1875 13 with with IN cord-014712-5u4e00q6 1875 14 abnormal abnormal JJ cord-014712-5u4e00q6 1875 15 retention retention NN cord-014712-5u4e00q6 1875 16 of of IN cord-014712-5u4e00q6 1875 17 mature mature JJ cord-014712-5u4e00q6 1875 18 neutrophils neutrophil NNS cord-014712-5u4e00q6 1875 19 in in IN cord-014712-5u4e00q6 1875 20 the the DT cord-014712-5u4e00q6 1875 21 bone bone NN cord-014712-5u4e00q6 1875 22 marrow marrow NN cord-014712-5u4e00q6 1875 23 ( ( -LRB- cord-014712-5u4e00q6 1875 24 myelokathexis myelokathexis NNP cord-014712-5u4e00q6 1875 25 ) ) -RRB- cord-014712-5u4e00q6 1875 26 and and CC cord-014712-5u4e00q6 1875 27 consecutive consecutive JJ cord-014712-5u4e00q6 1875 28 severe severe JJ cord-014712-5u4e00q6 1875 29 neutropenia neutropenia NN cord-014712-5u4e00q6 1875 30 , , , cord-014712-5u4e00q6 1875 31 variable variable JJ cord-014712-5u4e00q6 1875 32 degree degree NN cord-014712-5u4e00q6 1875 33 of of IN cord-014712-5u4e00q6 1875 34 lymphopenia lymphopenia NNP cord-014712-5u4e00q6 1875 35 and and CC cord-014712-5u4e00q6 1875 36 hypogammaglobulinemia hypogammaglobulinemia NNP cord-014712-5u4e00q6 1875 37 . . . cord-014712-5u4e00q6 1876 1 WHIM whim NN cord-014712-5u4e00q6 1876 2 patients patient NNS cord-014712-5u4e00q6 1876 3 suffer suffer VBP cord-014712-5u4e00q6 1876 4 from from IN cord-014712-5u4e00q6 1876 5 recurrent recurrent JJ cord-014712-5u4e00q6 1876 6 bacterial bacterial JJ cord-014712-5u4e00q6 1876 7 infections infection NNS cord-014712-5u4e00q6 1876 8 since since IN cord-014712-5u4e00q6 1876 9 early early JJ cord-014712-5u4e00q6 1876 10 childhood childhood NN cord-014712-5u4e00q6 1876 11 and and CC cord-014712-5u4e00q6 1876 12 later later RB cord-014712-5u4e00q6 1876 13 on on IN cord-014712-5u4e00q6 1876 14 manifest manif JJS cord-014712-5u4e00q6 1876 15 a a DT cord-014712-5u4e00q6 1876 16 specific specific JJ cord-014712-5u4e00q6 1876 17 susceptibility susceptibility NN cord-014712-5u4e00q6 1876 18 to to IN cord-014712-5u4e00q6 1876 19 HPV hpv NN cord-014712-5u4e00q6 1876 20 infections infection NNS cord-014712-5u4e00q6 1876 21 with with IN cord-014712-5u4e00q6 1876 22 developing develop VBG cord-014712-5u4e00q6 1876 23 widespread widespread JJ cord-014712-5u4e00q6 1876 24 warts wart NNS cord-014712-5u4e00q6 1876 25 . . . cord-014712-5u4e00q6 1877 1 Because because IN cord-014712-5u4e00q6 1877 2 of of IN cord-014712-5u4e00q6 1877 3 rarity rarity NN cord-014712-5u4e00q6 1877 4 of of IN cord-014712-5u4e00q6 1877 5 the the DT cord-014712-5u4e00q6 1877 6 disease disease NN cord-014712-5u4e00q6 1877 7 , , , cord-014712-5u4e00q6 1877 8 heterogeneity heterogeneity NN cord-014712-5u4e00q6 1877 9 in in IN cord-014712-5u4e00q6 1877 10 clinical clinical JJ cord-014712-5u4e00q6 1877 11 presentation presentation NN cord-014712-5u4e00q6 1877 12 and and CC cord-014712-5u4e00q6 1877 13 usually usually RB cord-014712-5u4e00q6 1877 14 incomplete incomplete JJ cord-014712-5u4e00q6 1877 15 phenotype phenotype NN cord-014712-5u4e00q6 1877 16 , , , cord-014712-5u4e00q6 1877 17 the the DT cord-014712-5u4e00q6 1877 18 diagnosis diagnosis NN cord-014712-5u4e00q6 1877 19 is be VBZ cord-014712-5u4e00q6 1877 20 often often RB cord-014712-5u4e00q6 1877 21 delayed delay VBN cord-014712-5u4e00q6 1877 22 and and CC cord-014712-5u4e00q6 1877 23 WHIM whim NN cord-014712-5u4e00q6 1877 24 syndrome syndrome NN cord-014712-5u4e00q6 1877 25 is be VBZ cord-014712-5u4e00q6 1877 26 not not RB cord-014712-5u4e00q6 1877 27 suspected suspect VBN cord-014712-5u4e00q6 1877 28 . . . cord-014712-5u4e00q6 1878 1 A a DT cord-014712-5u4e00q6 1878 2 13 13 CD cord-014712-5u4e00q6 1878 3 year year NN cord-014712-5u4e00q6 1878 4 old old JJ cord-014712-5u4e00q6 1878 5 boy boy NN cord-014712-5u4e00q6 1878 6 who who WP cord-014712-5u4e00q6 1878 7 is be VBZ cord-014712-5u4e00q6 1878 8 suffering suffer VBG cord-014712-5u4e00q6 1878 9 from from IN cord-014712-5u4e00q6 1878 10 recurrent recurrent JJ cord-014712-5u4e00q6 1878 11 bacterial bacterial JJ cord-014712-5u4e00q6 1878 12 infections infection NNS cord-014712-5u4e00q6 1878 13 , , , cord-014712-5u4e00q6 1878 14 often often RB cord-014712-5u4e00q6 1878 15 complicated complicate VBN cord-014712-5u4e00q6 1878 16 with with IN cord-014712-5u4e00q6 1878 17 bronchopneumonia bronchopneumonia NN cord-014712-5u4e00q6 1878 18 , , , cord-014712-5u4e00q6 1878 19 with with IN cord-014712-5u4e00q6 1878 20 severe severe JJ cord-014712-5u4e00q6 1878 21 neutropenia neutropenia NN cord-014712-5u4e00q6 1878 22 , , , cord-014712-5u4e00q6 1878 23 but but CC cord-014712-5u4e00q6 1878 24 also also RB cord-014712-5u4e00q6 1878 25 , , , cord-014712-5u4e00q6 1878 26 with with IN cord-014712-5u4e00q6 1878 27 lower low JJR cord-014712-5u4e00q6 1878 28 level level NN cord-014712-5u4e00q6 1878 29 of of IN cord-014712-5u4e00q6 1878 30 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 1878 31 and and CC cord-014712-5u4e00q6 1878 32 still still RB cord-014712-5u4e00q6 1878 33 , , , cord-014712-5u4e00q6 1878 34 normal normal JJ cord-014712-5u4e00q6 1878 35 serum serum NN cord-014712-5u4e00q6 1878 36 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 1878 37 level level NN cord-014712-5u4e00q6 1878 38 is be VBZ cord-014712-5u4e00q6 1878 39 presented present VBN cord-014712-5u4e00q6 1878 40 . . . cord-014712-5u4e00q6 1879 1 He -PRON- PRP cord-014712-5u4e00q6 1879 2 has have VBZ cord-014712-5u4e00q6 1879 3 no no DT cord-014712-5u4e00q6 1879 4 developed develop VBN cord-014712-5u4e00q6 1879 5 warts wart NNS cord-014712-5u4e00q6 1879 6 ; ; : cord-014712-5u4e00q6 1879 7 neither neither CC cord-014712-5u4e00q6 1879 8 his -PRON- PRP$ cord-014712-5u4e00q6 1879 9 parents parent NNS cord-014712-5u4e00q6 1879 10 nor nor CC cord-014712-5u4e00q6 1879 11 relatives relative NNS cord-014712-5u4e00q6 1879 12 have have VBP cord-014712-5u4e00q6 1879 13 warts wart NNS cord-014712-5u4e00q6 1879 14 . . . cord-014712-5u4e00q6 1880 1 At at IN cord-014712-5u4e00q6 1880 2 the the DT cord-014712-5u4e00q6 1880 3 age age NN cord-014712-5u4e00q6 1880 4 of of IN cord-014712-5u4e00q6 1880 5 10 10 CD cord-014712-5u4e00q6 1880 6 years year NNS cord-014712-5u4e00q6 1880 7 was be VBD cord-014712-5u4e00q6 1880 8 unveiled unveil VBN cord-014712-5u4e00q6 1880 9 the the DT cord-014712-5u4e00q6 1880 10 diseasecausing diseasecausing NN cord-014712-5u4e00q6 1880 11 mutation mutation NN cord-014712-5u4e00q6 1880 12 in in IN cord-014712-5u4e00q6 1880 13 the the DT cord-014712-5u4e00q6 1880 14 CXCR4 cxcr4 NN cord-014712-5u4e00q6 1880 15 gene gene NN cord-014712-5u4e00q6 1880 16 ( ( -LRB- cord-014712-5u4e00q6 1880 17 c.1000C c.1000c CD cord-014712-5u4e00q6 1881 1 > > XX cord-014712-5u4e00q6 1882 1 T T NNP cord-014712-5u4e00q6 1882 2 ; ; : cord-014712-5u4e00q6 1882 3 p. p. NN cord-014712-5u4e00q6 1883 1 R334X r334x NN cord-014712-5u4e00q6 1883 2 ; ; : cord-014712-5u4e00q6 1883 3 heterozygote heterozygote NN cord-014712-5u4e00q6 1883 4 ) ) -RRB- cord-014712-5u4e00q6 1883 5 . . . cord-014712-5u4e00q6 1884 1 Severe severe JJ cord-014712-5u4e00q6 1884 2 congenital congenital JJ cord-014712-5u4e00q6 1884 3 neutropenia neutropenia NN cord-014712-5u4e00q6 1884 4 accompanied accompany VBN cord-014712-5u4e00q6 1884 5 with with IN cord-014712-5u4e00q6 1884 6 lymphopenia lymphopenia NNP cord-014712-5u4e00q6 1884 7 and and CC cord-014712-5u4e00q6 1884 8 findings finding NNS cord-014712-5u4e00q6 1884 9 of of IN cord-014712-5u4e00q6 1884 10 mature mature JJ cord-014712-5u4e00q6 1884 11 neutrophils neutrophil NNS cord-014712-5u4e00q6 1884 12 in in IN cord-014712-5u4e00q6 1884 13 bone bone NN cord-014712-5u4e00q6 1884 14 marrow marrow NN cord-014712-5u4e00q6 1884 15 , , , cord-014712-5u4e00q6 1884 16 might may MD cord-014712-5u4e00q6 1884 17 be be VB cord-014712-5u4e00q6 1884 18 an an DT cord-014712-5u4e00q6 1884 19 easy easy JJ cord-014712-5u4e00q6 1884 20 approach approach NN cord-014712-5u4e00q6 1884 21 for for IN cord-014712-5u4e00q6 1884 22 getting get VBG cord-014712-5u4e00q6 1884 23 closer close RBR cord-014712-5u4e00q6 1884 24 to to IN cord-014712-5u4e00q6 1884 25 the the DT cord-014712-5u4e00q6 1884 26 clinical clinical JJ cord-014712-5u4e00q6 1884 27 diagnosis diagnosis NN cord-014712-5u4e00q6 1884 28 of of IN cord-014712-5u4e00q6 1884 29 WHIM WHIM NNP cord-014712-5u4e00q6 1884 30 syndrome syndrome NN cord-014712-5u4e00q6 1884 31 . . . cord-014712-5u4e00q6 1885 1 Early early JJ cord-014712-5u4e00q6 1885 2 identification identification NN cord-014712-5u4e00q6 1885 3 is be VBZ cord-014712-5u4e00q6 1885 4 important important JJ cord-014712-5u4e00q6 1885 5 for for IN cord-014712-5u4e00q6 1885 6 clinical clinical JJ cord-014712-5u4e00q6 1885 7 and and CC cord-014712-5u4e00q6 1885 8 therapeutic therapeutic JJ cord-014712-5u4e00q6 1885 9 management management NN cord-014712-5u4e00q6 1885 10 , , , cord-014712-5u4e00q6 1885 11 allowing allow VBG cord-014712-5u4e00q6 1885 12 a a DT cord-014712-5u4e00q6 1885 13 more more RBR cord-014712-5u4e00q6 1885 14 comprehensive comprehensive JJ cord-014712-5u4e00q6 1885 15 follow follow NN cord-014712-5u4e00q6 1885 16 - - HYPH cord-014712-5u4e00q6 1885 17 up up NN cord-014712-5u4e00q6 1885 18 and and CC cord-014712-5u4e00q6 1885 19 administration administration NN cord-014712-5u4e00q6 1885 20 of of IN cord-014712-5u4e00q6 1885 21 appropriate appropriate JJ cord-014712-5u4e00q6 1885 22 therapy therapy NN cord-014712-5u4e00q6 1885 23 . . . cord-014712-5u4e00q6 1886 1 We -PRON- PRP cord-014712-5u4e00q6 1886 2 report report VBP cord-014712-5u4e00q6 1886 3 two two CD cord-014712-5u4e00q6 1886 4 cases case NNS cord-014712-5u4e00q6 1886 5 of of IN cord-014712-5u4e00q6 1886 6 congenital congenital JJ cord-014712-5u4e00q6 1886 7 heart heart NN cord-014712-5u4e00q6 1886 8 disease disease NN cord-014712-5u4e00q6 1886 9 ( ( -LRB- cord-014712-5u4e00q6 1886 10 Tetralogia Tetralogia NNP cord-014712-5u4e00q6 1886 11 Fallot Fallot NNP cord-014712-5u4e00q6 1886 12 and and CC cord-014712-5u4e00q6 1886 13 Interruption interruption NN cord-014712-5u4e00q6 1886 14 aortic aortic JJ cord-014712-5u4e00q6 1886 15 arch arch NN cord-014712-5u4e00q6 1886 16 ) ) -RRB- cord-014712-5u4e00q6 1886 17 with with IN cord-014712-5u4e00q6 1886 18 confirmed confirm VBN cord-014712-5u4e00q6 1886 19 microdeletion microdeletion NN cord-014712-5u4e00q6 1886 20 chromosome chromosome NN cord-014712-5u4e00q6 1886 21 22q11.2 22q11.2 NN cord-014712-5u4e00q6 1886 22 by by IN cord-014712-5u4e00q6 1886 23 karyotype karyotype NN cord-014712-5u4e00q6 1886 24 and and CC cord-014712-5u4e00q6 1886 25 Fluorescence fluorescence NN cord-014712-5u4e00q6 1886 26 In in IN cord-014712-5u4e00q6 1886 27 Situ Situ NNP cord-014712-5u4e00q6 1886 28 Hybridization hybridization NN cord-014712-5u4e00q6 1886 29 analysis analysis NN cord-014712-5u4e00q6 1886 30 ( ( -LRB- cord-014712-5u4e00q6 1886 31 FISH fish NN cord-014712-5u4e00q6 1886 32 ) ) -RRB- cord-014712-5u4e00q6 1886 33 . . . cord-014712-5u4e00q6 1887 1 Children child NNS cord-014712-5u4e00q6 1887 2 underwent undergo VBD cord-014712-5u4e00q6 1887 3 surgical surgical JJ cord-014712-5u4e00q6 1887 4 correction correction NN cord-014712-5u4e00q6 1887 5 of of IN cord-014712-5u4e00q6 1887 6 congenital congenital JJ cord-014712-5u4e00q6 1887 7 heart heart NN cord-014712-5u4e00q6 1887 8 defects defect NNS cord-014712-5u4e00q6 1887 9 with with IN cord-014712-5u4e00q6 1887 10 good good JJ cord-014712-5u4e00q6 1887 11 postoperative postoperative JJ cord-014712-5u4e00q6 1887 12 outcome outcome NN cord-014712-5u4e00q6 1887 13 , , , cord-014712-5u4e00q6 1887 14 although although IN cord-014712-5u4e00q6 1887 15 were be VBD cord-014712-5u4e00q6 1887 16 complex complex JJ cord-014712-5u4e00q6 1887 17 . . . cord-014712-5u4e00q6 1888 1 The the DT cord-014712-5u4e00q6 1888 2 phenotype phenotype NN cord-014712-5u4e00q6 1888 3 of of IN cord-014712-5u4e00q6 1888 4 these these DT cord-014712-5u4e00q6 1888 5 patients patient NNS cord-014712-5u4e00q6 1888 6 can can MD cord-014712-5u4e00q6 1888 7 be be VB cord-014712-5u4e00q6 1888 8 extremely extremely RB cord-014712-5u4e00q6 1888 9 variable variable JJ cord-014712-5u4e00q6 1888 10 , , , cord-014712-5u4e00q6 1888 11 frequently frequently RB cord-014712-5u4e00q6 1888 12 leading lead VBG cord-014712-5u4e00q6 1888 13 to to IN cord-014712-5u4e00q6 1888 14 clinical clinical JJ cord-014712-5u4e00q6 1888 15 confusion confusion NN cord-014712-5u4e00q6 1888 16 , , , cord-014712-5u4e00q6 1888 17 diagnostic diagnostic JJ cord-014712-5u4e00q6 1888 18 delay delay NN cord-014712-5u4e00q6 1888 19 , , , cord-014712-5u4e00q6 1888 20 excess excess JJ cord-014712-5u4e00q6 1888 21 morbidity morbidity NN cord-014712-5u4e00q6 1888 22 , , , cord-014712-5u4e00q6 1888 23 early early JJ cord-014712-5u4e00q6 1888 24 mortality mortality NN cord-014712-5u4e00q6 1888 25 . . . cord-014712-5u4e00q6 1889 1 Identification identification NN cord-014712-5u4e00q6 1889 2 of of IN cord-014712-5u4e00q6 1889 3 these these DT cord-014712-5u4e00q6 1889 4 patients patient NNS cord-014712-5u4e00q6 1889 5 is be VBZ cord-014712-5u4e00q6 1889 6 essential essential JJ cord-014712-5u4e00q6 1889 7 for for IN cord-014712-5u4e00q6 1889 8 their -PRON- PRP$ cord-014712-5u4e00q6 1889 9 adequate adequate JJ cord-014712-5u4e00q6 1889 10 management management NN cord-014712-5u4e00q6 1889 11 and and CC cord-014712-5u4e00q6 1889 12 genetic genetic JJ cord-014712-5u4e00q6 1889 13 counseling counseling NN cord-014712-5u4e00q6 1889 14 . . . cord-014712-5u4e00q6 1890 1 A a DT cord-014712-5u4e00q6 1890 2 multidisciplinary multidisciplinary JJ cord-014712-5u4e00q6 1890 3 approach approach NN cord-014712-5u4e00q6 1890 4 is be VBZ cord-014712-5u4e00q6 1890 5 fundamental fundamental JJ cord-014712-5u4e00q6 1890 6 to to TO cord-014712-5u4e00q6 1890 7 ensure ensure VB cord-014712-5u4e00q6 1890 8 that that IN cord-014712-5u4e00q6 1890 9 the the DT cord-014712-5u4e00q6 1890 10 patient patient NN cord-014712-5u4e00q6 1890 11 will will MD cord-014712-5u4e00q6 1890 12 be be VB cord-014712-5u4e00q6 1890 13 able able JJ cord-014712-5u4e00q6 1890 14 to to TO cord-014712-5u4e00q6 1890 15 attain attain VB cord-014712-5u4e00q6 1890 16 his -PRON- PRP$ cord-014712-5u4e00q6 1890 17 or or CC cord-014712-5u4e00q6 1890 18 her -PRON- PRP$ cord-014712-5u4e00q6 1890 19 maximal maximal JJ cord-014712-5u4e00q6 1890 20 potential potential NN cord-014712-5u4e00q6 1890 21 . . . cord-014712-5u4e00q6 1891 1 The the DT cord-014712-5u4e00q6 1891 2 underlying underlying JJ cord-014712-5u4e00q6 1891 3 cause cause NN cord-014712-5u4e00q6 1891 4 of of IN cord-014712-5u4e00q6 1891 5 the the DT cord-014712-5u4e00q6 1891 6 juvenile juvenile JJ cord-014712-5u4e00q6 1891 7 periodentitis periodentitis NN cord-014712-5u4e00q6 1891 8 is be VBZ cord-014712-5u4e00q6 1891 9 not not RB cord-014712-5u4e00q6 1891 10 well well RB cord-014712-5u4e00q6 1891 11 understood understand VBN cord-014712-5u4e00q6 1891 12 but but CC cord-014712-5u4e00q6 1891 13 is be VBZ cord-014712-5u4e00q6 1891 14 now now RB cord-014712-5u4e00q6 1891 15 thought think VBN cord-014712-5u4e00q6 1891 16 to to TO cord-014712-5u4e00q6 1891 17 be be VB cord-014712-5u4e00q6 1891 18 related relate VBN cord-014712-5u4e00q6 1891 19 to to IN cord-014712-5u4e00q6 1891 20 an an DT cord-014712-5u4e00q6 1891 21 abnormal abnormal JJ cord-014712-5u4e00q6 1891 22 immune immune JJ cord-014712-5u4e00q6 1891 23 system system NN cord-014712-5u4e00q6 1891 24 and and CC cord-014712-5u4e00q6 1891 25 to to IN cord-014712-5u4e00q6 1891 26 invading invade VBG cord-014712-5u4e00q6 1891 27 bacteria bacteria NNS cord-014712-5u4e00q6 1891 28 in in IN cord-014712-5u4e00q6 1891 29 the the DT cord-014712-5u4e00q6 1891 30 cementum cementum NN cord-014712-5u4e00q6 1891 31 of of IN cord-014712-5u4e00q6 1891 32 the the DT cord-014712-5u4e00q6 1891 33 teeth tooth NNS cord-014712-5u4e00q6 1891 34 . . . cord-014712-5u4e00q6 1892 1 Instead instead RB cord-014712-5u4e00q6 1892 2 painful painful JJ cord-014712-5u4e00q6 1892 3 fissures fissure NNS cord-014712-5u4e00q6 1892 4 and and CC cord-014712-5u4e00q6 1892 5 recurrent recurrent JJ cord-014712-5u4e00q6 1892 6 pyogenic pyogenic JJ cord-014712-5u4e00q6 1892 7 infections infection NNS cord-014712-5u4e00q6 1892 8 of of IN cord-014712-5u4e00q6 1892 9 the the DT cord-014712-5u4e00q6 1892 10 skin skin NN cord-014712-5u4e00q6 1892 11 seem seem VBP cord-014712-5u4e00q6 1892 12 to to TO cord-014712-5u4e00q6 1892 13 be be VB cord-014712-5u4e00q6 1892 14 the the DT cord-014712-5u4e00q6 1892 15 most most RBS cord-014712-5u4e00q6 1892 16 common common JJ cord-014712-5u4e00q6 1892 17 medical medical JJ cord-014712-5u4e00q6 1892 18 complications complication NNS cord-014712-5u4e00q6 1892 19 . . . cord-014712-5u4e00q6 1893 1 However however RB cord-014712-5u4e00q6 1893 2 , , , cord-014712-5u4e00q6 1893 3 a a DT cord-014712-5u4e00q6 1893 4 number number NN cord-014712-5u4e00q6 1893 5 of of IN cord-014712-5u4e00q6 1893 6 PLS PLS NNP cord-014712-5u4e00q6 1893 7 patients patient NNS cord-014712-5u4e00q6 1893 8 with with IN cord-014712-5u4e00q6 1893 9 abscesses abscess NNS cord-014712-5u4e00q6 1893 10 or or CC cord-014712-5u4e00q6 1893 11 pseudotumors pseudotumor NNS cord-014712-5u4e00q6 1893 12 of of IN cord-014712-5u4e00q6 1893 13 the the DT cord-014712-5u4e00q6 1893 14 liver liver NN cord-014712-5u4e00q6 1893 15 have have VBP cord-014712-5u4e00q6 1893 16 been be VBN cord-014712-5u4e00q6 1893 17 described describe VBN cord-014712-5u4e00q6 1893 18 . . . cord-014712-5u4e00q6 1894 1 There there EX cord-014712-5u4e00q6 1894 2 have have VBP cord-014712-5u4e00q6 1894 3 been be VBN cord-014712-5u4e00q6 1894 4 reports report NNS cord-014712-5u4e00q6 1894 5 of of IN cord-014712-5u4e00q6 1894 6 PLS PLS NNP cord-014712-5u4e00q6 1894 7 patients patient NNS cord-014712-5u4e00q6 1894 8 with with IN cord-014712-5u4e00q6 1894 9 other other JJ cord-014712-5u4e00q6 1894 10 stigmata stigmata NN cord-014712-5u4e00q6 1894 11 such such JJ cord-014712-5u4e00q6 1894 12 as as IN cord-014712-5u4e00q6 1894 13 growth growth NN cord-014712-5u4e00q6 1894 14 retardation retardation NN cord-014712-5u4e00q6 1894 15 , , , cord-014712-5u4e00q6 1894 16 non non JJ cord-014712-5u4e00q6 1894 17 - - JJ cord-014712-5u4e00q6 1894 18 symptomatic symptomatic JJ cord-014712-5u4e00q6 1894 19 intracranial intracranial JJ cord-014712-5u4e00q6 1894 20 calcifications calcification NNS cord-014712-5u4e00q6 1894 21 and and CC cord-014712-5u4e00q6 1894 22 mental mental JJ cord-014712-5u4e00q6 1894 23 retardation retardation NN cord-014712-5u4e00q6 1895 1 Furthermore furthermore RB cord-014712-5u4e00q6 1895 2 , , , cord-014712-5u4e00q6 1895 3 coinheritance coinheritance NN cord-014712-5u4e00q6 1895 4 of of IN cord-014712-5u4e00q6 1895 5 PLS PLS NNP cord-014712-5u4e00q6 1895 6 and and CC cord-014712-5u4e00q6 1895 7 albinism albinism NN cord-014712-5u4e00q6 1895 8 type type NN cord-014712-5u4e00q6 1895 9 1 1 CD cord-014712-5u4e00q6 1895 10 has have VBZ cord-014712-5u4e00q6 1895 11 been be VBN cord-014712-5u4e00q6 1895 12 reported report VBN cord-014712-5u4e00q6 1895 13 . . . cord-014712-5u4e00q6 1896 1 Case case NN cord-014712-5u4e00q6 1896 2 Presentation presentation NN cord-014712-5u4e00q6 1896 3 : : : cord-014712-5u4e00q6 1897 1 A a DT cord-014712-5u4e00q6 1897 2 13 13 CD cord-014712-5u4e00q6 1897 3 yr yr NN cord-014712-5u4e00q6 1897 4 old old JJ cord-014712-5u4e00q6 1897 5 girl girl NN cord-014712-5u4e00q6 1897 6 admitted admit VBD cord-014712-5u4e00q6 1897 7 to to IN cord-014712-5u4e00q6 1897 8 our -PRON- PRP$ cord-014712-5u4e00q6 1897 9 hospital hospital NN cord-014712-5u4e00q6 1897 10 with with IN cord-014712-5u4e00q6 1897 11 chief chief JJ cord-014712-5u4e00q6 1897 12 compliant compliant NN cord-014712-5u4e00q6 1897 13 of of IN cord-014712-5u4e00q6 1897 14 skin skin NN cord-014712-5u4e00q6 1897 15 lesions lesion NNS cord-014712-5u4e00q6 1897 16 since since IN cord-014712-5u4e00q6 1897 17 early early JJ cord-014712-5u4e00q6 1897 18 months month NNS cord-014712-5u4e00q6 1897 19 of of IN cord-014712-5u4e00q6 1897 20 birth birth NN cord-014712-5u4e00q6 1897 21 . . . cord-014712-5u4e00q6 1898 1 In in IN cord-014712-5u4e00q6 1898 2 the the DT cord-014712-5u4e00q6 1898 3 past past JJ cord-014712-5u4e00q6 1898 4 medical medical JJ cord-014712-5u4e00q6 1898 5 history history NN cord-014712-5u4e00q6 1898 6 ; ; : cord-014712-5u4e00q6 1898 7 she -PRON- PRP cord-014712-5u4e00q6 1898 8 had have VBD cord-014712-5u4e00q6 1898 9 skin skin NN cord-014712-5u4e00q6 1898 10 abscess abscess NN cord-014712-5u4e00q6 1898 11 and and CC cord-014712-5u4e00q6 1898 12 failure failure NN cord-014712-5u4e00q6 1898 13 to to TO cord-014712-5u4e00q6 1898 14 thrive thrive VB cord-014712-5u4e00q6 1898 15 . . . cord-014712-5u4e00q6 1899 1 On on IN cord-014712-5u4e00q6 1899 2 admission admission NN cord-014712-5u4e00q6 1899 3 she -PRON- PRP cord-014712-5u4e00q6 1899 4 had have VBD cord-014712-5u4e00q6 1899 5 erythematous erythematous JJ cord-014712-5u4e00q6 1899 6 , , , cord-014712-5u4e00q6 1899 7 shiny shiny JJ cord-014712-5u4e00q6 1899 8 skin skin NN cord-014712-5u4e00q6 1899 9 with with IN cord-014712-5u4e00q6 1899 10 generalized generalized JJ cord-014712-5u4e00q6 1899 11 dry dry JJ cord-014712-5u4e00q6 1899 12 scaly scaly JJ cord-014712-5u4e00q6 1899 13 predominantly predominantly RB cord-014712-5u4e00q6 1899 14 palmoplantar palmoplantar NNP cord-014712-5u4e00q6 1899 15 hyperkeratosis hyperkeratosis NNP cord-014712-5u4e00q6 1899 16 and and CC cord-014712-5u4e00q6 1899 17 loss loss NN cord-014712-5u4e00q6 1899 18 of of IN cord-014712-5u4e00q6 1899 19 teeth tooth NNS cord-014712-5u4e00q6 1899 20 except except IN cord-014712-5u4e00q6 1899 21 four four CD cord-014712-5u4e00q6 1899 22 or or CC cord-014712-5u4e00q6 1899 23 five five CD cord-014712-5u4e00q6 1899 24 molar molar JJ cord-014712-5u4e00q6 1899 25 teeth tooth NNS cord-014712-5u4e00q6 1899 26 . . . cord-014712-5u4e00q6 1900 1 She -PRON- PRP cord-014712-5u4e00q6 1900 2 informed inform VBD cord-014712-5u4e00q6 1900 3 that that IN cord-014712-5u4e00q6 1900 4 she -PRON- PRP cord-014712-5u4e00q6 1900 5 had have VBD cord-014712-5u4e00q6 1900 6 malformed malformed JJ cord-014712-5u4e00q6 1900 7 teeth tooth NNS cord-014712-5u4e00q6 1900 8 since since IN cord-014712-5u4e00q6 1900 9 childhood childhood NN cord-014712-5u4e00q6 1900 10 which which WDT cord-014712-5u4e00q6 1900 11 fell fall VBD cord-014712-5u4e00q6 1900 12 off off RB cord-014712-5u4e00q6 1900 13 one one CD cord-014712-5u4e00q6 1900 14 by by IN cord-014712-5u4e00q6 1900 15 one one CD cord-014712-5u4e00q6 1900 16 . . . cord-014712-5u4e00q6 1901 1 She -PRON- PRP cord-014712-5u4e00q6 1901 2 had have VBD cord-014712-5u4e00q6 1901 3 also also RB cord-014712-5u4e00q6 1901 4 poor poor JJ cord-014712-5u4e00q6 1901 5 oral oral JJ cord-014712-5u4e00q6 1901 6 hygiene hygiene NN cord-014712-5u4e00q6 1901 7 non non JJ cord-014712-5u4e00q6 1901 8 - - JJ cord-014712-5u4e00q6 1901 9 pitting pitting JJ cord-014712-5u4e00q6 1901 10 edema edema NN cord-014712-5u4e00q6 1901 11 on on IN cord-014712-5u4e00q6 1901 12 lower low JJR cord-014712-5u4e00q6 1901 13 extremities extremity NNS cord-014712-5u4e00q6 1901 14 . . . cord-014712-5u4e00q6 1902 1 No no DT cord-014712-5u4e00q6 1902 2 hepatosplenomegaly hepatosplenomegaly NNP cord-014712-5u4e00q6 1902 3 detected detect VBD cord-014712-5u4e00q6 1902 4 . . . cord-014712-5u4e00q6 1903 1 Family family NN cord-014712-5u4e00q6 1903 2 history history NN cord-014712-5u4e00q6 1903 3 was be VBD cord-014712-5u4e00q6 1903 4 negative negative JJ cord-014712-5u4e00q6 1903 5 . . . cord-014712-5u4e00q6 1904 1 She -PRON- PRP cord-014712-5u4e00q6 1904 2 investigated investigate VBD cord-014712-5u4e00q6 1904 3 for for IN cord-014712-5u4e00q6 1904 4 probable probable JJ cord-014712-5u4e00q6 1904 5 immune immune JJ cord-014712-5u4e00q6 1904 6 - - HYPH cord-014712-5u4e00q6 1904 7 deficiency deficiency NN cord-014712-5u4e00q6 1904 8 with with IN cord-014712-5u4e00q6 1904 9 regard regard NN cord-014712-5u4e00q6 1904 10 to to IN cord-014712-5u4e00q6 1904 11 skin skin NN cord-014712-5u4e00q6 1904 12 lesions lesion NNS cord-014712-5u4e00q6 1904 13 , , , cord-014712-5u4e00q6 1904 14 history history NN cord-014712-5u4e00q6 1904 15 of of IN cord-014712-5u4e00q6 1904 16 skin skin NN cord-014712-5u4e00q6 1904 17 abscess abscess NN cord-014712-5u4e00q6 1904 18 and and CC cord-014712-5u4e00q6 1904 19 FTT FTT NNP cord-014712-5u4e00q6 1904 20 the the DT cord-014712-5u4e00q6 1904 21 lab lab NN cord-014712-5u4e00q6 1904 22 finding finding NN cord-014712-5u4e00q6 1904 23 are be VBP cord-014712-5u4e00q6 1904 24 as as IN cord-014712-5u4e00q6 1904 25 following follow VBG cord-014712-5u4e00q6 1904 26 : : : cord-014712-5u4e00q6 1904 27 CBC CBC NNP cord-014712-5u4e00q6 1904 28 diff diff NNP cord-014712-5u4e00q6 1904 29 = = . cord-014712-5u4e00q6 1905 1 Normal normal JJ cord-014712-5u4e00q6 1905 2 , , , cord-014712-5u4e00q6 1905 3 CRP CRP NNP cord-014712-5u4e00q6 1905 4 = = NFP cord-014712-5u4e00q6 1906 1 Neg Neg NNP cord-014712-5u4e00q6 1906 2 , , , cord-014712-5u4e00q6 1906 3 ESR ESR NNP cord-014712-5u4e00q6 1906 4 = = SYM cord-014712-5u4e00q6 1906 5 6 6 CD cord-014712-5u4e00q6 1907 1 , , , cord-014712-5u4e00q6 1907 2 AST AST NNP cord-014712-5u4e00q6 1907 3 = = SYM cord-014712-5u4e00q6 1907 4 31 31 CD cord-014712-5u4e00q6 1907 5 , , , cord-014712-5u4e00q6 1907 6 AlT alt NN cord-014712-5u4e00q6 1907 7 = = SYM cord-014712-5u4e00q6 1907 8 15 15 CD cord-014712-5u4e00q6 1907 9 , , , cord-014712-5u4e00q6 1907 10 Alph Alph NNP cord-014712-5u4e00q6 1907 11 = = SYM cord-014712-5u4e00q6 1907 12 1656 1656 CD cord-014712-5u4e00q6 1907 13 , , , cord-014712-5u4e00q6 1907 14 Alb Alb NNP cord-014712-5u4e00q6 1907 15 = = SYM cord-014712-5u4e00q6 1907 16 3.8 3.8 CD cord-014712-5u4e00q6 1907 17 , , , cord-014712-5u4e00q6 1907 18 Total total JJ cord-014712-5u4e00q6 1907 19 Pr pr NN cord-014712-5u4e00q6 1907 20 = = NN cord-014712-5u4e00q6 1907 21 6.2 6.2 CD cord-014712-5u4e00q6 1908 1 , , , cord-014712-5u4e00q6 1908 2 Urea urea NN cord-014712-5u4e00q6 1908 3 = = SYM cord-014712-5u4e00q6 1908 4 16 16 CD cord-014712-5u4e00q6 1908 5 , , , cord-014712-5u4e00q6 1908 6 Cr cr NN cord-014712-5u4e00q6 1908 7 = = SYM cord-014712-5u4e00q6 1908 8 0.4 0.4 CD cord-014712-5u4e00q6 1908 9 IgG igg NN cord-014712-5u4e00q6 1908 10 = = SYM cord-014712-5u4e00q6 1908 11 1620 1620 CD cord-014712-5u4e00q6 1908 12 , , , cord-014712-5u4e00q6 1908 13 IgM IgM NNP cord-014712-5u4e00q6 1908 14 = = SYM cord-014712-5u4e00q6 1908 15 230 230 CD cord-014712-5u4e00q6 1908 16 , , , cord-014712-5u4e00q6 1908 17 IgA IgA NNP cord-014712-5u4e00q6 1908 18 = = SYM cord-014712-5u4e00q6 1908 19 43 43 CD cord-014712-5u4e00q6 1908 20 , , , cord-014712-5u4e00q6 1908 21 IgE IgE NNP cord-014712-5u4e00q6 1908 22 = = SYM cord-014712-5u4e00q6 1908 23 10.8 10.8 CD cord-014712-5u4e00q6 1908 24 , , , cord-014712-5u4e00q6 1908 25 CD19 CD19 NNP cord-014712-5u4e00q6 1908 26 = = SYM cord-014712-5u4e00q6 1908 27 17 17 CD cord-014712-5u4e00q6 1908 28 % % NN cord-014712-5u4e00q6 1908 29 , , , cord-014712-5u4e00q6 1908 30 CD CD NNP cord-014712-5u4e00q6 1908 31 8 8 CD cord-014712-5u4e00q6 1908 32 = = SYM cord-014712-5u4e00q6 1908 33 20 20 CD cord-014712-5u4e00q6 1908 34 % % NN cord-014712-5u4e00q6 1908 35 , , , cord-014712-5u4e00q6 1908 36 CD3 CD3 NNP cord-014712-5u4e00q6 1908 37 = = SYM cord-014712-5u4e00q6 1908 38 55 55 CD cord-014712-5u4e00q6 1908 39 % % NN cord-014712-5u4e00q6 1908 40 , , , cord-014712-5u4e00q6 1908 41 CD4 CD4 NNP cord-014712-5u4e00q6 1908 42 = = SYM cord-014712-5u4e00q6 1908 43 34 34 CD cord-014712-5u4e00q6 1908 44 % % NN cord-014712-5u4e00q6 1908 45 , , , cord-014712-5u4e00q6 1908 46 CD8 CD8 NNP cord-014712-5u4e00q6 1908 47 = = SYM cord-014712-5u4e00q6 1908 48 20 20 CD cord-014712-5u4e00q6 1908 49 % % NN cord-014712-5u4e00q6 1908 50 , , , cord-014712-5u4e00q6 1908 51 CD CD NNP cord-014712-5u4e00q6 1908 52 56 56 CD cord-014712-5u4e00q6 1908 53 = = SYM cord-014712-5u4e00q6 1908 54 15 15 CD cord-014712-5u4e00q6 1908 55 % % NN cord-014712-5u4e00q6 1908 56 Conclusion conclusion NN cord-014712-5u4e00q6 1908 57 : : : cord-014712-5u4e00q6 1909 1 According accord VBG cord-014712-5u4e00q6 1909 2 to to IN cord-014712-5u4e00q6 1909 3 nearly nearly RB cord-014712-5u4e00q6 1909 4 normal normal JJ cord-014712-5u4e00q6 1909 5 lab lab NN cord-014712-5u4e00q6 1909 6 values value NNS cord-014712-5u4e00q6 1909 7 and and CC cord-014712-5u4e00q6 1909 8 presenting present VBG cord-014712-5u4e00q6 1909 9 signs sign NNS cord-014712-5u4e00q6 1909 10 such such JJ cord-014712-5u4e00q6 1909 11 as as IN cord-014712-5u4e00q6 1909 12 : : : cord-014712-5u4e00q6 1909 13 Generalized generalized JJ cord-014712-5u4e00q6 1909 14 pyogenic pyogenic JJ cord-014712-5u4e00q6 1909 15 periodentitis periodentitis NN cord-014712-5u4e00q6 1909 16 , , , cord-014712-5u4e00q6 1909 17 palmoplantar palmoplantar NNP cord-014712-5u4e00q6 1909 18 hyper hyper NNP cord-014712-5u4e00q6 1909 19 keratosis keratosis NNP cord-014712-5u4e00q6 1909 20 and and CC cord-014712-5u4e00q6 1909 21 negative negative JJ cord-014712-5u4e00q6 1909 22 family family NN cord-014712-5u4e00q6 1909 23 history history NN cord-014712-5u4e00q6 1909 24 were be VBD cord-014712-5u4e00q6 1909 25 attributed attribute VBN cord-014712-5u4e00q6 1909 26 to to IN cord-014712-5u4e00q6 1909 27 a a DT cord-014712-5u4e00q6 1909 28 very very RB cord-014712-5u4e00q6 1909 29 rare rare JJ cord-014712-5u4e00q6 1909 30 autosomal autosomal JJ cord-014712-5u4e00q6 1909 31 recessive recessive JJ cord-014712-5u4e00q6 1909 32 disorder disorder NN cord-014712-5u4e00q6 1909 33 with with IN cord-014712-5u4e00q6 1909 34 ectodermal ectodermal JJ cord-014712-5u4e00q6 1909 35 dysplasia dysplasia NN cord-014712-5u4e00q6 1909 36 known know VBN cord-014712-5u4e00q6 1909 37 as as IN cord-014712-5u4e00q6 1909 38 papillon papillon NN cord-014712-5u4e00q6 1909 39 - - HYPH cord-014712-5u4e00q6 1909 40 lefevresyndrome lefevresyndrome NNP cord-014712-5u4e00q6 1909 41 manifesting manifest VBG cord-014712-5u4e00q6 1909 42 with with IN cord-014712-5u4e00q6 1909 43 palmoplantar palmoplantar NNP cord-014712-5u4e00q6 1909 44 hyperkeratosis hyperkeratosis NNP cord-014712-5u4e00q6 1909 45 and and CC cord-014712-5u4e00q6 1909 46 severe severe JJ cord-014712-5u4e00q6 1909 47 early early JJ cord-014712-5u4e00q6 1909 48 onset onset NN cord-014712-5u4e00q6 1909 49 of of IN cord-014712-5u4e00q6 1909 50 destructive destructive JJ cord-014712-5u4e00q6 1909 51 periodontal periodontal NN cord-014712-5u4e00q6 1909 52 leading lead VBG cord-014712-5u4e00q6 1909 53 to to IN cord-014712-5u4e00q6 1909 54 pre pre VB cord-014712-5u4e00q6 1909 55 - - JJ cord-014712-5u4e00q6 1909 56 mature mature JJ cord-014712-5u4e00q6 1909 57 loss loss NN cord-014712-5u4e00q6 1909 58 of of IN cord-014712-5u4e00q6 1909 59 both both CC cord-014712-5u4e00q6 1909 60 primary primary JJ cord-014712-5u4e00q6 1909 61 and and CC cord-014712-5u4e00q6 1909 62 permanent permanent JJ cord-014712-5u4e00q6 1909 63 dentitions dentition NNS cord-014712-5u4e00q6 1909 64 . . . cord-014712-5u4e00q6 1910 1 Nijmegen Nijmegen NNP cord-014712-5u4e00q6 1910 2 breakage breakage NN cord-014712-5u4e00q6 1910 3 syndrome syndrome NN cord-014712-5u4e00q6 1910 4 ( ( -LRB- cord-014712-5u4e00q6 1910 5 NBS NBS NNP cord-014712-5u4e00q6 1910 6 ) ) -RRB- cord-014712-5u4e00q6 1910 7 is be VBZ cord-014712-5u4e00q6 1910 8 a a DT cord-014712-5u4e00q6 1910 9 rare rare JJ cord-014712-5u4e00q6 1910 10 autosomal autosomal JJ cord-014712-5u4e00q6 1910 11 recessive recessive JJ cord-014712-5u4e00q6 1910 12 syndrome syndrome NN cord-014712-5u4e00q6 1910 13 of of IN cord-014712-5u4e00q6 1910 14 chromosomal chromosomal JJ cord-014712-5u4e00q6 1910 15 instability instability NN cord-014712-5u4e00q6 1910 16 mainly mainly RB cord-014712-5u4e00q6 1910 17 characterized characterize VBN cord-014712-5u4e00q6 1910 18 by by IN cord-014712-5u4e00q6 1910 19 microcephaly microcephaly NNS cord-014712-5u4e00q6 1910 20 at at IN cord-014712-5u4e00q6 1910 21 birth birth NN cord-014712-5u4e00q6 1910 22 , , , cord-014712-5u4e00q6 1910 23 combined combine VBN cord-014712-5u4e00q6 1910 24 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1910 25 and and CC cord-014712-5u4e00q6 1910 26 predisposition predisposition NN cord-014712-5u4e00q6 1910 27 to to IN cord-014712-5u4e00q6 1910 28 malignancies malignancy NNS cord-014712-5u4e00q6 1910 29 . . . cord-014712-5u4e00q6 1911 1 The the DT cord-014712-5u4e00q6 1911 2 disease disease NN cord-014712-5u4e00q6 1911 3 is be VBZ cord-014712-5u4e00q6 1911 4 caused cause VBN cord-014712-5u4e00q6 1911 5 by by IN cord-014712-5u4e00q6 1911 6 mutations mutation NNS cord-014712-5u4e00q6 1911 7 in in IN cord-014712-5u4e00q6 1911 8 the the DT cord-014712-5u4e00q6 1911 9 NBS1 NBS1 NNP cord-014712-5u4e00q6 1911 10 gene gene NN cord-014712-5u4e00q6 1911 11 , , , cord-014712-5u4e00q6 1911 12 which which WDT cord-014712-5u4e00q6 1911 13 encodes encode VBZ cord-014712-5u4e00q6 1911 14 nibrin nibrin NNP cord-014712-5u4e00q6 1911 15 , , , cord-014712-5u4e00q6 1911 16 a a DT cord-014712-5u4e00q6 1911 17 component component NN cord-014712-5u4e00q6 1911 18 of of IN cord-014712-5u4e00q6 1911 19 the the DT cord-014712-5u4e00q6 1911 20 hMre11-Rad50-p95 hmre11-rad50-p95 JJ cord-014712-5u4e00q6 1911 21 complex complex NN cord-014712-5u4e00q6 1911 22 involved involve VBN cord-014712-5u4e00q6 1911 23 in in IN cord-014712-5u4e00q6 1911 24 cellular cellular JJ cord-014712-5u4e00q6 1911 25 response response NN cord-014712-5u4e00q6 1911 26 to to IN cord-014712-5u4e00q6 1911 27 DNA dna NN cord-014712-5u4e00q6 1911 28 doublestrand doublestrand NN cord-014712-5u4e00q6 1911 29 breaks break NNS cord-014712-5u4e00q6 1911 30 . . . cord-014712-5u4e00q6 1912 1 The the DT cord-014712-5u4e00q6 1912 2 aim aim NN cord-014712-5u4e00q6 1912 3 of of IN cord-014712-5u4e00q6 1912 4 the the DT cord-014712-5u4e00q6 1912 5 present present JJ cord-014712-5u4e00q6 1912 6 case case NN cord-014712-5u4e00q6 1912 7 report report NN cord-014712-5u4e00q6 1912 8 was be VBD cord-014712-5u4e00q6 1912 9 to to TO cord-014712-5u4e00q6 1912 10 discuss discuss VB cord-014712-5u4e00q6 1912 11 two two CD cord-014712-5u4e00q6 1912 12 siblings sibling NNS cord-014712-5u4e00q6 1912 13 with with IN cord-014712-5u4e00q6 1912 14 immunologically immunologically RB cord-014712-5u4e00q6 1912 15 and and CC cord-014712-5u4e00q6 1912 16 clinically clinically RB cord-014712-5u4e00q6 1912 17 different different JJ cord-014712-5u4e00q6 1912 18 phenotypes phenotype NNS cord-014712-5u4e00q6 1912 19 of of IN cord-014712-5u4e00q6 1912 20 disease disease NN cord-014712-5u4e00q6 1912 21 presentation presentation NN cord-014712-5u4e00q6 1912 22 and and CC cord-014712-5u4e00q6 1912 23 to to TO cord-014712-5u4e00q6 1912 24 make make VB cord-014712-5u4e00q6 1912 25 an an DT cord-014712-5u4e00q6 1912 26 attempt attempt NN cord-014712-5u4e00q6 1912 27 to to TO cord-014712-5u4e00q6 1912 28 explain explain VB cord-014712-5u4e00q6 1912 29 possible possible JJ cord-014712-5u4e00q6 1912 30 genotype genotype NN cord-014712-5u4e00q6 1912 31 - - HYPH cord-014712-5u4e00q6 1912 32 phenotype phenotype NN cord-014712-5u4e00q6 1912 33 relation relation NN cord-014712-5u4e00q6 1912 34 . . . cord-014712-5u4e00q6 1913 1 The the DT cord-014712-5u4e00q6 1913 2 two two CD cord-014712-5u4e00q6 1913 3 patients patient NNS cord-014712-5u4e00q6 1913 4 and and CC cord-014712-5u4e00q6 1913 5 their -PRON- PRP$ cord-014712-5u4e00q6 1913 6 non non JJ cord-014712-5u4e00q6 1913 7 - - JJ cord-014712-5u4e00q6 1913 8 consanguineous consanguineous JJ cord-014712-5u4e00q6 1913 9 parents parent NNS cord-014712-5u4e00q6 1913 10 were be VBD cord-014712-5u4e00q6 1913 11 clinically clinically RB cord-014712-5u4e00q6 1913 12 , , , cord-014712-5u4e00q6 1913 13 laboratory laboratory NN cord-014712-5u4e00q6 1913 14 and and CC cord-014712-5u4e00q6 1913 15 genetically genetically RB cord-014712-5u4e00q6 1913 16 investigated investigate VBN cord-014712-5u4e00q6 1913 17 . . . cord-014712-5u4e00q6 1914 1 For for IN cord-014712-5u4e00q6 1914 2 mother mother NN cord-014712-5u4e00q6 1914 3 and and CC cord-014712-5u4e00q6 1914 4 father father NN cord-014712-5u4e00q6 1914 5 we -PRON- PRP cord-014712-5u4e00q6 1914 6 observed observe VBD cord-014712-5u4e00q6 1914 7 no no DT cord-014712-5u4e00q6 1914 8 clinical clinical JJ cord-014712-5u4e00q6 1914 9 presentation presentation NN cord-014712-5u4e00q6 1914 10 and and CC cord-014712-5u4e00q6 1914 11 no no DT cord-014712-5u4e00q6 1914 12 immunological immunological JJ cord-014712-5u4e00q6 1914 13 abnormalities abnormality NNS cord-014712-5u4e00q6 1914 14 . . . cord-014712-5u4e00q6 1915 1 Sibling sibling NN cord-014712-5u4e00q6 1915 2 no.1 no.1 NN cord-014712-5u4e00q6 1915 3 ( ( -LRB- cord-014712-5u4e00q6 1915 4 6 6 CD cord-014712-5u4e00q6 1915 5 years year NNS cord-014712-5u4e00q6 1915 6 old old JJ cord-014712-5u4e00q6 1915 7 boy boy NN cord-014712-5u4e00q6 1915 8 ) ) -RRB- cord-014712-5u4e00q6 1915 9 had have VBD cord-014712-5u4e00q6 1915 10 no no DT cord-014712-5u4e00q6 1915 11 history history NN cord-014712-5u4e00q6 1915 12 of of IN cord-014712-5u4e00q6 1915 13 recurrent recurrent JJ cord-014712-5u4e00q6 1915 14 infections infection NNS cord-014712-5u4e00q6 1915 15 and and CC cord-014712-5u4e00q6 1915 16 no no DT cord-014712-5u4e00q6 1915 17 deviation deviation NN cord-014712-5u4e00q6 1915 18 in in IN cord-014712-5u4e00q6 1915 19 immunological immunological JJ cord-014712-5u4e00q6 1915 20 tests test NNS cord-014712-5u4e00q6 1915 21 . . . cord-014712-5u4e00q6 1916 1 Sibling sibling NN cord-014712-5u4e00q6 1916 2 no.2 no.2 NN cord-014712-5u4e00q6 1916 3 . . . cord-014712-5u4e00q6 1917 1 ( ( -LRB- cord-014712-5u4e00q6 1917 2 6 6 CD cord-014712-5u4e00q6 1917 3 month month NN cord-014712-5u4e00q6 1917 4 old old JJ cord-014712-5u4e00q6 1917 5 girl girl NN cord-014712-5u4e00q6 1917 6 ) ) -RRB- cord-014712-5u4e00q6 1917 7 had have VBD cord-014712-5u4e00q6 1917 8 recurrent recurrent JJ cord-014712-5u4e00q6 1917 9 infections infection NNS cord-014712-5u4e00q6 1917 10 since since IN cord-014712-5u4e00q6 1917 11 birth birth NN cord-014712-5u4e00q6 1917 12 and and CC cord-014712-5u4e00q6 1917 13 IgA IgA NNP cord-014712-5u4e00q6 1917 14 , , , cord-014712-5u4e00q6 1917 15 IgG2 igg2 NN cord-014712-5u4e00q6 1917 16 and and CC cord-014712-5u4e00q6 1917 17 IgG4 igg4 JJ cord-014712-5u4e00q6 1917 18 deficiency deficiency NN cord-014712-5u4e00q6 1917 19 as as RB cord-014712-5u4e00q6 1917 20 well well RB cord-014712-5u4e00q6 1917 21 as as IN cord-014712-5u4e00q6 1917 22 T T NNP cord-014712-5u4e00q6 1917 23 - - HYPH cord-014712-5u4e00q6 1917 24 and and CC cord-014712-5u4e00q6 1917 25 B b NN cord-014712-5u4e00q6 1917 26 - - HYPH cord-014712-5u4e00q6 1917 27 cells cell NNS cord-014712-5u4e00q6 1917 28 deficiency deficiency NN cord-014712-5u4e00q6 1917 29 . . . cord-014712-5u4e00q6 1918 1 Cytogenetic cytogenetic JJ cord-014712-5u4e00q6 1918 2 analysis analysis NN cord-014712-5u4e00q6 1918 3 revealed reveal VBD cord-014712-5u4e00q6 1918 4 variable variable JJ cord-014712-5u4e00q6 1918 5 percent percent NN cord-014712-5u4e00q6 1918 6 of of IN cord-014712-5u4e00q6 1918 7 spontaneous spontaneous JJ cord-014712-5u4e00q6 1918 8 chromosomal chromosomal JJ cord-014712-5u4e00q6 1918 9 instability instability NN cord-014712-5u4e00q6 1918 10 which which WDT cord-014712-5u4e00q6 1918 11 was be VBD cord-014712-5u4e00q6 1918 12 more more RBR cord-014712-5u4e00q6 1918 13 severe severe JJ cord-014712-5u4e00q6 1918 14 ( ( -LRB- cord-014712-5u4e00q6 1918 15 in in IN cord-014712-5u4e00q6 1918 16 50 50 CD cord-014712-5u4e00q6 1918 17 % % NN cord-014712-5u4e00q6 1918 18 of of IN cord-014712-5u4e00q6 1918 19 chromosomes chromosome NNS cord-014712-5u4e00q6 1918 20 analyzed analyze VBN cord-014712-5u4e00q6 1918 21 ) ) -RRB- cord-014712-5u4e00q6 1918 22 in in IN cord-014712-5u4e00q6 1918 23 sibling sibling NN cord-014712-5u4e00q6 1918 24 no.2 no.2 NN cord-014712-5u4e00q6 1918 25 . . . cord-014712-5u4e00q6 1919 1 Additionally additionally RB cord-014712-5u4e00q6 1919 2 we -PRON- PRP cord-014712-5u4e00q6 1919 3 sequenced sequence VBD cord-014712-5u4e00q6 1919 4 bi bi NN cord-014712-5u4e00q6 1919 5 - - HYPH cord-014712-5u4e00q6 1919 6 directionally directionally RB cord-014712-5u4e00q6 1919 7 ( ( -LRB- cord-014712-5u4e00q6 1919 8 26 26 CD cord-014712-5u4e00q6 1919 9 amplicons amplicon NNS cord-014712-5u4e00q6 1919 10 ) ) -RRB- cord-014712-5u4e00q6 1920 1 the the DT cord-014712-5u4e00q6 1920 2 DNA dna NN cord-014712-5u4e00q6 1920 3 samples sample NNS cord-014712-5u4e00q6 1920 4 from from IN cord-014712-5u4e00q6 1920 5 all all DT cord-014712-5u4e00q6 1920 6 family family NN cord-014712-5u4e00q6 1920 7 members member NNS cord-014712-5u4e00q6 1920 8 to to TO cord-014712-5u4e00q6 1920 9 survey survey VB cord-014712-5u4e00q6 1920 10 the the DT cord-014712-5u4e00q6 1920 11 germline germline JJ cord-014712-5u4e00q6 1920 12 genetic genetic JJ cord-014712-5u4e00q6 1920 13 variation variation NN cord-014712-5u4e00q6 1920 14 in in IN cord-014712-5u4e00q6 1920 15 the the DT cord-014712-5u4e00q6 1920 16 NBS1gene NBS1gene NNP cord-014712-5u4e00q6 1920 17 . . . cord-014712-5u4e00q6 1921 1 The the DT cord-014712-5u4e00q6 1921 2 657del5 657del5 CD cord-014712-5u4e00q6 1921 3 ( ( -LRB- cord-014712-5u4e00q6 1921 4 exon exon NN cord-014712-5u4e00q6 1921 5 6 6 CD cord-014712-5u4e00q6 1921 6 ) ) -RRB- cord-014712-5u4e00q6 1921 7 was be VBD cord-014712-5u4e00q6 1921 8 detected detect VBN cord-014712-5u4e00q6 1921 9 in in IN cord-014712-5u4e00q6 1921 10 both both DT cord-014712-5u4e00q6 1921 11 siblings sibling NNS cord-014712-5u4e00q6 1921 12 in in IN cord-014712-5u4e00q6 1921 13 homozygous homozygous JJ cord-014712-5u4e00q6 1921 14 and and CC cord-014712-5u4e00q6 1921 15 in in IN cord-014712-5u4e00q6 1921 16 both both DT cord-014712-5u4e00q6 1921 17 parents parent NNS cord-014712-5u4e00q6 1921 18 in in IN cord-014712-5u4e00q6 1921 19 heterozygous heterozygous JJ cord-014712-5u4e00q6 1921 20 feature feature NN cord-014712-5u4e00q6 1921 21 . . . cord-014712-5u4e00q6 1922 1 In in IN cord-014712-5u4e00q6 1922 2 order order NN cord-014712-5u4e00q6 1922 3 to to TO cord-014712-5u4e00q6 1922 4 explain explain VB cord-014712-5u4e00q6 1922 5 different different JJ cord-014712-5u4e00q6 1922 6 clinical clinical JJ cord-014712-5u4e00q6 1922 7 and and CC cord-014712-5u4e00q6 1922 8 immunological immunological JJ cord-014712-5u4e00q6 1922 9 presentation presentation NN cord-014712-5u4e00q6 1922 10 of of IN cord-014712-5u4e00q6 1922 11 two two CD cord-014712-5u4e00q6 1922 12 siblings sibling NNS cord-014712-5u4e00q6 1922 13 the the DT cord-014712-5u4e00q6 1922 14 rest rest NN cord-014712-5u4e00q6 1922 15 of of IN cord-014712-5u4e00q6 1922 16 the the DT cord-014712-5u4e00q6 1922 17 NBS NBS NNP cord-014712-5u4e00q6 1922 18 exones exones NNPS cord-014712-5u4e00q6 1922 19 were be VBD cord-014712-5u4e00q6 1922 20 analyzed analyze VBN cord-014712-5u4e00q6 1922 21 for for IN cord-014712-5u4e00q6 1922 22 genetic genetic JJ cord-014712-5u4e00q6 1922 23 heterogeneity heterogeneity NN cord-014712-5u4e00q6 1922 24 . . . cord-014712-5u4e00q6 1923 1 No no DT cord-014712-5u4e00q6 1923 2 additional additional JJ cord-014712-5u4e00q6 1923 3 changes change NNS cord-014712-5u4e00q6 1923 4 were be VBD cord-014712-5u4e00q6 1923 5 observed observe VBN cord-014712-5u4e00q6 1923 6 . . . cord-014712-5u4e00q6 1924 1 In in IN cord-014712-5u4e00q6 1924 2 conclusion conclusion NN cord-014712-5u4e00q6 1924 3 patients patient NNS cord-014712-5u4e00q6 1924 4 with with IN cord-014712-5u4e00q6 1924 5 the the DT cord-014712-5u4e00q6 1924 6 same same JJ cord-014712-5u4e00q6 1924 7 NBS1 NBS1 NNP cord-014712-5u4e00q6 1924 8 genotype genotype NN cord-014712-5u4e00q6 1924 9 may may MD cord-014712-5u4e00q6 1924 10 show show VB cord-014712-5u4e00q6 1924 11 different different JJ cord-014712-5u4e00q6 1924 12 phenotypes phenotype NNS cord-014712-5u4e00q6 1924 13 . . . cord-014712-5u4e00q6 1925 1 Other other JJ cord-014712-5u4e00q6 1925 2 gene gene NN cord-014712-5u4e00q6 1925 3 / / SYM cord-014712-5u4e00q6 1925 4 epigenetic epigenetic JJ cord-014712-5u4e00q6 1925 5 factors factor NNS cord-014712-5u4e00q6 1925 6 seem seem VBP cord-014712-5u4e00q6 1925 7 to to TO cord-014712-5u4e00q6 1925 8 play play VB cord-014712-5u4e00q6 1925 9 a a DT cord-014712-5u4e00q6 1925 10 role role NN cord-014712-5u4e00q6 1925 11 in in IN cord-014712-5u4e00q6 1925 12 phenotype phenotype NN cord-014712-5u4e00q6 1925 13 modulation modulation NN cord-014712-5u4e00q6 1925 14 . . . cord-014712-5u4e00q6 1926 1 Omenn Omenn NNP cord-014712-5u4e00q6 1926 2 syndrome syndrome NN cord-014712-5u4e00q6 1927 1 [ [ -LRB- cord-014712-5u4e00q6 1927 2 Mendelian Mendelian NNP cord-014712-5u4e00q6 1927 3 Inheritance Inheritance NNP cord-014712-5u4e00q6 1927 4 ( ( -LRB- cord-014712-5u4e00q6 1927 5 OMIM OMIM NNP cord-014712-5u4e00q6 1927 6 603554 603554 CD cord-014712-5u4e00q6 1927 7 ) ) -RRB- cord-014712-5u4e00q6 1927 8 ] ] -RRB- cord-014712-5u4e00q6 1927 9 is be VBZ cord-014712-5u4e00q6 1927 10 an an DT cord-014712-5u4e00q6 1927 11 autosomal autosomal JJ cord-014712-5u4e00q6 1927 12 recessive recessive JJ cord-014712-5u4e00q6 1927 13 form form NN cord-014712-5u4e00q6 1927 14 characterized characterize VBN cord-014712-5u4e00q6 1927 15 by by IN cord-014712-5u4e00q6 1927 16 the the DT cord-014712-5u4e00q6 1927 17 presence presence NN cord-014712-5u4e00q6 1927 18 of of IN cord-014712-5u4e00q6 1927 19 fatal fatal JJ cord-014712-5u4e00q6 1927 20 generalized generalized JJ cord-014712-5u4e00q6 1927 21 severe severe JJ cord-014712-5u4e00q6 1927 22 erythroderma erythroderma NNS cord-014712-5u4e00q6 1927 23 , , , cord-014712-5u4e00q6 1927 24 lymphoadenopathy lymphoadenopathy NNP cord-014712-5u4e00q6 1927 25 , , , cord-014712-5u4e00q6 1927 26 eosinophilia eosinophilia NN cord-014712-5u4e00q6 1927 27 and and CC cord-014712-5u4e00q6 1927 28 profound profound JJ cord-014712-5u4e00q6 1927 29 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1927 30 . . . cord-014712-5u4e00q6 1928 1 Objective objective NN cord-014712-5u4e00q6 1928 2 : : : cord-014712-5u4e00q6 1929 1 We -PRON- PRP cord-014712-5u4e00q6 1929 2 studied study VBD cord-014712-5u4e00q6 1929 3 clinical clinical JJ cord-014712-5u4e00q6 1929 4 and and CC cord-014712-5u4e00q6 1929 5 immunological immunological JJ cord-014712-5u4e00q6 1929 6 presentation presentation NN cord-014712-5u4e00q6 1929 7 of of IN cord-014712-5u4e00q6 1929 8 the the DT cord-014712-5u4e00q6 1929 9 disease disease NN cord-014712-5u4e00q6 1929 10 manifestation manifestation NN cord-014712-5u4e00q6 1929 11 and and CC cord-014712-5u4e00q6 1929 12 frequency frequency NN cord-014712-5u4e00q6 1929 13 c.368 c.368 NNP cord-014712-5u4e00q6 1929 14 - - HYPH cord-014712-5u4e00q6 1929 15 369delAA 369delaa CD cord-014712-5u4e00q6 1930 1 ( ( -LRB- cord-014712-5u4e00q6 1930 2 p p NN cord-014712-5u4e00q6 1930 3 . . . cord-014712-5u4e00q6 1930 4 K86Vfs118 K86Vfs118 NNP cord-014712-5u4e00q6 1930 5 ) ) -RRB- cord-014712-5u4e00q6 1930 6 in in IN cord-014712-5u4e00q6 1930 7 RAG1 RAG1 NNP cord-014712-5u4e00q6 1930 8 gene gene NN cord-014712-5u4e00q6 1930 9 among among IN cord-014712-5u4e00q6 1930 10 Eastern Eastern NNP cord-014712-5u4e00q6 1930 11 Slavs Slavs NNPS cord-014712-5u4e00q6 1930 12 population population NN cord-014712-5u4e00q6 1930 13 . . . cord-014712-5u4e00q6 1931 1 Results result NNS cord-014712-5u4e00q6 1931 2 : : : cord-014712-5u4e00q6 1932 1 We -PRON- PRP cord-014712-5u4e00q6 1932 2 collected collect VBD cord-014712-5u4e00q6 1932 3 clinical clinical JJ cord-014712-5u4e00q6 1932 4 and and CC cord-014712-5u4e00q6 1932 5 immunological immunological JJ cord-014712-5u4e00q6 1932 6 data datum NNS cord-014712-5u4e00q6 1932 7 of of IN cord-014712-5u4e00q6 1932 8 9 9 CD cord-014712-5u4e00q6 1932 9 patients patient NNS cord-014712-5u4e00q6 1932 10 ( ( -LRB- cord-014712-5u4e00q6 1932 11 1 1 CD cord-014712-5u4e00q6 1932 12 from from IN cord-014712-5u4e00q6 1932 13 Belarus Belarus NNP cord-014712-5u4e00q6 1932 14 , , , cord-014712-5u4e00q6 1932 15 5 5 CD cord-014712-5u4e00q6 1932 16 -Ukraine -ukraine DT cord-014712-5u4e00q6 1932 17 , , , cord-014712-5u4e00q6 1932 18 3 3 CD cord-014712-5u4e00q6 1932 19 -Russia -Russia JJS cord-014712-5u4e00q6 1932 20 ) ) -RRB- cord-014712-5u4e00q6 1932 21 6 6 CD cord-014712-5u4e00q6 1932 22 females female NNS cord-014712-5u4e00q6 1932 23 , , , cord-014712-5u4e00q6 1932 24 3 3 CD cord-014712-5u4e00q6 1932 25 males male NNS cord-014712-5u4e00q6 1932 26 . . . cord-014712-5u4e00q6 1933 1 Age age NN cord-014712-5u4e00q6 1933 2 of of IN cord-014712-5u4e00q6 1933 3 Omenn Omenn NNP cord-014712-5u4e00q6 1933 4 syndrome syndrome NN cord-014712-5u4e00q6 1933 5 manifestation manifestation NN cord-014712-5u4e00q6 1933 6 varied vary VBN cord-014712-5u4e00q6 1933 7 from from IN cord-014712-5u4e00q6 1933 8 1 1 CD cord-014712-5u4e00q6 1933 9 st st NNP cord-014712-5u4e00q6 1933 10 day day NNP cord-014712-5u4e00q6 1933 11 of of IN cord-014712-5u4e00q6 1933 12 life life NN cord-014712-5u4e00q6 1933 13 to to IN cord-014712-5u4e00q6 1933 14 1 1 CD cord-014712-5u4e00q6 1933 15 yr yr NN cord-014712-5u4e00q6 1933 16 1 1 CD cord-014712-5u4e00q6 1933 17 month month NN cord-014712-5u4e00q6 1933 18 . . . cord-014712-5u4e00q6 1934 1 Age age NN cord-014712-5u4e00q6 1934 2 of of IN cord-014712-5u4e00q6 1934 3 diagnosis diagnosis NN cord-014712-5u4e00q6 1934 4 -20 -20 CD cord-014712-5u4e00q6 1934 5 days day NNS cord-014712-5u4e00q6 1934 6 to to IN cord-014712-5u4e00q6 1934 7 1 1 CD cord-014712-5u4e00q6 1934 8 year year NN cord-014712-5u4e00q6 1934 9 10 10 CD cord-014712-5u4e00q6 1934 10 months month NNS cord-014712-5u4e00q6 1934 11 . . . cord-014712-5u4e00q6 1935 1 8 8 CD cord-014712-5u4e00q6 1935 2 in in IN cord-014712-5u4e00q6 1935 3 9 9 CD cord-014712-5u4e00q6 1935 4 patients patient NNS cord-014712-5u4e00q6 1935 5 had have VBD cord-014712-5u4e00q6 1935 6 classical classical JJ cord-014712-5u4e00q6 1935 7 immunological immunological JJ cord-014712-5u4e00q6 1935 8 phenotype phenotype NN cord-014712-5u4e00q6 1936 1 T(+/-)B- T(+/-)B- NNS cord-014712-5u4e00q6 1937 1 NK+ NK+ NNP cord-014712-5u4e00q6 1938 1 , , , cord-014712-5u4e00q6 1938 2 1 1 CD cord-014712-5u4e00q6 1938 3 pt pt NN cord-014712-5u4e00q6 1938 4 had have VBD cord-014712-5u4e00q6 1938 5 TlowB TlowB NNP cord-014712-5u4e00q6 1938 6 + + CC cord-014712-5u4e00q6 1938 7 NK nk NN cord-014712-5u4e00q6 1939 1 + + CC cord-014712-5u4e00q6 1939 2 with with IN cord-014712-5u4e00q6 1939 3 CD3 CD3 NNP cord-014712-5u4e00q6 1940 1 + + CC cord-014712-5u4e00q6 1941 1 TCRgd tcrgd DT cord-014712-5u4e00q6 1941 2 + + CC cord-014712-5u4e00q6 1941 3 expansion expansion NN cord-014712-5u4e00q6 1941 4 . . . cord-014712-5u4e00q6 1942 1 6 6 CD cord-014712-5u4e00q6 1942 2 in in IN cord-014712-5u4e00q6 1942 3 9 9 CD cord-014712-5u4e00q6 1942 4 pts pt NNS cord-014712-5u4e00q6 1942 5 had have VBD cord-014712-5u4e00q6 1942 6 mutation mutation NN cord-014712-5u4e00q6 1942 7 in in IN cord-014712-5u4e00q6 1942 8 RAG1 RAG1 NNP cord-014712-5u4e00q6 1942 9 gene gene NN cord-014712-5u4e00q6 1942 10 , , , cord-014712-5u4e00q6 1942 11 4 4 CD cord-014712-5u4e00q6 1942 12 in in IN cord-014712-5u4e00q6 1942 13 6 6 CD cord-014712-5u4e00q6 1942 14 had have VBD cord-014712-5u4e00q6 1942 15 c.368 c.368 NNP cord-014712-5u4e00q6 1942 16 - - HYPH cord-014712-5u4e00q6 1942 17 369delAA 369delaa CD cord-014712-5u4e00q6 1943 1 ( ( -LRB- cord-014712-5u4e00q6 1943 2 p p NN cord-014712-5u4e00q6 1943 3 . . . cord-014712-5u4e00q6 1943 4 K86Vfs118 K86Vfs118 NNP cord-014712-5u4e00q6 1943 5 ) ) -RRB- cord-014712-5u4e00q6 1943 6 in in IN cord-014712-5u4e00q6 1943 7 one one CD cord-014712-5u4e00q6 1943 8 or or CC cord-014712-5u4e00q6 1943 9 two two CD cord-014712-5u4e00q6 1943 10 alleles allele NNS cord-014712-5u4e00q6 1943 11 . . . cord-014712-5u4e00q6 1944 1 At at IN cord-014712-5u4e00q6 1944 2 present present JJ cord-014712-5u4e00q6 1944 3 moment moment NN cord-014712-5u4e00q6 1944 4 4 4 CD cord-014712-5u4e00q6 1944 5 in in IN cord-014712-5u4e00q6 1944 6 9 9 CD cord-014712-5u4e00q6 1944 7 pts pt NNS cord-014712-5u4e00q6 1944 8 are be VBP cord-014712-5u4e00q6 1944 9 alive alive JJ cord-014712-5u4e00q6 1944 10 , , , cord-014712-5u4e00q6 1944 11 3 3 CD cord-014712-5u4e00q6 1944 12 were be VBD cord-014712-5u4e00q6 1944 13 transplanted transplant VBN cord-014712-5u4e00q6 1944 14 , , , cord-014712-5u4e00q6 1944 15 1 1 CD cord-014712-5u4e00q6 1944 16 pt pt NN cord-014712-5u4e00q6 1944 17 is be VBZ cord-014712-5u4e00q6 1944 18 prepared prepared JJ cord-014712-5u4e00q6 1944 19 to to IN cord-014712-5u4e00q6 1944 20 BMT BMT NNP cord-014712-5u4e00q6 1944 21 . . . cord-014712-5u4e00q6 1945 1 Conclusion conclusion NN cord-014712-5u4e00q6 1945 2 : : : cord-014712-5u4e00q6 1946 1 This this DT cord-014712-5u4e00q6 1946 2 study study NN cord-014712-5u4e00q6 1946 3 demonstrates demonstrate VBZ cord-014712-5u4e00q6 1946 4 that that IN cord-014712-5u4e00q6 1946 5 the the DT cord-014712-5u4e00q6 1946 6 most most RBS cord-014712-5u4e00q6 1946 7 popular popular JJ cord-014712-5u4e00q6 1946 8 genetic genetic JJ cord-014712-5u4e00q6 1946 9 abnormalities abnormality NNS cord-014712-5u4e00q6 1946 10 in in IN cord-014712-5u4e00q6 1946 11 Eastern eastern JJ cord-014712-5u4e00q6 1946 12 Slavs Slavs NNPS cord-014712-5u4e00q6 1946 13 children child NNS cord-014712-5u4e00q6 1946 14 with with IN cord-014712-5u4e00q6 1946 15 Omenn Omenn NNP cord-014712-5u4e00q6 1946 16 syndrome syndrome NN cord-014712-5u4e00q6 1946 17 is be VBZ cord-014712-5u4e00q6 1946 18 c.368 c.368 NNP cord-014712-5u4e00q6 1946 19 - - : cord-014712-5u4e00q6 1946 20 369delAA 369delaa CD cord-014712-5u4e00q6 1947 1 ( ( -LRB- cord-014712-5u4e00q6 1947 2 p p NN cord-014712-5u4e00q6 1947 3 . . . cord-014712-5u4e00q6 1947 4 K86Vfs118 K86Vfs118 NNP cord-014712-5u4e00q6 1947 5 ) ) -RRB- cord-014712-5u4e00q6 1947 6 in in IN cord-014712-5u4e00q6 1947 7 RAG1 RAG1 NNP cord-014712-5u4e00q6 1947 8 gene gene NN cord-014712-5u4e00q6 1947 9 . . . cord-014712-5u4e00q6 1948 1 This this DT cord-014712-5u4e00q6 1948 2 information information NN cord-014712-5u4e00q6 1948 3 may may MD cord-014712-5u4e00q6 1948 4 be be VB cord-014712-5u4e00q6 1948 5 useful useful JJ cord-014712-5u4e00q6 1948 6 for for IN cord-014712-5u4e00q6 1948 7 rapid rapid JJ cord-014712-5u4e00q6 1948 8 diagnostic diagnostic NN cord-014712-5u4e00q6 1948 9 of of IN cord-014712-5u4e00q6 1948 10 Omenn Omenn NNP cord-014712-5u4e00q6 1948 11 syndrome syndrome NN cord-014712-5u4e00q6 1948 12 in in IN cord-014712-5u4e00q6 1948 13 laboratories laboratory NNS cord-014712-5u4e00q6 1948 14 used use VBD cord-014712-5u4e00q6 1948 15 SSCP SSCP NNP cord-014712-5u4e00q6 1948 16 ( ( -LRB- cord-014712-5u4e00q6 1948 17 single single JJ cord-014712-5u4e00q6 1948 18 strand strand NN cord-014712-5u4e00q6 1948 19 conformation conformation NN cord-014712-5u4e00q6 1948 20 polymorphism polymorphism NN cord-014712-5u4e00q6 1948 21 ) ) -RRB- cord-014712-5u4e00q6 1948 22 before before IN cord-014712-5u4e00q6 1948 23 sequencing sequencing NN cord-014712-5u4e00q6 1948 24 . . . cord-014712-5u4e00q6 1949 1 Under under IN cord-014712-5u4e00q6 1949 2 examination examination NN cord-014712-5u4e00q6 1949 3 the the DT cord-014712-5u4e00q6 1949 4 patient patient NN cord-014712-5u4e00q6 1949 5 particularly particularly RB cord-014712-5u4e00q6 1949 6 bright bright JJ cord-014712-5u4e00q6 1949 7 phenotype phenotype NN cord-014712-5u4e00q6 1949 8 attracted attract VBD cord-014712-5u4e00q6 1949 9 attention attention NN cord-014712-5u4e00q6 1949 10 : : : cord-014712-5u4e00q6 1949 11 microcephaly microcephaly NNS cord-014712-5u4e00q6 1949 12 , , , cord-014712-5u4e00q6 1949 13 " " `` cord-014712-5u4e00q6 1949 14 birdlike birdlike JJ cord-014712-5u4e00q6 1949 15 " " '' cord-014712-5u4e00q6 1949 16 facial facial JJ cord-014712-5u4e00q6 1949 17 features feature NNS cord-014712-5u4e00q6 1949 18 ( ( -LRB- cord-014712-5u4e00q6 1949 19 sloping slope VBG cord-014712-5u4e00q6 1949 20 forehead forehead NN cord-014712-5u4e00q6 1949 21 , , , cord-014712-5u4e00q6 1949 22 nape nape NN cord-014712-5u4e00q6 1949 23 , , , cord-014712-5u4e00q6 1949 24 hypoplasia hypoplasia NN cord-014712-5u4e00q6 1949 25 of of IN cord-014712-5u4e00q6 1949 26 brow brow NN cord-014712-5u4e00q6 1949 27 ridges ridge NNS cord-014712-5u4e00q6 1949 28 , , , cord-014712-5u4e00q6 1949 29 broad broad JJ cord-014712-5u4e00q6 1949 30 nasal nasal NN cord-014712-5u4e00q6 1949 31 bridge bridge NN cord-014712-5u4e00q6 1949 32 and and CC cord-014712-5u4e00q6 1949 33 protruding protruding JJ cord-014712-5u4e00q6 1949 34 midface midface NN cord-014712-5u4e00q6 1949 35 , , , cord-014712-5u4e00q6 1949 36 hypoplasia hypoplasia NN cord-014712-5u4e00q6 1949 37 of of IN cord-014712-5u4e00q6 1949 38 the the DT cord-014712-5u4e00q6 1949 39 mandible mandible NN cord-014712-5u4e00q6 1949 40 ) ) -RRB- cord-014712-5u4e00q6 1949 41 . . . cord-014712-5u4e00q6 1950 1 In in IN cord-014712-5u4e00q6 1950 2 addition addition NN cord-014712-5u4e00q6 1950 3 , , , cord-014712-5u4e00q6 1950 4 besides besides IN cord-014712-5u4e00q6 1950 5 specific specific JJ cord-014712-5u4e00q6 1950 6 anomaly anomaly NN cord-014712-5u4e00q6 1950 7 of of IN cord-014712-5u4e00q6 1950 8 the the DT cord-014712-5u4e00q6 1950 9 facial facial JJ cord-014712-5u4e00q6 1950 10 bones bone NNS cord-014712-5u4e00q6 1950 11 we -PRON- PRP cord-014712-5u4e00q6 1950 12 noted note VBD cord-014712-5u4e00q6 1950 13 : : : cord-014712-5u4e00q6 1950 14 big big JJ cord-014712-5u4e00q6 1950 15 ears ear NNS cord-014712-5u4e00q6 1950 16 , , , cord-014712-5u4e00q6 1950 17 sparse sparse JJ cord-014712-5u4e00q6 1950 18 hair hair NN cord-014712-5u4e00q6 1950 19 and and CC cord-014712-5u4e00q6 1950 20 clinodactyly clinodactyly NN cord-014712-5u4e00q6 1950 21 of of IN cord-014712-5u4e00q6 1950 22 the the DT cord-014712-5u4e00q6 1950 23 fifth fifth JJ cord-014712-5u4e00q6 1950 24 fingers finger NNS cord-014712-5u4e00q6 1950 25 . . . cord-014712-5u4e00q6 1951 1 Clinical clinical JJ cord-014712-5u4e00q6 1951 2 and and CC cord-014712-5u4e00q6 1951 3 immunological immunological JJ cord-014712-5u4e00q6 1951 4 characteristics characteristic NNS cord-014712-5u4e00q6 1951 5 : : : cord-014712-5u4e00q6 1951 6 The the DT cord-014712-5u4e00q6 1951 7 feature feature NN cord-014712-5u4e00q6 1951 8 of of IN cord-014712-5u4e00q6 1951 9 the the DT cord-014712-5u4e00q6 1951 10 case case NN cord-014712-5u4e00q6 1951 11 is be VBZ cord-014712-5u4e00q6 1951 12 pancytopenia pancytopenia NNP cord-014712-5u4e00q6 1951 13 syndrome syndrome NN cord-014712-5u4e00q6 1951 14 we -PRON- PRP cord-014712-5u4e00q6 1951 15 have have VBP cord-014712-5u4e00q6 1951 16 diagnosed diagnose VBN cord-014712-5u4e00q6 1951 17 at at IN cord-014712-5u4e00q6 1951 18 the the DT cord-014712-5u4e00q6 1951 19 early early JJ cord-014712-5u4e00q6 1951 20 stages stage NNS cord-014712-5u4e00q6 1951 21 of of IN cord-014712-5u4e00q6 1951 22 observation observation NN cord-014712-5u4e00q6 1951 23 and and CC cord-014712-5u4e00q6 1951 24 which which WDT cord-014712-5u4e00q6 1951 25 is be VBZ cord-014712-5u4e00q6 1951 26 continued continue VBN cord-014712-5u4e00q6 1951 27 throughout throughout IN cord-014712-5u4e00q6 1951 28 the the DT cord-014712-5u4e00q6 1951 29 period period NN cord-014712-5u4e00q6 1951 30 of of IN cord-014712-5u4e00q6 1951 31 observation observation NN cord-014712-5u4e00q6 1951 32 . . . cord-014712-5u4e00q6 1952 1 Erc Erc NNP cord-014712-5u4e00q6 1952 2 -2.9 -2.9 NNP cord-014712-5u4e00q6 1952 3 - - HYPH cord-014712-5u4e00q6 1952 4 3.6 3.6 CD cord-014712-5u4e00q6 1952 5 x x SYM cord-014712-5u4e00q6 1952 6 10 10 CD cord-014712-5u4e00q6 1952 7 12 12 CD cord-014712-5u4e00q6 1953 1 /l /l NNP cord-014712-5u4e00q6 1954 1 Hb Hb NNP cord-014712-5u4e00q6 1954 2 -71 -71 NNP cord-014712-5u4e00q6 1955 1 -105 -105 NNP cord-014712-5u4e00q6 1955 2 g g NNP cord-014712-5u4e00q6 1955 3 / / SYM cord-014712-5u4e00q6 1955 4 l l NNP cord-014712-5u4e00q6 1955 5 Leuk Leuk NNP cord-014712-5u4e00q6 1955 6 -0.5 -0.5 NNP cord-014712-5u4e00q6 1955 7 - - HYPH cord-014712-5u4e00q6 1955 8 3.0 3.0 NNP cord-014712-5u4e00q6 1955 9 x x SYM cord-014712-5u4e00q6 1955 10 10 10 CD cord-014712-5u4e00q6 1955 11 9 9 CD cord-014712-5u4e00q6 1955 12 /l /l NN cord-014712-5u4e00q6 1956 1 Neu Neu NNP cord-014712-5u4e00q6 1957 1 -10 -10 NNP cord-014712-5u4e00q6 1957 2 - - SYM cord-014712-5u4e00q6 1957 3 26 26 CD cord-014712-5u4e00q6 1957 4 % % NN cord-014712-5u4e00q6 1957 5 ( ( -LRB- cord-014712-5u4e00q6 1957 6 300 300 CD cord-014712-5u4e00q6 1957 7 - - SYM cord-014712-5u4e00q6 1957 8 780 780 CD cord-014712-5u4e00q6 1957 9 cells cell NNS cord-014712-5u4e00q6 1957 10 / / SYM cord-014712-5u4e00q6 1957 11 mcl mcl NN cord-014712-5u4e00q6 1957 12 ) ) -RRB- cord-014712-5u4e00q6 1958 1 PLT PLT NNP cord-014712-5u4e00q6 1958 2 -40 -40 NNP cord-014712-5u4e00q6 1958 3 - - HYPH cord-014712-5u4e00q6 1958 4 60 60 CD cord-014712-5u4e00q6 1958 5 x x SYM cord-014712-5u4e00q6 1958 6 10 10 CD cord-014712-5u4e00q6 1958 7 9 9 CD cord-014712-5u4e00q6 1959 1 /l /l NNP cord-014712-5u4e00q6 1959 2 Data Data NNP cord-014712-5u4e00q6 1959 3 of of IN cord-014712-5u4e00q6 1959 4 immunological immunological JJ cord-014712-5u4e00q6 1959 5 examination examination NN cord-014712-5u4e00q6 1959 6 : : : cord-014712-5u4e00q6 1959 7 IgA IgA NNP cord-014712-5u4e00q6 1959 8 -0,06 -0,06 . cord-014712-5u4e00q6 1960 1 g g NNP cord-014712-5u4e00q6 1960 2 / / SYM cord-014712-5u4e00q6 1960 3 l l NNP cord-014712-5u4e00q6 1960 4 IgM IgM NNP cord-014712-5u4e00q6 1960 5 -0,6 -0,6 NNP cord-014712-5u4e00q6 1961 1 g g NNP cord-014712-5u4e00q6 1961 2 / / SYM cord-014712-5u4e00q6 1961 3 l l NNP cord-014712-5u4e00q6 1961 4 IgG IgG NNP cord-014712-5u4e00q6 1961 5 -0,75 -0,75 : cord-014712-5u4e00q6 1961 6 g g NNP cord-014712-5u4e00q6 1961 7 / / SYM cord-014712-5u4e00q6 1961 8 l l NN cord-014712-5u4e00q6 1961 9 ( ( -LRB- cord-014712-5u4e00q6 1961 10 Other other JJ cord-014712-5u4e00q6 1961 11 results result NNS cord-014712-5u4e00q6 1961 12 of of IN cord-014712-5u4e00q6 1961 13 immunological immunological JJ cord-014712-5u4e00q6 1961 14 examination examination NN cord-014712-5u4e00q6 1961 15 are be VBP cord-014712-5u4e00q6 1961 16 without without IN cord-014712-5u4e00q6 1961 17 features feature NNS cord-014712-5u4e00q6 1961 18 ) ) -RRB- cord-014712-5u4e00q6 1962 1 The the DT cord-014712-5u4e00q6 1962 2 deep deep JJ cord-014712-5u4e00q6 1962 3 insufficiency insufficiency NN cord-014712-5u4e00q6 1962 4 of of IN cord-014712-5u4e00q6 1962 5 antibody antibody NN cord-014712-5u4e00q6 1962 6 production production NN cord-014712-5u4e00q6 1962 7 in in IN cord-014712-5u4e00q6 1962 8 our -PRON- PRP$ cord-014712-5u4e00q6 1962 9 patient patient NN cord-014712-5u4e00q6 1962 10 was be VBD cord-014712-5u4e00q6 1962 11 the the DT cord-014712-5u4e00q6 1962 12 cause cause NN cord-014712-5u4e00q6 1962 13 of of IN cord-014712-5u4e00q6 1962 14 serious serious JJ cord-014712-5u4e00q6 1962 15 , , , cord-014712-5u4e00q6 1962 16 recurrent recurrent JJ cord-014712-5u4e00q6 1962 17 , , , cord-014712-5u4e00q6 1962 18 and and CC cord-014712-5u4e00q6 1962 19 subsequently subsequently RB cord-014712-5u4e00q6 1962 20 chronic chronic JJ cord-014712-5u4e00q6 1962 21 bacterial bacterial JJ cord-014712-5u4e00q6 1962 22 sinopulmonary sinopulmonary JJ cord-014712-5u4e00q6 1962 23 infections infection NNS cord-014712-5u4e00q6 1962 24 after after IN cord-014712-5u4e00q6 1962 25 3 3 CD cord-014712-5u4e00q6 1962 26 years year NNS cord-014712-5u4e00q6 1962 27 old old JJ cord-014712-5u4e00q6 1962 28 . . . cord-014712-5u4e00q6 1963 1 The the DT cord-014712-5u4e00q6 1963 2 results result NNS cord-014712-5u4e00q6 1963 3 of of IN cord-014712-5u4e00q6 1963 4 clinical clinical JJ cord-014712-5u4e00q6 1963 5 laboratory laboratory NN cord-014712-5u4e00q6 1963 6 and and CC cord-014712-5u4e00q6 1963 7 immunological immunological JJ cord-014712-5u4e00q6 1963 8 examination examination NN cord-014712-5u4e00q6 1963 9 without without IN cord-014712-5u4e00q6 1963 10 significant significant JJ cord-014712-5u4e00q6 1963 11 features feature NNS cord-014712-5u4e00q6 1963 12 : : : cord-014712-5u4e00q6 1963 13 Erc Erc NNP cord-014712-5u4e00q6 1963 14 -4,0 -4,0 JJS cord-014712-5u4e00q6 1963 15 - - HYPH cord-014712-5u4e00q6 1963 16 5,4 5,4 CD cord-014712-5u4e00q6 1964 1 x x LS cord-014712-5u4e00q6 1964 2 10 10 CD cord-014712-5u4e00q6 1964 3 12 12 CD cord-014712-5u4e00q6 1965 1 /l /l NNP cord-014712-5u4e00q6 1966 1 Hb Hb NNP cord-014712-5u4e00q6 1966 2 -121 -121 NN cord-014712-5u4e00q6 1966 3 - - HYPH cord-014712-5u4e00q6 1966 4 133 133 CD cord-014712-5u4e00q6 1966 5 g g NN cord-014712-5u4e00q6 1966 6 / / SYM cord-014712-5u4e00q6 1966 7 l l NNP cord-014712-5u4e00q6 1966 8 Leuk Leuk NNP cord-014712-5u4e00q6 1966 9 -11,5 -11,5 NNP cord-014712-5u4e00q6 1966 10 - - HYPH cord-014712-5u4e00q6 1966 11 6,2 6,2 CD cord-014712-5u4e00q6 1967 1 x x SYM cord-014712-5u4e00q6 1967 2 10 10 CD cord-014712-5u4e00q6 1967 3 9 9 CD cord-014712-5u4e00q6 1968 1 /l /l NNP cord-014712-5u4e00q6 1968 2 Neu Neu NNP cord-014712-5u4e00q6 1969 1 -40 -40 NNP cord-014712-5u4e00q6 1969 2 - - HYPH cord-014712-5u4e00q6 1969 3 70 70 CD cord-014712-5u4e00q6 1969 4 % % NN cord-014712-5u4e00q6 1969 5 ( ( -LRB- cord-014712-5u4e00q6 1969 6 2640 2640 CD cord-014712-5u4e00q6 1969 7 - - SYM cord-014712-5u4e00q6 1969 8 11680 11680 CD cord-014712-5u4e00q6 1969 9 cells/ cells/ CD cord-014712-5u4e00q6 1969 10 mcl mcl NN cord-014712-5u4e00q6 1969 11 ) ) -RRB- cord-014712-5u4e00q6 1970 1 PLT PLT NNP cord-014712-5u4e00q6 1970 2 -512 -512 NNP cord-014712-5u4e00q6 1971 1 x x LS cord-014712-5u4e00q6 1972 1 10 10 CD cord-014712-5u4e00q6 1972 2 9 9 CD cord-014712-5u4e00q6 1972 3 /l /l NNP cord-014712-5u4e00q6 1972 4 IgA IgA NNP cord-014712-5u4e00q6 1972 5 -0,85 -0,85 : cord-014712-5u4e00q6 1972 6 g g NNP cord-014712-5u4e00q6 1972 7 / / SYM cord-014712-5u4e00q6 1972 8 l l NN cord-014712-5u4e00q6 1972 9 -1.45 -1.45 CD cord-014712-5u4e00q6 1972 10 g g NNP cord-014712-5u4e00q6 1972 11 / / SYM cord-014712-5u4e00q6 1972 12 l l NNP cord-014712-5u4e00q6 1972 13 IgM IgM NNP cord-014712-5u4e00q6 1972 14 -1,33 -1,33 HYPH cord-014712-5u4e00q6 1972 15 g g NNP cord-014712-5u4e00q6 1972 16 / / SYM cord-014712-5u4e00q6 1972 17 l l NN cord-014712-5u4e00q6 1972 18 -0.66 -0.66 NNP cord-014712-5u4e00q6 1972 19 g g NNP cord-014712-5u4e00q6 1972 20 / / SYM cord-014712-5u4e00q6 1972 21 l l NNP cord-014712-5u4e00q6 1972 22 IgG IgG NNP cord-014712-5u4e00q6 1972 23 -11,3 -11,3 . cord-014712-5u4e00q6 1972 24 g g NNP cord-014712-5u4e00q6 1972 25 / / SYM cord-014712-5u4e00q6 1972 26 l l NN cord-014712-5u4e00q6 1972 27 -11.8 -11.8 NNP cord-014712-5u4e00q6 1972 28 g g NNP cord-014712-5u4e00q6 1972 29 / / SYM cord-014712-5u4e00q6 1972 30 l l NN cord-014712-5u4e00q6 1972 31 ( ( -LRB- cord-014712-5u4e00q6 1972 32 Other other JJ cord-014712-5u4e00q6 1972 33 results result NNS cord-014712-5u4e00q6 1972 34 of of IN cord-014712-5u4e00q6 1972 35 immunological immunological JJ cord-014712-5u4e00q6 1972 36 examination examination NN cord-014712-5u4e00q6 1972 37 are be VBP cord-014712-5u4e00q6 1972 38 without without IN cord-014712-5u4e00q6 1972 39 features feature NNS cord-014712-5u4e00q6 1972 40 ) ) -RRB- cord-014712-5u4e00q6 1973 1 The the DT cord-014712-5u4e00q6 1973 2 X x NN cord-014712-5u4e00q6 1973 3 - - HYPH cord-014712-5u4e00q6 1973 4 linked link VBN cord-014712-5u4e00q6 1973 5 chronic chronic JJ cord-014712-5u4e00q6 1973 6 granulomatous granulomatous JJ cord-014712-5u4e00q6 1973 7 disease disease NN cord-014712-5u4e00q6 1973 8 ( ( -LRB- cord-014712-5u4e00q6 1973 9 CGD CGD NNP cord-014712-5u4e00q6 1973 10 ) ) -RRB- cord-014712-5u4e00q6 1973 11 is be VBZ cord-014712-5u4e00q6 1973 12 a a DT cord-014712-5u4e00q6 1973 13 primary primary JJ cord-014712-5u4e00q6 1973 14 phagocytic phagocytic JJ cord-014712-5u4e00q6 1973 15 cell cell NN cord-014712-5u4e00q6 1973 16 deficiency deficiency NN cord-014712-5u4e00q6 1973 17 characterized characterize VBN cord-014712-5u4e00q6 1973 18 by by IN cord-014712-5u4e00q6 1973 19 severe severe JJ cord-014712-5u4e00q6 1973 20 bacterial bacterial JJ cord-014712-5u4e00q6 1973 21 and and CC cord-014712-5u4e00q6 1973 22 fungal fungal JJ cord-014712-5u4e00q6 1973 23 infections infection NNS cord-014712-5u4e00q6 1973 24 of of IN cord-014712-5u4e00q6 1973 25 various various JJ cord-014712-5u4e00q6 1973 26 organs organ NNS cord-014712-5u4e00q6 1973 27 . . . cord-014712-5u4e00q6 1974 1 We -PRON- PRP cord-014712-5u4e00q6 1974 2 report report VBP cord-014712-5u4e00q6 1974 3 of of IN cord-014712-5u4e00q6 1974 4 a a DT cord-014712-5u4e00q6 1974 5 19 19 CD cord-014712-5u4e00q6 1974 6 years year NNS cord-014712-5u4e00q6 1974 7 of of IN cord-014712-5u4e00q6 1974 8 a a DT cord-014712-5u4e00q6 1974 9 male male JJ cord-014712-5u4e00q6 1974 10 patient patient NN cord-014712-5u4e00q6 1974 11 with with IN cord-014712-5u4e00q6 1974 12 Xlinked Xlinked NNP cord-014712-5u4e00q6 1974 13 CGD CGD NNP cord-014712-5u4e00q6 1974 14 who who WP cord-014712-5u4e00q6 1974 15 presented present VBD cord-014712-5u4e00q6 1974 16 with with IN cord-014712-5u4e00q6 1974 17 recurrent recurrent JJ cord-014712-5u4e00q6 1974 18 hepatic hepatic JJ cord-014712-5u4e00q6 1974 19 abscesses abscess NNS cord-014712-5u4e00q6 1974 20 as as IN cord-014712-5u4e00q6 1974 21 the the DT cord-014712-5u4e00q6 1974 22 sole sole JJ cord-014712-5u4e00q6 1974 23 manifestation manifestation NN cord-014712-5u4e00q6 1974 24 of of IN cord-014712-5u4e00q6 1974 25 the the DT cord-014712-5u4e00q6 1974 26 disease disease NN cord-014712-5u4e00q6 1974 27 . . . cord-014712-5u4e00q6 1975 1 Phagocytic phagocytic JJ cord-014712-5u4e00q6 1975 2 and and CC cord-014712-5u4e00q6 1975 3 bactericidal bactericidal JJ cord-014712-5u4e00q6 1975 4 activities activity NNS cord-014712-5u4e00q6 1975 5 of of IN cord-014712-5u4e00q6 1975 6 granulocytes granulocyte NNS cord-014712-5u4e00q6 1975 7 were be VBD cord-014712-5u4e00q6 1975 8 studied study VBN cord-014712-5u4e00q6 1975 9 by by IN cord-014712-5u4e00q6 1975 10 using use VBG cord-014712-5u4e00q6 1975 11 microbiological microbiological JJ cord-014712-5u4e00q6 1975 12 assays assay NNS cord-014712-5u4e00q6 1975 13 . . . cord-014712-5u4e00q6 1976 1 Generation generation NN cord-014712-5u4e00q6 1976 2 of of IN cord-014712-5u4e00q6 1976 3 superoxide superoxide NN cord-014712-5u4e00q6 1976 4 anion anion NN cord-014712-5u4e00q6 1976 5 by by IN cord-014712-5u4e00q6 1976 6 blood blood NN cord-014712-5u4e00q6 1976 7 granulocytes granulocyte NNS cord-014712-5u4e00q6 1976 8 was be VBD cord-014712-5u4e00q6 1976 9 measured measure VBN cord-014712-5u4e00q6 1976 10 by by IN cord-014712-5u4e00q6 1976 11 the the DT cord-014712-5u4e00q6 1976 12 ferricytochrome ferricytochrome NNP cord-014712-5u4e00q6 1976 13 c c NNP cord-014712-5u4e00q6 1976 14 reduction reduction NN cord-014712-5u4e00q6 1976 15 test test NN cord-014712-5u4e00q6 1976 16 . . . cord-014712-5u4e00q6 1977 1 CGD CGD NNP cord-014712-5u4e00q6 1977 2 is be VBZ cord-014712-5u4e00q6 1977 3 an an DT cord-014712-5u4e00q6 1977 4 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1977 5 caused cause VBN cord-014712-5u4e00q6 1977 6 by by IN cord-014712-5u4e00q6 1977 7 mutations mutation NNS cord-014712-5u4e00q6 1977 8 in in IN cord-014712-5u4e00q6 1977 9 genes gene NNS cord-014712-5u4e00q6 1977 10 encoding encoding NN cord-014712-5u4e00q6 1977 11 subunits subunit NNS cord-014712-5u4e00q6 1977 12 of of IN cord-014712-5u4e00q6 1977 13 the the DT cord-014712-5u4e00q6 1977 14 NADPH NADPH NNP cord-014712-5u4e00q6 1977 15 oxidase oxidase NN cord-014712-5u4e00q6 1977 16 complex complex NN cord-014712-5u4e00q6 1977 17 . . . cord-014712-5u4e00q6 1978 1 Normally normally RB cord-014712-5u4e00q6 1978 2 , , , cord-014712-5u4e00q6 1978 3 assembly assembly NN cord-014712-5u4e00q6 1978 4 of of IN cord-014712-5u4e00q6 1978 5 the the DT cord-014712-5u4e00q6 1978 6 NADPH NADPH NNP cord-014712-5u4e00q6 1978 7 oxidase oxidase NN cord-014712-5u4e00q6 1978 8 complex complex NN cord-014712-5u4e00q6 1978 9 in in IN cord-014712-5u4e00q6 1978 10 phagosomes phagosome NNS cord-014712-5u4e00q6 1978 11 of of IN cord-014712-5u4e00q6 1978 12 phagocytic phagocytic JJ cord-014712-5u4e00q6 1978 13 cells cell NNS cord-014712-5u4e00q6 1978 14 leads lead VBZ cord-014712-5u4e00q6 1978 15 to to IN cord-014712-5u4e00q6 1978 16 a a DT cord-014712-5u4e00q6 1978 17 " " `` cord-014712-5u4e00q6 1978 18 respiratory respiratory JJ cord-014712-5u4e00q6 1978 19 burst burst NN cord-014712-5u4e00q6 1978 20 " " '' cord-014712-5u4e00q6 1978 21 essential essential JJ cord-014712-5u4e00q6 1978 22 for for IN cord-014712-5u4e00q6 1978 23 the the DT cord-014712-5u4e00q6 1978 24 clearance clearance NN cord-014712-5u4e00q6 1978 25 of of IN cord-014712-5u4e00q6 1978 26 microorganisms microorganism NNS cord-014712-5u4e00q6 1978 27 . . . cord-014712-5u4e00q6 1979 1 CGD CGD NNP cord-014712-5u4e00q6 1979 2 patients patient NNS cord-014712-5u4e00q6 1979 3 lack lack VBP cord-014712-5u4e00q6 1979 4 this this DT cord-014712-5u4e00q6 1979 5 mechanism mechanism NN cord-014712-5u4e00q6 1979 6 , , , cord-014712-5u4e00q6 1979 7 which which WDT cord-014712-5u4e00q6 1979 8 results result VBZ cord-014712-5u4e00q6 1979 9 in in IN cord-014712-5u4e00q6 1979 10 life life NN cord-014712-5u4e00q6 1979 11 - - HYPH cord-014712-5u4e00q6 1979 12 threatening threaten VBG cord-014712-5u4e00q6 1979 13 infections infection NNS cord-014712-5u4e00q6 1979 14 and and CC cord-014712-5u4e00q6 1979 15 granuloma granuloma NN cord-014712-5u4e00q6 1979 16 formations formation NNS cord-014712-5u4e00q6 1979 17 . . . cord-014712-5u4e00q6 1980 1 The the DT cord-014712-5u4e00q6 1980 2 leading leading JJ cord-014712-5u4e00q6 1980 3 cause cause NN cord-014712-5u4e00q6 1980 4 of of IN cord-014712-5u4e00q6 1980 5 death death NN cord-014712-5u4e00q6 1980 6 are be VBP cord-014712-5u4e00q6 1980 7 pneumonia pneumonia NN cord-014712-5u4e00q6 1980 8 and and CC cord-014712-5u4e00q6 1980 9 pulmonary pulmonary JJ cord-014712-5u4e00q6 1980 10 abscess abscess NN cord-014712-5u4e00q6 1980 11 , , , cord-014712-5u4e00q6 1980 12 septicemia septicemia NN cord-014712-5u4e00q6 1980 13 and and CC cord-014712-5u4e00q6 1980 14 brain brain NN cord-014712-5u4e00q6 1980 15 abscess abscess NN cord-014712-5u4e00q6 1980 16 . . . cord-014712-5u4e00q6 1981 1 In in IN cord-014712-5u4e00q6 1981 2 neurogical neurogical JJ cord-014712-5u4e00q6 1981 3 manifestations manifestation NNS cord-014712-5u4e00q6 1981 4 various various JJ cord-014712-5u4e00q6 1981 5 pathogens pathogen NNS cord-014712-5u4e00q6 1981 6 have have VBP cord-014712-5u4e00q6 1981 7 been be VBN cord-014712-5u4e00q6 1981 8 involved involve VBN cord-014712-5u4e00q6 1981 9 including include VBG cord-014712-5u4e00q6 1981 10 Aspergillus aspergillus NN cord-014712-5u4e00q6 1981 11 spp spp NNS cord-014712-5u4e00q6 1981 12 . . . cord-014712-5u4e00q6 1982 1 , , , cord-014712-5u4e00q6 1982 2 S. S. NNP cord-014712-5u4e00q6 1982 3 prolificans prolificans NNP cord-014712-5u4e00q6 1982 4 , , , cord-014712-5u4e00q6 1982 5 A. A. NNP cord-014712-5u4e00q6 1982 6 infectoria infectoria NNP cord-014712-5u4e00q6 1982 7 , , , cord-014712-5u4e00q6 1982 8 Salmonella Salmonella NNP cord-014712-5u4e00q6 1982 9 and and CC cord-014712-5u4e00q6 1982 10 Staphylococcus Staphylococcus NNP cord-014712-5u4e00q6 1982 11 spp spp NNS cord-014712-5u4e00q6 1982 12 . . . cord-014712-5u4e00q6 1983 1 There there EX cord-014712-5u4e00q6 1983 2 are be VBP cord-014712-5u4e00q6 1983 3 only only RB cord-014712-5u4e00q6 1983 4 some some DT cord-014712-5u4e00q6 1983 5 several several JJ cord-014712-5u4e00q6 1983 6 reports report NNS cord-014712-5u4e00q6 1983 7 on on IN cord-014712-5u4e00q6 1983 8 fungal fungal JJ cord-014712-5u4e00q6 1983 9 brain brain NN cord-014712-5u4e00q6 1983 10 and and CC cord-014712-5u4e00q6 1983 11 spinal spinal JJ cord-014712-5u4e00q6 1983 12 cord cord NN cord-014712-5u4e00q6 1983 13 infection infection NN cord-014712-5u4e00q6 1983 14 , , , cord-014712-5u4e00q6 1983 15 Aspergillus aspergillus NN cord-014712-5u4e00q6 1983 16 abscess abscess NN cord-014712-5u4e00q6 1983 17 resembling resemble VBG cord-014712-5u4e00q6 1983 18 brain brain NN cord-014712-5u4e00q6 1983 19 tumor tumor NN cord-014712-5u4e00q6 1983 20 , , , cord-014712-5u4e00q6 1983 21 meningitis meningitis NN cord-014712-5u4e00q6 1983 22 due due IN cord-014712-5u4e00q6 1983 23 to to IN cord-014712-5u4e00q6 1983 24 Streptococcus Streptococcus NNP cord-014712-5u4e00q6 1983 25 and and CC cord-014712-5u4e00q6 1983 26 Candida Candida NNP cord-014712-5u4e00q6 1983 27 spp spp NNS cord-014712-5u4e00q6 1983 28 . . . cord-014712-5u4e00q6 1984 1 In in IN cord-014712-5u4e00q6 1984 2 the the DT cord-014712-5u4e00q6 1984 3 past past JJ cord-014712-5u4e00q6 1984 4 20 20 CD cord-014712-5u4e00q6 1984 5 years year NNS cord-014712-5u4e00q6 1984 6 we -PRON- PRP cord-014712-5u4e00q6 1984 7 treated treat VBD cord-014712-5u4e00q6 1984 8 7 7 CD cord-014712-5u4e00q6 1984 9 children child NNS cord-014712-5u4e00q6 1984 10 with with IN cord-014712-5u4e00q6 1984 11 CGD CGD NNP cord-014712-5u4e00q6 1984 12 . . . cord-014712-5u4e00q6 1985 1 We -PRON- PRP cord-014712-5u4e00q6 1985 2 present present VBP cord-014712-5u4e00q6 1985 3 the the DT cord-014712-5u4e00q6 1985 4 infectological infectological JJ cord-014712-5u4e00q6 1985 5 challenge challenge NN cord-014712-5u4e00q6 1985 6 of of IN cord-014712-5u4e00q6 1985 7 an an DT cord-014712-5u4e00q6 1985 8 X x NN cord-014712-5u4e00q6 1985 9 - - HYPH cord-014712-5u4e00q6 1985 10 linked link VBN cord-014712-5u4e00q6 1985 11 CGD CGD NNP cord-014712-5u4e00q6 1985 12 patient patient NN cord-014712-5u4e00q6 1985 13 with with IN cord-014712-5u4e00q6 1985 14 brain brain NN cord-014712-5u4e00q6 1985 15 abscess abscess NN cord-014712-5u4e00q6 1985 16 . . . cord-014712-5u4e00q6 1986 1 In in IN cord-014712-5u4e00q6 1986 2 spite spite NN cord-014712-5u4e00q6 1986 3 of of IN cord-014712-5u4e00q6 1986 4 our -PRON- PRP$ cord-014712-5u4e00q6 1986 5 effort effort NN cord-014712-5u4e00q6 1986 6 we -PRON- PRP cord-014712-5u4e00q6 1986 7 were be VBD cord-014712-5u4e00q6 1986 8 unable unable JJ cord-014712-5u4e00q6 1986 9 to to TO cord-014712-5u4e00q6 1986 10 identify identify VB cord-014712-5u4e00q6 1986 11 its -PRON- PRP$ cord-014712-5u4e00q6 1986 12 causative causative JJ cord-014712-5u4e00q6 1986 13 pathogen pathogen NN cord-014712-5u4e00q6 1986 14 . . . cord-014712-5u4e00q6 1987 1 Empiric empiric NN cord-014712-5u4e00q6 1987 2 therapy therapy NN cord-014712-5u4e00q6 1987 3 sometimes sometimes RB cord-014712-5u4e00q6 1987 4 resembles resemble VBZ cord-014712-5u4e00q6 1987 5 polypragmasia polypragmasia NNP cord-014712-5u4e00q6 1987 6 in in IN cord-014712-5u4e00q6 1987 7 CGD CGD NNP cord-014712-5u4e00q6 1987 8 . . . cord-014712-5u4e00q6 1988 1 To to TO cord-014712-5u4e00q6 1988 2 decrease decrease VB cord-014712-5u4e00q6 1988 3 mortality mortality NN cord-014712-5u4e00q6 1988 4 and and CC cord-014712-5u4e00q6 1988 5 morbidity morbidity NN cord-014712-5u4e00q6 1988 6 from from IN cord-014712-5u4e00q6 1988 7 fungal fungal JJ cord-014712-5u4e00q6 1988 8 infections infection NNS cord-014712-5u4e00q6 1988 9 in in IN cord-014712-5u4e00q6 1988 10 CGD CGD NNP cord-014712-5u4e00q6 1988 11 the the DT cord-014712-5u4e00q6 1988 12 prophylactic prophylactic JJ cord-014712-5u4e00q6 1988 13 use use NN cord-014712-5u4e00q6 1988 14 of of IN cord-014712-5u4e00q6 1988 15 itraconazole itraconazole NNP cord-014712-5u4e00q6 1988 16 or or CC cord-014712-5u4e00q6 1988 17 voriconazole voriconazole NNP cord-014712-5u4e00q6 1988 18 is be VBZ cord-014712-5u4e00q6 1988 19 widely widely RB cord-014712-5u4e00q6 1988 20 recommended recommend VBN cord-014712-5u4e00q6 1988 21 . . . cord-014712-5u4e00q6 1989 1 A a DT cord-014712-5u4e00q6 1989 2 relatively relatively RB cord-014712-5u4e00q6 1989 3 new new JJ cord-014712-5u4e00q6 1989 4 azole azole NNP cord-014712-5u4e00q6 1989 5 , , , cord-014712-5u4e00q6 1989 6 posaconazole posaconazole NNP cord-014712-5u4e00q6 1989 7 is be VBZ cord-014712-5u4e00q6 1989 8 active active JJ cord-014712-5u4e00q6 1989 9 in in IN cord-014712-5u4e00q6 1989 10 pulmonary pulmonary JJ cord-014712-5u4e00q6 1989 11 and and CC cord-014712-5u4e00q6 1989 12 cerebral cerebral JJ cord-014712-5u4e00q6 1989 13 fungal fungal JJ cord-014712-5u4e00q6 1989 14 manifestations manifestation NNS cord-014712-5u4e00q6 1989 15 , , , cord-014712-5u4e00q6 1989 16 indeed indeed RB cord-014712-5u4e00q6 1989 17 may may MD cord-014712-5u4e00q6 1989 18 be be VB cord-014712-5u4e00q6 1989 19 effective effective JJ cord-014712-5u4e00q6 1989 20 against against IN cord-014712-5u4e00q6 1989 21 fungi fungus NNS cord-014712-5u4e00q6 1989 22 with with IN cord-014712-5u4e00q6 1989 23 inherent inherent JJ cord-014712-5u4e00q6 1989 24 resistance resistance NN cord-014712-5u4e00q6 1989 25 to to IN cord-014712-5u4e00q6 1989 26 AmpB AmpB NNP cord-014712-5u4e00q6 1989 27 or or CC cord-014712-5u4e00q6 1989 28 voriconazole voriconazole NN cord-014712-5u4e00q6 1989 29 . . . cord-014712-5u4e00q6 1990 1 There there EX cord-014712-5u4e00q6 1990 2 was be VBD cord-014712-5u4e00q6 1990 3 no no DT cord-014712-5u4e00q6 1990 4 etiological etiological JJ cord-014712-5u4e00q6 1990 5 diagnosis diagnosis NN cord-014712-5u4e00q6 1990 6 in in IN cord-014712-5u4e00q6 1990 7 our -PRON- PRP$ cord-014712-5u4e00q6 1990 8 case case NN cord-014712-5u4e00q6 1991 1 that that WDT cord-014712-5u4e00q6 1991 2 did do VBD cord-014712-5u4e00q6 1991 3 not not RB cord-014712-5u4e00q6 1991 4 respond respond VB cord-014712-5u4e00q6 1991 5 to to IN cord-014712-5u4e00q6 1991 6 conventional conventional JJ cord-014712-5u4e00q6 1991 7 antifungal antifungal JJ cord-014712-5u4e00q6 1991 8 and and CC cord-014712-5u4e00q6 1991 9 antibacterial antibacterial JJ cord-014712-5u4e00q6 1991 10 treatment treatment NN cord-014712-5u4e00q6 1991 11 . . . cord-014712-5u4e00q6 1992 1 Based base VBN cord-014712-5u4e00q6 1992 2 upon upon IN cord-014712-5u4e00q6 1992 3 the the DT cord-014712-5u4e00q6 1992 4 findings finding NNS cord-014712-5u4e00q6 1992 5 and and CC cord-014712-5u4e00q6 1992 6 literature literature NN cord-014712-5u4e00q6 1992 7 data datum NNS cord-014712-5u4e00q6 1992 8 we -PRON- PRP cord-014712-5u4e00q6 1992 9 presume presume VBP cord-014712-5u4e00q6 1992 10 the the DT cord-014712-5u4e00q6 1992 11 causative causative JJ cord-014712-5u4e00q6 1992 12 agent agent NN cord-014712-5u4e00q6 1992 13 might may MD cord-014712-5u4e00q6 1992 14 be be VB cord-014712-5u4e00q6 1992 15 some some DT cord-014712-5u4e00q6 1992 16 kind kind NN cord-014712-5u4e00q6 1992 17 of of IN cord-014712-5u4e00q6 1992 18 moulds mould NNS cord-014712-5u4e00q6 1992 19 . . . cord-014712-5u4e00q6 1993 1 We -PRON- PRP cord-014712-5u4e00q6 1993 2 suppose suppose VBP cord-014712-5u4e00q6 1993 3 the the DT cord-014712-5u4e00q6 1993 4 use use NN cord-014712-5u4e00q6 1993 5 of of IN cord-014712-5u4e00q6 1993 6 echinocandin echinocandin NNP cord-014712-5u4e00q6 1993 7 and and CC cord-014712-5u4e00q6 1993 8 posaconazole posaconazole NNP cord-014712-5u4e00q6 1993 9 as as IN cord-014712-5u4e00q6 1993 10 salvage salvage NN cord-014712-5u4e00q6 1993 11 ( ( -LRB- cord-014712-5u4e00q6 1993 12 " " `` cord-014712-5u4e00q6 1993 13 prophylactic prophylactic JJ cord-014712-5u4e00q6 1993 14 " " '' cord-014712-5u4e00q6 1993 15 ) ) -RRB- cord-014712-5u4e00q6 1993 16 therapy therapy NN cord-014712-5u4e00q6 1993 17 has have VBZ cord-014712-5u4e00q6 1993 18 resulted result VBN cord-014712-5u4e00q6 1993 19 significant significant JJ cord-014712-5u4e00q6 1993 20 regression regression NN cord-014712-5u4e00q6 1993 21 of of IN cord-014712-5u4e00q6 1993 22 the the DT cord-014712-5u4e00q6 1993 23 brain brain NN cord-014712-5u4e00q6 1993 24 abscess abscess NN cord-014712-5u4e00q6 1993 25 . . . cord-014712-5u4e00q6 1994 1 The the DT cord-014712-5u4e00q6 1994 2 diagnosis diagnosis NN cord-014712-5u4e00q6 1994 3 of of IN cord-014712-5u4e00q6 1994 4 chronic chronic JJ cord-014712-5u4e00q6 1994 5 granulomatous granulomatous JJ cord-014712-5u4e00q6 1994 6 disease disease NN cord-014712-5u4e00q6 1994 7 ( ( -LRB- cord-014712-5u4e00q6 1994 8 CGD CGD NNP cord-014712-5u4e00q6 1994 9 ) ) -RRB- cord-014712-5u4e00q6 1994 10 was be VBD cord-014712-5u4e00q6 1994 11 verified verify VBN cord-014712-5u4e00q6 1994 12 in in IN cord-014712-5u4e00q6 1994 13 7 7 CD cord-014712-5u4e00q6 1994 14 children child NNS cord-014712-5u4e00q6 1994 15 during during IN cord-014712-5u4e00q6 1994 16 the the DT cord-014712-5u4e00q6 1994 17 past past JJ cord-014712-5u4e00q6 1994 18 few few JJ cord-014712-5u4e00q6 1994 19 years year NNS cord-014712-5u4e00q6 1994 20 in in IN cord-014712-5u4e00q6 1994 21 the the DT cord-014712-5u4e00q6 1994 22 Department Department NNP cord-014712-5u4e00q6 1994 23 of of IN cord-014712-5u4e00q6 1994 24 Clinical Clinical NNP cord-014712-5u4e00q6 1994 25 Immunology Immunology NNP cord-014712-5u4e00q6 1994 26 of of IN cord-014712-5u4e00q6 1994 27 Regional Regional NNP cord-014712-5u4e00q6 1994 28 Children Children NNPS cord-014712-5u4e00q6 1994 29 's 's POS cord-014712-5u4e00q6 1994 30 Hospital Hospital NNP cord-014712-5u4e00q6 1994 31 of of IN cord-014712-5u4e00q6 1994 32 Chelyabinsk Chelyabinsk NNP cord-014712-5u4e00q6 1994 33 ( ( -LRB- cord-014712-5u4e00q6 1994 34 Russia Russia NNP cord-014712-5u4e00q6 1994 35 ) ) -RRB- cord-014712-5u4e00q6 1994 36 . . . cord-014712-5u4e00q6 1995 1 In in IN cord-014712-5u4e00q6 1995 2 our -PRON- PRP$ cord-014712-5u4e00q6 1995 3 opinionin opinionin NNS cord-014712-5u4e00q6 1995 4 3 3 CD cord-014712-5u4e00q6 1995 5 casesthe casesthe NNP cord-014712-5u4e00q6 1995 6 diagnosis diagnosis NN cord-014712-5u4e00q6 1995 7 was be VBD cord-014712-5u4e00q6 1995 8 establishedearly establishedearly RB cord-014712-5u4e00q6 1995 9 enough enough JJ cord-014712-5u4e00q6 1995 10 . . . cord-014712-5u4e00q6 1996 1 Michael Michael NNP cord-014712-5u4e00q6 1996 2 W. W. NNP cord-014712-5u4e00q6 1996 3 Transferred transfer VBN cord-014712-5u4e00q6 1996 4 to to IN cord-014712-5u4e00q6 1996 5 the the DT cord-014712-5u4e00q6 1996 6 neonatal neonatal JJ cord-014712-5u4e00q6 1996 7 pathology pathology NN cord-014712-5u4e00q6 1996 8 unit unit NN cord-014712-5u4e00q6 1996 9 of of IN cord-014712-5u4e00q6 1996 10 our -PRON- PRP$ cord-014712-5u4e00q6 1996 11 clinic clinic NN cord-014712-5u4e00q6 1996 12 at at IN cord-014712-5u4e00q6 1996 13 the the DT cord-014712-5u4e00q6 1996 14 age age NN cord-014712-5u4e00q6 1996 15 of of IN cord-014712-5u4e00q6 1996 16 5 5 CD cord-014712-5u4e00q6 1996 17 days day NNS cord-014712-5u4e00q6 1996 18 with with IN cord-014712-5u4e00q6 1996 19 vesiculopustules vesiculopustules NNP cord-014712-5u4e00q6 1996 20 . . . cord-014712-5u4e00q6 1997 1 Take take VB cord-014712-5u4e00q6 1997 2 into into IN cord-014712-5u4e00q6 1997 3 consideration consideration NN cord-014712-5u4e00q6 1997 4 our -PRON- PRP$ cord-014712-5u4e00q6 1997 5 own own JJ cord-014712-5u4e00q6 1997 6 experience experience NN cord-014712-5u4e00q6 1997 7 of of IN cord-014712-5u4e00q6 1997 8 observing observe VBG cord-014712-5u4e00q6 1997 9 children child NNS cord-014712-5u4e00q6 1997 10 with with IN cord-014712-5u4e00q6 1997 11 this this DT cord-014712-5u4e00q6 1997 12 form form NN cord-014712-5u4e00q6 1997 13 of of IN cord-014712-5u4e00q6 1997 14 primary primary JJ cord-014712-5u4e00q6 1997 15 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 1997 16 in in IN cord-014712-5u4e00q6 1997 17 previous previous JJ cord-014712-5u4e00q6 1997 18 years year NNS cord-014712-5u4e00q6 1997 19 , , , cord-014712-5u4e00q6 1997 20 the the DT cord-014712-5u4e00q6 1997 21 child child NN cord-014712-5u4e00q6 1997 22 was be VBD cord-014712-5u4e00q6 1997 23 conducted conduct VBN cord-014712-5u4e00q6 1997 24 immunological immunological JJ cord-014712-5u4e00q6 1997 25 examination examination NN cord-014712-5u4e00q6 1997 26 , , , cord-014712-5u4e00q6 1997 27 in in IN cord-014712-5u4e00q6 1997 28 particular particular JJ cord-014712-5u4e00q6 1997 29 , , , cord-014712-5u4e00q6 1997 30 the the DT cord-014712-5u4e00q6 1997 31 test test NN cord-014712-5u4e00q6 1997 32 of of IN cord-014712-5u4e00q6 1997 33 restoration restoration NN cord-014712-5u4e00q6 1997 34 Nitroblue Nitroblue NNP cord-014712-5u4e00q6 1997 35 tetrazolium tetrazolium NN cord-014712-5u4e00q6 1997 36 by by IN cord-014712-5u4e00q6 1997 37 superoxide superoxide NN cord-014712-5u4e00q6 1997 38 anionformed anionforme VBN cord-014712-5u4e00q6 1997 39 when when WRB cord-014712-5u4e00q6 1997 40 oxygen oxygen NN cord-014712-5u4e00q6 1997 41 explodes explode VBZ cord-014712-5u4e00q6 1997 42 in in IN cord-014712-5u4e00q6 1997 43 leukocyte leukocyte NN cord-014712-5u4e00q6 1997 44 ( ( -LRB- cord-014712-5u4e00q6 1997 45 nitro nitro NNP cord-014712-5u4e00q6 1997 46 blau blau NNP cord-014712-5u4e00q6 1997 47 tetrasolium tetrasolium NNP cord-014712-5u4e00q6 1997 48 -NBT -NBT -LRB- cord-014712-5u4e00q6 1997 49 - - HYPH cord-014712-5u4e00q6 1997 50 test test NN cord-014712-5u4e00q6 1997 51 ) ) -RRB- cord-014712-5u4e00q6 1997 52 . . . cord-014712-5u4e00q6 1998 1 This this DT cord-014712-5u4e00q6 1998 2 decision decision NN cord-014712-5u4e00q6 1998 3 is be VBZ cord-014712-5u4e00q6 1998 4 caused cause VBN cord-014712-5u4e00q6 1998 5 by by IN cord-014712-5u4e00q6 1998 6 the the DT cord-014712-5u4e00q6 1998 7 fact fact NN cord-014712-5u4e00q6 1998 8 that that IN cord-014712-5u4e00q6 1998 9 previously previously RB cord-014712-5u4e00q6 1998 10 observed observe VBD cord-014712-5u4e00q6 1998 11 children child NNS cord-014712-5u4e00q6 1998 12 with with IN cord-014712-5u4e00q6 1998 13 chronic chronic JJ cord-014712-5u4e00q6 1998 14 granulomatous granulomatous JJ cord-014712-5u4e00q6 1998 15 disease disease NN cord-014712-5u4e00q6 1998 16 , , , cord-014712-5u4e00q6 1998 17 had have VBD cord-014712-5u4e00q6 1998 18 vesiculopustules vesiculopustule NNS cord-014712-5u4e00q6 1998 19 in in IN cord-014712-5u4e00q6 1998 20 90 90 CD cord-014712-5u4e00q6 1998 21 % % NN cord-014712-5u4e00q6 1998 22 at at IN cord-014712-5u4e00q6 1998 23 birth birth NN cord-014712-5u4e00q6 1998 24 . . . cord-014712-5u4e00q6 1999 1 The the DT cord-014712-5u4e00q6 1999 2 survey survey NN cord-014712-5u4e00q6 1999 3 has have VBZ cord-014712-5u4e00q6 1999 4 revealed reveal VBN cord-014712-5u4e00q6 1999 5 a a DT cord-014712-5u4e00q6 1999 6 complete complete JJ cord-014712-5u4e00q6 1999 7 lack lack NN cord-014712-5u4e00q6 1999 8 of of IN cord-014712-5u4e00q6 1999 9 production production NN cord-014712-5u4e00q6 1999 10 of of IN cord-014712-5u4e00q6 1999 11 reactive reactive JJ cord-014712-5u4e00q6 1999 12 oxygen oxygen NN cord-014712-5u4e00q6 1999 13 species specie NNS cord-014712-5u4e00q6 1999 14 by by IN cord-014712-5u4e00q6 1999 15 neutrophils neutrophil NNS cord-014712-5u4e00q6 1999 16 in in IN cord-014712-5u4e00q6 1999 17 the the DT cord-014712-5u4e00q6 1999 18 evaluation evaluation NN cord-014712-5u4e00q6 1999 19 of of IN cord-014712-5u4e00q6 1999 20 NBT NBT NNP cord-014712-5u4e00q6 1999 21 - - HYPH cord-014712-5u4e00q6 1999 22 test test NN cord-014712-5u4e00q6 1999 23 , , , cord-014712-5u4e00q6 1999 24 which which WDT cord-014712-5u4e00q6 1999 25 allowed allow VBD cord-014712-5u4e00q6 1999 26 us -PRON- PRP cord-014712-5u4e00q6 1999 27 to to TO cord-014712-5u4e00q6 1999 28 suggest suggest VB cord-014712-5u4e00q6 1999 29 the the DT cord-014712-5u4e00q6 1999 30 diagnosis diagnosis NN cord-014712-5u4e00q6 1999 31 of of IN cord-014712-5u4e00q6 1999 32 CGD CGD NNP cord-014712-5u4e00q6 1999 33 . . . cord-014712-5u4e00q6 2000 1 The the DT cord-014712-5u4e00q6 2000 2 baby baby NN cord-014712-5u4e00q6 2000 3 was be VBD cord-014712-5u4e00q6 2000 4 banned ban VBN cord-014712-5u4e00q6 2000 5 vaccination vaccination NN cord-014712-5u4e00q6 2000 6 against against IN cord-014712-5u4e00q6 2000 7 tuberculosis tuberculosis NN cord-014712-5u4e00q6 2000 8 , , , cord-014712-5u4e00q6 2000 9 and and CC cord-014712-5u4e00q6 2000 10 after after IN cord-014712-5u4e00q6 2000 11 reliever reliever NN cord-014712-5u4e00q6 2000 12 vesiculopustules vesiculopustule VBZ cord-014712-5u4e00q6 2000 13 the the DT cord-014712-5u4e00q6 2000 14 boy boy NN cord-014712-5u4e00q6 2000 15 was be VBD cord-014712-5u4e00q6 2000 16 discharged discharge VBN cord-014712-5u4e00q6 2000 17 home home RB cord-014712-5u4e00q6 2000 18 . . . cord-014712-5u4e00q6 2001 1 However however RB cord-014712-5u4e00q6 2001 2 , , , cord-014712-5u4e00q6 2001 3 at at IN cord-014712-5u4e00q6 2001 4 the the DT cord-014712-5u4e00q6 2001 5 age age NN cord-014712-5u4e00q6 2001 6 of of IN cord-014712-5u4e00q6 2001 7 1 1 CD cord-014712-5u4e00q6 2001 8 month month NN cord-014712-5u4e00q6 2001 9 the the DT cord-014712-5u4e00q6 2001 10 baby baby NN cord-014712-5u4e00q6 2001 11 suffered suffer VBD cord-014712-5u4e00q6 2001 12 from from IN cord-014712-5u4e00q6 2001 13 glandular glandular JJ cord-014712-5u4e00q6 2001 14 abscess abscess NN cord-014712-5u4e00q6 2001 15 and and CC cord-014712-5u4e00q6 2001 16 right right RB cord-014712-5u4e00q6 2001 17 - - HYPH cord-014712-5u4e00q6 2001 18 segmental segmental JJ cord-014712-5u4e00q6 2001 19 pneumonia pneumonia NN cord-014712-5u4e00q6 2001 20 . . . cord-014712-5u4e00q6 2002 1 In in IN cord-014712-5u4e00q6 2002 2 CBC CBC NNP cord-014712-5u4e00q6 2002 3 there there EX cord-014712-5u4e00q6 2002 4 is be VBZ cord-014712-5u4e00q6 2002 5 expressed express VBN cord-014712-5u4e00q6 2002 6 anemia anemia NN cord-014712-5u4e00q6 2002 7 ( ( -LRB- cord-014712-5u4e00q6 2002 8 Hb Hb NNP cord-014712-5u4e00q6 2002 9 60 60 CD cord-014712-5u4e00q6 2002 10 g g NN cord-014712-5u4e00q6 2002 11 / / SYM cord-014712-5u4e00q6 2002 12 l l NN cord-014712-5u4e00q6 2002 13 , , , cord-014712-5u4e00q6 2002 14 erythrocytes erythrocyte VBZ cord-014712-5u4e00q6 2003 1 -1.98 -1.98 . cord-014712-5u4e00q6 2004 1 x x LS cord-014712-5u4e00q6 2004 2 10 10 CD cord-014712-5u4e00q6 2004 3 12 12 CD cord-014712-5u4e00q6 2004 4 /l /l NN cord-014712-5u4e00q6 2004 5 ) ) -RRB- cord-014712-5u4e00q6 2004 6 , , , cord-014712-5u4e00q6 2004 7 leukocytosis leukocytosis NNP cord-014712-5u4e00q6 2004 8 ( ( -LRB- cord-014712-5u4e00q6 2004 9 22x 22x CD cord-014712-5u4e00q6 2004 10 10 10 CD cord-014712-5u4e00q6 2004 11 9 9 CD cord-014712-5u4e00q6 2004 12 /l /l NN cord-014712-5u4e00q6 2004 13 ) ) -RRB- cord-014712-5u4e00q6 2004 14 , , , cord-014712-5u4e00q6 2004 15 accelerated accelerate VBN cord-014712-5u4e00q6 2004 16 ESR ESR NNP cord-014712-5u4e00q6 2004 17 ( ( -LRB- cord-014712-5u4e00q6 2004 18 36 36 CD cord-014712-5u4e00q6 2004 19 - - SYM cord-014712-5u4e00q6 2004 20 55 55 CD cord-014712-5u4e00q6 2004 21 mm mm NNP cord-014712-5u4e00q6 2004 22 / / SYM cord-014712-5u4e00q6 2004 23 h h NN cord-014712-5u4e00q6 2004 24 ) ) -RRB- cord-014712-5u4e00q6 2004 25 . . . cord-014712-5u4e00q6 2005 1 At at IN cord-014712-5u4e00q6 2005 2 the the DT cord-014712-5u4e00q6 2005 3 age age NN cord-014712-5u4e00q6 2005 4 of of IN cord-014712-5u4e00q6 2005 5 3 3 CD cord-014712-5u4e00q6 2005 6 months month NNS cord-014712-5u4e00q6 2005 7 in in IN cord-014712-5u4e00q6 2005 8 the the DT cord-014712-5u4e00q6 2005 9 University University NNP cord-014712-5u4e00q6 2005 10 of of IN cord-014712-5u4e00q6 2005 11 Debrecen Debrecen NNP cord-014712-5u4e00q6 2005 12 , , , cord-014712-5u4e00q6 2005 13 Medical Medical NNP cord-014712-5u4e00q6 2005 14 and and CC cord-014712-5u4e00q6 2005 15 Health Health NNP cord-014712-5u4e00q6 2005 16 Science Science NNP cord-014712-5u4e00q6 2005 17 Center Center NNP cord-014712-5u4e00q6 2005 18 Debrecen Debrecen NNP cord-014712-5u4e00q6 2005 19 , , , cord-014712-5u4e00q6 2005 20 Hungary Hungary NNP cord-014712-5u4e00q6 2005 21 , , , cord-014712-5u4e00q6 2005 22 molecular molecular JJ cord-014712-5u4e00q6 2005 23 genetic genetic JJ cord-014712-5u4e00q6 2005 24 studywas studywas NN cord-014712-5u4e00q6 2005 25 conducted conduct VBN cord-014712-5u4e00q6 2005 26 by by IN cord-014712-5u4e00q6 2005 27 prof prof NNP cord-014712-5u4e00q6 2005 28 . . . cord-014712-5u4e00q6 2006 1 Dr. Dr. NNP cord-014712-5u4e00q6 2006 2 Laszlo Laszlo NNP cord-014712-5u4e00q6 2006 3 Marodi Marodi NNP cord-014712-5u4e00q6 2006 4 . . . cord-014712-5u4e00q6 2007 1 It -PRON- PRP cord-014712-5u4e00q6 2007 2 was be VBD cord-014712-5u4e00q6 2007 3 revealed reveal VBN cord-014712-5u4e00q6 2007 4 a a DT cord-014712-5u4e00q6 2007 5 mutation mutation NN cord-014712-5u4e00q6 2007 6 in in IN cord-014712-5u4e00q6 2007 7 c. c. NN cord-014712-5u4e00q6 2007 8 374 374 CD cord-014712-5u4e00q6 2007 9 G g NN cord-014712-5u4e00q6 2007 10 > > XX cord-014712-5u4e00q6 2008 1 A a DT cord-014712-5u4e00q6 2008 2 in in IN cord-014712-5u4e00q6 2008 3 exon exon NN cord-014712-5u4e00q6 2008 4 of of IN cord-014712-5u4e00q6 2008 5 6 6 CD cord-014712-5u4e00q6 2008 6 gene gene NN cord-014712-5u4e00q6 2008 7 CYBB CYBB NNP cord-014712-5u4e00q6 2008 8 ( ( -LRB- cord-014712-5u4e00q6 2008 9 encoding encode VBG cord-014712-5u4e00q6 2008 10 subunit subunit NN cord-014712-5u4e00q6 2008 11 gp91-phox gp91-phox NNP cord-014712-5u4e00q6 2008 12 ) ) -RRB- cord-014712-5u4e00q6 2008 13 , , , cord-014712-5u4e00q6 2008 14 after after IN cord-014712-5u4e00q6 2008 15 that that DT cord-014712-5u4e00q6 2008 16 the the DT cord-014712-5u4e00q6 2008 17 diagnosis diagnosis NN cord-014712-5u4e00q6 2008 18 of of IN cord-014712-5u4e00q6 2008 19 CGD CGD NNP cord-014712-5u4e00q6 2008 20 was be VBD cord-014712-5u4e00q6 2008 21 finally finally RB cord-014712-5u4e00q6 2008 22 verified verify VBN cord-014712-5u4e00q6 2008 23 . . . cord-014712-5u4e00q6 2009 1 It -PRON- PRP cord-014712-5u4e00q6 2009 2 was be VBD cord-014712-5u4e00q6 2009 3 assigned assign VBN cord-014712-5u4e00q6 2009 4 a a DT cord-014712-5u4e00q6 2009 5 basic basic JJ cord-014712-5u4e00q6 2009 6 preventive preventive JJ cord-014712-5u4e00q6 2009 7 antimicrobial antimicrobial JJ cord-014712-5u4e00q6 2009 8 therapy therapy NN cord-014712-5u4e00q6 2009 9 by by IN cord-014712-5u4e00q6 2009 10 trimethoprimsulfamethoxazole trimethoprimsulfamethoxazole NNP cord-014712-5u4e00q6 2009 11 , , , cord-014712-5u4e00q6 2009 12 and and CC cord-014712-5u4e00q6 2009 13 itraconazoleto itraconazoleto NN cord-014712-5u4e00q6 2009 14 prevent prevent VBP cord-014712-5u4e00q6 2009 15 fungal fungal JJ cord-014712-5u4e00q6 2009 16 infections infection NNS cord-014712-5u4e00q6 2009 17 . . . cord-014712-5u4e00q6 2010 1 Despite despite IN cord-014712-5u4e00q6 2010 2 this this DT cord-014712-5u4e00q6 2010 3 since since IN cord-014712-5u4e00q6 2010 4 6 6 CD cord-014712-5u4e00q6 2010 5 months month NNS cord-014712-5u4e00q6 2010 6 the the DT cord-014712-5u4e00q6 2010 7 child child NN cord-014712-5u4e00q6 2010 8 has have VBZ cord-014712-5u4e00q6 2010 9 repeatedly repeatedly RB cord-014712-5u4e00q6 2010 10 and and CC cord-014712-5u4e00q6 2010 11 consistently consistently RB cord-014712-5u4e00q6 2010 12 suffered suffer VBN cord-014712-5u4e00q6 2010 13 from from IN cord-014712-5u4e00q6 2010 14 bilateral bilateral JJ cord-014712-5u4e00q6 2010 15 groin groin NN cord-014712-5u4e00q6 2010 16 lymphadenitis lymphadenitis RB cord-014712-5u4e00q6 2010 17 during during IN cord-014712-5u4e00q6 2010 18 the the DT cord-014712-5u4e00q6 2010 19 year year NN cord-014712-5u4e00q6 2010 20 , , , cord-014712-5u4e00q6 2010 21 acute acute JJ cord-014712-5u4e00q6 2010 22 hematogenous hematogenous JJ cord-014712-5u4e00q6 2010 23 osteomyelitis osteomyelitis NN cord-014712-5u4e00q6 2010 24 of of IN cord-014712-5u4e00q6 2010 25 the the DT cord-014712-5u4e00q6 2010 26 left left JJ cord-014712-5u4e00q6 2010 27 ulna ulna NN cord-014712-5u4e00q6 2010 28 , , , cord-014712-5u4e00q6 2010 29 2 2 CD cord-014712-5u4e00q6 2010 30 pneumonias pneumonia NNS cord-014712-5u4e00q6 2010 31 , , , cord-014712-5u4e00q6 2010 32 purulent purulent JJ cord-014712-5u4e00q6 2010 33 mesadenitis mesadenitis NN cord-014712-5u4e00q6 2010 34 , , , cord-014712-5u4e00q6 2010 35 endoperitonitis endoperitonitis NNP cord-014712-5u4e00q6 2010 36 . . . cord-014712-5u4e00q6 2011 1 The the DT cord-014712-5u4e00q6 2011 2 fact fact NN cord-014712-5u4e00q6 2011 3 that that IN cord-014712-5u4e00q6 2011 4 the the DT cord-014712-5u4e00q6 2011 5 child child NN cord-014712-5u4e00q6 2011 6 aged age VBN cord-014712-5u4e00q6 2011 7 8 8 CD cord-014712-5u4e00q6 2011 8 months month NNS cord-014712-5u4e00q6 2011 9 was be VBD cord-014712-5u4e00q6 2011 10 diagnosed diagnose VBN cord-014712-5u4e00q6 2011 11 sepsisis sepsisis NN cord-014712-5u4e00q6 2011 12 evidence evidence NN cord-014712-5u4e00q6 2011 13 of of IN cord-014712-5u4e00q6 2011 14 the the DT cord-014712-5u4e00q6 2011 15 severity severity NN cord-014712-5u4e00q6 2011 16 of of IN cord-014712-5u4e00q6 2011 17 infectious infectious JJ cord-014712-5u4e00q6 2011 18 complications complication NNS cord-014712-5u4e00q6 2011 19 . . . cord-014712-5u4e00q6 2012 1 Clinical clinical JJ cord-014712-5u4e00q6 2012 2 and and CC cord-014712-5u4e00q6 2012 3 biochemical biochemical JJ cord-014712-5u4e00q6 2012 4 blood blood NN cord-014712-5u4e00q6 2012 5 tests test NNS cord-014712-5u4e00q6 2012 6 were be VBD cord-014712-5u4e00q6 2012 7 distinguished distinguish VBN cord-014712-5u4e00q6 2012 8 by by IN cord-014712-5u4e00q6 2012 9 consistently consistently RB cord-014712-5u4e00q6 2012 10 high high JJ cord-014712-5u4e00q6 2012 11 levels level NNS cord-014712-5u4e00q6 2012 12 of of IN cord-014712-5u4e00q6 2012 13 ESR ESR NNP cord-014712-5u4e00q6 2012 14 and and CC cord-014712-5u4e00q6 2012 15 the the DT cord-014712-5u4e00q6 2012 16 presence presence NN cord-014712-5u4e00q6 2012 17 of of IN cord-014712-5u4e00q6 2012 18 leukocytosis leukocytosis NNP cord-014712-5u4e00q6 2012 19 , , , cord-014712-5u4e00q6 2012 20 and and CC cord-014712-5u4e00q6 2012 21 also also RB cord-014712-5u4e00q6 2012 22 severe severe JJ cord-014712-5u4e00q6 2012 23 anemia anemia NN cord-014712-5u4e00q6 2012 24 . . . cord-014712-5u4e00q6 2013 1 Now now RB cord-014712-5u4e00q6 2013 2 the the DT cord-014712-5u4e00q6 2013 3 child child NN cord-014712-5u4e00q6 2013 4 is be VBZ cord-014712-5u4e00q6 2013 5 2 2 CD cord-014712-5u4e00q6 2013 6 years year NNS cord-014712-5u4e00q6 2013 7 11 11 CD cord-014712-5u4e00q6 2013 8 months month NNS cord-014712-5u4e00q6 2013 9 , , , cord-014712-5u4e00q6 2013 10 he -PRON- PRP cord-014712-5u4e00q6 2013 11 is be VBZ cord-014712-5u4e00q6 2013 12 undergoing undergo VBG cord-014712-5u4e00q6 2013 13 treatment treatment NN cord-014712-5u4e00q6 2013 14 at at IN cord-014712-5u4e00q6 2013 15 the the DT cord-014712-5u4e00q6 2013 16 Department Department NNP cord-014712-5u4e00q6 2013 17 of of IN cord-014712-5u4e00q6 2013 18 Clinical Clinical NNP cord-014712-5u4e00q6 2013 19 Immunology Immunology NNP cord-014712-5u4e00q6 2013 20 , , , cord-014712-5u4e00q6 2013 21 Russian Russian NNP cord-014712-5u4e00q6 2013 22 Children Children NNPS cord-014712-5u4e00q6 2013 23 's 's POS cord-014712-5u4e00q6 2013 24 Clinical Clinical NNP cord-014712-5u4e00q6 2013 25 Hospital Hospital NNP cord-014712-5u4e00q6 2013 26 ( ( -LRB- cord-014712-5u4e00q6 2013 27 Moscow Moscow NNP cord-014712-5u4e00q6 2013 28 ) ) -RRB- cord-014712-5u4e00q6 2013 29 after after IN cord-014712-5u4e00q6 2013 30 bone bone NN cord-014712-5u4e00q6 2013 31 marrow marrow NN cord-014712-5u4e00q6 2013 32 transplantation transplantation NN cord-014712-5u4e00q6 2013 33 . . . cord-014712-5u4e00q6 2014 1 Case case NN cord-014712-5u4e00q6 2014 2 history history NN cord-014712-5u4e00q6 2014 3 № № NNP cord-014712-5u4e00q6 2014 4 2 2 CD cord-014712-5u4e00q6 2014 5 , , , cord-014712-5u4e00q6 2014 6 3 3 CD cord-014712-5u4e00q6 2014 7 Christina Christina NNP cord-014712-5u4e00q6 2014 8 N. N. NNP cord-014712-5u4e00q6 2015 1 From from IN cord-014712-5u4e00q6 2015 2 the the DT cord-014712-5u4e00q6 2015 3 early early JJ cord-014712-5u4e00q6 2015 4 history history NN cord-014712-5u4e00q6 2015 5 we -PRON- PRP cord-014712-5u4e00q6 2015 6 know know VBP cord-014712-5u4e00q6 2015 7 that that IN cord-014712-5u4e00q6 2015 8 the the DT cord-014712-5u4e00q6 2015 9 girl girl NN cord-014712-5u4e00q6 2015 10 's 's POS cord-014712-5u4e00q6 2015 11 newborn newborn JJ cord-014712-5u4e00q6 2015 12 period period NN cord-014712-5u4e00q6 2015 13 was be VBD cord-014712-5u4e00q6 2015 14 uneventful uneventful JJ cord-014712-5u4e00q6 2015 15 . . . cord-014712-5u4e00q6 2016 1 She -PRON- PRP cord-014712-5u4e00q6 2016 2 was be VBD cord-014712-5u4e00q6 2016 3 vaccinated vaccinate VBN cord-014712-5u4e00q6 2016 4 against against IN cord-014712-5u4e00q6 2016 5 tuberculosis tuberculosis NN cord-014712-5u4e00q6 2016 6 in in IN cord-014712-5u4e00q6 2016 7 the the DT cord-014712-5u4e00q6 2016 8 nursing nursing NN cord-014712-5u4e00q6 2016 9 home home NN cord-014712-5u4e00q6 2016 10 ( ( -LRB- cord-014712-5u4e00q6 2016 11 no no DT cord-014712-5u4e00q6 2016 12 reaction reaction NN cord-014712-5u4e00q6 2016 13 ) ) -RRB- cord-014712-5u4e00q6 2016 14 . . . cord-014712-5u4e00q6 2017 1 It -PRON- PRP cord-014712-5u4e00q6 2017 2 was be VBD cord-014712-5u4e00q6 2017 3 noted note VBN cord-014712-5u4e00q6 2017 4 the the DT cord-014712-5u4e00q6 2017 5 formation formation NN cord-014712-5u4e00q6 2017 6 of of IN cord-014712-5u4e00q6 2017 7 abscesses abscess NNS cord-014712-5u4e00q6 2017 8 after after IN cord-014712-5u4e00q6 2017 9 vaccination vaccination NN cord-014712-5u4e00q6 2017 10 against against IN cord-014712-5u4e00q6 2017 11 whooping whooping JJ cord-014712-5u4e00q6 2017 12 cough cough NN cord-014712-5u4e00q6 2017 13 , , , cord-014712-5u4e00q6 2017 14 diphtheria diphtheria NN cord-014712-5u4e00q6 2017 15 and and CC cord-014712-5u4e00q6 2017 16 tetanus tetanus NN cord-014712-5u4e00q6 2017 17 in in IN cord-014712-5u4e00q6 2017 18 3 3 CD cord-014712-5u4e00q6 2017 19 and and CC cord-014712-5u4e00q6 2017 20 4.5 4.5 CD cord-014712-5u4e00q6 2017 21 months month NNS cord-014712-5u4e00q6 2017 22 . . . cord-014712-5u4e00q6 2018 1 In in IN cord-014712-5u4e00q6 2018 2 2 2 CD cord-014712-5u4e00q6 2018 3 years year NNS cord-014712-5u4e00q6 2018 4 8 8 CD cord-014712-5u4e00q6 2018 5 months month NNS cord-014712-5u4e00q6 2018 6 she -PRON- PRP cord-014712-5u4e00q6 2018 7 suffered suffer VBD cord-014712-5u4e00q6 2018 8 from from IN cord-014712-5u4e00q6 2018 9 mezootit mezootit NNP cord-014712-5u4e00q6 2018 10 . . . cord-014712-5u4e00q6 2019 1 For for IN cord-014712-5u4e00q6 2019 2 the the DT cord-014712-5u4e00q6 2019 3 first first JJ cord-014712-5u4e00q6 2019 4 time time NN cord-014712-5u4e00q6 2019 5 the the DT cord-014712-5u4e00q6 2019 6 girl girl NN cord-014712-5u4e00q6 2019 7 came come VBD cord-014712-5u4e00q6 2019 8 under under IN cord-014712-5u4e00q6 2019 9 our -PRON- PRP$ cord-014712-5u4e00q6 2019 10 observation observation NN cord-014712-5u4e00q6 2019 11 in in IN cord-014712-5u4e00q6 2019 12 the the DT cord-014712-5u4e00q6 2019 13 children child NNS cord-014712-5u4e00q6 2019 14 's 's POS cord-014712-5u4e00q6 2019 15 hospital hospital NN cord-014712-5u4e00q6 2019 16 in in IN cord-014712-5u4e00q6 2019 17 Chelyabinsk Chelyabinsk NNP cord-014712-5u4e00q6 2019 18 ( ( -LRB- cord-014712-5u4e00q6 2019 19 Russia Russia NNP cord-014712-5u4e00q6 2019 20 ) ) -RRB- cord-014712-5u4e00q6 2019 21 at at IN cord-014712-5u4e00q6 2019 22 the the DT cord-014712-5u4e00q6 2019 23 age age NN cord-014712-5u4e00q6 2019 24 of of IN cord-014712-5u4e00q6 2019 25 3 3 CD cord-014712-5u4e00q6 2019 26 years year NNS cord-014712-5u4e00q6 2019 27 with with IN cord-014712-5u4e00q6 2019 28 right right JJ cord-014712-5u4e00q6 2019 29 segmental segmental JJ cord-014712-5u4e00q6 2019 30 pneumonia pneumonia NN cord-014712-5u4e00q6 2019 31 , , , cord-014712-5u4e00q6 2019 32 complicated complicate VBN cord-014712-5u4e00q6 2019 33 by by IN cord-014712-5u4e00q6 2019 34 the the DT cord-014712-5u4e00q6 2019 35 destruction destruction NN cord-014712-5u4e00q6 2019 36 . . . cord-014712-5u4e00q6 2020 1 After after IN cord-014712-5u4e00q6 2020 2 further further JJ cord-014712-5u4e00q6 2020 3 examination examination NN cord-014712-5u4e00q6 2020 4 it -PRON- PRP cord-014712-5u4e00q6 2020 5 was be VBD cord-014712-5u4e00q6 2020 6 diagnosed diagnose VBN cord-014712-5u4e00q6 2020 7 tuberculosis tuberculosis NN cord-014712-5u4e00q6 2020 8 of of IN cord-014712-5u4e00q6 2020 9 intrathoracic intrathoracic JJ cord-014712-5u4e00q6 2020 10 lymph lymph NN cord-014712-5u4e00q6 2020 11 nodes node NNS cord-014712-5u4e00q6 2020 12 to to IN cord-014712-5u4e00q6 2020 13 the the DT cord-014712-5u4e00q6 2020 14 right right NN cord-014712-5u4e00q6 2020 15 with with IN cord-014712-5u4e00q6 2020 16 upper upper JJ cord-014712-5u4e00q6 2020 17 lobe lobe NNP cord-014712-5u4e00q6 2020 18 bronchopulmonary bronchopulmonary NNP cord-014712-5u4e00q6 2020 19 defeat defeat NN cord-014712-5u4e00q6 2020 20 . . . cord-014712-5u4e00q6 2021 1 To to TO cord-014712-5u4e00q6 2021 2 take take VB cord-014712-5u4e00q6 2021 3 into into IN cord-014712-5u4e00q6 2021 4 consideration consideration NN cord-014712-5u4e00q6 2021 5 given give VBN cord-014712-5u4e00q6 2021 6 above above RB cord-014712-5u4e00q6 2021 7 , , , cord-014712-5u4e00q6 2021 8 it -PRON- PRP cord-014712-5u4e00q6 2021 9 was be VBD cord-014712-5u4e00q6 2021 10 conducted conduct VBN cord-014712-5u4e00q6 2021 11 immunological immunological JJ cord-014712-5u4e00q6 2021 12 test test NN cord-014712-5u4e00q6 2021 13 that that WDT cord-014712-5u4e00q6 2021 14 revealed reveal VBD cord-014712-5u4e00q6 2021 15 a a DT cord-014712-5u4e00q6 2021 16 complete complete JJ cord-014712-5u4e00q6 2021 17 lack lack NN cord-014712-5u4e00q6 2021 18 of of IN cord-014712-5u4e00q6 2021 19 production production NN cord-014712-5u4e00q6 2021 20 of of IN cord-014712-5u4e00q6 2021 21 reactive reactive JJ cord-014712-5u4e00q6 2021 22 oxygen oxygen NN cord-014712-5u4e00q6 2021 23 species specie NNS cord-014712-5u4e00q6 2021 24 by by IN cord-014712-5u4e00q6 2021 25 neutrophils neutrophil NNS cord-014712-5u4e00q6 2021 26 in in IN cord-014712-5u4e00q6 2021 27 the the DT cord-014712-5u4e00q6 2021 28 evaluation evaluation NN cord-014712-5u4e00q6 2021 29 of of IN cord-014712-5u4e00q6 2021 30 NBT NBT NNP cord-014712-5u4e00q6 2021 31 - - HYPH cord-014712-5u4e00q6 2021 32 test test NN cord-014712-5u4e00q6 2021 33 . . . cord-014712-5u4e00q6 2022 1 On on IN cord-014712-5u4e00q6 2022 2 the the DT cord-014712-5u4e00q6 2022 3 basis basis NN cord-014712-5u4e00q6 2022 4 of of IN cord-014712-5u4e00q6 2022 5 the the DT cord-014712-5u4e00q6 2022 6 history history NN cord-014712-5u4e00q6 2022 7 , , , cord-014712-5u4e00q6 2022 8 clinical clinical JJ cord-014712-5u4e00q6 2022 9 manifestations manifestation NNS cord-014712-5u4e00q6 2022 10 and and CC cord-014712-5u4e00q6 2022 11 results result NNS cord-014712-5u4e00q6 2022 12 of of IN cord-014712-5u4e00q6 2022 13 immunological immunological JJ cord-014712-5u4e00q6 2022 14 examination examination NN cord-014712-5u4e00q6 2022 15 chronic chronic JJ cord-014712-5u4e00q6 2022 16 granulomatous granulomatous JJ cord-014712-5u4e00q6 2022 17 disease disease NN cord-014712-5u4e00q6 2022 18 was be VBD cord-014712-5u4e00q6 2022 19 diagnosed diagnose VBN cord-014712-5u4e00q6 2022 20 . . . cord-014712-5u4e00q6 2023 1 After after IN cord-014712-5u4e00q6 2023 2 fourmonth fourmonth JJ cord-014712-5u4e00q6 2023 3 period period NN cord-014712-5u4e00q6 2023 4 treatment treatment NN cord-014712-5u4e00q6 2023 5 a a DT cord-014712-5u4e00q6 2023 6 recovery recovery NN cord-014712-5u4e00q6 2023 7 came come VBD cord-014712-5u4e00q6 2023 8 from from IN cord-014712-5u4e00q6 2023 9 tuberculosis tuberculosis NN cord-014712-5u4e00q6 2023 10 and and CC cord-014712-5u4e00q6 2023 11 child child NN cord-014712-5u4e00q6 2023 12 was be VBD cord-014712-5u4e00q6 2023 13 transferred transfer VBN cord-014712-5u4e00q6 2023 14 to to IN cord-014712-5u4e00q6 2023 15 outpatient outpatient NN cord-014712-5u4e00q6 2023 16 monitoring monitoring NN cord-014712-5u4e00q6 2023 17 . . . cord-014712-5u4e00q6 2024 1 In in IN cord-014712-5u4e00q6 2024 2 2 2 CD cord-014712-5u4e00q6 2024 3 years year NNS cord-014712-5u4e00q6 2024 4 in in IN cord-014712-5u4e00q6 2024 5 this this DT cord-014712-5u4e00q6 2024 6 family family NN cord-014712-5u4e00q6 2024 7 a a DT cord-014712-5u4e00q6 2024 8 second second JJ cord-014712-5u4e00q6 2024 9 daughter daughter NN cord-014712-5u4e00q6 2024 10 was be VBD cord-014712-5u4e00q6 2024 11 born bear VBN cord-014712-5u4e00q6 2024 12 -Arina -Arina . cord-014712-5u4e00q6 2024 13 N. N. NNP cord-014712-5u4e00q6 2024 14 Taking take VBG cord-014712-5u4e00q6 2024 15 into into IN cord-014712-5u4e00q6 2024 16 account account NN cord-014712-5u4e00q6 2024 17 revealed reveal VBN cord-014712-5u4e00q6 2024 18 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 2024 19 of of IN cord-014712-5u4e00q6 2024 20 her -PRON- PRP$ cord-014712-5u4e00q6 2024 21 sister sister NN cord-014712-5u4e00q6 2024 22 , , , cord-014712-5u4e00q6 2024 23 the the DT cord-014712-5u4e00q6 2024 24 child child NN cord-014712-5u4e00q6 2024 25 was be VBD cord-014712-5u4e00q6 2024 26 not not RB cord-014712-5u4e00q6 2024 27 vaccinated vaccinate VBN cord-014712-5u4e00q6 2024 28 against against IN cord-014712-5u4e00q6 2024 29 tuberculosis tuberculosis NN cord-014712-5u4e00q6 2024 30 on on IN cord-014712-5u4e00q6 2024 31 our -PRON- PRP$ cord-014712-5u4e00q6 2024 32 recommendations recommendation NNS cord-014712-5u4e00q6 2024 33 . . . cord-014712-5u4e00q6 2025 1 A a DT cord-014712-5u4e00q6 2025 2 six six CD cord-014712-5u4e00q6 2025 3 - - HYPH cord-014712-5u4e00q6 2025 4 month month NN cord-014712-5u4e00q6 2025 5 - - HYPH cord-014712-5u4e00q6 2025 6 old old JJ cord-014712-5u4e00q6 2025 7 child child NN cord-014712-5u4e00q6 2025 8 was be VBD cord-014712-5u4e00q6 2025 9 conducted conduct VBN cord-014712-5u4e00q6 2025 10 immunological immunological JJ cord-014712-5u4e00q6 2025 11 examination examination NN cord-014712-5u4e00q6 2025 12 , , , cord-014712-5u4e00q6 2025 13 which which WDT cord-014712-5u4e00q6 2025 14 , , , cord-014712-5u4e00q6 2025 15 like like IN cord-014712-5u4e00q6 2025 16 her -PRON- PRP$ cord-014712-5u4e00q6 2025 17 older old JJR cord-014712-5u4e00q6 2025 18 sister sister NN cord-014712-5u4e00q6 2025 19 , , , cord-014712-5u4e00q6 2025 20 also also RB cord-014712-5u4e00q6 2025 21 shows show VBZ cord-014712-5u4e00q6 2025 22 a a DT cord-014712-5u4e00q6 2025 23 complete complete JJ cord-014712-5u4e00q6 2025 24 lack lack NN cord-014712-5u4e00q6 2025 25 of of IN cord-014712-5u4e00q6 2025 26 production production NN cord-014712-5u4e00q6 2025 27 of of IN cord-014712-5u4e00q6 2025 28 reactive reactive JJ cord-014712-5u4e00q6 2025 29 oxygen oxygen NN cord-014712-5u4e00q6 2025 30 species specie NNS cord-014712-5u4e00q6 2025 31 by by IN cord-014712-5u4e00q6 2025 32 neutrophils neutrophil NNS cord-014712-5u4e00q6 2025 33 in in IN cord-014712-5u4e00q6 2025 34 the the DT cord-014712-5u4e00q6 2025 35 evaluation evaluation NN cord-014712-5u4e00q6 2025 36 of of IN cord-014712-5u4e00q6 2025 37 NBT NBT NNP cord-014712-5u4e00q6 2025 38 - - HYPH cord-014712-5u4e00q6 2025 39 test test NN cord-014712-5u4e00q6 2025 40 . . . cord-014712-5u4e00q6 2026 1 During during IN cord-014712-5u4e00q6 2026 2 the the DT cord-014712-5u4e00q6 2026 3 molecular molecular JJ cord-014712-5u4e00q6 2026 4 genetic genetic JJ cord-014712-5u4e00q6 2026 5 studies study NNS cord-014712-5u4e00q6 2026 6 of of IN cord-014712-5u4e00q6 2026 7 both both DT cord-014712-5u4e00q6 2026 8 sisters sister NNS cord-014712-5u4e00q6 2026 9 it -PRON- PRP cord-014712-5u4e00q6 2026 10 was be VBD cord-014712-5u4e00q6 2026 11 identified identify VBN cord-014712-5u4e00q6 2026 12 identical identical JJ cord-014712-5u4e00q6 2026 13 mutation mutation NN cord-014712-5u4e00q6 2026 14 c. c. NNP cord-014712-5u4e00q6 2026 15 73 73 CD cord-014712-5u4e00q6 2026 16 - - SYM cord-014712-5u4e00q6 2026 17 74 74 CD cord-014712-5u4e00q6 2026 18 del del NNP cord-014712-5u4e00q6 2026 19 GT GT NNP cord-014712-5u4e00q6 2026 20 gene gene NN cord-014712-5u4e00q6 2026 21 NCF1 NCF1 NNP cord-014712-5u4e00q6 2026 22 ( ( -LRB- cord-014712-5u4e00q6 2026 23 encoding encode VBG cord-014712-5u4e00q6 2026 24 subunit subunit NN cord-014712-5u4e00q6 2026 25 p47phox p47phox NNP cord-014712-5u4e00q6 2026 26 ) ) -RRB- cord-014712-5u4e00q6 2026 27 . . . cord-014712-5u4e00q6 2027 1 Now now RB cord-014712-5u4e00q6 2027 2 the the DT cord-014712-5u4e00q6 2027 3 older old JJR cord-014712-5u4e00q6 2027 4 girl girl NN cord-014712-5u4e00q6 2027 5 is be VBZ cord-014712-5u4e00q6 2027 6 8 8 CD cord-014712-5u4e00q6 2027 7 and and CC cord-014712-5u4e00q6 2027 8 her -PRON- PRP$ cord-014712-5u4e00q6 2027 9 sister sister NN cord-014712-5u4e00q6 2027 10 is be VBZ cord-014712-5u4e00q6 2027 11 3 3 CD cord-014712-5u4e00q6 2027 12 years year NNS cord-014712-5u4e00q6 2027 13 old old JJ cord-014712-5u4e00q6 2027 14 . . . cord-014712-5u4e00q6 2028 1 Observing observe VBG cord-014712-5u4e00q6 2028 2 them -PRON- PRP cord-014712-5u4e00q6 2028 3 in in IN cord-014712-5u4e00q6 2028 4 the the DT cord-014712-5u4e00q6 2028 5 dynamics dynamic NNS cord-014712-5u4e00q6 2028 6 neither neither DT cord-014712-5u4e00q6 2028 7 of of IN cord-014712-5u4e00q6 2028 8 them -PRON- PRP cord-014712-5u4e00q6 2028 9 do do VBP cord-014712-5u4e00q6 2028 10 not not RB cord-014712-5u4e00q6 2028 11 show show VB cord-014712-5u4e00q6 2028 12 any any DT cord-014712-5u4e00q6 2028 13 life life NN cord-014712-5u4e00q6 2028 14 - - HYPH cord-014712-5u4e00q6 2028 15 threatening threaten VBG cord-014712-5u4e00q6 2028 16 infections infection NNS cord-014712-5u4e00q6 2028 17 . . . cord-014712-5u4e00q6 2029 1 Thus thus RB cord-014712-5u4e00q6 2029 2 , , , cord-014712-5u4e00q6 2029 3 the the DT cord-014712-5u4e00q6 2029 4 recovery recovery NN cord-014712-5u4e00q6 2029 5 test test NN cord-014712-5u4e00q6 2029 6 of of IN cord-014712-5u4e00q6 2029 7 nitrobluetetrazolium nitrobluetetrazolium NN cord-014712-5u4e00q6 2029 8 by by IN cord-014712-5u4e00q6 2029 9 superoxide superoxide NN cord-014712-5u4e00q6 2029 10 anion anion NN cord-014712-5u4e00q6 2029 11 formed form VBN cord-014712-5u4e00q6 2029 12 when when WRB cord-014712-5u4e00q6 2029 13 oxygen oxygen NN cord-014712-5u4e00q6 2029 14 explodes explode VBZ cord-014712-5u4e00q6 2029 15 in in IN cord-014712-5u4e00q6 2029 16 leukocyte leukocyte NN cord-014712-5u4e00q6 2029 17 ( ( -LRB- cord-014712-5u4e00q6 2029 18 nitro nitro NNP cord-014712-5u4e00q6 2029 19 blau blau NNP cord-014712-5u4e00q6 2029 20 tetrasolium tetrasolium NNP cord-014712-5u4e00q6 2029 21 -NBT -NBT -LRB- cord-014712-5u4e00q6 2029 22 - - HYPH cord-014712-5u4e00q6 2029 23 test test NN cord-014712-5u4e00q6 2029 24 ) ) -RRB- cord-014712-5u4e00q6 2029 25 is be VBZ cord-014712-5u4e00q6 2029 26 a a DT cord-014712-5u4e00q6 2029 27 fairly fairly RB cord-014712-5u4e00q6 2029 28 reliable reliable JJ cord-014712-5u4e00q6 2029 29 method method NN cord-014712-5u4e00q6 2029 30 of of IN cord-014712-5u4e00q6 2029 31 early early JJ cord-014712-5u4e00q6 2029 32 diagnosis diagnosis NN cord-014712-5u4e00q6 2029 33 of of IN cord-014712-5u4e00q6 2029 34 chronic chronic JJ cord-014712-5u4e00q6 2029 35 granulomatous granulomatous JJ cord-014712-5u4e00q6 2029 36 disease disease NN cord-014712-5u4e00q6 2029 37 . . . cord-014712-5u4e00q6 2030 1 Chronic chronic JJ cord-014712-5u4e00q6 2030 2 granolomatous granolomatous JJ cord-014712-5u4e00q6 2030 3 disease disease NN cord-014712-5u4e00q6 2030 4 ( ( -LRB- cord-014712-5u4e00q6 2030 5 CGD CGD NNP cord-014712-5u4e00q6 2030 6 ) ) -RRB- cord-014712-5u4e00q6 2030 7 is be VBZ cord-014712-5u4e00q6 2030 8 due due JJ cord-014712-5u4e00q6 2030 9 to to IN cord-014712-5u4e00q6 2030 10 defective defective JJ cord-014712-5u4e00q6 2030 11 phagocyte phagocyte NN cord-014712-5u4e00q6 2030 12 superoxide superoxide NN cord-014712-5u4e00q6 2030 13 production production NN cord-014712-5u4e00q6 2030 14 leading lead VBG cord-014712-5u4e00q6 2030 15 to to IN cord-014712-5u4e00q6 2030 16 impaired impaired JJ cord-014712-5u4e00q6 2030 17 microbial microbial JJ cord-014712-5u4e00q6 2030 18 killing killing NN cord-014712-5u4e00q6 2030 19 . . . cord-014712-5u4e00q6 2031 1 It -PRON- PRP cord-014712-5u4e00q6 2031 2 is be VBZ cord-014712-5u4e00q6 2031 3 comprised comprise VBN cord-014712-5u4e00q6 2031 4 of of IN cord-014712-5u4e00q6 2031 5 a a DT cord-014712-5u4e00q6 2031 6 group group NN cord-014712-5u4e00q6 2031 7 of of IN cord-014712-5u4e00q6 2031 8 five five CD cord-014712-5u4e00q6 2031 9 genotypes genotype NNS cord-014712-5u4e00q6 2031 10 with with IN cord-014712-5u4e00q6 2031 11 a a DT cord-014712-5u4e00q6 2031 12 common common JJ cord-014712-5u4e00q6 2031 13 phenotype phenotype NN cord-014712-5u4e00q6 2031 14 , , , cord-014712-5u4e00q6 2031 15 chracterized chracterize VBN cord-014712-5u4e00q6 2031 16 by by IN cord-014712-5u4e00q6 2031 17 recurrent recurrent JJ cord-014712-5u4e00q6 2031 18 severe severe JJ cord-014712-5u4e00q6 2031 19 bacterial bacterial JJ cord-014712-5u4e00q6 2031 20 and and CC cord-014712-5u4e00q6 2031 21 fungal fungal JJ cord-014712-5u4e00q6 2031 22 infections infection NNS cord-014712-5u4e00q6 2031 23 and and CC cord-014712-5u4e00q6 2031 24 tissue tissue NN cord-014712-5u4e00q6 2031 25 granuloma granuloma NN cord-014712-5u4e00q6 2031 26 formation formation NN cord-014712-5u4e00q6 2031 27 . . . cord-014712-5u4e00q6 2032 1 Patients patient NNS cord-014712-5u4e00q6 2032 2 with with IN cord-014712-5u4e00q6 2032 3 CGD CGD NNP cord-014712-5u4e00q6 2032 4 often often RB cord-014712-5u4e00q6 2032 5 present present JJ cord-014712-5u4e00q6 2032 6 with with IN cord-014712-5u4e00q6 2032 7 pneumonia pneumonia NN cord-014712-5u4e00q6 2032 8 , , , cord-014712-5u4e00q6 2032 9 liver liver NN cord-014712-5u4e00q6 2032 10 abscess abscess NN cord-014712-5u4e00q6 2032 11 , , , cord-014712-5u4e00q6 2032 12 skin skin NN cord-014712-5u4e00q6 2032 13 infections infection NNS cord-014712-5u4e00q6 2032 14 , , , cord-014712-5u4e00q6 2032 15 lymphadenitis lymphadenitis NN cord-014712-5u4e00q6 2032 16 , , , cord-014712-5u4e00q6 2032 17 osteomyelitis osteomyelitis NN cord-014712-5u4e00q6 2032 18 . . . cord-014712-5u4e00q6 2033 1 A a DT cord-014712-5u4e00q6 2033 2 five five CD cord-014712-5u4e00q6 2033 3 month month NN cord-014712-5u4e00q6 2033 4 old old JJ cord-014712-5u4e00q6 2033 5 boy boy NN cord-014712-5u4e00q6 2033 6 was be VBD cord-014712-5u4e00q6 2033 7 referred refer VBN cord-014712-5u4e00q6 2033 8 to to IN cord-014712-5u4e00q6 2033 9 pediatric pediatric JJ cord-014712-5u4e00q6 2033 10 infection infection NN cord-014712-5u4e00q6 2033 11 unit unit NN cord-014712-5u4e00q6 2033 12 by by IN cord-014712-5u4e00q6 2033 13 lymphadenitis lymphadenitis NNP cord-014712-5u4e00q6 2033 14 . . . cord-014712-5u4e00q6 2034 1 On on IN cord-014712-5u4e00q6 2034 2 the the DT cord-014712-5u4e00q6 2034 3 medical medical JJ cord-014712-5u4e00q6 2034 4 history history NN cord-014712-5u4e00q6 2034 5 , , , cord-014712-5u4e00q6 2034 6 he -PRON- PRP cord-014712-5u4e00q6 2034 7 had have VBD cord-014712-5u4e00q6 2034 8 taken take VBN cord-014712-5u4e00q6 2034 9 antibiotic antibiotic JJ cord-014712-5u4e00q6 2034 10 therapy therapy NN cord-014712-5u4e00q6 2034 11 for for IN cord-014712-5u4e00q6 2034 12 lymphadenopathy lymphadenopathy NN cord-014712-5u4e00q6 2034 13 when when WRB cord-014712-5u4e00q6 2034 14 he -PRON- PRP cord-014712-5u4e00q6 2034 15 was be VBD cord-014712-5u4e00q6 2034 16 2 2 CD cord-014712-5u4e00q6 2034 17 months month NNS cord-014712-5u4e00q6 2034 18 old old JJ cord-014712-5u4e00q6 2034 19 . . . cord-014712-5u4e00q6 2035 1 The the DT cord-014712-5u4e00q6 2035 2 abnormal abnormal JJ cord-014712-5u4e00q6 2035 3 eye eye NN cord-014712-5u4e00q6 2035 4 movement movement NN cord-014712-5u4e00q6 2035 5 was be VBD cord-014712-5u4e00q6 2035 6 noticed notice VBN cord-014712-5u4e00q6 2035 7 by by IN cord-014712-5u4e00q6 2035 8 the the DT cord-014712-5u4e00q6 2035 9 family family NN cord-014712-5u4e00q6 2035 10 and and CC cord-014712-5u4e00q6 2035 11 on on IN cord-014712-5u4e00q6 2035 12 the the DT cord-014712-5u4e00q6 2035 13 eye eye NN cord-014712-5u4e00q6 2035 14 examination examination NN cord-014712-5u4e00q6 2035 15 peripheric peripheric JJ cord-014712-5u4e00q6 2035 16 chorioretinal chorioretinal NNP cord-014712-5u4e00q6 2035 17 hypopigmented hypopigmente VBN cord-014712-5u4e00q6 2035 18 lesions lesion NNS cord-014712-5u4e00q6 2035 19 were be VBD cord-014712-5u4e00q6 2035 20 determined determine VBN cord-014712-5u4e00q6 2035 21 when when WRB cord-014712-5u4e00q6 2035 22 he -PRON- PRP cord-014712-5u4e00q6 2035 23 was be VBD cord-014712-5u4e00q6 2035 24 4 4 CD cord-014712-5u4e00q6 2035 25 months month NNS cord-014712-5u4e00q6 2035 26 old old JJ cord-014712-5u4e00q6 2035 27 . . . cord-014712-5u4e00q6 2036 1 İn i̇n VB cord-014712-5u4e00q6 2036 2 his -PRON- PRP$ cord-014712-5u4e00q6 2036 3 labratory labratory NN cord-014712-5u4e00q6 2036 4 examination examination NN cord-014712-5u4e00q6 2036 5 , , , cord-014712-5u4e00q6 2036 6 viral viral JJ cord-014712-5u4e00q6 2036 7 serology serology NN cord-014712-5u4e00q6 2036 8 were be VBD cord-014712-5u4e00q6 2036 9 negative negative JJ cord-014712-5u4e00q6 2036 10 . . . cord-014712-5u4e00q6 2037 1 His -PRON- PRP$ cord-014712-5u4e00q6 2037 2 parents parent NNS cord-014712-5u4e00q6 2037 3 were be VBD cord-014712-5u4e00q6 2037 4 not not RB cord-014712-5u4e00q6 2037 5 consanguineous consanguineous JJ cord-014712-5u4e00q6 2037 6 . . . cord-014712-5u4e00q6 2038 1 His -PRON- PRP$ cord-014712-5u4e00q6 2038 2 mother mother NN cord-014712-5u4e00q6 2038 3 's 's POS cord-014712-5u4e00q6 2038 4 brother brother NN cord-014712-5u4e00q6 2038 5 had have VBD cord-014712-5u4e00q6 2038 6 died die VBN cord-014712-5u4e00q6 2038 7 at at IN cord-014712-5u4e00q6 2038 8 3 3 CD cord-014712-5u4e00q6 2038 9 years year NNS cord-014712-5u4e00q6 2038 10 old old JJ cord-014712-5u4e00q6 2038 11 . . . cord-014712-5u4e00q6 2039 1 He -PRON- PRP cord-014712-5u4e00q6 2039 2 had have VBD cord-014712-5u4e00q6 2039 3 history history NN cord-014712-5u4e00q6 2039 4 of of IN cord-014712-5u4e00q6 2039 5 skin skin NN cord-014712-5u4e00q6 2039 6 infections infection NNS cord-014712-5u4e00q6 2039 7 and and CC cord-014712-5u4e00q6 2039 8 osteomyelitis osteomyelitis NN cord-014712-5u4e00q6 2039 9 . . . cord-014712-5u4e00q6 2040 1 His -PRON- PRP$ cord-014712-5u4e00q6 2040 2 grandmother grandmother NN cord-014712-5u4e00q6 2040 3 had have VBD cord-014712-5u4e00q6 2040 4 been be VBN cord-014712-5u4e00q6 2040 5 diagnosed diagnose VBN cord-014712-5u4e00q6 2040 6 as as IN cord-014712-5u4e00q6 2040 7 having have VBG cord-014712-5u4e00q6 2040 8 tuberculosis tuberculosis NN cord-014712-5u4e00q6 2040 9 lymphadenitis lymphadenitis NNP cord-014712-5u4e00q6 2040 10 one one CD cord-014712-5u4e00q6 2040 11 year year NN cord-014712-5u4e00q6 2040 12 ago ago RB cord-014712-5u4e00q6 2040 13 . . . cord-014712-5u4e00q6 2041 1 On on IN cord-014712-5u4e00q6 2041 2 his -PRON- PRP$ cord-014712-5u4e00q6 2041 3 physical physical JJ cord-014712-5u4e00q6 2041 4 examination examination NN cord-014712-5u4e00q6 2041 5 , , , cord-014712-5u4e00q6 2041 6 his -PRON- PRP$ cord-014712-5u4e00q6 2041 7 growth growth NN cord-014712-5u4e00q6 2041 8 was be VBD cord-014712-5u4e00q6 2041 9 normal normal JJ cord-014712-5u4e00q6 2041 10 , , , cord-014712-5u4e00q6 2041 11 patological patological JJ cord-014712-5u4e00q6 2041 12 findings finding NNS cord-014712-5u4e00q6 2041 13 were be VBD cord-014712-5u4e00q6 2041 14 horizontal horizontal JJ cord-014712-5u4e00q6 2041 15 nistagmus nistagmus NNP cord-014712-5u4e00q6 2041 16 , , , cord-014712-5u4e00q6 2041 17 2/6 2/6 CD cord-014712-5u4e00q6 2041 18 degree degree NN cord-014712-5u4e00q6 2041 19 systolic systolic JJ cord-014712-5u4e00q6 2041 20 murmur murmur NN cord-014712-5u4e00q6 2041 21 , , , cord-014712-5u4e00q6 2041 22 fistulized fistulize VBN cord-014712-5u4e00q6 2041 23 lymph lymph NN cord-014712-5u4e00q6 2041 24 tissue tissue NN cord-014712-5u4e00q6 2041 25 on on IN cord-014712-5u4e00q6 2041 26 the the DT cord-014712-5u4e00q6 2041 27 left left JJ cord-014712-5u4e00q6 2041 28 submandibuler submandibuler NN cord-014712-5u4e00q6 2041 29 region region NN cord-014712-5u4e00q6 2041 30 . . . cord-014712-5u4e00q6 2042 1 On on IN cord-014712-5u4e00q6 2042 2 the the DT cord-014712-5u4e00q6 2042 3 laboratory laboratory NN cord-014712-5u4e00q6 2042 4 findings finding NNS cord-014712-5u4e00q6 2042 5 ; ; : cord-014712-5u4e00q6 2042 6 he -PRON- PRP cord-014712-5u4e00q6 2042 7 had have VBD cord-014712-5u4e00q6 2042 8 anemia anemia NN cord-014712-5u4e00q6 2042 9 and and CC cord-014712-5u4e00q6 2042 10 neutropenia neutropenia NN cord-014712-5u4e00q6 2042 11 . . . cord-014712-5u4e00q6 2043 1 Immunglobulin Immunglobulin NNP cord-014712-5u4e00q6 2043 2 levels level NNS cord-014712-5u4e00q6 2043 3 and and CC cord-014712-5u4e00q6 2043 4 lymphocyte lymphocyte NN cord-014712-5u4e00q6 2043 5 subtypes subtype NNS cord-014712-5u4e00q6 2043 6 were be VBD cord-014712-5u4e00q6 2043 7 normal normal JJ cord-014712-5u4e00q6 2043 8 . . . cord-014712-5u4e00q6 2044 1 His -PRON- PRP$ cord-014712-5u4e00q6 2044 2 respiratory respiratory JJ cord-014712-5u4e00q6 2044 3 burst burst NN cord-014712-5u4e00q6 2044 4 activity activity NN cord-014712-5u4e00q6 2044 5 was be VBD cord-014712-5u4e00q6 2044 6 very very RB cord-014712-5u4e00q6 2044 7 low low JJ cord-014712-5u4e00q6 2044 8 . . . cord-014712-5u4e00q6 2045 1 Chronic chronic JJ cord-014712-5u4e00q6 2045 2 granulamatous granulamatous JJ cord-014712-5u4e00q6 2045 3 disease disease NN cord-014712-5u4e00q6 2045 4 was be VBD cord-014712-5u4e00q6 2045 5 thougth thougth VBN cord-014712-5u4e00q6 2045 6 in in IN cord-014712-5u4e00q6 2045 7 the the DT cord-014712-5u4e00q6 2045 8 patient patient NN cord-014712-5u4e00q6 2045 9 by by IN cord-014712-5u4e00q6 2045 10 the the DT cord-014712-5u4e00q6 2045 11 clinical clinical JJ cord-014712-5u4e00q6 2045 12 and and CC cord-014712-5u4e00q6 2045 13 laboratory laboratory NN cord-014712-5u4e00q6 2045 14 findings finding NNS cord-014712-5u4e00q6 2045 15 . . . cord-014712-5u4e00q6 2046 1 İt i̇t PRP cord-014712-5u4e00q6 2046 2 was be VBD cord-014712-5u4e00q6 2046 3 detected detect VBN cord-014712-5u4e00q6 2046 4 gp91phox gp91phox JJ cord-014712-5u4e00q6 2046 5 mutation mutation NN cord-014712-5u4e00q6 2046 6 in in IN cord-014712-5u4e00q6 2046 7 the the DT cord-014712-5u4e00q6 2046 8 genetical genetical JJ cord-014712-5u4e00q6 2046 9 analysis analysis NN cord-014712-5u4e00q6 2046 10 . . . cord-014712-5u4e00q6 2047 1 He -PRON- PRP cord-014712-5u4e00q6 2047 2 was be VBD cord-014712-5u4e00q6 2047 3 diagnosed diagnose VBN cord-014712-5u4e00q6 2047 4 as as IN cord-014712-5u4e00q6 2047 5 having have VBG cord-014712-5u4e00q6 2047 6 X x NN cord-014712-5u4e00q6 2047 7 - - HYPH cord-014712-5u4e00q6 2047 8 linked link VBN cord-014712-5u4e00q6 2047 9 CGD CGD NNP cord-014712-5u4e00q6 2047 10 . . . cord-014712-5u4e00q6 2048 1 Antibiotic antibiotic JJ cord-014712-5u4e00q6 2048 2 prophylaxis prophylaxis NN cord-014712-5u4e00q6 2048 3 ( ( -LRB- cord-014712-5u4e00q6 2048 4 tmpsmx tmpsmx NNP cord-014712-5u4e00q6 2048 5 , , , cord-014712-5u4e00q6 2048 6 flucanazol flucanazol NNP cord-014712-5u4e00q6 2048 7 ) ) -RRB- cord-014712-5u4e00q6 2048 8 and and CC cord-014712-5u4e00q6 2048 9 interferon interferon NN cord-014712-5u4e00q6 2048 10 gamma gamma NNP cord-014712-5u4e00q6 2048 11 were be VBD cord-014712-5u4e00q6 2048 12 started start VBN cord-014712-5u4e00q6 2048 13 . . . cord-014712-5u4e00q6 2049 1 He -PRON- PRP cord-014712-5u4e00q6 2049 2 is be VBZ cord-014712-5u4e00q6 2049 3 14 14 CD cord-014712-5u4e00q6 2049 4 months month NNS cord-014712-5u4e00q6 2049 5 old old JJ cord-014712-5u4e00q6 2049 6 now now RB cord-014712-5u4e00q6 2050 1 and and CC cord-014712-5u4e00q6 2050 2 he -PRON- PRP cord-014712-5u4e00q6 2050 3 is be VBZ cord-014712-5u4e00q6 2050 4 on on IN cord-014712-5u4e00q6 2050 5 the the DT cord-014712-5u4e00q6 2050 6 list list NN cord-014712-5u4e00q6 2050 7 of of IN cord-014712-5u4e00q6 2050 8 match match VB cord-014712-5u4e00q6 2050 9 unrelated unrelated JJ cord-014712-5u4e00q6 2050 10 donor donor NN cord-014712-5u4e00q6 2050 11 screening screening NN cord-014712-5u4e00q6 2050 12 . . . cord-014712-5u4e00q6 2051 1 Patiens Patiens NNP cord-014712-5u4e00q6 2051 2 who who WP cord-014712-5u4e00q6 2051 3 has have VBZ cord-014712-5u4e00q6 2051 4 history history NN cord-014712-5u4e00q6 2051 5 of of IN cord-014712-5u4e00q6 2051 6 lympadenitis lympadenitis NNP cord-014712-5u4e00q6 2051 7 , , , cord-014712-5u4e00q6 2051 8 skin skin NN cord-014712-5u4e00q6 2051 9 infections infection NNS cord-014712-5u4e00q6 2051 10 and and CC cord-014712-5u4e00q6 2051 11 chorioretinal chorioretinal JJ cord-014712-5u4e00q6 2051 12 findings finding NNS cord-014712-5u4e00q6 2051 13 should should MD cord-014712-5u4e00q6 2051 14 be be VB cord-014712-5u4e00q6 2051 15 evaulated evaulate VBN cord-014712-5u4e00q6 2051 16 for for IN cord-014712-5u4e00q6 2051 17 the the DT cord-014712-5u4e00q6 2051 18 X X NNP cord-014712-5u4e00q6 2051 19 - - NN cord-014712-5u4e00q6 2051 20 CGD CGD NNP cord-014712-5u4e00q6 2051 21 . . . cord-014712-5u4e00q6 2052 1 Leucocyte Leucocyte NNP cord-014712-5u4e00q6 2052 2 adhesion adhesion NN cord-014712-5u4e00q6 2052 3 deficiencies deficiency NNS cord-014712-5u4e00q6 2052 4 ( ( -LRB- cord-014712-5u4e00q6 2052 5 LADs lad NNS cord-014712-5u4e00q6 2052 6 ) ) -RRB- cord-014712-5u4e00q6 2052 7 are be VBP cord-014712-5u4e00q6 2052 8 rare rare JJ cord-014712-5u4e00q6 2052 9 autosomal autosomal JJ cord-014712-5u4e00q6 2052 10 recessive recessive JJ cord-014712-5u4e00q6 2052 11 inherited inherit VBN cord-014712-5u4e00q6 2052 12 disorders disorder NNS cord-014712-5u4e00q6 2052 13 . . . cord-014712-5u4e00q6 2053 1 Three three CD cord-014712-5u4e00q6 2053 2 different different JJ cord-014712-5u4e00q6 2053 3 forms form NNS cord-014712-5u4e00q6 2053 4 of of IN cord-014712-5u4e00q6 2053 5 LADs lad NNS cord-014712-5u4e00q6 2053 6 have have VBP cord-014712-5u4e00q6 2053 7 been be VBN cord-014712-5u4e00q6 2053 8 described describe VBN cord-014712-5u4e00q6 2053 9 so so RB cord-014712-5u4e00q6 2053 10 far far RB cord-014712-5u4e00q6 2053 11 . . . cord-014712-5u4e00q6 2054 1 In in IN cord-014712-5u4e00q6 2054 2 LAD lad NN cord-014712-5u4e00q6 2054 3 - - HYPH cord-014712-5u4e00q6 2054 4 I I NNP cord-014712-5u4e00q6 2054 5 , , , cord-014712-5u4e00q6 2054 6 the the DT cord-014712-5u4e00q6 2054 7 most most RBS cord-014712-5u4e00q6 2054 8 common common JJ cord-014712-5u4e00q6 2054 9 leucocyte leucocyte JJ cord-014712-5u4e00q6 2054 10 adhesion adhesion NN cord-014712-5u4e00q6 2054 11 deficiency deficiency NN cord-014712-5u4e00q6 2054 12 , , , cord-014712-5u4e00q6 2054 13 the the DT cord-014712-5u4e00q6 2054 14 function function NN cord-014712-5u4e00q6 2054 15 of of IN cord-014712-5u4e00q6 2054 16 β2 β2 NN cord-014712-5u4e00q6 2054 17 integrin integrin VBD cord-014712-5u4e00q6 2054 18 CD18 CD18 NNP cord-014712-5u4e00q6 2054 19 is be VBZ cord-014712-5u4e00q6 2054 20 lost lose VBN cord-014712-5u4e00q6 2054 21 . . . cord-014712-5u4e00q6 2054 22 . . . cord-014712-5u4e00q6 2055 1 While while IN cord-014712-5u4e00q6 2055 2 one one CD cord-014712-5u4e00q6 2055 3 of of IN cord-014712-5u4e00q6 2055 4 the the DT cord-014712-5u4e00q6 2055 5 first first JJ cord-014712-5u4e00q6 2055 6 signs sign NNS cord-014712-5u4e00q6 2055 7 of of IN cord-014712-5u4e00q6 2055 8 the the DT cord-014712-5u4e00q6 2055 9 disease disease NN cord-014712-5u4e00q6 2055 10 consist consist VBP cord-014712-5u4e00q6 2055 11 in in IN cord-014712-5u4e00q6 2055 12 delayed delay VBN cord-014712-5u4e00q6 2055 13 separation separation NN cord-014712-5u4e00q6 2055 14 of of IN cord-014712-5u4e00q6 2055 15 the the DT cord-014712-5u4e00q6 2055 16 umblical umblical JJ cord-014712-5u4e00q6 2055 17 cord cord NN cord-014712-5u4e00q6 2055 18 , , , cord-014712-5u4e00q6 2055 19 severe severe JJ cord-014712-5u4e00q6 2055 20 infections infection NNS cord-014712-5u4e00q6 2055 21 already already RB cord-014712-5u4e00q6 2055 22 start start VBP cord-014712-5u4e00q6 2055 23 early early RB cord-014712-5u4e00q6 2055 24 during during IN cord-014712-5u4e00q6 2055 25 infancy infancy NN cord-014712-5u4e00q6 2055 26 . . . cord-014712-5u4e00q6 2056 1 Another another DT cord-014712-5u4e00q6 2056 2 feature feature NN cord-014712-5u4e00q6 2056 3 of of IN cord-014712-5u4e00q6 2056 4 LAD lad NN cord-014712-5u4e00q6 2056 5 - - : cord-014712-5u4e00q6 2056 6 I -PRON- PRP cord-014712-5u4e00q6 2056 7 includes include VBZ cord-014712-5u4e00q6 2056 8 impaired impaired JJ cord-014712-5u4e00q6 2056 9 wound wound NN cord-014712-5u4e00q6 2056 10 healing healing NN cord-014712-5u4e00q6 2056 11 . . . cord-014712-5u4e00q6 2057 1 Therefore therefore RB cord-014712-5u4e00q6 2057 2 , , , cord-014712-5u4e00q6 2057 3 mortality mortality NN cord-014712-5u4e00q6 2057 4 during during IN cord-014712-5u4e00q6 2057 5 infancy infancy NN cord-014712-5u4e00q6 2057 6 is be VBZ cord-014712-5u4e00q6 2057 7 high high JJ cord-014712-5u4e00q6 2057 8 . . . cord-014712-5u4e00q6 2058 1 A a DT cord-014712-5u4e00q6 2058 2 fifty fifty CD cord-014712-5u4e00q6 2058 3 day day NN cord-014712-5u4e00q6 2058 4 old old JJ cord-014712-5u4e00q6 2058 5 boy boy NN cord-014712-5u4e00q6 2058 6 was be VBD cord-014712-5u4e00q6 2058 7 referred refer VBN cord-014712-5u4e00q6 2058 8 to to IN cord-014712-5u4e00q6 2058 9 the the DT cord-014712-5u4e00q6 2058 10 hospital hospital NN cord-014712-5u4e00q6 2058 11 due due IN cord-014712-5u4e00q6 2058 12 to to IN cord-014712-5u4e00q6 2058 13 diarrhea diarrhea NN cord-014712-5u4e00q6 2058 14 and and CC cord-014712-5u4e00q6 2058 15 leukocytosis leukocytosis NN cord-014712-5u4e00q6 2058 16 . . . cord-014712-5u4e00q6 2059 1 The the DT cord-014712-5u4e00q6 2059 2 patient patient NN cord-014712-5u4e00q6 2059 3 was be VBD cord-014712-5u4e00q6 2059 4 delivered deliver VBN cord-014712-5u4e00q6 2059 5 following follow VBG cord-014712-5u4e00q6 2059 6 an an DT cord-014712-5u4e00q6 2059 7 uncomplicated uncomplicated JJ cord-014712-5u4e00q6 2059 8 full full JJ cord-014712-5u4e00q6 2059 9 term term NN cord-014712-5u4e00q6 2059 10 pregnancy pregnancy NN cord-014712-5u4e00q6 2059 11 . . . cord-014712-5u4e00q6 2060 1 The the DT cord-014712-5u4e00q6 2060 2 parents parent NNS cord-014712-5u4e00q6 2060 3 were be VBD cord-014712-5u4e00q6 2060 4 first first JJ cord-014712-5u4e00q6 2060 5 degree degree NN cord-014712-5u4e00q6 2060 6 cousins cousin NNS cord-014712-5u4e00q6 2060 7 . . . cord-014712-5u4e00q6 2061 1 Father Father NNP cord-014712-5u4e00q6 2061 2 's 's POS cord-014712-5u4e00q6 2061 3 brother brother NN cord-014712-5u4e00q6 2061 4 and and CC cord-014712-5u4e00q6 2061 5 mother mother NN cord-014712-5u4e00q6 2061 6 's 's POS cord-014712-5u4e00q6 2061 7 uncle uncle NN cord-014712-5u4e00q6 2061 8 had have VBD cord-014712-5u4e00q6 2061 9 died die VBN cord-014712-5u4e00q6 2061 10 during during IN cord-014712-5u4e00q6 2061 11 infancy infancy JJ cord-014712-5u4e00q6 2061 12 period period NN cord-014712-5u4e00q6 2061 13 . . . cord-014712-5u4e00q6 2062 1 His -PRON- PRP$ cord-014712-5u4e00q6 2062 2 umblical umblical JJ cord-014712-5u4e00q6 2062 3 cord cord NN cord-014712-5u4e00q6 2062 4 had have VBD cord-014712-5u4e00q6 2062 5 separated separate VBN cord-014712-5u4e00q6 2062 6 on on IN cord-014712-5u4e00q6 2062 7 the the DT cord-014712-5u4e00q6 2062 8 19th 19th JJ cord-014712-5u4e00q6 2062 9 day day NN cord-014712-5u4e00q6 2062 10 . . . cord-014712-5u4e00q6 2063 1 Patient Patient NNP cord-014712-5u4e00q6 2063 2 had have VBD cord-014712-5u4e00q6 2063 3 applied apply VBN cord-014712-5u4e00q6 2063 4 because because IN cord-014712-5u4e00q6 2063 5 of of IN cord-014712-5u4e00q6 2063 6 diarrhea diarrhea NN cord-014712-5u4e00q6 2063 7 by by IN cord-014712-5u4e00q6 2063 8 starting start VBG cord-014712-5u4e00q6 2063 9 in in IN cord-014712-5u4e00q6 2063 10 the the DT cord-014712-5u4e00q6 2063 11 first first JJ cord-014712-5u4e00q6 2063 12 days day NNS cord-014712-5u4e00q6 2063 13 of of IN cord-014712-5u4e00q6 2063 14 life life NN cord-014712-5u4e00q6 2063 15 and and CC cord-014712-5u4e00q6 2063 16 leukocytosis leukocytosis NN cord-014712-5u4e00q6 2063 17 was be VBD cord-014712-5u4e00q6 2063 18 detected detect VBN cord-014712-5u4e00q6 2063 19 ( ( -LRB- cord-014712-5u4e00q6 2063 20 61.000/ 61.000/ CD cord-014712-5u4e00q6 2063 21 mm mm NNP cord-014712-5u4e00q6 2063 22 3 3 CD cord-014712-5u4e00q6 2063 23 ) ) -RRB- cord-014712-5u4e00q6 2063 24 . . . cord-014712-5u4e00q6 2064 1 On on IN cord-014712-5u4e00q6 2064 2 the the DT cord-014712-5u4e00q6 2064 3 physical physical JJ cord-014712-5u4e00q6 2064 4 examination examination NN cord-014712-5u4e00q6 2064 5 , , , cord-014712-5u4e00q6 2064 6 his -PRON- PRP$ cord-014712-5u4e00q6 2064 7 body body NN cord-014712-5u4e00q6 2064 8 weight weight NN cord-014712-5u4e00q6 2064 9 was be VBD cord-014712-5u4e00q6 2064 10 5200 5200 CD cord-014712-5u4e00q6 2064 11 gr gr NN cord-014712-5u4e00q6 2064 12 ( ( -LRB- cord-014712-5u4e00q6 2064 13 10th 10th NN cord-014712-5u4e00q6 2064 14 to to IN cord-014712-5u4e00q6 2064 15 25th 25th JJ cord-014712-5u4e00q6 2064 16 percentile percentile NN cord-014712-5u4e00q6 2064 17 ) ) -RRB- cord-014712-5u4e00q6 2064 18 and and CC cord-014712-5u4e00q6 2064 19 his -PRON- PRP$ cord-014712-5u4e00q6 2064 20 height height NN cord-014712-5u4e00q6 2064 21 was be VBD cord-014712-5u4e00q6 2064 22 56 56 CD cord-014712-5u4e00q6 2064 23 cm cm NNS cord-014712-5u4e00q6 2064 24 ( ( -LRB- cord-014712-5u4e00q6 2064 25 10th 10th JJ cord-014712-5u4e00q6 2064 26 percentile percentile NN cord-014712-5u4e00q6 2064 27 ) ) -RRB- cord-014712-5u4e00q6 2064 28 . . . cord-014712-5u4e00q6 2065 1 There there EX cord-014712-5u4e00q6 2065 2 was be VBD cord-014712-5u4e00q6 2065 3 a a DT cord-014712-5u4e00q6 2065 4 granuloma granuloma NN cord-014712-5u4e00q6 2065 5 on on IN cord-014712-5u4e00q6 2065 6 the the DT cord-014712-5u4e00q6 2065 7 umbliculus umbliculus NNP cord-014712-5u4e00q6 2065 8 . . . cord-014712-5u4e00q6 2066 1 Other other JJ cord-014712-5u4e00q6 2066 2 systems system NNS cord-014712-5u4e00q6 2066 3 were be VBD cord-014712-5u4e00q6 2066 4 normal normal JJ cord-014712-5u4e00q6 2066 5 . . . cord-014712-5u4e00q6 2067 1 In in IN cord-014712-5u4e00q6 2067 2 the the DT cord-014712-5u4e00q6 2067 3 laboratory laboratory NN cord-014712-5u4e00q6 2067 4 examination examination NN cord-014712-5u4e00q6 2067 5 , , , cord-014712-5u4e00q6 2067 6 leukocyte leukocyte NN cord-014712-5u4e00q6 2067 7 count count NN cord-014712-5u4e00q6 2067 8 was be VBD cord-014712-5u4e00q6 2067 9 high high JJ cord-014712-5u4e00q6 2067 10 , , , cord-014712-5u4e00q6 2067 11 Immunoglobulins Immunoglobulins NNP cord-014712-5u4e00q6 2067 12 , , , cord-014712-5u4e00q6 2067 13 respiratory respiratory JJ cord-014712-5u4e00q6 2067 14 burst burst NN cord-014712-5u4e00q6 2067 15 activity activity NN cord-014712-5u4e00q6 2067 16 , , , cord-014712-5u4e00q6 2067 17 gaita gaita NNP cord-014712-5u4e00q6 2067 18 analysing analysing NN cord-014712-5u4e00q6 2067 19 and and CC cord-014712-5u4e00q6 2067 20 culture culture NN cord-014712-5u4e00q6 2067 21 were be VBD cord-014712-5u4e00q6 2067 22 normal normal JJ cord-014712-5u4e00q6 2067 23 . . . cord-014712-5u4e00q6 2068 1 In in IN cord-014712-5u4e00q6 2068 2 the the DT cord-014712-5u4e00q6 2068 3 lymphocyte lymphocyte NN cord-014712-5u4e00q6 2068 4 subtype subtype NN cord-014712-5u4e00q6 2068 5 analysing analyse VBG cord-014712-5u4e00q6 2068 6 , , , cord-014712-5u4e00q6 2068 7 CD19 CD19 NNP cord-014712-5u4e00q6 2068 8 + + CC cord-014712-5u4e00q6 2068 9 B b NN cord-014712-5u4e00q6 2068 10 cells cell NNS cord-014712-5u4e00q6 2068 11 ratio ratio NN cord-014712-5u4e00q6 2068 12 was be VBD cord-014712-5u4e00q6 2068 13 mildly mildly RB cord-014712-5u4e00q6 2068 14 low low JJ cord-014712-5u4e00q6 2068 15 . . . cord-014712-5u4e00q6 2069 1 CD18 CD18 NNP cord-014712-5u4e00q6 2069 2 , , , cord-014712-5u4e00q6 2069 3 CD11a CD11a NNS cord-014712-5u4e00q6 2069 4 , , , cord-014712-5u4e00q6 2069 5 CD11b CD11b NNPS cord-014712-5u4e00q6 2069 6 , , , cord-014712-5u4e00q6 2069 7 CD11c CD11c NNP cord-014712-5u4e00q6 2069 8 levels level NNS cord-014712-5u4e00q6 2069 9 were be VBD cord-014712-5u4e00q6 2069 10 found find VBN cord-014712-5u4e00q6 2069 11 to to TO cord-014712-5u4e00q6 2069 12 be be VB cord-014712-5u4e00q6 2069 13 very very RB cord-014712-5u4e00q6 2069 14 low low JJ cord-014712-5u4e00q6 2069 15 . . . cord-014712-5u4e00q6 2070 1 In in IN cord-014712-5u4e00q6 2070 2 the the DT cord-014712-5u4e00q6 2070 3 genetic genetic JJ cord-014712-5u4e00q6 2070 4 analysing analysing NN cord-014712-5u4e00q6 2070 5 , , , cord-014712-5u4e00q6 2070 6 it -PRON- PRP cord-014712-5u4e00q6 2070 7 was be VBD cord-014712-5u4e00q6 2070 8 detected detect VBN cord-014712-5u4e00q6 2070 9 two two CD cord-014712-5u4e00q6 2070 10 deleterious deleterious JJ cord-014712-5u4e00q6 2070 11 mutations mutation NNS cord-014712-5u4e00q6 2070 12 in in IN cord-014712-5u4e00q6 2070 13 the the DT cord-014712-5u4e00q6 2070 14 ITGB2 itgb2 NN cord-014712-5u4e00q6 2070 15 gene gene NN cord-014712-5u4e00q6 2070 16 . . . cord-014712-5u4e00q6 2071 1 Patient Patient NNP cord-014712-5u4e00q6 2071 2 had have VBD cord-014712-5u4e00q6 2071 3 been be VBN cord-014712-5u4e00q6 2071 4 diagnosed diagnose VBN cord-014712-5u4e00q6 2071 5 as as IN cord-014712-5u4e00q6 2071 6 LAD-1 LAD-1 NNP cord-014712-5u4e00q6 2071 7 . . . cord-014712-5u4e00q6 2072 1 He -PRON- PRP cord-014712-5u4e00q6 2072 2 treated treat VBD cord-014712-5u4e00q6 2072 3 by by IN cord-014712-5u4e00q6 2072 4 antibiotics antibiotic NNS cord-014712-5u4e00q6 2072 5 and and CC cord-014712-5u4e00q6 2072 6 then then RB cord-014712-5u4e00q6 2072 7 started start VBD cord-014712-5u4e00q6 2072 8 prophylactic prophylactic JJ cord-014712-5u4e00q6 2072 9 antibiotherapy antibiotherapy NNP cord-014712-5u4e00q6 2072 10 . . . cord-014712-5u4e00q6 2073 1 Family family NN cord-014712-5u4e00q6 2073 2 screened screen VBD cord-014712-5u4e00q6 2073 3 for for IN cord-014712-5u4e00q6 2073 4 tissue tissue NN cord-014712-5u4e00q6 2073 5 match match NN cord-014712-5u4e00q6 2073 6 . . . cord-014712-5u4e00q6 2074 1 His -PRON- PRP$ cord-014712-5u4e00q6 2074 2 older old JJR cord-014712-5u4e00q6 2074 3 sister sister NN cord-014712-5u4e00q6 2074 4 was be VBD cord-014712-5u4e00q6 2074 5 found find VBN cord-014712-5u4e00q6 2074 6 full full RB cord-014712-5u4e00q6 2074 7 matched match VBN cord-014712-5u4e00q6 2074 8 . . . cord-014712-5u4e00q6 2075 1 He -PRON- PRP cord-014712-5u4e00q6 2075 2 was be VBD cord-014712-5u4e00q6 2075 3 referred refer VBN cord-014712-5u4e00q6 2075 4 to to IN cord-014712-5u4e00q6 2075 5 transplantation transplantation NN cord-014712-5u4e00q6 2075 6 unit unit NN cord-014712-5u4e00q6 2075 7 . . . cord-014712-5u4e00q6 2076 1 It -PRON- PRP cord-014712-5u4e00q6 2076 2 was be VBD cord-014712-5u4e00q6 2076 3 applied apply VBN cord-014712-5u4e00q6 2076 4 bone bone NN cord-014712-5u4e00q6 2076 5 marrow marrow NN cord-014712-5u4e00q6 2076 6 transplantation transplantation NN cord-014712-5u4e00q6 2076 7 when when WRB cord-014712-5u4e00q6 2076 8 he -PRON- PRP cord-014712-5u4e00q6 2076 9 was be VBD cord-014712-5u4e00q6 2076 10 3 3 CD cord-014712-5u4e00q6 2076 11 months month NNS cord-014712-5u4e00q6 2076 12 old old JJ cord-014712-5u4e00q6 2076 13 . . . cord-014712-5u4e00q6 2077 1 Presence presence NN cord-014712-5u4e00q6 2077 2 of of IN cord-014712-5u4e00q6 2077 3 delayed delay VBN cord-014712-5u4e00q6 2077 4 umblical umblical JJ cord-014712-5u4e00q6 2077 5 cord cord NN cord-014712-5u4e00q6 2077 6 separation separation NN cord-014712-5u4e00q6 2077 7 and and CC cord-014712-5u4e00q6 2077 8 leucocytosis leucocytosis NNP cord-014712-5u4e00q6 2077 9 should should MD cord-014712-5u4e00q6 2077 10 be be VB cord-014712-5u4e00q6 2077 11 considered consider VBN cord-014712-5u4e00q6 2077 12 in in IN cord-014712-5u4e00q6 2077 13 the the DT cord-014712-5u4e00q6 2077 14 diagnosis diagnosis NN cord-014712-5u4e00q6 2077 15 of of IN cord-014712-5u4e00q6 2077 16 LAD lad NN cord-014712-5u4e00q6 2077 17 but but CC cord-014712-5u4e00q6 2077 18 these these DT cord-014712-5u4e00q6 2077 19 patients patient NNS cord-014712-5u4e00q6 2077 20 might may MD cord-014712-5u4e00q6 2077 21 have have VB cord-014712-5u4e00q6 2077 22 different different JJ cord-014712-5u4e00q6 2077 23 symptoms symptom NNS cord-014712-5u4e00q6 2077 24 such such JJ cord-014712-5u4e00q6 2077 25 as as IN cord-014712-5u4e00q6 2077 26 diarrea diarrea NNP cord-014712-5u4e00q6 2077 27 . . . cord-014712-5u4e00q6 2078 1 Mendelian mendelian JJ cord-014712-5u4e00q6 2078 2 susceptibility susceptibility NN cord-014712-5u4e00q6 2078 3 to to IN cord-014712-5u4e00q6 2078 4 mycobacterial mycobacterial NNP cord-014712-5u4e00q6 2078 5 disease disease NN cord-014712-5u4e00q6 2078 6 ( ( -LRB- cord-014712-5u4e00q6 2078 7 MSMD MSMD NNP cord-014712-5u4e00q6 2078 8 ) ) -RRB- cord-014712-5u4e00q6 2078 9 is be VBZ cord-014712-5u4e00q6 2078 10 a a DT cord-014712-5u4e00q6 2078 11 rare rare JJ cord-014712-5u4e00q6 2078 12 entity entity NN cord-014712-5u4e00q6 2078 13 . . . cord-014712-5u4e00q6 2079 1 Patients patient NNS cord-014712-5u4e00q6 2079 2 with with IN cord-014712-5u4e00q6 2079 3 MSMD MSMD NNP cord-014712-5u4e00q6 2079 4 have have VBP cord-014712-5u4e00q6 2079 5 susceptibility susceptibility NN cord-014712-5u4e00q6 2079 6 to to IN cord-014712-5u4e00q6 2079 7 Salmonella Salmonella NNP cord-014712-5u4e00q6 2079 8 and and CC cord-014712-5u4e00q6 2079 9 some some DT cord-014712-5u4e00q6 2079 10 other other JJ cord-014712-5u4e00q6 2079 11 intracellular intracellular JJ cord-014712-5u4e00q6 2079 12 microorganisms microorganism NNS cord-014712-5u4e00q6 2079 13 in in IN cord-014712-5u4e00q6 2079 14 addition addition NN cord-014712-5u4e00q6 2079 15 to to IN cord-014712-5u4e00q6 2079 16 weakly weakly RB cord-014712-5u4e00q6 2079 17 pathogenic pathogenic JJ cord-014712-5u4e00q6 2079 18 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 2079 19 species specie NNS cord-014712-5u4e00q6 2079 20 . . . cord-014712-5u4e00q6 2080 1 IL-12Rβ1 il-12rβ1 NN cord-014712-5u4e00q6 2080 2 deficiency deficiency NN cord-014712-5u4e00q6 2080 3 , , , cord-014712-5u4e00q6 2080 4 most most RBS cord-014712-5u4e00q6 2080 5 common common JJ cord-014712-5u4e00q6 2080 6 form form NN cord-014712-5u4e00q6 2080 7 of of IN cord-014712-5u4e00q6 2080 8 MSMD MSMD NNP cord-014712-5u4e00q6 2080 9 , , , cord-014712-5u4e00q6 2080 10 is be VBZ cord-014712-5u4e00q6 2080 11 caused cause VBN cord-014712-5u4e00q6 2080 12 by by IN cord-014712-5u4e00q6 2080 13 mutations mutation NNS cord-014712-5u4e00q6 2080 14 in in IN cord-014712-5u4e00q6 2080 15 the the DT cord-014712-5u4e00q6 2080 16 IL12RB IL12RB NNP cord-014712-5u4e00q6 2080 17 gene gene NN cord-014712-5u4e00q6 2080 18 . . . cord-014712-5u4e00q6 2081 1 37 37 CD cord-014712-5u4e00q6 2081 2 patients patient NNS cord-014712-5u4e00q6 2081 3 who who WP cord-014712-5u4e00q6 2081 4 have have VBP cord-014712-5u4e00q6 2081 5 symptoms symptom NNS cord-014712-5u4e00q6 2081 6 suggestive suggestive JJ cord-014712-5u4e00q6 2081 7 for for IN cord-014712-5u4e00q6 2081 8 MSMD MSMD NNP cord-014712-5u4e00q6 2081 9 or or CC cord-014712-5u4e00q6 2081 10 history history NN cord-014712-5u4e00q6 2081 11 of of IN cord-014712-5u4e00q6 2081 12 sibling sibling NN cord-014712-5u4e00q6 2081 13 death death NN cord-014712-5u4e00q6 2081 14 due due IN cord-014712-5u4e00q6 2081 15 to to IN cord-014712-5u4e00q6 2081 16 BCGosis BCGosis NNP cord-014712-5u4e00q6 2081 17 were be VBD cord-014712-5u4e00q6 2081 18 evaluated evaluate VBN cord-014712-5u4e00q6 2081 19 . . . cord-014712-5u4e00q6 2082 1 The the DT cord-014712-5u4e00q6 2082 2 expression expression NN cord-014712-5u4e00q6 2082 3 of of IN cord-014712-5u4e00q6 2082 4 the the DT cord-014712-5u4e00q6 2082 5 IL-12RB1 il-12rb1 CD cord-014712-5u4e00q6 2082 6 was be VBD cord-014712-5u4e00q6 2082 7 detected detect VBN cord-014712-5u4e00q6 2082 8 in in IN cord-014712-5u4e00q6 2082 9 patients patient NNS cord-014712-5u4e00q6 2082 10 and and CC cord-014712-5u4e00q6 2082 11 family family NN cord-014712-5u4e00q6 2082 12 members member NNS cord-014712-5u4e00q6 2082 13 by by IN cord-014712-5u4e00q6 2082 14 monoclonal monoclonal JJ cord-014712-5u4e00q6 2082 15 antibodies antibody NNS cord-014712-5u4e00q6 2082 16 on on IN cord-014712-5u4e00q6 2082 17 the the DT cord-014712-5u4e00q6 2082 18 lymphocyte lymphocyte NN cord-014712-5u4e00q6 2082 19 surface surface NN cord-014712-5u4e00q6 2082 20 by by IN cord-014712-5u4e00q6 2082 21 flow flow NN cord-014712-5u4e00q6 2082 22 cytometry cytometry NN cord-014712-5u4e00q6 2082 23 after after IN cord-014712-5u4e00q6 2082 24 the the DT cord-014712-5u4e00q6 2082 25 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 2082 26 were be VBD cord-014712-5u4e00q6 2082 27 stimulated stimulate VBN cord-014712-5u4e00q6 2082 28 in in IN cord-014712-5u4e00q6 2082 29 vitro vitro FW cord-014712-5u4e00q6 2082 30 with with IN cord-014712-5u4e00q6 2082 31 PHA PHA NNP cord-014712-5u4e00q6 2082 32 . . . cord-014712-5u4e00q6 2083 1 Mutation mutation NN cord-014712-5u4e00q6 2083 2 analyses analysis NNS cord-014712-5u4e00q6 2083 3 was be VBD cord-014712-5u4e00q6 2083 4 done do VBN cord-014712-5u4e00q6 2083 5 by by IN cord-014712-5u4e00q6 2083 6 Sanger Sanger NNP cord-014712-5u4e00q6 2083 7 sequencing sequencing NN cord-014712-5u4e00q6 2083 8 . . . cord-014712-5u4e00q6 2084 1 All all DT cord-014712-5u4e00q6 2084 2 index index NN cord-014712-5u4e00q6 2084 3 cases case NNS cord-014712-5u4e00q6 2084 4 were be VBD cord-014712-5u4e00q6 2084 5 presented present VBN cord-014712-5u4e00q6 2084 6 either either CC cord-014712-5u4e00q6 2084 7 with with IN cord-014712-5u4e00q6 2084 8 BCG BCG NNP cord-014712-5u4e00q6 2084 9 or or CC cord-014712-5u4e00q6 2084 10 salmonella salmonella NN cord-014712-5u4e00q6 2084 11 infection infection NN cord-014712-5u4e00q6 2084 12 . . . cord-014712-5u4e00q6 2085 1 Two two CD cord-014712-5u4e00q6 2085 2 patients patient NNS cord-014712-5u4e00q6 2085 3 , , , cord-014712-5u4e00q6 2085 4 though though IN cord-014712-5u4e00q6 2085 5 they -PRON- PRP cord-014712-5u4e00q6 2085 6 were be VBD cord-014712-5u4e00q6 2085 7 BCG BCG NNP cord-014712-5u4e00q6 2085 8 vaccinated vaccinate VBN cord-014712-5u4e00q6 2085 9 had have VBD cord-014712-5u4e00q6 2085 10 no no DT cord-014712-5u4e00q6 2085 11 clinical clinical JJ cord-014712-5u4e00q6 2085 12 symptom symptom NN cord-014712-5u4e00q6 2085 13 , , , cord-014712-5u4e00q6 2085 14 six six CD cord-014712-5u4e00q6 2085 15 presented present VBN cord-014712-5u4e00q6 2085 16 with with IN cord-014712-5u4e00q6 2085 17 the the DT cord-014712-5u4e00q6 2085 18 symptoms symptom NNS cord-014712-5u4e00q6 2085 19 of of IN cord-014712-5u4e00q6 2085 20 Salmonella Salmonella NNP cord-014712-5u4e00q6 2085 21 infections infection NNS cord-014712-5u4e00q6 2085 22 , , , cord-014712-5u4e00q6 2085 23 two two CD cord-014712-5u4e00q6 2085 24 developed develop VBN cord-014712-5u4e00q6 2085 25 leukocytoclastic leukocytoclastic NNP cord-014712-5u4e00q6 2085 26 vasculitis vasculitis NN cord-014712-5u4e00q6 2085 27 , , , cord-014712-5u4e00q6 2085 28 candidiasis candidiasis NN cord-014712-5u4e00q6 2085 29 was be VBD cord-014712-5u4e00q6 2085 30 the the DT cord-014712-5u4e00q6 2085 31 accompanying accompanying JJ cord-014712-5u4e00q6 2085 32 feature feature NN cord-014712-5u4e00q6 2085 33 in in IN cord-014712-5u4e00q6 2085 34 seven seven CD cord-014712-5u4e00q6 2085 35 . . . cord-014712-5u4e00q6 2086 1 Recurrent recurrent JJ cord-014712-5u4e00q6 2086 2 Leishmaniasis Leishmaniasis NNP cord-014712-5u4e00q6 2086 3 that that WDT cord-014712-5u4e00q6 2086 4 necessitated necessitate VBD cord-014712-5u4e00q6 2086 5 subcutaneous subcutaneous JJ cord-014712-5u4e00q6 2086 6 interferon interferon NN cord-014712-5u4e00q6 2086 7 - - HYPH cord-014712-5u4e00q6 2086 8 γ γ NN cord-014712-5u4e00q6 2086 9 and and CC cord-014712-5u4e00q6 2086 10 prophylactic prophylactic JJ cord-014712-5u4e00q6 2086 11 Amphotericine Amphotericine NNP cord-014712-5u4e00q6 2086 12 B B NNP cord-014712-5u4e00q6 2086 13 therapy therapy NN cord-014712-5u4e00q6 2086 14 was be VBD cord-014712-5u4e00q6 2086 15 present present JJ cord-014712-5u4e00q6 2086 16 in in IN cord-014712-5u4e00q6 2086 17 a a DT cord-014712-5u4e00q6 2086 18 patient patient NN cord-014712-5u4e00q6 2086 19 . . . cord-014712-5u4e00q6 2087 1 In in IN cord-014712-5u4e00q6 2087 2 all all DT cord-014712-5u4e00q6 2087 3 patients patient NNS cord-014712-5u4e00q6 2087 4 the the DT cord-014712-5u4e00q6 2087 5 percentage percentage NN cord-014712-5u4e00q6 2087 6 of of IN cord-014712-5u4e00q6 2087 7 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 2087 8 with with IN cord-014712-5u4e00q6 2087 9 IL12Rβ1 il12rβ1 NN cord-014712-5u4e00q6 2087 10 expression expression NN cord-014712-5u4e00q6 2087 11 was be VBD cord-014712-5u4e00q6 2087 12 found find VBN cord-014712-5u4e00q6 2087 13 to to TO cord-014712-5u4e00q6 2087 14 be be VB cord-014712-5u4e00q6 2087 15 less less JJR cord-014712-5u4e00q6 2087 16 than than IN cord-014712-5u4e00q6 2087 17 % % NN cord-014712-5u4e00q6 2087 18 1 1 CD cord-014712-5u4e00q6 2087 19 . . . cord-014712-5u4e00q6 2088 1 Prophylactic prophylactic JJ cord-014712-5u4e00q6 2088 2 antimycrobial antimycrobial JJ cord-014712-5u4e00q6 2088 3 treatment treatment NN cord-014712-5u4e00q6 2088 4 and and CC cord-014712-5u4e00q6 2088 5 in in IN cord-014712-5u4e00q6 2088 6 severe severe JJ cord-014712-5u4e00q6 2088 7 and and CC cord-014712-5u4e00q6 2088 8 resistant resistant JJ cord-014712-5u4e00q6 2088 9 infectious infectious JJ cord-014712-5u4e00q6 2088 10 episodes episode NNS cord-014712-5u4e00q6 2088 11 IF if NN cord-014712-5u4e00q6 2088 12 - - HYPH cord-014712-5u4e00q6 2088 13 γ γ NN cord-014712-5u4e00q6 2088 14 therapy therapy NN cord-014712-5u4e00q6 2088 15 , , , cord-014712-5u4e00q6 2088 16 should should MD cord-014712-5u4e00q6 2088 17 be be VB cord-014712-5u4e00q6 2088 18 given give VBN cord-014712-5u4e00q6 2088 19 . . . cord-014712-5u4e00q6 2089 1 Many many JJ cord-014712-5u4e00q6 2089 2 patients patient NNS cord-014712-5u4e00q6 2089 3 have have VBP cord-014712-5u4e00q6 2089 4 associated associate VBN cord-014712-5u4e00q6 2089 5 mucocutaneous mucocutaneous JJ cord-014712-5u4e00q6 2089 6 candidiasis candidiasi NNS cord-014712-5u4e00q6 2089 7 . . . cord-014712-5u4e00q6 2090 1 The the DT cord-014712-5u4e00q6 2090 2 prognosis prognosis NN cord-014712-5u4e00q6 2090 3 is be VBZ cord-014712-5u4e00q6 2090 4 good good JJ cord-014712-5u4e00q6 2090 5 unless unless IN cord-014712-5u4e00q6 2090 6 the the DT cord-014712-5u4e00q6 2090 7 patient patient NN cord-014712-5u4e00q6 2090 8 admits admit VBZ cord-014712-5u4e00q6 2090 9 at at IN cord-014712-5u4e00q6 2090 10 the the DT cord-014712-5u4e00q6 2090 11 later later JJ cord-014712-5u4e00q6 2090 12 stages stage NNS cord-014712-5u4e00q6 2090 13 of of IN cord-014712-5u4e00q6 2090 14 BCG BCG NNP cord-014712-5u4e00q6 2090 15 infection infection NN cord-014712-5u4e00q6 2090 16 . . . cord-014712-5u4e00q6 2091 1 The the DT cord-014712-5u4e00q6 2091 2 results result NNS cord-014712-5u4e00q6 2091 3 of of IN cord-014712-5u4e00q6 2091 4 our -PRON- PRP$ cord-014712-5u4e00q6 2091 5 patients patient NNS cord-014712-5u4e00q6 2091 6 showed show VBD cord-014712-5u4e00q6 2091 7 that that IN cord-014712-5u4e00q6 2091 8 the the DT cord-014712-5u4e00q6 2091 9 analysis analysis NN cord-014712-5u4e00q6 2091 10 of of IN cord-014712-5u4e00q6 2091 11 the the DT cord-014712-5u4e00q6 2091 12 surface surface NN cord-014712-5u4e00q6 2091 13 expression expression NN cord-014712-5u4e00q6 2091 14 of of IN cord-014712-5u4e00q6 2091 15 IL12Rβ1 il12rβ1 NN cord-014712-5u4e00q6 2091 16 on on IN cord-014712-5u4e00q6 2091 17 activated activate VBN cord-014712-5u4e00q6 2091 18 lymphocytes lymphocyte NNS cord-014712-5u4e00q6 2091 19 is be VBZ cord-014712-5u4e00q6 2091 20 an an DT cord-014712-5u4e00q6 2091 21 effective effective JJ cord-014712-5u4e00q6 2091 22 diagnostic diagnostic JJ cord-014712-5u4e00q6 2091 23 method method NN cord-014712-5u4e00q6 2091 24 which which WDT cord-014712-5u4e00q6 2091 25 can can MD cord-014712-5u4e00q6 2091 26 also also RB cord-014712-5u4e00q6 2091 27 be be VB cord-014712-5u4e00q6 2091 28 used use VBN cord-014712-5u4e00q6 2091 29 in in IN cord-014712-5u4e00q6 2091 30 screening screening NN cord-014712-5u4e00q6 2091 31 of of IN cord-014712-5u4e00q6 2091 32 the the DT cord-014712-5u4e00q6 2091 33 patients patient NNS cord-014712-5u4e00q6 2091 34 with with IN cord-014712-5u4e00q6 2091 35 probable probable JJ cord-014712-5u4e00q6 2091 36 MSMD MSMD NNP cord-014712-5u4e00q6 2091 37 . . . cord-014712-5u4e00q6 2092 1 Introduction introduction NN cord-014712-5u4e00q6 2092 2 : : : cord-014712-5u4e00q6 2093 1 Mendelian mendelian JJ cord-014712-5u4e00q6 2093 2 susceptibility susceptibility NN cord-014712-5u4e00q6 2093 3 to to IN cord-014712-5u4e00q6 2093 4 mycobacterial mycobacterial NNP cord-014712-5u4e00q6 2093 5 disease disease NNP cord-014712-5u4e00q6 2094 1 ( ( -LRB- cord-014712-5u4e00q6 2094 2 MSMD MSMD NNP cord-014712-5u4e00q6 2094 3 , , , cord-014712-5u4e00q6 2094 4 Online Online NNP cord-014712-5u4e00q6 2094 5 Mendelian Mendelian NNP cord-014712-5u4e00q6 2094 6 Inheritance Inheritance NNP cord-014712-5u4e00q6 2094 7 inMan inMan NNP cord-014712-5u4e00q6 2094 8 209950 209950 CD cord-014712-5u4e00q6 2094 9 ) ) -RRB- cord-014712-5u4e00q6 2094 10 is be VBZ cord-014712-5u4e00q6 2094 11 a a DT cord-014712-5u4e00q6 2094 12 rare rare JJ cord-014712-5u4e00q6 2094 13 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 2094 14 characterized characterize VBN cord-014712-5u4e00q6 2094 15 by by IN cord-014712-5u4e00q6 2094 16 predisposition predisposition NN cord-014712-5u4e00q6 2094 17 to to IN cord-014712-5u4e00q6 2094 18 infections infection NNS cord-014712-5u4e00q6 2094 19 caused cause VBN cord-014712-5u4e00q6 2094 20 by by IN cord-014712-5u4e00q6 2094 21 weakly weakly RB cord-014712-5u4e00q6 2094 22 virulent virulent JJ cord-014712-5u4e00q6 2094 23 mycobacteria mycobacterium NNS cord-014712-5u4e00q6 2094 24 , , , cord-014712-5u4e00q6 2094 25 such such JJ cord-014712-5u4e00q6 2094 26 as as IN cord-014712-5u4e00q6 2094 27 Mycobacterium Mycobacterium NNP cord-014712-5u4e00q6 2094 28 bovis bovis NN cord-014712-5u4e00q6 2094 29 bacille bacille NNP cord-014712-5u4e00q6 2094 30 Calmette Calmette NNP cord-014712-5u4e00q6 2094 31 - - HYPH cord-014712-5u4e00q6 2094 32 Gue´rin Gue´rin NNP cord-014712-5u4e00q6 2094 33 ( ( -LRB- cord-014712-5u4e00q6 2094 34 BCG BCG NNP cord-014712-5u4e00q6 2094 35 ) ) -RRB- cord-014712-5u4e00q6 2094 36 , , , cord-014712-5u4e00q6 2094 37 environmental environmental JJ cord-014712-5u4e00q6 2094 38 nontuberculous nontuberculous JJ cord-014712-5u4e00q6 2094 39 mycobacteria mycobacterium NNS cord-014712-5u4e00q6 2094 40 ( ( -LRB- cord-014712-5u4e00q6 2094 41 NTM NTM NNP cord-014712-5u4e00q6 2094 42 ) ) -RRB- cord-014712-5u4e00q6 2094 43 , , , cord-014712-5u4e00q6 2094 44 and and CC cord-014712-5u4e00q6 2094 45 Salmonella salmonella NN cord-014712-5u4e00q6 2094 46 strains strain NNS cord-014712-5u4e00q6 2094 47 in in IN cord-014712-5u4e00q6 2094 48 otherwise otherwise RB cord-014712-5u4e00q6 2094 49 healthy healthy JJ cord-014712-5u4e00q6 2094 50 individuals individual NNS cord-014712-5u4e00q6 2094 51 . . . cord-014712-5u4e00q6 2095 1 IL-12Rb1 IL-12Rb1 NNP cord-014712-5u4e00q6 2095 2 deficiency deficiency NN cord-014712-5u4e00q6 2095 3 is be VBZ cord-014712-5u4e00q6 2095 4 the the DT cord-014712-5u4e00q6 2095 5 most most RBS cord-014712-5u4e00q6 2095 6 common common JJ cord-014712-5u4e00q6 2095 7 form form NN cord-014712-5u4e00q6 2095 8 of of IN cord-014712-5u4e00q6 2095 9 MSMD MSMD NNP cord-014712-5u4e00q6 2095 10 and and CC cord-014712-5u4e00q6 2095 11 is be VBZ cord-014712-5u4e00q6 2095 12 characterized characterize VBN cord-014712-5u4e00q6 2095 13 by by IN cord-014712-5u4e00q6 2095 14 childhoodonset childhoodonset NNP cord-014712-5u4e00q6 2095 15 mycobacteriosis mycobacteriosis NNP cord-014712-5u4e00q6 2095 16 with with IN cord-014712-5u4e00q6 2095 17 frequent frequent JJ cord-014712-5u4e00q6 2095 18 recurrence recurrence NN cord-014712-5u4e00q6 2095 19 . . . cord-014712-5u4e00q6 2096 1 It -PRON- PRP cord-014712-5u4e00q6 2096 2 has have VBZ cord-014712-5u4e00q6 2096 3 been be VBN cord-014712-5u4e00q6 2096 4 found find VBN cord-014712-5u4e00q6 2096 5 that that IN cord-014712-5u4e00q6 2096 6 patients patient NNS cord-014712-5u4e00q6 2096 7 with with IN cord-014712-5u4e00q6 2096 8 IL-12Rb1 IL-12Rb1 NNP cord-014712-5u4e00q6 2096 9 deficiencies deficiency NNS cord-014712-5u4e00q6 2096 10 are be VBP cord-014712-5u4e00q6 2096 11 also also RB cord-014712-5u4e00q6 2096 12 prone prone JJ cord-014712-5u4e00q6 2096 13 to to IN cord-014712-5u4e00q6 2096 14 developing develop VBG cord-014712-5u4e00q6 2096 15 infections infection NNS cord-014712-5u4e00q6 2096 16 with with IN cord-014712-5u4e00q6 2096 17 nontyphoidal nontyphoidal JJ cord-014712-5u4e00q6 2096 18 salmonella salmonella NN cord-014712-5u4e00q6 2096 19 species specie NNS cord-014712-5u4e00q6 2096 20 with with IN cord-014712-5u4e00q6 2096 21 bacteremia bacteremia NN cord-014712-5u4e00q6 2096 22 and and CC cord-014712-5u4e00q6 2096 23 lymphadenopathy lymphadenopathy JJ cord-014712-5u4e00q6 2096 24 . . . cord-014712-5u4e00q6 2097 1 Here here RB cord-014712-5u4e00q6 2097 2 we -PRON- PRP cord-014712-5u4e00q6 2097 3 present present VBP cord-014712-5u4e00q6 2097 4 a a DT cord-014712-5u4e00q6 2097 5 girl girl NN cord-014712-5u4e00q6 2097 6 with with IN cord-014712-5u4e00q6 2097 7 recurrent recurrent JJ cord-014712-5u4e00q6 2097 8 cutaneous cutaneous JJ cord-014712-5u4e00q6 2097 9 leukocytoclastic leukocytoclastic JJ cord-014712-5u4e00q6 2097 10 vasculitis vasculitis NN cord-014712-5u4e00q6 2097 11 ( ( -LRB- cord-014712-5u4e00q6 2097 12 CLV CLV NNP cord-014712-5u4e00q6 2097 13 ) ) -RRB- cord-014712-5u4e00q6 2097 14 with with IN cord-014712-5u4e00q6 2097 15 Salmonella Salmonella NNP cord-014712-5u4e00q6 2097 16 enteritidis enteritidis NN cord-014712-5u4e00q6 2097 17 due due JJ cord-014712-5u4e00q6 2097 18 to to IN cord-014712-5u4e00q6 2097 19 IL-12Rb1 il-12rb1 JJ cord-014712-5u4e00q6 2097 20 deficiency deficiency NN cord-014712-5u4e00q6 2097 21 . . . cord-014712-5u4e00q6 2098 1 Case case NN cord-014712-5u4e00q6 2098 2 report report NN cord-014712-5u4e00q6 2098 3 : : : cord-014712-5u4e00q6 2098 4 A a DT cord-014712-5u4e00q6 2098 5 four four CD cord-014712-5u4e00q6 2098 6 year year NN cord-014712-5u4e00q6 2098 7 old old JJ cord-014712-5u4e00q6 2098 8 girl girl NN cord-014712-5u4e00q6 2098 9 that that WDT cord-014712-5u4e00q6 2098 10 had have VBD cord-014712-5u4e00q6 2098 11 been be VBN cord-014712-5u4e00q6 2098 12 diagnosed diagnose VBN cord-014712-5u4e00q6 2098 13 serologically serologically RB cord-014712-5u4e00q6 2098 14 with with IN cord-014712-5u4e00q6 2098 15 recurrent recurrent JJ cord-014712-5u4e00q6 2098 16 Salmonella Salmonella NNP cord-014712-5u4e00q6 2098 17 infections infection NNS cord-014712-5u4e00q6 2098 18 , , , cord-014712-5u4e00q6 2098 19 associated associate VBN cord-014712-5u4e00q6 2098 20 with with IN cord-014712-5u4e00q6 2098 21 lymphadenopathy lymphadenopathy NN cord-014712-5u4e00q6 2098 22 and and CC cord-014712-5u4e00q6 2098 23 skin skin NN cord-014712-5u4e00q6 2098 24 eruption eruption NN cord-014712-5u4e00q6 2098 25 was be VBD cord-014712-5u4e00q6 2098 26 admitted admit VBN cord-014712-5u4e00q6 2098 27 as as IN cord-014712-5u4e00q6 2098 28 having have VBG cord-014712-5u4e00q6 2098 29 Henoch Henoch NNP cord-014712-5u4e00q6 2098 30 - - HYPH cord-014712-5u4e00q6 2098 31 Schönlein Schönlein NNP cord-014712-5u4e00q6 2098 32 purpura purpura NN cord-014712-5u4e00q6 2098 33 . . . cord-014712-5u4e00q6 2099 1 She -PRON- PRP cord-014712-5u4e00q6 2099 2 had have VBD cord-014712-5u4e00q6 2099 3 been be VBN cord-014712-5u4e00q6 2099 4 vaccinated vaccinate VBN cord-014712-5u4e00q6 2099 5 with with IN cord-014712-5u4e00q6 2099 6 BCG BCG NNP cord-014712-5u4e00q6 2099 7 and and CC cord-014712-5u4e00q6 2099 8 developed develop VBD cord-014712-5u4e00q6 2099 9 left leave VBN cord-014712-5u4e00q6 2099 10 axillary axillary JJ cord-014712-5u4e00q6 2099 11 lymphadenitis lymphadenitis NN cord-014712-5u4e00q6 2099 12 which which WDT cord-014712-5u4e00q6 2099 13 spontaneously spontaneously RB cord-014712-5u4e00q6 2099 14 drained drain VBD cord-014712-5u4e00q6 2099 15 and and CC cord-014712-5u4e00q6 2099 16 had have VBD cord-014712-5u4e00q6 2099 17 recurrent recurrent JJ cord-014712-5u4e00q6 2099 18 oral oral JJ cord-014712-5u4e00q6 2099 19 monilia monilia JJ cord-014712-5u4e00q6 2099 20 plaque plaque NN cord-014712-5u4e00q6 2099 21 . . . cord-014712-5u4e00q6 2100 1 Edema edema NN cord-014712-5u4e00q6 2100 2 and and CC cord-014712-5u4e00q6 2100 3 purpuric purpuric NNP cord-014712-5u4e00q6 2100 4 eruptions eruption NNS cord-014712-5u4e00q6 2100 5 were be VBD cord-014712-5u4e00q6 2100 6 present present JJ cord-014712-5u4e00q6 2100 7 on on IN cord-014712-5u4e00q6 2100 8 the the DT cord-014712-5u4e00q6 2100 9 upper upper JJ cord-014712-5u4e00q6 2100 10 and and CC cord-014712-5u4e00q6 2100 11 lower low JJR cord-014712-5u4e00q6 2100 12 extremities extremity NNS cord-014712-5u4e00q6 2100 13 and and CC cord-014712-5u4e00q6 2100 14 the the DT cord-014712-5u4e00q6 2100 15 abdomen abdomen NN cord-014712-5u4e00q6 2100 16 . . . cord-014712-5u4e00q6 2101 1 Multiple multiple JJ cord-014712-5u4e00q6 2101 2 mobile mobile JJ cord-014712-5u4e00q6 2101 3 , , , cord-014712-5u4e00q6 2101 4 painful painful JJ cord-014712-5u4e00q6 2101 5 , , , cord-014712-5u4e00q6 2101 6 enlarged enlarged JJ cord-014712-5u4e00q6 2101 7 submandibular submandibular JJ cord-014712-5u4e00q6 2101 8 lymph lymph NN cord-014712-5u4e00q6 2101 9 nodes node NNS cord-014712-5u4e00q6 2101 10 of of IN cord-014712-5u4e00q6 2101 11 about about RB cord-014712-5u4e00q6 2101 12 2x2 2x2 CD cord-014712-5u4e00q6 2101 13 cm cm NNS cord-014712-5u4e00q6 2101 14 in in IN cord-014712-5u4e00q6 2101 15 diameter diameter NN cord-014712-5u4e00q6 2101 16 were be VBD cord-014712-5u4e00q6 2101 17 palpable palpable JJ cord-014712-5u4e00q6 2101 18 . . . cord-014712-5u4e00q6 2102 1 Skin skin NN cord-014712-5u4e00q6 2102 2 biopsy biopsy NN cord-014712-5u4e00q6 2102 3 showed show VBD cord-014712-5u4e00q6 2102 4 a a DT cord-014712-5u4e00q6 2102 5 dense dense JJ cord-014712-5u4e00q6 2102 6 inflammatory inflammatory JJ cord-014712-5u4e00q6 2102 7 site site NN cord-014712-5u4e00q6 2102 8 with with IN cord-014712-5u4e00q6 2102 9 eosinophils eosinophil NNS cord-014712-5u4e00q6 2102 10 , , , cord-014712-5u4e00q6 2102 11 neutrophils neutrophil NNS cord-014712-5u4e00q6 2102 12 and and CC cord-014712-5u4e00q6 2102 13 fibrin fibrin NN cord-014712-5u4e00q6 2102 14 in in IN cord-014712-5u4e00q6 2102 15 the the DT cord-014712-5u4e00q6 2102 16 upper upper JJ cord-014712-5u4e00q6 2102 17 dermis dermis NN cord-014712-5u4e00q6 2102 18 and and CC cord-014712-5u4e00q6 2102 19 dermal dermal JJ cord-014712-5u4e00q6 2102 20 vessel vessel NN cord-014712-5u4e00q6 2102 21 wall wall NN cord-014712-5u4e00q6 2102 22 , , , cord-014712-5u4e00q6 2102 23 compatible compatible JJ cord-014712-5u4e00q6 2102 24 with with IN cord-014712-5u4e00q6 2102 25 leukocytoclastic leukocytoclastic JJ cord-014712-5u4e00q6 2102 26 vasculitis vasculitis NN cord-014712-5u4e00q6 2102 27 . . . cord-014712-5u4e00q6 2103 1 Serological serological JJ cord-014712-5u4e00q6 2103 2 studies study NNS cord-014712-5u4e00q6 2103 3 to to TO cord-014712-5u4e00q6 2103 4 assess assess VB cord-014712-5u4e00q6 2103 5 diagnostic diagnostic JJ cord-014712-5u4e00q6 2103 6 markers marker NNS cord-014712-5u4e00q6 2103 7 for for IN cord-014712-5u4e00q6 2103 8 vasculitis vasculitis NN cord-014712-5u4e00q6 2103 9 and and CC cord-014712-5u4e00q6 2103 10 infectious infectious JJ cord-014712-5u4e00q6 2103 11 agents agent NNS cord-014712-5u4e00q6 2103 12 were be VBD cord-014712-5u4e00q6 2103 13 all all DT cord-014712-5u4e00q6 2103 14 negative negative JJ cord-014712-5u4e00q6 2103 15 . . . cord-014712-5u4e00q6 2104 1 Immune immune JJ cord-014712-5u4e00q6 2104 2 work work NN cord-014712-5u4e00q6 2104 3 - - HYPH cord-014712-5u4e00q6 2104 4 up up NN cord-014712-5u4e00q6 2104 5 were be VBD cord-014712-5u4e00q6 2104 6 unremarkable unremarkable JJ cord-014712-5u4e00q6 2104 7 other other JJ cord-014712-5u4e00q6 2104 8 than than IN cord-014712-5u4e00q6 2104 9 hypergammaglobulinemia hypergammaglobulinemia NNP cord-014712-5u4e00q6 2104 10 . . . cord-014712-5u4e00q6 2105 1 Salmonella salmonella NN cord-014712-5u4e00q6 2105 2 enteritidis enteritidis NN cord-014712-5u4e00q6 2105 3 was be VBD cord-014712-5u4e00q6 2105 4 identified identify VBN cord-014712-5u4e00q6 2105 5 in in IN cord-014712-5u4e00q6 2105 6 blood blood NN cord-014712-5u4e00q6 2105 7 culture culture NN cord-014712-5u4e00q6 2105 8 . . . cord-014712-5u4e00q6 2106 1 She -PRON- PRP cord-014712-5u4e00q6 2106 2 responded respond VBD cord-014712-5u4e00q6 2106 3 dramatically dramatically RB cord-014712-5u4e00q6 2106 4 to to IN cord-014712-5u4e00q6 2106 5 ceftriaxone ceftriaxone NN cord-014712-5u4e00q6 2106 6 treatment treatment NN cord-014712-5u4e00q6 2106 7 within within IN cord-014712-5u4e00q6 2106 8 a a DT cord-014712-5u4e00q6 2106 9 few few JJ cord-014712-5u4e00q6 2106 10 days day NNS cord-014712-5u4e00q6 2106 11 and and CC cord-014712-5u4e00q6 2106 12 lesions lesion NNS cord-014712-5u4e00q6 2106 13 cleared clear VBD cord-014712-5u4e00q6 2106 14 completely completely RB cord-014712-5u4e00q6 2106 15 . . . cord-014712-5u4e00q6 2107 1 Extended extended JJ cord-014712-5u4e00q6 2107 2 immunological immunological JJ cord-014712-5u4e00q6 2107 3 and and CC cord-014712-5u4e00q6 2107 4 molecular molecular JJ cord-014712-5u4e00q6 2107 5 genetic genetic JJ cord-014712-5u4e00q6 2107 6 examination examination NN cord-014712-5u4e00q6 2107 7 of of IN cord-014712-5u4e00q6 2107 8 the the DT cord-014712-5u4e00q6 2107 9 patient patient NN cord-014712-5u4e00q6 2107 10 was be VBD cord-014712-5u4e00q6 2107 11 carried carry VBN cord-014712-5u4e00q6 2107 12 out out RP cord-014712-5u4e00q6 2107 13 for for IN cord-014712-5u4e00q6 2107 14 IL-12 IL-12 NNP cord-014712-5u4e00q6 2107 15 / / SYM cord-014712-5u4e00q6 2107 16 IFN IFN NNP cord-014712-5u4e00q6 2107 17 - - HYPH cord-014712-5u4e00q6 2107 18 γ γ NNP cord-014712-5u4e00q6 2107 19 pathway pathway NN cord-014712-5u4e00q6 2107 20 defects defect NNS cord-014712-5u4e00q6 2107 21 . . . cord-014712-5u4e00q6 2108 1 On on IN cord-014712-5u4e00q6 2108 2 the the DT cord-014712-5u4e00q6 2108 3 FACS FACS NNP cord-014712-5u4e00q6 2108 4 analysis analysis NN cord-014712-5u4e00q6 2108 5 of of IN cord-014712-5u4e00q6 2108 6 T T NNP cord-014712-5u4e00q6 2108 7 cells cell NNS cord-014712-5u4e00q6 2108 8 for for IN cord-014712-5u4e00q6 2108 9 cell cell NN cord-014712-5u4e00q6 2108 10 surface surface NN cord-014712-5u4e00q6 2108 11 expression expression NN cord-014712-5u4e00q6 2108 12 of of IN cord-014712-5u4e00q6 2108 13 the the DT cord-014712-5u4e00q6 2108 14 cytokine cytokine NN cord-014712-5u4e00q6 2108 15 receptor receptor NN cord-014712-5u4e00q6 2108 16 chains chain NNS cord-014712-5u4e00q6 2108 17 , , , cord-014712-5u4e00q6 2108 18 she -PRON- PRP cord-014712-5u4e00q6 2108 19 did do VBD cord-014712-5u4e00q6 2108 20 not not RB cord-014712-5u4e00q6 2108 21 express express VB cord-014712-5u4e00q6 2108 22 any any DT cord-014712-5u4e00q6 2108 23 IL-12Rβ1 il-12rβ1 NN cord-014712-5u4e00q6 2108 24 . . . cord-014712-5u4e00q6 2109 1 Discussion discussion NN cord-014712-5u4e00q6 2109 2 : : : cord-014712-5u4e00q6 2110 1 In in IN cord-014712-5u4e00q6 2110 2 thepresent thepresent NN cord-014712-5u4e00q6 2110 3 report report NN cord-014712-5u4e00q6 2110 4 , , , cord-014712-5u4e00q6 2110 5 we -PRON- PRP cord-014712-5u4e00q6 2110 6 describe describe VBP cord-014712-5u4e00q6 2110 7 a a DT cord-014712-5u4e00q6 2110 8 child child NN cord-014712-5u4e00q6 2110 9 with with IN cord-014712-5u4e00q6 2110 10 CLV CLV NNP cord-014712-5u4e00q6 2110 11 with with IN cord-014712-5u4e00q6 2110 12 Salmonella Salmonella NNP cord-014712-5u4e00q6 2110 13 enteritidis enteritidis NN cord-014712-5u4e00q6 2110 14 due due IN cord-014712-5u4e00q6 2110 15 to to IN cord-014712-5u4e00q6 2110 16 IL-12Rb1 IL-12Rb1 NNP cord-014712-5u4e00q6 2110 17 defi defi NN cord-014712-5u4e00q6 2110 18 - - HYPH cord-014712-5u4e00q6 2110 19 ciency ciency NN cord-014712-5u4e00q6 2110 20 . . . cord-014712-5u4e00q6 2111 1 In in IN cord-014712-5u4e00q6 2111 2 a a DT cord-014712-5u4e00q6 2111 3 large large JJ cord-014712-5u4e00q6 2111 4 cohort cohort NN cord-014712-5u4e00q6 2111 5 of of IN cord-014712-5u4e00q6 2111 6 patients patient NNS cord-014712-5u4e00q6 2111 7 with with IN cord-014712-5u4e00q6 2111 8 IL-12Rb1 IL-12Rb1 NNP cord-014712-5u4e00q6 2111 9 deficiency deficiency NN cord-014712-5u4e00q6 2111 10 , , , cord-014712-5u4e00q6 2111 11 NTM NTM NNP cord-014712-5u4e00q6 2111 12 , , , cord-014712-5u4e00q6 2111 13 M. M. NNP cord-014712-5u4e00q6 2111 14 tuberculosis tuberculosis NN cord-014712-5u4e00q6 2111 15 , , , cord-014712-5u4e00q6 2111 16 disseminated disseminate VBD cord-014712-5u4e00q6 2111 17 BCG BCG NNP cord-014712-5u4e00q6 2111 18 infection infection NN cord-014712-5u4e00q6 2111 19 after after IN cord-014712-5u4e00q6 2111 20 inoculation inoculation NN cord-014712-5u4e00q6 2111 21 with with IN cord-014712-5u4e00q6 2111 22 the the DT cord-014712-5u4e00q6 2111 23 vaccine vaccine NN cord-014712-5u4e00q6 2111 24 , , , cord-014712-5u4e00q6 2111 25 and and CC cord-014712-5u4e00q6 2111 26 salmonella salmonella NN cord-014712-5u4e00q6 2111 27 infection infection NN cord-014712-5u4e00q6 2111 28 have have VBP cord-014712-5u4e00q6 2111 29 been be VBN cord-014712-5u4e00q6 2111 30 described describe VBN cord-014712-5u4e00q6 2111 31 . . . cord-014712-5u4e00q6 2112 1 Sporadic sporadic JJ cord-014712-5u4e00q6 2112 2 cases case NNS cord-014712-5u4e00q6 2112 3 with with IN cord-014712-5u4e00q6 2112 4 other other JJ cord-014712-5u4e00q6 2112 5 infectious infectious JJ cord-014712-5u4e00q6 2112 6 agents agent NNS cord-014712-5u4e00q6 2112 7 have have VBP cord-014712-5u4e00q6 2112 8 also also RB cord-014712-5u4e00q6 2112 9 been be VBN cord-014712-5u4e00q6 2112 10 reported report VBN cord-014712-5u4e00q6 2112 11 . . . cord-014712-5u4e00q6 2113 1 Salmonella salmonella NN cord-014712-5u4e00q6 2113 2 infections infection NNS cord-014712-5u4e00q6 2113 3 reported report VBN cord-014712-5u4e00q6 2113 4 in in IN cord-014712-5u4e00q6 2113 5 these these DT cord-014712-5u4e00q6 2113 6 patients patient NNS cord-014712-5u4e00q6 2113 7 were be VBD cord-014712-5u4e00q6 2113 8 due due JJ cord-014712-5u4e00q6 2113 9 to to IN cord-014712-5u4e00q6 2113 10 extraintestinal extraintestinal JJ cord-014712-5u4e00q6 2113 11 , , , cord-014712-5u4e00q6 2113 12 or or CC cord-014712-5u4e00q6 2113 13 septicemic septicemic NNP cord-014712-5u4e00q6 2113 14 , , , cord-014712-5u4e00q6 2113 15 recurring recur VBG cord-014712-5u4e00q6 2113 16 infections infection NNS cord-014712-5u4e00q6 2113 17 caused cause VBN cord-014712-5u4e00q6 2113 18 by by IN cord-014712-5u4e00q6 2113 19 nontyphoidal nontyphoidal NNP cord-014712-5u4e00q6 2113 20 Salmonella Salmonella NNP cord-014712-5u4e00q6 2113 21 species specie NNS cord-014712-5u4e00q6 2113 22 . . . cord-014712-5u4e00q6 2114 1 Only only RB cord-014712-5u4e00q6 2114 2 two two CD cord-014712-5u4e00q6 2114 3 IL-12Rb1-deficient IL-12Rb1-deficient NNP cord-014712-5u4e00q6 2114 4 patients patient NNS cord-014712-5u4e00q6 2114 5 have have VBP cord-014712-5u4e00q6 2114 6 been be VBN cord-014712-5u4e00q6 2114 7 identified identify VBN cord-014712-5u4e00q6 2114 8 with with IN cord-014712-5u4e00q6 2114 9 vasculitis vasculitis NN cord-014712-5u4e00q6 2114 10 due due IN cord-014712-5u4e00q6 2114 11 to to IN cord-014712-5u4e00q6 2114 12 salmonella salmonella NN cord-014712-5u4e00q6 2114 13 strains strain NNS cord-014712-5u4e00q6 2114 14 ; ; : cord-014712-5u4e00q6 2114 15 both both DT cord-014712-5u4e00q6 2114 16 came come VBD cord-014712-5u4e00q6 2114 17 from from IN cord-014712-5u4e00q6 2114 18 Turkey Turkey NNP cord-014712-5u4e00q6 2114 19 , , , cord-014712-5u4e00q6 2114 20 where where WRB cord-014712-5u4e00q6 2114 21 consanguineous consanguineous JJ cord-014712-5u4e00q6 2114 22 marriages marriage NNS cord-014712-5u4e00q6 2114 23 are be VBP cord-014712-5u4e00q6 2114 24 common common JJ cord-014712-5u4e00q6 2114 25 . . . cord-014712-5u4e00q6 2115 1 Kutukculer Kutukculer NNP cord-014712-5u4e00q6 2115 2 and and CC cord-014712-5u4e00q6 2115 3 colleagues colleague NNS cord-014712-5u4e00q6 2115 4 reported report VBD cord-014712-5u4e00q6 2115 5 the the DT cord-014712-5u4e00q6 2115 6 first first JJ cord-014712-5u4e00q6 2115 7 case case NN cord-014712-5u4e00q6 2115 8 of of IN cord-014712-5u4e00q6 2115 9 S. S. NNP cord-014712-5u4e00q6 2115 10 enteritidis enteritidis NN cord-014712-5u4e00q6 2115 11 - - HYPH cord-014712-5u4e00q6 2115 12 associated associate VBN cord-014712-5u4e00q6 2115 13 CLV CLV NNP cord-014712-5u4e00q6 2115 14 . . . cord-014712-5u4e00q6 2116 1 Sanal Sanal NNP cord-014712-5u4e00q6 2116 2 and and CC cord-014712-5u4e00q6 2116 3 colleagues colleague NNS cord-014712-5u4e00q6 2116 4 reported report VBD cord-014712-5u4e00q6 2116 5 a a DT cord-014712-5u4e00q6 2116 6 CLV CLV NNP cord-014712-5u4e00q6 2116 7 case case NN cord-014712-5u4e00q6 2116 8 associated associate VBN cord-014712-5u4e00q6 2116 9 with with IN cord-014712-5u4e00q6 2116 10 group group NN cord-014712-5u4e00q6 2116 11 D D NNP cord-014712-5u4e00q6 2116 12 Salmonella Salmonella NNP cord-014712-5u4e00q6 2116 13 infection infection NN cord-014712-5u4e00q6 2116 14 . . . cord-014712-5u4e00q6 2117 1 Leukocytoclastic leukocytoclastic JJ cord-014712-5u4e00q6 2117 2 vasculitis vasculitis NN cord-014712-5u4e00q6 2117 3 is be VBZ cord-014712-5u4e00q6 2117 4 an an DT cord-014712-5u4e00q6 2117 5 immune immune JJ cord-014712-5u4e00q6 2117 6 complex complex NN cord-014712-5u4e00q6 2117 7 mediated mediate VBN cord-014712-5u4e00q6 2117 8 disease disease NN cord-014712-5u4e00q6 2117 9 predominantly predominantly RB cord-014712-5u4e00q6 2117 10 involving involve VBG cord-014712-5u4e00q6 2117 11 small small JJ cord-014712-5u4e00q6 2117 12 vessels vessel NNS cord-014712-5u4e00q6 2117 13 of of IN cord-014712-5u4e00q6 2117 14 the the DT cord-014712-5u4e00q6 2117 15 skin skin NN cord-014712-5u4e00q6 2117 16 and and CC cord-014712-5u4e00q6 2117 17 can can MD cord-014712-5u4e00q6 2117 18 be be VB cord-014712-5u4e00q6 2117 19 associated associate VBN cord-014712-5u4e00q6 2117 20 with with IN cord-014712-5u4e00q6 2117 21 drugs drug NNS cord-014712-5u4e00q6 2117 22 or or CC cord-014712-5u4e00q6 2117 23 can can MD cord-014712-5u4e00q6 2117 24 be be VB cord-014712-5u4e00q6 2117 25 found find VBN cord-014712-5u4e00q6 2117 26 as as IN cord-014712-5u4e00q6 2117 27 a a DT cord-014712-5u4e00q6 2117 28 component component NN cord-014712-5u4e00q6 2117 29 of of IN cord-014712-5u4e00q6 2117 30 other other JJ cord-014712-5u4e00q6 2117 31 disease disease NN cord-014712-5u4e00q6 2117 32 , , , cord-014712-5u4e00q6 2117 33 such such JJ cord-014712-5u4e00q6 2117 34 as as IN cord-014712-5u4e00q6 2117 35 infections infection NNS cord-014712-5u4e00q6 2117 36 , , , cord-014712-5u4e00q6 2117 37 connective connective JJ cord-014712-5u4e00q6 2117 38 tissue tissue NN cord-014712-5u4e00q6 2117 39 disorders disorder NNS cord-014712-5u4e00q6 2117 40 , , , cord-014712-5u4e00q6 2117 41 and and CC cord-014712-5u4e00q6 2117 42 malignancies malignancy NNS cord-014712-5u4e00q6 2117 43 . . . cord-014712-5u4e00q6 2118 1 Infectious infectious JJ cord-014712-5u4e00q6 2118 2 agents agent NNS cord-014712-5u4e00q6 2118 3 can can MD cord-014712-5u4e00q6 2118 4 cause cause VB cord-014712-5u4e00q6 2118 5 vasculitis vasculitis NN cord-014712-5u4e00q6 2118 6 directly directly RB cord-014712-5u4e00q6 2118 7 or or CC cord-014712-5u4e00q6 2118 8 clinically clinically RB cord-014712-5u4e00q6 2118 9 mimic mimic VB cord-014712-5u4e00q6 2118 10 primary primary JJ cord-014712-5u4e00q6 2118 11 vasculitis vasculitis NN cord-014712-5u4e00q6 2118 12 .Multiple .Multiple . cord-014712-5u4e00q6 2118 13 infectious infectious JJ cord-014712-5u4e00q6 2118 14 agents agent NNS cord-014712-5u4e00q6 2118 15 have have VBP cord-014712-5u4e00q6 2118 16 been be VBN cord-014712-5u4e00q6 2118 17 suspected suspect VBN cord-014712-5u4e00q6 2118 18 as as IN cord-014712-5u4e00q6 2118 19 triggering trigger VBG cord-014712-5u4e00q6 2118 20 or or CC cord-014712-5u4e00q6 2118 21 contributory contributory JJ cord-014712-5u4e00q6 2118 22 factors factor NNS cord-014712-5u4e00q6 2118 23 in in IN cord-014712-5u4e00q6 2118 24 the the DT cord-014712-5u4e00q6 2118 25 vasculitic vasculitic JJ cord-014712-5u4e00q6 2118 26 process process NN cord-014712-5u4e00q6 2118 27 . . . cord-014712-5u4e00q6 2119 1 Several several JJ cord-014712-5u4e00q6 2119 2 factors factor NNS cord-014712-5u4e00q6 2119 3 contribute contribute VBP cord-014712-5u4e00q6 2119 4 to to IN cord-014712-5u4e00q6 2119 5 the the DT cord-014712-5u4e00q6 2119 6 primary primary JJ cord-014712-5u4e00q6 2119 7 vasculitis vasculitis NN cord-014712-5u4e00q6 2119 8 related relate VBN cord-014712-5u4e00q6 2119 9 to to IN cord-014712-5u4e00q6 2119 10 infections infection NNS cord-014712-5u4e00q6 2119 11 : : : cord-014712-5u4e00q6 2119 12 a a DT cord-014712-5u4e00q6 2119 13 type type NN cord-014712-5u4e00q6 2119 14 3 3 CD cord-014712-5u4e00q6 2119 15 or or CC cord-014712-5u4e00q6 2119 16 immune immune JJ cord-014712-5u4e00q6 2119 17 - - HYPH cord-014712-5u4e00q6 2119 18 complex complex JJ cord-014712-5u4e00q6 2119 19 reaction reaction NN cord-014712-5u4e00q6 2119 20 , , , cord-014712-5u4e00q6 2119 21 cell cell NN cord-014712-5u4e00q6 2119 22 - - HYPH cord-014712-5u4e00q6 2119 23 mediated mediate VBN cord-014712-5u4e00q6 2119 24 hypersensitivity hypersensitivity NN cord-014712-5u4e00q6 2119 25 , , , cord-014712-5u4e00q6 2119 26 abnormal abnormal JJ cord-014712-5u4e00q6 2119 27 immune immune JJ cord-014712-5u4e00q6 2119 28 regulation regulation NN cord-014712-5u4e00q6 2119 29 , , , cord-014712-5u4e00q6 2119 30 and and CC cord-014712-5u4e00q6 2119 31 direct direct JJ cord-014712-5u4e00q6 2119 32 endothelial endothelial JJ cord-014712-5u4e00q6 2119 33 cell cell NN cord-014712-5u4e00q6 2119 34 invasion invasion NN cord-014712-5u4e00q6 2119 35 by by IN cord-014712-5u4e00q6 2119 36 infectious infectious JJ cord-014712-5u4e00q6 2119 37 agents agent NNS cord-014712-5u4e00q6 2119 38 . . . cord-014712-5u4e00q6 2120 1 In in IN cord-014712-5u4e00q6 2120 2 our -PRON- PRP$ cord-014712-5u4e00q6 2120 3 case case NN cord-014712-5u4e00q6 2120 4 , , , cord-014712-5u4e00q6 2120 5 extensive extensive JJ cord-014712-5u4e00q6 2120 6 evaluation evaluation NN cord-014712-5u4e00q6 2120 7 was be VBD cord-014712-5u4e00q6 2120 8 performed perform VBN cord-014712-5u4e00q6 2120 9 to to TO cord-014712-5u4e00q6 2120 10 determine determine VB cord-014712-5u4e00q6 2120 11 the the DT cord-014712-5u4e00q6 2120 12 underlying underlying JJ cord-014712-5u4e00q6 2120 13 vasculitis vasculitis NN cord-014712-5u4e00q6 2120 14 process process NN cord-014712-5u4e00q6 2120 15 . . . cord-014712-5u4e00q6 2121 1 Clinical clinical JJ cord-014712-5u4e00q6 2121 2 and and CC cord-014712-5u4e00q6 2121 3 laboratory laboratory NN cord-014712-5u4e00q6 2121 4 examinations examination NNS cord-014712-5u4e00q6 2121 5 revealed reveal VBD cord-014712-5u4e00q6 2121 6 no no DT cord-014712-5u4e00q6 2121 7 association association NN cord-014712-5u4e00q6 2121 8 between between IN cord-014712-5u4e00q6 2121 9 vasculitis vasculitis NN cord-014712-5u4e00q6 2121 10 and and CC cord-014712-5u4e00q6 2121 11 other other JJ cord-014712-5u4e00q6 2121 12 infections infection NNS cord-014712-5u4e00q6 2121 13 or or CC cord-014712-5u4e00q6 2121 14 an an DT cord-014712-5u4e00q6 2121 15 underlying underlying JJ cord-014712-5u4e00q6 2121 16 connective connective JJ cord-014712-5u4e00q6 2121 17 tissue tissue NN cord-014712-5u4e00q6 2121 18 disease disease NN cord-014712-5u4e00q6 2121 19 or or CC cord-014712-5u4e00q6 2121 20 medication medication NN cord-014712-5u4e00q6 2121 21 . . . cord-014712-5u4e00q6 2122 1 She -PRON- PRP cord-014712-5u4e00q6 2122 2 responded respond VBD cord-014712-5u4e00q6 2122 3 well well RB cord-014712-5u4e00q6 2122 4 to to IN cord-014712-5u4e00q6 2122 5 ceftriaxone ceftriaxone NN cord-014712-5u4e00q6 2122 6 treatment treatment NN cord-014712-5u4e00q6 2122 7 , , , cord-014712-5u4e00q6 2122 8 and and CC cord-014712-5u4e00q6 2122 9 clinical clinical JJ cord-014712-5u4e00q6 2122 10 manifestations manifestation NNS cord-014712-5u4e00q6 2122 11 gradually gradually RB cord-014712-5u4e00q6 2122 12 resolved resolve VBN cord-014712-5u4e00q6 2122 13 within within IN cord-014712-5u4e00q6 2122 14 a a DT cord-014712-5u4e00q6 2122 15 few few JJ cord-014712-5u4e00q6 2122 16 days day NNS cord-014712-5u4e00q6 2122 17 , , , cord-014712-5u4e00q6 2122 18 providing provide VBG cord-014712-5u4e00q6 2122 19 strong strong JJ cord-014712-5u4e00q6 2122 20 evidence evidence NN cord-014712-5u4e00q6 2122 21 that that IN cord-014712-5u4e00q6 2122 22 improvement improvement NN cord-014712-5u4e00q6 2122 23 of of IN cord-014712-5u4e00q6 2122 24 the the DT cord-014712-5u4e00q6 2122 25 vasculitic vasculitic JJ cord-014712-5u4e00q6 2122 26 lesions lesion NNS cord-014712-5u4e00q6 2122 27 was be VBD cord-014712-5u4e00q6 2122 28 due due JJ cord-014712-5u4e00q6 2122 29 to to IN cord-014712-5u4e00q6 2122 30 elimination elimination NN cord-014712-5u4e00q6 2122 31 of of IN cord-014712-5u4e00q6 2122 32 the the DT cord-014712-5u4e00q6 2122 33 salmonella salmonella NN cord-014712-5u4e00q6 2122 34 with with IN cord-014712-5u4e00q6 2122 35 antibiotics antibiotic NNS cord-014712-5u4e00q6 2122 36 Conclusion conclusion NN cord-014712-5u4e00q6 2122 37 : : : cord-014712-5u4e00q6 2122 38 Our -PRON- PRP$ cord-014712-5u4e00q6 2122 39 patient patient NN cord-014712-5u4e00q6 2122 40 has have VBZ cord-014712-5u4e00q6 2122 41 one one CD cord-014712-5u4e00q6 2122 42 of of IN cord-014712-5u4e00q6 2122 43 the the DT cord-014712-5u4e00q6 2122 44 exceptional exceptional JJ cord-014712-5u4e00q6 2122 45 forms form NNS cord-014712-5u4e00q6 2122 46 of of IN cord-014712-5u4e00q6 2122 47 IL-12Rb1 IL-12Rb1 NNS cord-014712-5u4e00q6 2122 48 deficiency deficiency NN cord-014712-5u4e00q6 2122 49 , , , cord-014712-5u4e00q6 2122 50 with with IN cord-014712-5u4e00q6 2122 51 recurrent recurrent JJ cord-014712-5u4e00q6 2122 52 CLV CLV NNP cord-014712-5u4e00q6 2122 53 due due IN cord-014712-5u4e00q6 2122 54 to to IN cord-014712-5u4e00q6 2122 55 Salmonella Salmonella NNP cord-014712-5u4e00q6 2122 56 enteritidis enteritidis NN cord-014712-5u4e00q6 2122 57 . . . cord-014712-5u4e00q6 2123 1 Although although IN cord-014712-5u4e00q6 2123 2 common common JJ cord-014712-5u4e00q6 2123 3 presentations presentation NNS cord-014712-5u4e00q6 2123 4 for for IN cord-014712-5u4e00q6 2123 5 Salmonella Salmonella NNP cord-014712-5u4e00q6 2123 6 infection infection NN cord-014712-5u4e00q6 2123 7 in in IN cord-014712-5u4e00q6 2123 8 individuals individual NNS cord-014712-5u4e00q6 2123 9 with with IN cord-014712-5u4e00q6 2123 10 IL-12Rb1 IL-12Rb1 NNP cord-014712-5u4e00q6 2123 11 deficiency deficiency NN cord-014712-5u4e00q6 2123 12 are be VBP cord-014712-5u4e00q6 2123 13 lymphadenopathy lymphadenopathy JJ cord-014712-5u4e00q6 2123 14 and and CC cord-014712-5u4e00q6 2123 15 bacteremia bacteremia NN cord-014712-5u4e00q6 2123 16 , , , cord-014712-5u4e00q6 2123 17 it -PRON- PRP cord-014712-5u4e00q6 2123 18 can can MD cord-014712-5u4e00q6 2123 19 be be VB cord-014712-5u4e00q6 2123 20 present present JJ cord-014712-5u4e00q6 2123 21 clinically clinically RB cord-014712-5u4e00q6 2123 22 as as IN cord-014712-5u4e00q6 2123 23 CLV CLV NNP cord-014712-5u4e00q6 2123 24 . . . cord-014712-5u4e00q6 2124 1 Some some DT cord-014712-5u4e00q6 2124 2 infections infection NNS cord-014712-5u4e00q6 2124 3 such such JJ cord-014712-5u4e00q6 2124 4 as as IN cord-014712-5u4e00q6 2124 5 Salmonella Salmonella NNP cord-014712-5u4e00q6 2124 6 may may MD cord-014712-5u4e00q6 2124 7 be be VB cord-014712-5u4e00q6 2124 8 responsible responsible JJ cord-014712-5u4e00q6 2124 9 for for IN cord-014712-5u4e00q6 2124 10 different different JJ cord-014712-5u4e00q6 2124 11 types type NNS cord-014712-5u4e00q6 2124 12 of of IN cord-014712-5u4e00q6 2124 13 vasculitis vasculitis NN cord-014712-5u4e00q6 2124 14 even even RB cord-014712-5u4e00q6 2124 15 though though IN cord-014712-5u4e00q6 2124 16 they -PRON- PRP cord-014712-5u4e00q6 2124 17 are be VBP cord-014712-5u4e00q6 2124 18 not not RB cord-014712-5u4e00q6 2124 19 common common JJ cord-014712-5u4e00q6 2124 20 . . . cord-014712-5u4e00q6 2125 1 In in IN cord-014712-5u4e00q6 2125 2 this this DT cord-014712-5u4e00q6 2125 3 respect respect NN cord-014712-5u4e00q6 2125 4 , , , cord-014712-5u4e00q6 2125 5 clinicians clinician NNS cord-014712-5u4e00q6 2125 6 should should MD cord-014712-5u4e00q6 2125 7 be be VB cord-014712-5u4e00q6 2125 8 aware aware JJ cord-014712-5u4e00q6 2125 9 of of IN cord-014712-5u4e00q6 2125 10 possible possible JJ cord-014712-5u4e00q6 2125 11 infectious infectious JJ cord-014712-5u4e00q6 2125 12 causes cause NNS cord-014712-5u4e00q6 2125 13 of of IN cord-014712-5u4e00q6 2125 14 vasculitis vasculitis NN cord-014712-5u4e00q6 2125 15 , , , cord-014712-5u4e00q6 2125 16 and and CC cord-014712-5u4e00q6 2125 17 children child NNS cord-014712-5u4e00q6 2125 18 presenting present VBG cord-014712-5u4e00q6 2125 19 with with IN cord-014712-5u4e00q6 2125 20 unusual unusual JJ cord-014712-5u4e00q6 2125 21 recurrent recurrent JJ cord-014712-5u4e00q6 2125 22 infections infection NNS cord-014712-5u4e00q6 2125 23 caused cause VBN cord-014712-5u4e00q6 2125 24 by by IN cord-014712-5u4e00q6 2125 25 non non JJ cord-014712-5u4e00q6 2125 26 typhoidal typhoidal NNP cord-014712-5u4e00q6 2125 27 Salmonella Salmonella NNP cord-014712-5u4e00q6 2125 28 , , , cord-014712-5u4e00q6 2125 29 BCG BCG NNP cord-014712-5u4e00q6 2125 30 , , , cord-014712-5u4e00q6 2125 31 or or CC cord-014712-5u4e00q6 2125 32 NTM NTM NNP cord-014712-5u4e00q6 2125 33 should should MD cord-014712-5u4e00q6 2125 34 be be VB cord-014712-5u4e00q6 2125 35 investigated investigate VBN cord-014712-5u4e00q6 2125 36 for for IN cord-014712-5u4e00q6 2125 37 IFN IFN NNP cord-014712-5u4e00q6 2125 38 - - HYPH cord-014712-5u4e00q6 2125 39 γ γ NN cord-014712-5u4e00q6 2125 40 ⁄ ⁄ NN cord-014712-5u4e00q6 2125 41 IL-12 IL-12 NNP cord-014712-5u4e00q6 2125 42 pathway pathway NN cord-014712-5u4e00q6 2125 43 defects defect NNS cord-014712-5u4e00q6 2125 44 . . . cord-014712-5u4e00q6 2126 1 Gülez Gülez NNP cord-014712-5u4e00q6 2126 2 N. N. NNP cord-014712-5u4e00q6 2126 3 ; ; : cord-014712-5u4e00q6 2126 4 Genel Genel NNP cord-014712-5u4e00q6 2126 5 F. F. NNP cord-014712-5u4e00q6 2127 1 Dr. Dr. NNP cord-014712-5u4e00q6 2127 2 Behcet Behcet NNP cord-014712-5u4e00q6 2127 3 Uz Uz NNP cord-014712-5u4e00q6 2127 4 Children Children NNP cord-014712-5u4e00q6 2127 5 Hospital Hospital NNP cord-014712-5u4e00q6 2127 6 Allergy Allergy NNP cord-014712-5u4e00q6 2127 7 - - HYPH cord-014712-5u4e00q6 2127 8 Immunology Immunology NNP cord-014712-5u4e00q6 2127 9 Department Department NNP cord-014712-5u4e00q6 2127 10 , , , cord-014712-5u4e00q6 2127 11 Izmir Izmir NNP cord-014712-5u4e00q6 2127 12 , , , cord-014712-5u4e00q6 2127 13 Turkiye Turkiye NNP cord-014712-5u4e00q6 2128 1 The the DT cord-014712-5u4e00q6 2128 2 complement complement NN cord-014712-5u4e00q6 2128 3 system system NN cord-014712-5u4e00q6 2128 4 is be VBZ cord-014712-5u4e00q6 2128 5 an an DT cord-014712-5u4e00q6 2128 6 important important JJ cord-014712-5u4e00q6 2128 7 part part NN cord-014712-5u4e00q6 2128 8 of of IN cord-014712-5u4e00q6 2128 9 the the DT cord-014712-5u4e00q6 2128 10 innate innate JJ cord-014712-5u4e00q6 2128 11 immune immune JJ cord-014712-5u4e00q6 2128 12 defense defense NN cord-014712-5u4e00q6 2128 13 and and CC cord-014712-5u4e00q6 2128 14 also also RB cord-014712-5u4e00q6 2128 15 plays play VBZ cord-014712-5u4e00q6 2128 16 a a DT cord-014712-5u4e00q6 2128 17 major major JJ cord-014712-5u4e00q6 2128 18 role role NN cord-014712-5u4e00q6 2128 19 in in IN cord-014712-5u4e00q6 2128 20 shaping shape VBG cord-014712-5u4e00q6 2128 21 the the DT cord-014712-5u4e00q6 2128 22 adaptive adaptive JJ cord-014712-5u4e00q6 2128 23 immune immune JJ cord-014712-5u4e00q6 2128 24 response response NN cord-014712-5u4e00q6 2128 25 . . . cord-014712-5u4e00q6 2129 1 These these DT cord-014712-5u4e00q6 2129 2 functions function NNS cord-014712-5u4e00q6 2129 3 are be VBP cord-014712-5u4e00q6 2129 4 required require VBN cord-014712-5u4e00q6 2129 5 for for IN cord-014712-5u4e00q6 2129 6 a a DT cord-014712-5u4e00q6 2129 7 good good JJ cord-014712-5u4e00q6 2129 8 defense defense NN cord-014712-5u4e00q6 2129 9 against against IN cord-014712-5u4e00q6 2129 10 infections infection NNS cord-014712-5u4e00q6 2129 11 , , , cord-014712-5u4e00q6 2129 12 especially especially RB cord-014712-5u4e00q6 2129 13 bacteria bacteria NNS cord-014712-5u4e00q6 2129 14 . . . cord-014712-5u4e00q6 2130 1 The the DT cord-014712-5u4e00q6 2130 2 C8 c8 NN cord-014712-5u4e00q6 2130 3 deficiency deficiency NN cord-014712-5u4e00q6 2130 4 is be VBZ cord-014712-5u4e00q6 2130 5 a a DT cord-014712-5u4e00q6 2130 6 rare rare JJ cord-014712-5u4e00q6 2130 7 disease disease NN cord-014712-5u4e00q6 2130 8 that that WDT cord-014712-5u4e00q6 2130 9 is be VBZ cord-014712-5u4e00q6 2130 10 associated associate VBN cord-014712-5u4e00q6 2130 11 with with IN cord-014712-5u4e00q6 2130 12 recurrent recurrent JJ cord-014712-5u4e00q6 2130 13 neisserial neisserial JJ cord-014712-5u4e00q6 2130 14 infections infection NNS cord-014712-5u4e00q6 2130 15 , , , cord-014712-5u4e00q6 2130 16 especially especially RB cord-014712-5u4e00q6 2130 17 meningits meningit NNS cord-014712-5u4e00q6 2130 18 caused cause VBN cord-014712-5u4e00q6 2130 19 by by IN cord-014712-5u4e00q6 2130 20 N. N. NNP cord-014712-5u4e00q6 2130 21 meningitidis meningitidis NNP cord-014712-5u4e00q6 2130 22 . . . cord-014712-5u4e00q6 2131 1 The the DT cord-014712-5u4e00q6 2131 2 patient patient NN cord-014712-5u4e00q6 2131 3 , , , cord-014712-5u4e00q6 2131 4 a a DT cord-014712-5u4e00q6 2131 5 seven seven CD cord-014712-5u4e00q6 2131 6 years year NNS cord-014712-5u4e00q6 2131 7 old old JJ cord-014712-5u4e00q6 2131 8 girl girl NN cord-014712-5u4e00q6 2131 9 was be VBD cord-014712-5u4e00q6 2131 10 admitted admit VBN cord-014712-5u4e00q6 2131 11 to to IN cord-014712-5u4e00q6 2131 12 hospital hospital NN cord-014712-5u4e00q6 2131 13 with with IN cord-014712-5u4e00q6 2131 14 high high JJ cord-014712-5u4e00q6 2131 15 fever fever NN cord-014712-5u4e00q6 2131 16 and and CC cord-014712-5u4e00q6 2131 17 diffuse diffuse JJ cord-014712-5u4e00q6 2131 18 , , , cord-014712-5u4e00q6 2131 19 purple purple JJ cord-014712-5u4e00q6 2131 20 - - HYPH cord-014712-5u4e00q6 2131 21 coloured coloured JJ cord-014712-5u4e00q6 2131 22 skin skin NN cord-014712-5u4e00q6 2131 23 lesions lesion NNS cord-014712-5u4e00q6 2131 24 . . . cord-014712-5u4e00q6 2132 1 Her -PRON- PRP$ cord-014712-5u4e00q6 2132 2 symptoms symptom NNS cord-014712-5u4e00q6 2132 3 gave give VBD cord-014712-5u4e00q6 2132 4 the the DT cord-014712-5u4e00q6 2132 5 diagnosise diagnosise NN cord-014712-5u4e00q6 2132 6 meningococcal meningococcal JJ cord-014712-5u4e00q6 2132 7 meningitis meningitis NN cord-014712-5u4e00q6 2132 8 . . . cord-014712-5u4e00q6 2133 1 She -PRON- PRP cord-014712-5u4e00q6 2133 2 had have VBD cord-014712-5u4e00q6 2133 3 also also RB cord-014712-5u4e00q6 2133 4 earlier early RBR cord-014712-5u4e00q6 2133 5 been be VBN cord-014712-5u4e00q6 2133 6 diagnosed diagnose VBN cord-014712-5u4e00q6 2133 7 with with IN cord-014712-5u4e00q6 2133 8 the the DT cord-014712-5u4e00q6 2133 9 same same JJ cord-014712-5u4e00q6 2133 10 disease disease NN cord-014712-5u4e00q6 2133 11 when when WRB cord-014712-5u4e00q6 2133 12 she -PRON- PRP cord-014712-5u4e00q6 2133 13 was be VBD cord-014712-5u4e00q6 2133 14 5 5 CD cord-014712-5u4e00q6 2133 15 years year NNS cord-014712-5u4e00q6 2133 16 old old JJ cord-014712-5u4e00q6 2133 17 . . . cord-014712-5u4e00q6 2134 1 A a DT cord-014712-5u4e00q6 2134 2 sister sister NN cord-014712-5u4e00q6 2134 3 to to IN cord-014712-5u4e00q6 2134 4 the the DT cord-014712-5u4e00q6 2134 5 patient patient NN cord-014712-5u4e00q6 2134 6 had have VBD cord-014712-5u4e00q6 2134 7 died die VBN cord-014712-5u4e00q6 2134 8 from from IN cord-014712-5u4e00q6 2134 9 meningitis meningitis NN cord-014712-5u4e00q6 2134 10 at at IN cord-014712-5u4e00q6 2134 11 3 3 CD cord-014712-5u4e00q6 2134 12 years year NNS cord-014712-5u4e00q6 2134 13 of of IN cord-014712-5u4e00q6 2134 14 age age NN cord-014712-5u4e00q6 2134 15 . . . cord-014712-5u4e00q6 2135 1 She -PRON- PRP cord-014712-5u4e00q6 2135 2 has have VBZ cord-014712-5u4e00q6 2135 3 also also RB cord-014712-5u4e00q6 2135 4 one one CD cord-014712-5u4e00q6 2135 5 older old JJR cord-014712-5u4e00q6 2135 6 and and CC cord-014712-5u4e00q6 2135 7 one one CD cord-014712-5u4e00q6 2135 8 younger young JJR cord-014712-5u4e00q6 2135 9 sister sister NN cord-014712-5u4e00q6 2135 10 . . . cord-014712-5u4e00q6 2136 1 There there EX cord-014712-5u4e00q6 2136 2 is be VBZ cord-014712-5u4e00q6 2136 3 no no DT cord-014712-5u4e00q6 2136 4 consanguinity consanguinity NN cord-014712-5u4e00q6 2136 5 between between IN cord-014712-5u4e00q6 2136 6 her -PRON- PRP$ cord-014712-5u4e00q6 2136 7 parents parent NNS cord-014712-5u4e00q6 2136 8 . . . cord-014712-5u4e00q6 2137 1 The the DT cord-014712-5u4e00q6 2137 2 laboratory laboratory NN cord-014712-5u4e00q6 2137 3 analyses analysis NNS cord-014712-5u4e00q6 2137 4 of of IN cord-014712-5u4e00q6 2137 5 the the DT cord-014712-5u4e00q6 2137 6 classical classical JJ cord-014712-5u4e00q6 2137 7 pathway pathway NN cord-014712-5u4e00q6 2137 8 measured measure VBN cord-014712-5u4e00q6 2137 9 as as IN cord-014712-5u4e00q6 2137 10 complement complement JJ cord-014712-5u4e00q6 2137 11 hemolytic hemolytic JJ cord-014712-5u4e00q6 2137 12 activity activity NN cord-014712-5u4e00q6 2137 13 ( ( -LRB- cord-014712-5u4e00q6 2137 14 CH50 CH50 NNP cord-014712-5u4e00q6 2137 15 ) ) -RRB- cord-014712-5u4e00q6 2137 16 and and CC cord-014712-5u4e00q6 2138 1 C8 c8 NN cord-014712-5u4e00q6 2138 2 concentration concentration NN cord-014712-5u4e00q6 2138 3 revealed reveal VBD cord-014712-5u4e00q6 2138 4 no no DT cord-014712-5u4e00q6 2138 5 activity activity NN cord-014712-5u4e00q6 2138 6 and and CC cord-014712-5u4e00q6 2138 7 absence absence NN cord-014712-5u4e00q6 2138 8 of of IN cord-014712-5u4e00q6 2138 9 C8 c8 NN cord-014712-5u4e00q6 2138 10 , , , cord-014712-5u4e00q6 2138 11 respectively respectively RB cord-014712-5u4e00q6 2138 12 . . . cord-014712-5u4e00q6 2139 1 Analysis analysis NN cord-014712-5u4e00q6 2139 2 of of IN cord-014712-5u4e00q6 2139 3 serum serum NN cord-014712-5u4e00q6 2139 4 from from IN cord-014712-5u4e00q6 2139 5 her -PRON- PRP$ cord-014712-5u4e00q6 2139 6 younger young JJR cord-014712-5u4e00q6 2139 7 sister sister NN cord-014712-5u4e00q6 2139 8 showed show VBD cord-014712-5u4e00q6 2139 9 the the DT cord-014712-5u4e00q6 2139 10 same same JJ cord-014712-5u4e00q6 2139 11 results result NNS cord-014712-5u4e00q6 2139 12 , , , cord-014712-5u4e00q6 2139 13 while while IN cord-014712-5u4e00q6 2139 14 her -PRON- PRP$ cord-014712-5u4e00q6 2139 15 older old JJR cord-014712-5u4e00q6 2139 16 sister sister NN cord-014712-5u4e00q6 2139 17 's 's POS cord-014712-5u4e00q6 2139 18 CH50 CH50 NNP cord-014712-5u4e00q6 2139 19 and and CC cord-014712-5u4e00q6 2139 20 C8 c8 NN cord-014712-5u4e00q6 2139 21 levels level NNS cord-014712-5u4e00q6 2139 22 were be VBD cord-014712-5u4e00q6 2139 23 found find VBN cord-014712-5u4e00q6 2139 24 normal normal JJ cord-014712-5u4e00q6 2139 25 . . . cord-014712-5u4e00q6 2140 1 Thus thus RB cord-014712-5u4e00q6 2140 2 , , , cord-014712-5u4e00q6 2140 3 our -PRON- PRP$ cord-014712-5u4e00q6 2140 4 patient patient NN cord-014712-5u4e00q6 2140 5 and and CC cord-014712-5u4e00q6 2140 6 her -PRON- PRP$ cord-014712-5u4e00q6 2140 7 younger young JJR cord-014712-5u4e00q6 2140 8 sister sister NN cord-014712-5u4e00q6 2140 9 were be VBD cord-014712-5u4e00q6 2140 10 diagnosed diagnose VBN cord-014712-5u4e00q6 2140 11 with with IN cord-014712-5u4e00q6 2140 12 hereditary hereditary JJ cord-014712-5u4e00q6 2140 13 C8 C8 NNP cord-014712-5u4e00q6 2140 14 deficiency deficiency NN cord-014712-5u4e00q6 2140 15 . . . cord-014712-5u4e00q6 2141 1 The the DT cord-014712-5u4e00q6 2141 2 genetic genetic JJ cord-014712-5u4e00q6 2141 3 analyses analysis NNS cord-014712-5u4e00q6 2141 4 have have VBP cord-014712-5u4e00q6 2141 5 not not RB cord-014712-5u4e00q6 2141 6 been be VBN cord-014712-5u4e00q6 2141 7 completed complete VBN cord-014712-5u4e00q6 2141 8 yet yet RB cord-014712-5u4e00q6 2141 9 . . . cord-014712-5u4e00q6 2142 1 We -PRON- PRP cord-014712-5u4e00q6 2142 2 here here RB cord-014712-5u4e00q6 2142 3 report report VBP cord-014712-5u4e00q6 2142 4 the the DT cord-014712-5u4e00q6 2142 5 third third JJ cord-014712-5u4e00q6 2142 6 and and CC cord-014712-5u4e00q6 2142 7 fourth fourth JJ cord-014712-5u4e00q6 2142 8 cases case NNS cord-014712-5u4e00q6 2142 9 of of IN cord-014712-5u4e00q6 2142 10 C8 c8 NN cord-014712-5u4e00q6 2142 11 deficiency deficiency NN cord-014712-5u4e00q6 2142 12 in in IN cord-014712-5u4e00q6 2142 13 Turkish turkish JJ cord-014712-5u4e00q6 2142 14 patients patient NNS cord-014712-5u4e00q6 2142 15 . . . cord-014712-5u4e00q6 2143 1 Interferon interferon NN cord-014712-5u4e00q6 2143 2 - - HYPH cord-014712-5u4e00q6 2143 3 g g NN cord-014712-5u4e00q6 2143 4 receptor-1 receptor-1 NNP cord-014712-5u4e00q6 2143 5 ( ( -LRB- cord-014712-5u4e00q6 2143 6 IFNgR1 IFNgR1 NNP cord-014712-5u4e00q6 2143 7 ) ) -RRB- cord-014712-5u4e00q6 2143 8 deficiency deficiency NN cord-014712-5u4e00q6 2143 9 is be VBZ cord-014712-5u4e00q6 2143 10 caused cause VBN cord-014712-5u4e00q6 2143 11 by by IN cord-014712-5u4e00q6 2143 12 mutations mutation NNS cord-014712-5u4e00q6 2143 13 in in IN cord-014712-5u4e00q6 2143 14 IFN IFN NNP cord-014712-5u4e00q6 2143 15 - - HYPH cord-014712-5u4e00q6 2143 16 γ γ NNP cord-014712-5u4e00q6 2143 17 receptor-1 receptor-1 NNP cord-014712-5u4e00q6 2143 18 gene gene NN cord-014712-5u4e00q6 2143 19 and and CC cord-014712-5u4e00q6 2143 20 is be VBZ cord-014712-5u4e00q6 2143 21 characterized characterize VBN cord-014712-5u4e00q6 2143 22 mainly mainly RB cord-014712-5u4e00q6 2143 23 by by IN cord-014712-5u4e00q6 2143 24 susceptibility susceptibility NN cord-014712-5u4e00q6 2143 25 to to IN cord-014712-5u4e00q6 2143 26 mycobacterial mycobacterial NNP cord-014712-5u4e00q6 2143 27 disease disease NN cord-014712-5u4e00q6 2143 28 . . . cord-014712-5u4e00q6 2144 1 We -PRON- PRP cord-014712-5u4e00q6 2144 2 report report VBP cord-014712-5u4e00q6 2144 3 a a DT cord-014712-5u4e00q6 2144 4 boy boy NN cord-014712-5u4e00q6 2144 5 with with IN cord-014712-5u4e00q6 2144 6 complete complete JJ cord-014712-5u4e00q6 2144 7 recessive recessive JJ cord-014712-5u4e00q6 2144 8 IFNgR1 IFNgR1 NNP cord-014712-5u4e00q6 2144 9 deficiency deficiency NN cord-014712-5u4e00q6 2144 10 , , , cord-014712-5u4e00q6 2144 11 afflicted afflict VBN cord-014712-5u4e00q6 2144 12 by by IN cord-014712-5u4e00q6 2144 13 recurrent recurrent JJ cord-014712-5u4e00q6 2144 14 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 2144 15 diseases disease NNS cord-014712-5u4e00q6 2144 16 with with IN cord-014712-5u4e00q6 2144 17 M. M. NNP cord-014712-5u4e00q6 2144 18 Bovis Bovis NNP cord-014712-5u4e00q6 2144 19 , , , cord-014712-5u4e00q6 2144 20 M M NNP cord-014712-5u4e00q6 2144 21 tuberculosis tuberculosis NN cord-014712-5u4e00q6 2144 22 , , , cord-014712-5u4e00q6 2144 23 M. M. NNP cord-014712-5u4e00q6 2144 24 avium avium NN cord-014712-5u4e00q6 2144 25 intracellulare intracellulare NNP cord-014712-5u4e00q6 2144 26 and and CC cord-014712-5u4e00q6 2144 27 M.fortuitum M.fortuitum NNS cord-014712-5u4e00q6 2144 28 . . . cord-014712-5u4e00q6 2145 1 Genetic genetic JJ cord-014712-5u4e00q6 2145 2 analysis analysis NN cord-014712-5u4e00q6 2145 3 showed show VBD cord-014712-5u4e00q6 2145 4 a a DT cord-014712-5u4e00q6 2145 5 homozygous homozygous JJ cord-014712-5u4e00q6 2145 6 mutation mutation NN cord-014712-5u4e00q6 2145 7 ( ( -LRB- cord-014712-5u4e00q6 2145 8 106insT 106inst CD cord-014712-5u4e00q6 2145 9 ) ) -RRB- cord-014712-5u4e00q6 2145 10 in in IN cord-014712-5u4e00q6 2145 11 IFNgR1 IFNgR1 NNP cord-014712-5u4e00q6 2145 12 gene gene NN cord-014712-5u4e00q6 2145 13 leading lead VBG cord-014712-5u4e00q6 2145 14 to to TO cord-014712-5u4e00q6 2145 15 complete complete VB cord-014712-5u4e00q6 2145 16 IFNgR1 IFNgR1 NNP cord-014712-5u4e00q6 2145 17 deficiency deficiency NN cord-014712-5u4e00q6 2145 18 . . . cord-014712-5u4e00q6 2146 1 In in IN cord-014712-5u4e00q6 2146 2 addition addition NN cord-014712-5u4e00q6 2146 3 , , , cord-014712-5u4e00q6 2146 4 he -PRON- PRP cord-014712-5u4e00q6 2146 5 had have VBD cord-014712-5u4e00q6 2146 6 atypical atypical JJ cord-014712-5u4e00q6 2146 7 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 2146 8 skin skin NN cord-014712-5u4e00q6 2146 9 lesions lesion NNS cord-014712-5u4e00q6 2146 10 caused cause VBN cord-014712-5u4e00q6 2146 11 by by IN cord-014712-5u4e00q6 2146 12 M.avium M.avium NNP cord-014712-5u4e00q6 2146 13 intracellulare intracellulare NNP cord-014712-5u4e00q6 2147 1 and and CC cord-014712-5u4e00q6 2147 2 he -PRON- PRP cord-014712-5u4e00q6 2147 3 developed develop VBD cord-014712-5u4e00q6 2147 4 scrotal scrotal JJ cord-014712-5u4e00q6 2147 5 and and CC cord-014712-5u4e00q6 2147 6 lower low JJR cord-014712-5u4e00q6 2147 7 limb limb NN cord-014712-5u4e00q6 2147 8 lymphedema lymphedema NN cord-014712-5u4e00q6 2147 9 secondary secondary JJ cord-014712-5u4e00q6 2147 10 to to IN cord-014712-5u4e00q6 2147 11 compression compression NN cord-014712-5u4e00q6 2147 12 of of IN cord-014712-5u4e00q6 2147 13 large large JJ cord-014712-5u4e00q6 2147 14 and and CC cord-014712-5u4e00q6 2147 15 fixed fix VBN cord-014712-5u4e00q6 2147 16 inguinal inguinal JJ cord-014712-5u4e00q6 2147 17 lymphadenopathies lymphadenopathy NNS cord-014712-5u4e00q6 2147 18 . . . cord-014712-5u4e00q6 2148 1 To to IN cord-014712-5u4e00q6 2148 2 our -PRON- PRP$ cord-014712-5u4e00q6 2148 3 knowledge knowledge NN cord-014712-5u4e00q6 2148 4 , , , cord-014712-5u4e00q6 2148 5 the the DT cord-014712-5u4e00q6 2148 6 patient patient NN cord-014712-5u4e00q6 2148 7 is be VBZ cord-014712-5u4e00q6 2148 8 the the DT cord-014712-5u4e00q6 2148 9 first first JJ cord-014712-5u4e00q6 2148 10 case case NN cord-014712-5u4e00q6 2148 11 with with IN cord-014712-5u4e00q6 2148 12 interleukin-12 interleukin-12 XX cord-014712-5u4e00q6 2148 13 / / SYM cord-014712-5u4e00q6 2148 14 interferon interferon NN cord-014712-5u4e00q6 2148 15 − − NNP cord-014712-5u4e00q6 2148 16 γ γ NN cord-014712-5u4e00q6 2148 17 pathway pathway NN cord-014712-5u4e00q6 2148 18 defect defect NN cord-014712-5u4e00q6 2148 19 and and CC cord-014712-5u4e00q6 2148 20 severe severe JJ cord-014712-5u4e00q6 2148 21 lymphedema lymphedema NN cord-014712-5u4e00q6 2148 22 . . . cord-014712-5u4e00q6 2149 1 Defects defect NNS cord-014712-5u4e00q6 2149 2 in in IN cord-014712-5u4e00q6 2149 3 the the DT cord-014712-5u4e00q6 2149 4 IL-12/ IL-12/ NNP cord-014712-5u4e00q6 2149 5 IFN IFN NNP cord-014712-5u4e00q6 2149 6 − − NNP cord-014712-5u4e00q6 2149 7 γ γ NN cord-014712-5u4e00q6 2149 8 pathway pathway NN cord-014712-5u4e00q6 2149 9 must must MD cord-014712-5u4e00q6 2149 10 be be VB cord-014712-5u4e00q6 2149 11 considered consider VBN cord-014712-5u4e00q6 2149 12 in in IN cord-014712-5u4e00q6 2149 13 patients patient NNS cord-014712-5u4e00q6 2149 14 with with IN cord-014712-5u4e00q6 2149 15 disseminated disseminate VBN cord-014712-5u4e00q6 2149 16 or or CC cord-014712-5u4e00q6 2149 17 recurrent recurrent JJ cord-014712-5u4e00q6 2149 18 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 2149 19 infections infection NNS cord-014712-5u4e00q6 2149 20 and and CC cord-014712-5u4e00q6 2149 21 in in IN cord-014712-5u4e00q6 2149 22 patients patient NNS cord-014712-5u4e00q6 2149 23 with with IN cord-014712-5u4e00q6 2149 24 severe severe JJ cord-014712-5u4e00q6 2149 25 viral viral JJ cord-014712-5u4e00q6 2149 26 infections infection NNS cord-014712-5u4e00q6 2149 27 , , , cord-014712-5u4e00q6 2149 28 especially especially RB cord-014712-5u4e00q6 2149 29 in in IN cord-014712-5u4e00q6 2149 30 countries country NNS cord-014712-5u4e00q6 2149 31 where where WRB cord-014712-5u4e00q6 2149 32 BCG BCG NNP cord-014712-5u4e00q6 2149 33 vaccination vaccination NN cord-014712-5u4e00q6 2149 34 is be VBZ cord-014712-5u4e00q6 2149 35 part part NN cord-014712-5u4e00q6 2149 36 of of IN cord-014712-5u4e00q6 2149 37 the the DT cord-014712-5u4e00q6 2149 38 national national NNP cord-014712-5u4e00q6 2149 39 health health NN cord-014712-5u4e00q6 2149 40 programme programme NN cord-014712-5u4e00q6 2149 41 . . . cord-014712-5u4e00q6 2150 1 It -PRON- PRP cord-014712-5u4e00q6 2150 2 must must MD cord-014712-5u4e00q6 2150 3 be be VB cord-014712-5u4e00q6 2150 4 kept keep VBN cord-014712-5u4e00q6 2150 5 in in IN cord-014712-5u4e00q6 2150 6 mind mind NN cord-014712-5u4e00q6 2150 7 that that IN cord-014712-5u4e00q6 2150 8 these these DT cord-014712-5u4e00q6 2150 9 patients patient NNS cord-014712-5u4e00q6 2150 10 may may MD cord-014712-5u4e00q6 2150 11 develop develop VB cord-014712-5u4e00q6 2150 12 granuloma granuloma NN cord-014712-5u4e00q6 2150 13 - - HYPH cord-014712-5u4e00q6 2150 14 like like JJ cord-014712-5u4e00q6 2150 15 skin skin NN cord-014712-5u4e00q6 2150 16 lesions lesion NNS cord-014712-5u4e00q6 2150 17 and and CC cord-014712-5u4e00q6 2150 18 severe severe JJ cord-014712-5u4e00q6 2150 19 lymphedema lymphedema NN cord-014712-5u4e00q6 2150 20 . . . cord-014712-5u4e00q6 2151 1 HSCT HSCT NNP cord-014712-5u4e00q6 2151 2 must must MD cord-014712-5u4e00q6 2151 3 be be VB cord-014712-5u4e00q6 2151 4 applied apply VBN cord-014712-5u4e00q6 2151 5 at at IN cord-014712-5u4e00q6 2151 6 the the DT cord-014712-5u4e00q6 2151 7 earliest early JJS cord-014712-5u4e00q6 2151 8 time time NN cord-014712-5u4e00q6 2151 9 before before IN cord-014712-5u4e00q6 2151 10 developing develop VBG cord-014712-5u4e00q6 2151 11 organ organ NN cord-014712-5u4e00q6 2151 12 damages damage NNS cord-014712-5u4e00q6 2151 13 . . . cord-014712-5u4e00q6 2152 1 T T NNP cord-014712-5u4e00q6 2152 2 lymphocyte lymphocyte NN cord-014712-5u4e00q6 2152 3 / / SYM cord-014712-5u4e00q6 2152 4 NK NK NNP cord-014712-5u4e00q6 2152 5 cells cell NNS cord-014712-5u4e00q6 2152 6 . . . cord-014712-5u4e00q6 2153 1 Restricted restricted JJ cord-014712-5u4e00q6 2153 2 defective defective JJ cord-014712-5u4e00q6 2153 3 molecules molecule NNS cord-014712-5u4e00q6 2153 4 in in IN cord-014712-5u4e00q6 2153 5 the the DT cord-014712-5u4e00q6 2153 6 circuit circuit NN cord-014712-5u4e00q6 2153 7 and and CC cord-014712-5u4e00q6 2153 8 recently recently RB cord-014712-5u4e00q6 2153 9 discovered discover VBD cord-014712-5u4e00q6 2153 10 CYBB CYBB NNP cord-014712-5u4e00q6 2153 11 responsible responsible JJ cord-014712-5u4e00q6 2153 12 for for IN cord-014712-5u4e00q6 2153 13 autophagocytic autophagocytic JJ cord-014712-5u4e00q6 2153 14 vacuole vacuole NN cord-014712-5u4e00q6 2153 15 and and CC cord-014712-5u4e00q6 2153 16 proteolysis proteolysis NN cord-014712-5u4e00q6 2153 17 have have VBP cord-014712-5u4e00q6 2153 18 been be VBN cord-014712-5u4e00q6 2153 19 identified identify VBN cord-014712-5u4e00q6 2153 20 in in IN cord-014712-5u4e00q6 2153 21 around around RB cord-014712-5u4e00q6 2153 22 60 60 CD cord-014712-5u4e00q6 2153 23 % % NN cord-014712-5u4e00q6 2153 24 of of IN cord-014712-5u4e00q6 2153 25 patients patient NNS cord-014712-5u4e00q6 2153 26 with with IN cord-014712-5u4e00q6 2153 27 the the DT cord-014712-5u4e00q6 2153 28 Mendelian mendelian JJ cord-014712-5u4e00q6 2153 29 susceptibility susceptibility NN cord-014712-5u4e00q6 2153 30 to to IN cord-014712-5u4e00q6 2153 31 the the DT cord-014712-5u4e00q6 2153 32 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 2153 33 disease disease NN cord-014712-5u4e00q6 2153 34 ( ( -LRB- cord-014712-5u4e00q6 2153 35 MSMD MSMD NNP cord-014712-5u4e00q6 2153 36 ) ) -RRB- cord-014712-5u4e00q6 2153 37 phenotype phenotype NN cord-014712-5u4e00q6 2153 38 . . . cord-014712-5u4e00q6 2154 1 Primary primary JJ cord-014712-5u4e00q6 2154 2 defects defect NNS cord-014712-5u4e00q6 2154 3 in in IN cord-014712-5u4e00q6 2154 4 oxidase oxidase NN cord-014712-5u4e00q6 2154 5 activity activity NN cord-014712-5u4e00q6 2154 6 in in IN cord-014712-5u4e00q6 2154 7 chronic chronic JJ cord-014712-5u4e00q6 2154 8 granulomatous granulomatous JJ cord-014712-5u4e00q6 2154 9 disease disease NN cord-014712-5u4e00q6 2154 10 ( ( -LRB- cord-014712-5u4e00q6 2154 11 CGD CGD NNP cord-014712-5u4e00q6 2154 12 ) ) -RRB- cord-014712-5u4e00q6 2154 13 lead lead NN cord-014712-5u4e00q6 2154 14 to to IN cord-014712-5u4e00q6 2154 15 severe severe JJ cord-014712-5u4e00q6 2154 16 , , , cord-014712-5u4e00q6 2154 17 life life NN cord-014712-5u4e00q6 2154 18 - - HYPH cord-014712-5u4e00q6 2154 19 threatening threaten VBG cord-014712-5u4e00q6 2154 20 infections infection NNS cord-014712-5u4e00q6 2154 21 . . . cord-014712-5u4e00q6 2155 1 The the DT cord-014712-5u4e00q6 2155 2 role role NN cord-014712-5u4e00q6 2155 3 of of IN cord-014712-5u4e00q6 2155 4 phagocytic phagocytic JJ cord-014712-5u4e00q6 2155 5 respiratory respiratory JJ cord-014712-5u4e00q6 2155 6 burst burst NN cord-014712-5u4e00q6 2155 7 in in IN cord-014712-5u4e00q6 2155 8 host host NN cord-014712-5u4e00q6 2155 9 defense defense NN cord-014712-5u4e00q6 2155 10 against against IN cord-014712-5u4e00q6 2155 11 mycobacterium mycobacterium NNP cord-014712-5u4e00q6 2155 12 tuberculosis tuberculosis NN cord-014712-5u4e00q6 2155 13 was be VBD cord-014712-5u4e00q6 2155 14 controversial controversial JJ cord-014712-5u4e00q6 2155 15 . . . cord-014712-5u4e00q6 2156 1 Previous previous JJ cord-014712-5u4e00q6 2156 2 studied study VBN cord-014712-5u4e00q6 2156 3 showed show VBD cord-014712-5u4e00q6 2156 4 that that IN cord-014712-5u4e00q6 2156 5 the the DT cord-014712-5u4e00q6 2156 6 critical critical JJ cord-014712-5u4e00q6 2156 7 role role NN cord-014712-5u4e00q6 2156 8 at at IN cord-014712-5u4e00q6 2156 9 reactive reactive JJ cord-014712-5u4e00q6 2156 10 oxidants oxidant NNS cord-014712-5u4e00q6 2156 11 is be VBZ cord-014712-5u4e00q6 2156 12 to to TO cord-014712-5u4e00q6 2156 13 serve serve VB cord-014712-5u4e00q6 2156 14 as as IN cord-014712-5u4e00q6 2156 15 intracellular intracellular JJ cord-014712-5u4e00q6 2156 16 signals signal NNS cord-014712-5u4e00q6 2156 17 for for IN cord-014712-5u4e00q6 2156 18 activation activation NN cord-014712-5u4e00q6 2156 19 of of IN cord-014712-5u4e00q6 2156 20 microbicidal microbicidal JJ cord-014712-5u4e00q6 2156 21 enzymes enzyme NNS cord-014712-5u4e00q6 2156 22 , , , cord-014712-5u4e00q6 2156 23 rather rather RB cord-014712-5u4e00q6 2156 24 than than IN cord-014712-5u4e00q6 2156 25 excretions excretion NNS cord-014712-5u4e00q6 2156 26 a a DT cord-014712-5u4e00q6 2156 27 microbicidal microbicidal JJ cord-014712-5u4e00q6 2156 28 effect effect NN cord-014712-5u4e00q6 2156 29 perse perse NN cord-014712-5u4e00q6 2156 30 . . . cord-014712-5u4e00q6 2157 1 The the DT cord-014712-5u4e00q6 2157 2 role role NN cord-014712-5u4e00q6 2157 3 of of IN cord-014712-5u4e00q6 2157 4 phagocytic phagocytic JJ cord-014712-5u4e00q6 2157 5 respiratory respiratory JJ cord-014712-5u4e00q6 2157 6 burst burst NN cord-014712-5u4e00q6 2157 7 in in IN cord-014712-5u4e00q6 2157 8 host host NN cord-014712-5u4e00q6 2157 9 defense defense NN cord-014712-5u4e00q6 2157 10 against against IN cord-014712-5u4e00q6 2157 11 M. M. NNP cord-014712-5u4e00q6 2157 12 TB TB NNP cord-014712-5u4e00q6 2157 13 is be VBZ cord-014712-5u4e00q6 2157 14 further far RBR cord-014712-5u4e00q6 2157 15 supported support VBN cord-014712-5u4e00q6 2157 16 by by IN cord-014712-5u4e00q6 2157 17 recent recent JJ cord-014712-5u4e00q6 2157 18 studies study NNS cord-014712-5u4e00q6 2157 19 discovered discover VBD cord-014712-5u4e00q6 2157 20 immunological immunological JJ cord-014712-5u4e00q6 2157 21 defects defect NNS cord-014712-5u4e00q6 2157 22 secondarily secondarily RB cord-014712-5u4e00q6 2157 23 affecting affect VBG cord-014712-5u4e00q6 2157 24 phagocyte phagocyte NNS cord-014712-5u4e00q6 2157 25 respiratory respiratory JJ cord-014712-5u4e00q6 2157 26 burst burst NN cord-014712-5u4e00q6 2157 27 function function NN cord-014712-5u4e00q6 2157 28 and and CC cord-014712-5u4e00q6 2157 29 resulting result VBG cord-014712-5u4e00q6 2157 30 in in IN cord-014712-5u4e00q6 2157 31 primary primary JJ cord-014712-5u4e00q6 2157 32 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 2157 33 with with IN cord-014712-5u4e00q6 2157 34 varied varied JJ cord-014712-5u4e00q6 2157 35 phenotypes phenotype NNS cord-014712-5u4e00q6 2157 36 , , , cord-014712-5u4e00q6 2157 37 including include VBG cord-014712-5u4e00q6 2157 38 susceptibilities susceptibility NNS cord-014712-5u4e00q6 2157 39 to to IN cord-014712-5u4e00q6 2157 40 pyogenic pyogenic JJ cord-014712-5u4e00q6 2157 41 or or CC cord-014712-5u4e00q6 2157 42 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 2157 43 infections infection NNS cord-014712-5u4e00q6 2157 44 . . . cord-014712-5u4e00q6 2158 1 The the DT cord-014712-5u4e00q6 2158 2 patients patient NNS cord-014712-5u4e00q6 2158 3 with with IN cord-014712-5u4e00q6 2158 4 severe severe JJ cord-014712-5u4e00q6 2158 5 PID PID NNP cord-014712-5u4e00q6 2158 6 's 's POS cord-014712-5u4e00q6 2158 7 like like IN cord-014712-5u4e00q6 2158 8 SCID SCID NNP cord-014712-5u4e00q6 2158 9 have have VBP cord-014712-5u4e00q6 2158 10 broader broad JJR cord-014712-5u4e00q6 2158 11 diverse diverse JJ cord-014712-5u4e00q6 2158 12 infections infection NNS cord-014712-5u4e00q6 2158 13 susceptibility susceptibility NN cord-014712-5u4e00q6 2158 14 and and CC cord-014712-5u4e00q6 2158 15 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 2158 16 infections infection NNS cord-014712-5u4e00q6 2158 17 as as RB cord-014712-5u4e00q6 2158 18 well well RB cord-014712-5u4e00q6 2158 19 , , , cord-014712-5u4e00q6 2158 20 however however RB cord-014712-5u4e00q6 2158 21 , , , cord-014712-5u4e00q6 2158 22 Common common JJ cord-014712-5u4e00q6 2158 23 variable variable JJ cord-014712-5u4e00q6 2158 24 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 2158 25 ( ( -LRB- cord-014712-5u4e00q6 2158 26 CVID CVID NNP cord-014712-5u4e00q6 2158 27 ) ) -RRB- cord-014712-5u4e00q6 2158 28 mostly mostly RB cord-014712-5u4e00q6 2158 29 characterized characterize VBN cord-014712-5u4e00q6 2158 30 by by IN cord-014712-5u4e00q6 2158 31 a a DT cord-014712-5u4e00q6 2158 32 deficiency deficiency NN cord-014712-5u4e00q6 2158 33 of of IN cord-014712-5u4e00q6 2158 34 immunoglobulins immunoglobulin NNS cord-014712-5u4e00q6 2158 35 and and CC cord-014712-5u4e00q6 2158 36 recurrent recurrent JJ cord-014712-5u4e00q6 2158 37 sinopulmonary sinopulmonary JJ cord-014712-5u4e00q6 2158 38 infections infection NNS cord-014712-5u4e00q6 2158 39 . . . cord-014712-5u4e00q6 2159 1 Method method NN cord-014712-5u4e00q6 2159 2 : : : cord-014712-5u4e00q6 2160 1 We -PRON- PRP cord-014712-5u4e00q6 2160 2 overview overview VBP cord-014712-5u4e00q6 2160 3 the the DT cord-014712-5u4e00q6 2160 4 clinical clinical JJ cord-014712-5u4e00q6 2160 5 rate rate NN cord-014712-5u4e00q6 2160 6 of of IN cord-014712-5u4e00q6 2160 7 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 2160 8 disease disease NN cord-014712-5u4e00q6 2160 9 in in IN cord-014712-5u4e00q6 2160 10 our -PRON- PRP$ cord-014712-5u4e00q6 2160 11 PID pid NN cord-014712-5u4e00q6 2160 12 cases case NNS cord-014712-5u4e00q6 2160 13 and and CC cord-014712-5u4e00q6 2160 14 evaluate evaluate VB cord-014712-5u4e00q6 2160 15 the the DT cord-014712-5u4e00q6 2160 16 complex complex JJ cord-014712-5u4e00q6 2160 17 cases case NNS cord-014712-5u4e00q6 2160 18 . . . cord-014712-5u4e00q6 2161 1 Results result NNS cord-014712-5u4e00q6 2161 2 : : : cord-014712-5u4e00q6 2162 1 Two two CD cord-014712-5u4e00q6 2162 2 hundred hundred CD cord-014712-5u4e00q6 2162 3 PID pid NN cord-014712-5u4e00q6 2162 4 cases case NNS cord-014712-5u4e00q6 2162 5 were be VBD cord-014712-5u4e00q6 2162 6 evaluate evaluate VBN cord-014712-5u4e00q6 2162 7 between between IN cord-014712-5u4e00q6 2162 8 1996 1996 CD cord-014712-5u4e00q6 2162 9 - - SYM cord-014712-5u4e00q6 2162 10 2013 2013 CD cord-014712-5u4e00q6 2162 11 in in IN cord-014712-5u4e00q6 2162 12 our -PRON- PRP$ cord-014712-5u4e00q6 2162 13 clinic clinic NN cord-014712-5u4e00q6 2162 14 , , , cord-014712-5u4e00q6 2162 15 Among among IN cord-014712-5u4e00q6 2162 16 5 5 CD cord-014712-5u4e00q6 2162 17 % % NN cord-014712-5u4e00q6 2162 18 of of IN cord-014712-5u4e00q6 2162 19 them -PRON- PRP cord-014712-5u4e00q6 2162 20 which which WDT cord-014712-5u4e00q6 2162 21 diagnosed diagnose VBD cord-014712-5u4e00q6 2162 22 as as IN cord-014712-5u4e00q6 2162 23 MSMD MSMD NNP cord-014712-5u4e00q6 2162 24 nearly nearly RB cord-014712-5u4e00q6 2162 25 all all DT cord-014712-5u4e00q6 2162 26 presented present VBN cord-014712-5u4e00q6 2162 27 with with IN cord-014712-5u4e00q6 2162 28 mycobacterial mycobacterial NNP cord-014712-5u4e00q6 2162 29 infection.8 infection.8 NNP cord-014712-5u4e00q6 2162 30 % % NN cord-014712-5u4e00q6 2162 31 diagnosed diagnose VBN cord-014712-5u4e00q6 2162 32 as as IN cord-014712-5u4e00q6 2162 33 CGD CGD NNP cord-014712-5u4e00q6 2162 34 and and CC cord-014712-5u4e00q6 2163 1 interestingly interestingly RB cord-014712-5u4e00q6 2163 2 60 60 CD cord-014712-5u4e00q6 2163 3 % % NN cord-014712-5u4e00q6 2163 4 of of IN cord-014712-5u4e00q6 2163 5 them -PRON- PRP cord-014712-5u4e00q6 2163 6 have have VBP cord-014712-5u4e00q6 2163 7 been be VBN cord-014712-5u4e00q6 2163 8 experienced experience VBN cord-014712-5u4e00q6 2163 9 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 2163 10 disease disease NN cord-014712-5u4e00q6 2163 11 sometimes sometimes RB cord-014712-5u4e00q6 2163 12 in in IN cord-014712-5u4e00q6 2163 13 their -PRON- PRP$ cord-014712-5u4e00q6 2163 14 life life NN cord-014712-5u4e00q6 2163 15 , , , cord-014712-5u4e00q6 2163 16 as as IN cord-014712-5u4e00q6 2163 17 disseminated disseminate VBN cord-014712-5u4e00q6 2163 18 BCG BCG NNP cord-014712-5u4e00q6 2163 19 or or CC cord-014712-5u4e00q6 2163 20 late late JJ cord-014712-5u4e00q6 2163 21 onset onset NN cord-014712-5u4e00q6 2163 22 complications complication NNS cord-014712-5u4e00q6 2163 23 of of IN cord-014712-5u4e00q6 2163 24 BCG BCG NNP cord-014712-5u4e00q6 2163 25 including include VBG cord-014712-5u4e00q6 2163 26 osteomyelitis osteomyelitis NN cord-014712-5u4e00q6 2163 27 or or CC cord-014712-5u4e00q6 2163 28 MTB MTB NNP cord-014712-5u4e00q6 2163 29 once once RB cord-014712-5u4e00q6 2163 30 or or CC cord-014712-5u4e00q6 2163 31 more more JJR cord-014712-5u4e00q6 2163 32 than than IN cord-014712-5u4e00q6 2163 33 one one CD cord-014712-5u4e00q6 2163 34 episode episode NN cord-014712-5u4e00q6 2163 35 through through IN cord-014712-5u4e00q6 2163 36 their -PRON- PRP$ cord-014712-5u4e00q6 2163 37 life life NN cord-014712-5u4e00q6 2163 38 . . . cord-014712-5u4e00q6 2164 1 Also also RB cord-014712-5u4e00q6 2164 2 we -PRON- PRP cord-014712-5u4e00q6 2164 3 have have VBP cord-014712-5u4e00q6 2164 4 presented present VBN cord-014712-5u4e00q6 2164 5 a a DT cord-014712-5u4e00q6 2164 6 CVID CVID NNP cord-014712-5u4e00q6 2164 7 patient patient NN cord-014712-5u4e00q6 2164 8 with with IN cord-014712-5u4e00q6 2164 9 disseminated disseminate VBN cord-014712-5u4e00q6 2164 10 TB TB NNP cord-014712-5u4e00q6 2164 11 and and CC cord-014712-5u4e00q6 2164 12 granulomatouse granulomatouse NNP cord-014712-5u4e00q6 2164 13 hepatitis hepatitis NNP cord-014712-5u4e00q6 2164 14 , , , cord-014712-5u4e00q6 2164 15 TB TB NNP cord-014712-5u4e00q6 2164 16 arthritis arthritis NN cord-014712-5u4e00q6 2164 17 , , , cord-014712-5u4e00q6 2164 18 peritonitis peritonitis NN cord-014712-5u4e00q6 2164 19 and and CC cord-014712-5u4e00q6 2164 20 a a DT cord-014712-5u4e00q6 2164 21 patient patient NN cord-014712-5u4e00q6 2164 22 with with IN cord-014712-5u4e00q6 2164 23 LAD LAD NNP cord-014712-5u4e00q6 2164 24 and and CC cord-014712-5u4e00q6 2164 25 nontubercolouse nontubercolouse NNP cord-014712-5u4e00q6 2164 26 mycobacterial mycobacterial NNP cord-014712-5u4e00q6 2164 27 infectiouse infectiouse NNP cord-014712-5u4e00q6 2164 28 abcesses abcesse NNS cord-014712-5u4e00q6 2164 29 of of IN cord-014712-5u4e00q6 2164 30 her -PRON- PRP$ cord-014712-5u4e00q6 2164 31 skin skin NN cord-014712-5u4e00q6 2164 32 . . . cord-014712-5u4e00q6 2165 1 Conclusion conclusion NN cord-014712-5u4e00q6 2165 2 : : : cord-014712-5u4e00q6 2165 3 PID pid NN cord-014712-5u4e00q6 2165 4 cases case NNS cord-014712-5u4e00q6 2165 5 Like like IN cord-014712-5u4e00q6 2165 6 CGD CGD NNP cord-014712-5u4e00q6 2165 7 , , , cord-014712-5u4e00q6 2165 8 MSMD MSMD NNP cord-014712-5u4e00q6 2165 9 or or CC cord-014712-5u4e00q6 2165 10 CVID CVID NNP cord-014712-5u4e00q6 2165 11 which which WDT cord-014712-5u4e00q6 2165 12 are be VBP cord-014712-5u4e00q6 2165 13 living live VBG cord-014712-5u4e00q6 2165 14 in in IN cord-014712-5u4e00q6 2165 15 area area NN cord-014712-5u4e00q6 2165 16 's 's POS cord-014712-5u4e00q6 2165 17 with with IN cord-014712-5u4e00q6 2165 18 high high JJ cord-014712-5u4e00q6 2165 19 prevalence prevalence NN cord-014712-5u4e00q6 2165 20 of of IN cord-014712-5u4e00q6 2165 21 mycobacterial mycobacterial JJ cord-014712-5u4e00q6 2165 22 infection infection NN cord-014712-5u4e00q6 2165 23 could could MD cord-014712-5u4e00q6 2165 24 have have VB cord-014712-5u4e00q6 2165 25 quiet quiet JJ cord-014712-5u4e00q6 2165 26 different different JJ cord-014712-5u4e00q6 2165 27 presentations presentation NNS cord-014712-5u4e00q6 2165 28 and and CC cord-014712-5u4e00q6 2165 29 the the DT cord-014712-5u4e00q6 2165 30 study study NN cord-014712-5u4e00q6 2165 31 of of IN cord-014712-5u4e00q6 2165 32 these these DT cord-014712-5u4e00q6 2165 33 complex complex JJ cord-014712-5u4e00q6 2165 34 cases case NNS cord-014712-5u4e00q6 2165 35 has have VBZ cord-014712-5u4e00q6 2165 36 provided provide VBN cord-014712-5u4e00q6 2165 37 essential essential JJ cord-014712-5u4e00q6 2165 38 insights insight NNS cord-014712-5u4e00q6 2165 39 into into IN cord-014712-5u4e00q6 2165 40 the the DT cord-014712-5u4e00q6 2165 41 functioning functioning NN cord-014712-5u4e00q6 2165 42 of of IN cord-014712-5u4e00q6 2165 43 the the DT cord-014712-5u4e00q6 2165 44 immune immune JJ cord-014712-5u4e00q6 2165 45 system system NN cord-014712-5u4e00q6 2165 46 . . . cord-014712-5u4e00q6 2166 1 Despite despite IN cord-014712-5u4e00q6 2166 2 the the DT cord-014712-5u4e00q6 2166 3 conventional conventional JJ cord-014712-5u4e00q6 2166 4 view view NN cord-014712-5u4e00q6 2166 5 we -PRON- PRP cord-014712-5u4e00q6 2166 6 have have VBP cord-014712-5u4e00q6 2166 7 confirmed confirm VBN cord-014712-5u4e00q6 2166 8 that that IN cord-014712-5u4e00q6 2166 9 the the DT cord-014712-5u4e00q6 2166 10 generation generation NN cord-014712-5u4e00q6 2166 11 of of IN cord-014712-5u4e00q6 2166 12 ROIS ROIS NNP cord-014712-5u4e00q6 2166 13 by by IN cord-014712-5u4e00q6 2166 14 phagocytic phagocytic JJ cord-014712-5u4e00q6 2166 15 respiratory respiratory JJ cord-014712-5u4e00q6 2166 16 burst burst NN cord-014712-5u4e00q6 2166 17 may may MD cord-014712-5u4e00q6 2166 18 play play VB cord-014712-5u4e00q6 2166 19 a a DT cord-014712-5u4e00q6 2166 20 role role NN cord-014712-5u4e00q6 2166 21 in in IN cord-014712-5u4e00q6 2166 22 the the DT cord-014712-5u4e00q6 2166 23 defense defense NN cord-014712-5u4e00q6 2166 24 of of IN cord-014712-5u4e00q6 2166 25 the the DT cord-014712-5u4e00q6 2166 26 host host NN cord-014712-5u4e00q6 2166 27 against against IN cord-014712-5u4e00q6 2166 28 M. M. NNP cord-014712-5u4e00q6 2166 29 tuberculosis tuberculosis NN cord-014712-5u4e00q6 2166 30 by by IN cord-014712-5u4e00q6 2166 31 clinical clinical JJ cord-014712-5u4e00q6 2166 32 evidence evidence NN cord-014712-5u4e00q6 2166 33 . . . cord-014712-5u4e00q6 2167 1 Goran Goran NNP cord-014712-5u4e00q6 2167 2 Ristic Ristic NNP cord-014712-5u4e00q6 2167 3 , , , cord-014712-5u4e00q6 2167 4 Srdjan Srdjan NNP cord-014712-5u4e00q6 2167 5 Pasic Pasic NNP cord-014712-5u4e00q6 2167 6 , , , cord-014712-5u4e00q6 2167 7 Bojana Bojana NNP cord-014712-5u4e00q6 2167 8 Slavkovic Slavkovic NNP cord-014712-5u4e00q6 2167 9 Division Division NNP cord-014712-5u4e00q6 2167 10 of of IN cord-014712-5u4e00q6 2167 11 Clinical Clinical NNP cord-014712-5u4e00q6 2167 12 Immunology Immunology NNP cord-014712-5u4e00q6 2167 13 , , , cord-014712-5u4e00q6 2167 14 Mother Mother NNP cord-014712-5u4e00q6 2167 15 and and CC cord-014712-5u4e00q6 2167 16 Child Child NNP cord-014712-5u4e00q6 2167 17 Health Health NNP cord-014712-5u4e00q6 2167 18 Care Care NNP cord-014712-5u4e00q6 2167 19 Institute Institute NNP cord-014712-5u4e00q6 2167 20 of of IN cord-014712-5u4e00q6 2167 21 Serbia Serbia NNP cord-014712-5u4e00q6 2167 22 , , , cord-014712-5u4e00q6 2167 23 Belgrade Belgrade NNP cord-014712-5u4e00q6 2167 24 Chronic Chronic NNP cord-014712-5u4e00q6 2167 25 granulomatous granulomatous JJ cord-014712-5u4e00q6 2167 26 disease disease NN cord-014712-5u4e00q6 2167 27 ( ( -LRB- cord-014712-5u4e00q6 2167 28 CGD CGD NNP cord-014712-5u4e00q6 2167 29 ) ) -RRB- cord-014712-5u4e00q6 2167 30 is be VBZ cord-014712-5u4e00q6 2167 31 a a DT cord-014712-5u4e00q6 2167 32 rare rare JJ cord-014712-5u4e00q6 2167 33 disease disease NN cord-014712-5u4e00q6 2167 34 caused cause VBN cord-014712-5u4e00q6 2167 35 by by IN cord-014712-5u4e00q6 2167 36 mutation mutation NN cord-014712-5u4e00q6 2167 37 in in IN cord-014712-5u4e00q6 2167 38 any any DT cord-014712-5u4e00q6 2167 39 of of IN cord-014712-5u4e00q6 2167 40 the the DT cord-014712-5u4e00q6 2167 41 five five CD cord-014712-5u4e00q6 2167 42 components component NNS cord-014712-5u4e00q6 2167 43 of of IN cord-014712-5u4e00q6 2167 44 the the DT cord-014712-5u4e00q6 2167 45 nicotinamide nicotinamide NN cord-014712-5u4e00q6 2167 46 adenine adenine NN cord-014712-5u4e00q6 2167 47 dinucleotide dinucleotide NN cord-014712-5u4e00q6 2167 48 phosphate phosphate NN cord-014712-5u4e00q6 2167 49 ( ( -LRB- cord-014712-5u4e00q6 2167 50 NADPH NADPH NNP cord-014712-5u4e00q6 2167 51 ) ) -RRB- cord-014712-5u4e00q6 2167 52 oxidase oxidase NN cord-014712-5u4e00q6 2167 53 in in IN cord-014712-5u4e00q6 2167 54 phagocytes phagocyte NNS cord-014712-5u4e00q6 2167 55 , , , cord-014712-5u4e00q6 2167 56 resulting result VBG cord-014712-5u4e00q6 2167 57 in in IN cord-014712-5u4e00q6 2167 58 recurrent recurrent JJ cord-014712-5u4e00q6 2167 59 , , , cord-014712-5u4e00q6 2167 60 life life NN cord-014712-5u4e00q6 2167 61 - - HYPH cord-014712-5u4e00q6 2167 62 threatening threaten VBG cord-014712-5u4e00q6 2167 63 bacterial bacterial JJ cord-014712-5u4e00q6 2167 64 and and CC cord-014712-5u4e00q6 2167 65 fungal fungal JJ cord-014712-5u4e00q6 2167 66 infections infection NNS cord-014712-5u4e00q6 2167 67 of of IN cord-014712-5u4e00q6 2167 68 the the DT cord-014712-5u4e00q6 2167 69 affected affect VBN cord-014712-5u4e00q6 2167 70 individuals individual NNS cord-014712-5u4e00q6 2167 71 . . . cord-014712-5u4e00q6 2168 1 Our -PRON- PRP$ cord-014712-5u4e00q6 2168 2 proband proband NN cord-014712-5u4e00q6 2168 3 male male JJ cord-014712-5u4e00q6 2168 4 patient patient NN cord-014712-5u4e00q6 2168 5 presented present VBN cord-014712-5u4e00q6 2168 6 at at IN cord-014712-5u4e00q6 2168 7 age age NN cord-014712-5u4e00q6 2168 8 of of IN cord-014712-5u4e00q6 2168 9 2 2 CD cord-014712-5u4e00q6 2168 10 years year NNS cord-014712-5u4e00q6 2168 11 with with IN cord-014712-5u4e00q6 2168 12 bilateral bilateral JJ cord-014712-5u4e00q6 2168 13 pneumonia pneumonia NN cord-014712-5u4e00q6 2168 14 and and CC cord-014712-5u4e00q6 2168 15 positive positive JJ cord-014712-5u4e00q6 2168 16 serology serology NN cord-014712-5u4e00q6 2168 17 for for IN cord-014712-5u4e00q6 2168 18 Aspergillus aspergillus NN cord-014712-5u4e00q6 2168 19 sp sp NN cord-014712-5u4e00q6 2168 20 . . . cord-014712-5u4e00q6 2169 1 The the DT cord-014712-5u4e00q6 2169 2 phorbol phorbol NNP cord-014712-5u4e00q6 2169 3 myristate myristate NNP cord-014712-5u4e00q6 2169 4 acetate acetate NNP cord-014712-5u4e00q6 2169 5 ( ( -LRB- cord-014712-5u4e00q6 2169 6 PMA PMA NNP cord-014712-5u4e00q6 2169 7 ) ) -RRB- cord-014712-5u4e00q6 2169 8 stimulated stimulate VBD cord-014712-5u4e00q6 2169 9 nitroblue nitroblue NNP cord-014712-5u4e00q6 2169 10 tetrazolium tetrazolium NNP cord-014712-5u4e00q6 2170 1 ( ( -LRB- cord-014712-5u4e00q6 2170 2 NBT NBT NNP cord-014712-5u4e00q6 2170 3 ) ) -RRB- cord-014712-5u4e00q6 2170 4 test test NN cord-014712-5u4e00q6 2170 5 showed show VBD cord-014712-5u4e00q6 2170 6 no no DT cord-014712-5u4e00q6 2170 7 reduction reduction NN cord-014712-5u4e00q6 2170 8 ( ( -LRB- cord-014712-5u4e00q6 2170 9 0 0 CD cord-014712-5u4e00q6 2170 10 % % NN cord-014712-5u4e00q6 2170 11 ) ) -RRB- cord-014712-5u4e00q6 2170 12 in in IN cord-014712-5u4e00q6 2170 13 our -PRON- PRP$ cord-014712-5u4e00q6 2170 14 patient patient JJ cord-014712-5u4e00q6 2170 15 and and CC cord-014712-5u4e00q6 2170 16 partial partial JJ cord-014712-5u4e00q6 2170 17 reduction reduction NN cord-014712-5u4e00q6 2170 18 ( ( -LRB- cord-014712-5u4e00q6 2170 19 58 58 CD cord-014712-5u4e00q6 2170 20 % % NN cord-014712-5u4e00q6 2170 21 ) ) -RRB- cord-014712-5u4e00q6 2170 22 in in IN cord-014712-5u4e00q6 2170 23 his -PRON- PRP$ cord-014712-5u4e00q6 2170 24 mother mother NN cord-014712-5u4e00q6 2170 25 . . . cord-014712-5u4e00q6 2171 1 Analysis analysis NN cord-014712-5u4e00q6 2171 2 of of IN cord-014712-5u4e00q6 2171 3 the the DT cord-014712-5u4e00q6 2171 4 CYBB CYBB NNP cord-014712-5u4e00q6 2171 5 gene gene NN cord-014712-5u4e00q6 2171 6 showed show VBD cord-014712-5u4e00q6 2171 7 a a DT cord-014712-5u4e00q6 2171 8 deletion deletion NN cord-014712-5u4e00q6 2171 9 of of IN cord-014712-5u4e00q6 2171 10 nucleotide nucleotide JJ cord-014712-5u4e00q6 2171 11 G g NN cord-014712-5u4e00q6 2171 12 ( ( -LRB- cord-014712-5u4e00q6 2171 13 c.1237delG c.1237delG NNP cord-014712-5u4e00q6 2171 14 ) ) -RRB- cord-014712-5u4e00q6 2171 15 exon exon NN cord-014712-5u4e00q6 2171 16 10 10 CD cord-014712-5u4e00q6 2171 17 causing cause VBG cord-014712-5u4e00q6 2171 18 frame frame NN cord-014712-5u4e00q6 2171 19 shift shift NN cord-014712-5u4e00q6 2171 20 mutation mutation NN cord-014712-5u4e00q6 2171 21 and and CC cord-014712-5u4e00q6 2171 22 early early JJ cord-014712-5u4e00q6 2171 23 termination termination NN cord-014712-5u4e00q6 2171 24 of of IN cord-014712-5u4e00q6 2171 25 translation translation NN cord-014712-5u4e00q6 2171 26 ( ( -LRB- cord-014712-5u4e00q6 2171 27 p p NN cord-014712-5u4e00q6 2171 28 . . . cord-014712-5u4e00q6 2171 29 Val413Serfs Val413Serfs NNP cord-014712-5u4e00q6 2171 30 ) ) -RRB- cord-014712-5u4e00q6 2171 31 . . . cord-014712-5u4e00q6 2172 1 This this DT cord-014712-5u4e00q6 2172 2 mutation mutation NN cord-014712-5u4e00q6 2172 3 was be VBD cord-014712-5u4e00q6 2172 4 not not RB cord-014712-5u4e00q6 2172 5 previously previously RB cord-014712-5u4e00q6 2172 6 described describe VBN cord-014712-5u4e00q6 2172 7 . . . cord-014712-5u4e00q6 2173 1 At at IN cord-014712-5u4e00q6 2173 2 the the DT cord-014712-5u4e00q6 2173 3 moment moment NN cord-014712-5u4e00q6 2173 4 of of IN cord-014712-5u4e00q6 2173 5 diagnosis diagnosis NN cord-014712-5u4e00q6 2173 6 , , , cord-014712-5u4e00q6 2173 7 his -PRON- PRP$ cord-014712-5u4e00q6 2173 8 mother mother NN cord-014712-5u4e00q6 2173 9 was be VBD cord-014712-5u4e00q6 2173 10 already already RB cord-014712-5u4e00q6 2173 11 pregnant pregnant JJ cord-014712-5u4e00q6 2173 12 , , , cord-014712-5u4e00q6 2173 13 19 19 CD cord-014712-5u4e00q6 2173 14 th th CD cord-014712-5u4e00q6 2173 15 week week NN cord-014712-5u4e00q6 2173 16 of of IN cord-014712-5u4e00q6 2173 17 gestation gestation NN cord-014712-5u4e00q6 2173 18 . . . cord-014712-5u4e00q6 2174 1 Fetal fetal JJ cord-014712-5u4e00q6 2174 2 ultrasound ultrasound NN cord-014712-5u4e00q6 2174 3 showed show VBD cord-014712-5u4e00q6 2174 4 that that IN cord-014712-5u4e00q6 2174 5 she -PRON- PRP cord-014712-5u4e00q6 2174 6 was be VBD cord-014712-5u4e00q6 2174 7 carrying carry VBG cord-014712-5u4e00q6 2174 8 a a DT cord-014712-5u4e00q6 2174 9 male male JJ cord-014712-5u4e00q6 2174 10 fetus fetus NN cord-014712-5u4e00q6 2174 11 . . . cord-014712-5u4e00q6 2175 1 The the DT cord-014712-5u4e00q6 2175 2 fetal fetal JJ cord-014712-5u4e00q6 2175 3 blood blood NN cord-014712-5u4e00q6 2175 4 sample sample NN cord-014712-5u4e00q6 2175 5 , , , cord-014712-5u4e00q6 2175 6 obtained obtain VBN cord-014712-5u4e00q6 2175 7 by by IN cord-014712-5u4e00q6 2175 8 the the DT cord-014712-5u4e00q6 2175 9 percutaneous percutaneous JJ cord-014712-5u4e00q6 2175 10 umbilical umbilical JJ cord-014712-5u4e00q6 2175 11 cord cord NN cord-014712-5u4e00q6 2175 12 blood blood NN cord-014712-5u4e00q6 2175 13 sampling sampling NN cord-014712-5u4e00q6 2175 14 , , , cord-014712-5u4e00q6 2175 15 showed show VBD cord-014712-5u4e00q6 2175 16 male male JJ cord-014712-5u4e00q6 2175 17 karyotype karyotype NN cord-014712-5u4e00q6 2175 18 and and CC cord-014712-5u4e00q6 2175 19 the the DT cord-014712-5u4e00q6 2175 20 PMA PMA NNP cord-014712-5u4e00q6 2175 21 stimulated stimulate VBD cord-014712-5u4e00q6 2175 22 NBT NBT NNP cord-014712-5u4e00q6 2175 23 test test NN cord-014712-5u4e00q6 2175 24 showed show VBD cord-014712-5u4e00q6 2175 25 100 100 CD cord-014712-5u4e00q6 2175 26 % % NN cord-014712-5u4e00q6 2175 27 reduction reduction NN cord-014712-5u4e00q6 2175 28 . . . cord-014712-5u4e00q6 2176 1 There there EX cord-014712-5u4e00q6 2176 2 were be VBD cord-014712-5u4e00q6 2176 3 no no DT cord-014712-5u4e00q6 2176 4 complication complication NN cord-014712-5u4e00q6 2176 5 during during IN cord-014712-5u4e00q6 2176 6 pregnancy pregnancy NN cord-014712-5u4e00q6 2176 7 or or CC cord-014712-5u4e00q6 2176 8 delivery delivery NN cord-014712-5u4e00q6 2176 9 and and CC cord-014712-5u4e00q6 2176 10 a a DT cord-014712-5u4e00q6 2176 11 healthy healthy JJ cord-014712-5u4e00q6 2176 12 boy boy NN cord-014712-5u4e00q6 2176 13 was be VBD cord-014712-5u4e00q6 2176 14 born bear VBN cord-014712-5u4e00q6 2176 15 . . . cord-014712-5u4e00q6 2177 1 The the DT cord-014712-5u4e00q6 2177 2 proband proband JJ cord-014712-5u4e00q6 2177 3 patient patient NN cord-014712-5u4e00q6 2177 4 underwent undergo VBD cord-014712-5u4e00q6 2177 5 allogenic allogenic JJ cord-014712-5u4e00q6 2177 6 HSCT HSCT NNP cord-014712-5u4e00q6 2177 7 , , , cord-014712-5u4e00q6 2177 8 his -PRON- PRP$ cord-014712-5u4e00q6 2177 9 sister sister NN cord-014712-5u4e00q6 2177 10 was be VBD cord-014712-5u4e00q6 2177 11 the the DT cord-014712-5u4e00q6 2177 12 identical identical JJ cord-014712-5u4e00q6 2177 13 sibling sibling NN cord-014712-5u4e00q6 2177 14 donor donor NN cord-014712-5u4e00q6 2177 15 . . . cord-014712-5u4e00q6 2178 1 In in IN cord-014712-5u4e00q6 2178 2 the the DT cord-014712-5u4e00q6 2178 3 cases case NNS cord-014712-5u4e00q6 2178 4 where where WRB cord-014712-5u4e00q6 2178 5 the the DT cord-014712-5u4e00q6 2178 6 family family NN cord-014712-5u4e00q6 2178 7 - - HYPH cord-014712-5u4e00q6 2178 8 specific specific JJ cord-014712-5u4e00q6 2178 9 mutations mutation NNS cord-014712-5u4e00q6 2178 10 are be VBP cord-014712-5u4e00q6 2178 11 unknown unknown JJ cord-014712-5u4e00q6 2178 12 , , , cord-014712-5u4e00q6 2178 13 partial partial JJ cord-014712-5u4e00q6 2178 14 or or CC cord-014712-5u4e00q6 2178 15 complete complete JJ cord-014712-5u4e00q6 2178 16 gene gene NN cord-014712-5u4e00q6 2178 17 deletions deletion NNS cord-014712-5u4e00q6 2178 18 can can MD cord-014712-5u4e00q6 2178 19 be be VB cord-014712-5u4e00q6 2178 20 recognized recognize VBN cord-014712-5u4e00q6 2178 21 by by IN cord-014712-5u4e00q6 2178 22 multiplex multiplex JJ cord-014712-5u4e00q6 2178 23 ligase ligase NN cord-014712-5u4e00q6 2178 24 - - HYPH cord-014712-5u4e00q6 2178 25 dependent dependent JJ cord-014712-5u4e00q6 2178 26 probe probe NN cord-014712-5u4e00q6 2178 27 amplification amplification NN cord-014712-5u4e00q6 2178 28 ( ( -LRB- cord-014712-5u4e00q6 2178 29 MLPA MLPA NNP cord-014712-5u4e00q6 2178 30 ) ) -RRB- cord-014712-5u4e00q6 2178 31 or or CC cord-014712-5u4e00q6 2178 32 array array VB cord-014712-5u4e00q6 2178 33 comparative comparative JJ cord-014712-5u4e00q6 2178 34 genomic genomic JJ cord-014712-5u4e00q6 2178 35 hybridization hybridization NN cord-014712-5u4e00q6 2179 1 ( ( -LRB- cord-014712-5u4e00q6 2179 2 Features feature NNS cord-014712-5u4e00q6 2179 3 of of IN cord-014712-5u4e00q6 2179 4 the the DT cord-014712-5u4e00q6 2179 5 patients patient NNS cord-014712-5u4e00q6 2179 6 with with IN cord-014712-5u4e00q6 2179 7 AR AR NNP cord-014712-5u4e00q6 2179 8 - - HYPH cord-014712-5u4e00q6 2179 9 HIES HIES NNP cord-014712-5u4e00q6 2180 1 Dock-8 Dock-8 NNP cord-014712-5u4e00q6 2180 2 Deficient Deficient NNP cord-014712-5u4e00q6 2180 3 and and CC cord-014712-5u4e00q6 2180 4 non non JJ cord-014712-5u4e00q6 2180 5 - - JJ cord-014712-5u4e00q6 2180 6 Dock-8 dock-8 JJ cord-014712-5u4e00q6 2180 7 deficient deficient JJ cord-014712-5u4e00q6 2180 8 group group NN cord-014712-5u4e00q6 2180 9 are be VBP cord-014712-5u4e00q6 2180 10 given give VBN cord-014712-5u4e00q6 2180 11 in in IN cord-014712-5u4e00q6 2180 12 the the DT cord-014712-5u4e00q6 2180 13 Table Table NNP cord-014712-5u4e00q6 2180 14 1 1 CD cord-014712-5u4e00q6 2180 15 . . . cord-014712-5u4e00q6 2181 1 All all DT cord-014712-5u4e00q6 2181 2 patients patient NNS cord-014712-5u4e00q6 2181 3 with with IN cord-014712-5u4e00q6 2181 4 Dock-8 dock-8 JJ cord-014712-5u4e00q6 2181 5 deficiency deficiency NN cord-014712-5u4e00q6 2181 6 presented present VBN cord-014712-5u4e00q6 2181 7 with with IN cord-014712-5u4e00q6 2181 8 cutaneous cutaneous JJ cord-014712-5u4e00q6 2181 9 viral viral JJ cord-014712-5u4e00q6 2181 10 infections infection NNS cord-014712-5u4e00q6 2181 11 or or CC cord-014712-5u4e00q6 2181 12 early early JJ cord-014712-5u4e00q6 2181 13 onset onset NN cord-014712-5u4e00q6 2181 14 and and CC cord-014712-5u4e00q6 2181 15 severe severe JJ cord-014712-5u4e00q6 2181 16 atopic atopic JJ cord-014712-5u4e00q6 2181 17 dermatitis dermatitis NN cord-014712-5u4e00q6 2181 18 . . . cord-014712-5u4e00q6 2182 1 Many many JJ cord-014712-5u4e00q6 2182 2 have have VBP cord-014712-5u4e00q6 2182 3 also also RB cord-014712-5u4e00q6 2182 4 food food NN cord-014712-5u4e00q6 2182 5 allergy allergy NN cord-014712-5u4e00q6 2182 6 and/or and/or CC cord-014712-5u4e00q6 2182 7 asthma asthma NN cord-014712-5u4e00q6 2182 8 . . . cord-014712-5u4e00q6 2183 1 Neurological neurological JJ cord-014712-5u4e00q6 2183 2 complications complication NNS cord-014712-5u4e00q6 2183 3 and and CC cord-014712-5u4e00q6 2183 4 malignancy malignancy NN cord-014712-5u4e00q6 2183 5 were be VBD cord-014712-5u4e00q6 2183 6 seen see VBN cord-014712-5u4e00q6 2183 7 in in IN cord-014712-5u4e00q6 2183 8 20 20 CD cord-014712-5u4e00q6 2183 9 % % NN cord-014712-5u4e00q6 2183 10 and and CC cord-014712-5u4e00q6 2183 11 27 27 CD cord-014712-5u4e00q6 2183 12 % % NN cord-014712-5u4e00q6 2183 13 respectively respectively RB cord-014712-5u4e00q6 2183 14 . . . cord-014712-5u4e00q6 2184 1 Sixty sixty CD cord-014712-5u4e00q6 2184 2 seven seven CD cord-014712-5u4e00q6 2184 3 percent percent NN cord-014712-5u4e00q6 2184 4 of of IN cord-014712-5u4e00q6 2184 5 patients patient NNS cord-014712-5u4e00q6 2184 6 had have VBD cord-014712-5u4e00q6 2184 7 low low JJ cord-014712-5u4e00q6 2184 8 T t NN cord-014712-5u4e00q6 2184 9 ; ; : cord-014712-5u4e00q6 2184 10 83 83 CD cord-014712-5u4e00q6 2184 11 % % NN cord-014712-5u4e00q6 2184 12 , , , cord-014712-5u4e00q6 2184 13 low low JJ cord-014712-5u4e00q6 2184 14 CD4 CD4 NNP cord-014712-5u4e00q6 2184 15 levels level NNS cord-014712-5u4e00q6 2184 16 ; ; : cord-014712-5u4e00q6 2184 17 100 100 CD cord-014712-5u4e00q6 2184 18 % % NN cord-014712-5u4e00q6 2184 19 , , , cord-014712-5u4e00q6 2184 20 high high JJ cord-014712-5u4e00q6 2184 21 IgE. ige. NN cord-014712-5u4e00q6 2185 1 The the DT cord-014712-5u4e00q6 2185 2 latter latter JJ cord-014712-5u4e00q6 2185 3 features feature NNS cord-014712-5u4e00q6 2185 4 were be VBD cord-014712-5u4e00q6 2185 5 shared share VBN cord-014712-5u4e00q6 2185 6 between between IN cord-014712-5u4e00q6 2185 7 patients patient NNS cord-014712-5u4e00q6 2185 8 with with IN cord-014712-5u4e00q6 2185 9 or or CC cord-014712-5u4e00q6 2185 10 without without IN cord-014712-5u4e00q6 2185 11 Dock-8 dock-8 JJ cord-014712-5u4e00q6 2185 12 deficiency deficiency NN cord-014712-5u4e00q6 2185 13 , , , cord-014712-5u4e00q6 2185 14 except except IN cord-014712-5u4e00q6 2185 15 atopic atopic JJ cord-014712-5u4e00q6 2185 16 dermatitis dermatitis NN cord-014712-5u4e00q6 2185 17 which which WDT cord-014712-5u4e00q6 2185 18 was be VBD cord-014712-5u4e00q6 2185 19 mild mild JJ cord-014712-5u4e00q6 2185 20 when when WRB cord-014712-5u4e00q6 2185 21 present present JJ cord-014712-5u4e00q6 2185 22 in in IN cord-014712-5u4e00q6 2185 23 patients patient NNS cord-014712-5u4e00q6 2185 24 without without IN cord-014712-5u4e00q6 2185 25 Dock-8 dock-8 JJ cord-014712-5u4e00q6 2185 26 deficiency deficiency NN cord-014712-5u4e00q6 2185 27 and and CC cord-014712-5u4e00q6 2185 28 IgE ige NN cord-014712-5u4e00q6 2185 29 levels level NNS cord-014712-5u4e00q6 2185 30 were be VBD cord-014712-5u4e00q6 2185 31 only only RB cord-014712-5u4e00q6 2185 32 mildly mildly RB cord-014712-5u4e00q6 2185 33 high high JJ cord-014712-5u4e00q6 2185 34 or or CC cord-014712-5u4e00q6 2185 35 normal normal JJ cord-014712-5u4e00q6 2185 36 . . . cord-014712-5u4e00q6 2186 1 We -PRON- PRP cord-014712-5u4e00q6 2186 2 identified identify VBD cord-014712-5u4e00q6 2186 3 STK4 STK4 NNP cord-014712-5u4e00q6 2186 4 and and CC cord-014712-5u4e00q6 2186 5 coronin coronin NNP cord-014712-5u4e00q6 2186 6 1A 1a CD cord-014712-5u4e00q6 2186 7 deficiency deficiency NN cord-014712-5u4e00q6 2186 8 in in IN cord-014712-5u4e00q6 2186 9 two two CD cord-014712-5u4e00q6 2186 10 siblings sibling NNS cord-014712-5u4e00q6 2186 11 each each DT cord-014712-5u4e00q6 2186 12 among among IN cord-014712-5u4e00q6 2186 13 the the DT cord-014712-5u4e00q6 2186 14 11 11 CD cord-014712-5u4e00q6 2186 15 patients patient NNS cord-014712-5u4e00q6 2186 16 who who WP cord-014712-5u4e00q6 2186 17 showed show VBD cord-014712-5u4e00q6 2186 18 overlapping overlap VBG cord-014712-5u4e00q6 2186 19 features feature NNS cord-014712-5u4e00q6 2186 20 with with IN cord-014712-5u4e00q6 2186 21 AR AR NNP cord-014712-5u4e00q6 2186 22 - - HYPH cord-014712-5u4e00q6 2186 23 HIES HIES NNP cord-014712-5u4e00q6 2186 24 and and CC cord-014712-5u4e00q6 2186 25 do do VBP cord-014712-5u4e00q6 2186 26 not not RB cord-014712-5u4e00q6 2186 27 have have VB cord-014712-5u4e00q6 2186 28 Dock-8 dock-8 JJ cord-014712-5u4e00q6 2186 29 deficiency deficiency NN cord-014712-5u4e00q6 2186 30 . . . cord-014712-5u4e00q6 2187 1 Our -PRON- PRP$ cord-014712-5u4e00q6 2187 2 results result NNS cord-014712-5u4e00q6 2187 3 showed show VBD cord-014712-5u4e00q6 2187 4 that that IN cord-014712-5u4e00q6 2187 5 patients patient NNS cord-014712-5u4e00q6 2187 6 with with IN cord-014712-5u4e00q6 2187 7 Dock8 dock8 JJ cord-014712-5u4e00q6 2187 8 deficiency deficiency NN cord-014712-5u4e00q6 2187 9 have have VBP cord-014712-5u4e00q6 2187 10 early early JJ cord-014712-5u4e00q6 2187 11 onset onset NN cord-014712-5u4e00q6 2187 12 and and CC cord-014712-5u4e00q6 2187 13 more more RBR cord-014712-5u4e00q6 2187 14 remarkable remarkable JJ cord-014712-5u4e00q6 2187 15 eczema eczema NN cord-014712-5u4e00q6 2187 16 , , , cord-014712-5u4e00q6 2187 17 food food NN cord-014712-5u4e00q6 2187 18 allergy allergy NN cord-014712-5u4e00q6 2187 19 , , , cord-014712-5u4e00q6 2187 20 asthma asthma NN cord-014712-5u4e00q6 2187 21 , , , cord-014712-5u4e00q6 2187 22 more more RBR cord-014712-5u4e00q6 2187 23 marked marked JJ cord-014712-5u4e00q6 2187 24 eosinophilia eosinophilia NN cord-014712-5u4e00q6 2187 25 , , , cord-014712-5u4e00q6 2187 26 higher high JJR cord-014712-5u4e00q6 2187 27 IgE IgE NNP cord-014712-5u4e00q6 2187 28 , , , cord-014712-5u4e00q6 2187 29 low low JJ cord-014712-5u4e00q6 2187 30 IgM IgM NNP cord-014712-5u4e00q6 2187 31 levels level NNS cord-014712-5u4e00q6 2187 32 and and CC cord-014712-5u4e00q6 2187 33 development development NN cord-014712-5u4e00q6 2187 34 of of IN cord-014712-5u4e00q6 2187 35 malignancy malignancy NN cord-014712-5u4e00q6 2187 36 . . . cord-014712-5u4e00q6 2188 1 These these DT cord-014712-5u4e00q6 2188 2 features feature NNS cord-014712-5u4e00q6 2188 3 may may MD cord-014712-5u4e00q6 2188 4 be be VB cord-014712-5u4e00q6 2188 5 helpful helpful JJ cord-014712-5u4e00q6 2188 6 in in IN cord-014712-5u4e00q6 2188 7 differentiation differentiation NN cord-014712-5u4e00q6 2189 1 Dock8 dock8 JJ cord-014712-5u4e00q6 2189 2 patients patient NNS cord-014712-5u4e00q6 2189 3 from from IN cord-014712-5u4e00q6 2189 4 patients patient NNS cord-014712-5u4e00q6 2189 5 without without IN cord-014712-5u4e00q6 2189 6 Dock-8 dock-8 JJ cord-014712-5u4e00q6 2189 7 deficiency deficiency NN cord-014712-5u4e00q6 2189 8 . . . cord-014712-5u4e00q6 2190 1 It -PRON- PRP cord-014712-5u4e00q6 2190 2 seems seem VBZ cord-014712-5u4e00q6 2190 3 routine routine JJ cord-014712-5u4e00q6 2190 4 lymphocyte lymphocyte NN cord-014712-5u4e00q6 2190 5 subset subset VBN cord-014712-5u4e00q6 2190 6 study study NN cord-014712-5u4e00q6 2190 7 results result NNS cord-014712-5u4e00q6 2190 8 are be VBP cord-014712-5u4e00q6 2190 9 not not RB cord-014712-5u4e00q6 2190 10 helpful helpful JJ cord-014712-5u4e00q6 2190 11 for for IN cord-014712-5u4e00q6 2190 12 this this DT cord-014712-5u4e00q6 2190 13 differentiation differentiation NN cord-014712-5u4e00q6 2190 14 . . . cord-014712-5u4e00q6 2191 1 Alişan Alişan NNP cord-014712-5u4e00q6 2191 2 Yıldıran Yıldıran NNP cord-014712-5u4e00q6 2191 3 1 1 CD cord-014712-5u4e00q6 2191 4 , , , cord-014712-5u4e00q6 2191 5 Stephan Stephan NNP cord-014712-5u4e00q6 2191 6 Borte Borte NNP cord-014712-5u4e00q6 2191 7 2 2 CD cord-014712-5u4e00q6 2191 8 Murat Murat NNP cord-014712-5u4e00q6 2191 9 Elli Elli NNP cord-014712-5u4e00q6 2191 10 1 1 CD cord-014712-5u4e00q6 2191 11 , , , cord-014712-5u4e00q6 2191 12 Tunç Tunç NNP cord-014712-5u4e00q6 2191 13 Fışgın Fışgın NNP cord-014712-5u4e00q6 2192 1 1 1 CD cord-014712-5u4e00q6 2192 2 1 1 CD cord-014712-5u4e00q6 2192 3 Ondokuz Ondokuz NNP cord-014712-5u4e00q6 2192 4 Mayıs Mayıs NNP cord-014712-5u4e00q6 2192 5 University University NNP cord-014712-5u4e00q6 2192 6 , , , cord-014712-5u4e00q6 2192 7 School School NNP cord-014712-5u4e00q6 2192 8 of of IN cord-014712-5u4e00q6 2192 9 Medicine Medicine NNP cord-014712-5u4e00q6 2192 10 , , , cord-014712-5u4e00q6 2192 11 Samsun Samsun NNP cord-014712-5u4e00q6 2192 12 - - HYPH cord-014712-5u4e00q6 2192 13 Turkiye Turkiye NNP cord-014712-5u4e00q6 2192 14 2 2 CD cord-014712-5u4e00q6 2192 15 ImmunoDeficiency ImmunoDeficiency NNP cord-014712-5u4e00q6 2192 16 Center Center NNP cord-014712-5u4e00q6 2192 17 Leipzig Leipzig NNP cord-014712-5u4e00q6 2192 18 ( ( -LRB- cord-014712-5u4e00q6 2192 19 IDCL IDCL NNP cord-014712-5u4e00q6 2192 20 ) ) -RRB- cord-014712-5u4e00q6 2192 21 at at IN cord-014712-5u4e00q6 2192 22 Klinikum Klinikum NNP cord-014712-5u4e00q6 2192 23 St. St. NNP cord-014712-5u4e00q6 2192 24 Georg Georg NNP cord-014712-5u4e00q6 2192 25 gGmbH gGmbH NNP cord-014712-5u4e00q6 2192 26 , , , cord-014712-5u4e00q6 2192 27 Leipzig Leipzig NNP cord-014712-5u4e00q6 2192 28 - - HYPH cord-014712-5u4e00q6 2192 29 Germany Germany NNP cord-014712-5u4e00q6 2192 30 HSCT HSCT NNP cord-014712-5u4e00q6 2192 31 might may MD cord-014712-5u4e00q6 2192 32 be be VB cord-014712-5u4e00q6 2192 33 curative curative JJ cord-014712-5u4e00q6 2192 34 for for IN cord-014712-5u4e00q6 2192 35 some some DT cord-014712-5u4e00q6 2192 36 PIDs pid NNS cord-014712-5u4e00q6 2192 37 . . . cord-014712-5u4e00q6 2193 1 Our -PRON- PRP$ cord-014712-5u4e00q6 2193 2 immunology immunology NN cord-014712-5u4e00q6 2193 3 and and CC cord-014712-5u4e00q6 2193 4 transplantation transplantation NN cord-014712-5u4e00q6 2193 5 center center NN cord-014712-5u4e00q6 2193 6 was be VBD cord-014712-5u4e00q6 2193 7 newly newly RB cord-014712-5u4e00q6 2193 8 established establish VBN cord-014712-5u4e00q6 2193 9 . . . cord-014712-5u4e00q6 2194 1 We -PRON- PRP cord-014712-5u4e00q6 2194 2 retrospectively retrospectively RB cord-014712-5u4e00q6 2194 3 reviewed review VBD cord-014712-5u4e00q6 2194 4 all all DT cord-014712-5u4e00q6 2194 5 children child NNS cord-014712-5u4e00q6 2194 6 with with IN cord-014712-5u4e00q6 2194 7 PID PID NNP cord-014712-5u4e00q6 2194 8 who who WP cord-014712-5u4e00q6 2194 9 diagnosed diagnose VBD cord-014712-5u4e00q6 2194 10 and and CC cord-014712-5u4e00q6 2194 11 received receive VBD cord-014712-5u4e00q6 2194 12 HSCT HSCT NNP cord-014712-5u4e00q6 2194 13 at at IN cord-014712-5u4e00q6 2194 14 Ondokuz Ondokuz NNP cord-014712-5u4e00q6 2194 15 Mayıs Mayıs NNP cord-014712-5u4e00q6 2194 16 University University NNP cord-014712-5u4e00q6 2194 17 or or CC cord-014712-5u4e00q6 2194 18 somewhere somewhere RB cord-014712-5u4e00q6 2194 19 between between IN cord-014712-5u4e00q6 2194 20 June June NNP cord-014712-5u4e00q6 2194 21 2010 2010 CD cord-014712-5u4e00q6 2194 22 and and CC cord-014712-5u4e00q6 2194 23 December December NNP cord-014712-5u4e00q6 2194 24 2013 2013 CD cord-014712-5u4e00q6 2194 25 . . . cord-014712-5u4e00q6 2195 1 Twenty twenty CD cord-014712-5u4e00q6 2195 2 - - HYPH cord-014712-5u4e00q6 2195 3 two two CD cord-014712-5u4e00q6 2195 4 patients patient NNS cord-014712-5u4e00q6 2195 5 were be VBD cord-014712-5u4e00q6 2195 6 identified identify VBN cord-014712-5u4e00q6 2195 7 . . . cord-014712-5u4e00q6 2196 1 Four four CD cord-014712-5u4e00q6 2196 2 of of IN cord-014712-5u4e00q6 2196 3 them -PRON- PRP cord-014712-5u4e00q6 2196 4 were be VBD cord-014712-5u4e00q6 2196 5 referred refer VBN cord-014712-5u4e00q6 2196 6 to to IN cord-014712-5u4e00q6 2196 7 us -PRON- PRP cord-014712-5u4e00q6 2196 8 for for IN cord-014712-5u4e00q6 2196 9 HSCT HSCT NNP cord-014712-5u4e00q6 2196 10 from from IN cord-014712-5u4e00q6 2196 11 other other JJ cord-014712-5u4e00q6 2196 12 centers center NNS cord-014712-5u4e00q6 2196 13 . . . cord-014712-5u4e00q6 2197 1 The the DT cord-014712-5u4e00q6 2197 2 median median JJ cord-014712-5u4e00q6 2197 3 age age NN cord-014712-5u4e00q6 2197 4 was be VBD cord-014712-5u4e00q6 2197 5 6 6 CD cord-014712-5u4e00q6 2197 6 months month NNS cord-014712-5u4e00q6 2197 7 ( ( -LRB- cord-014712-5u4e00q6 2197 8 1 1 CD cord-014712-5u4e00q6 2197 9 month-10 month-10 CD cord-014712-5u4e00q6 2197 10 yr yr NN cord-014712-5u4e00q6 2197 11 ) ) -RRB- cord-014712-5u4e00q6 2197 12 at at IN cord-014712-5u4e00q6 2197 13 HSCT HSCT NNP cord-014712-5u4e00q6 2197 14 . . . cord-014712-5u4e00q6 2198 1 Patients patient NNS cord-014712-5u4e00q6 2198 2 ' ' POS cord-014712-5u4e00q6 2198 3 diagnoses diagnosis NNS cord-014712-5u4e00q6 2198 4 were be VBD cord-014712-5u4e00q6 2198 5 SCID SCID NNP cord-014712-5u4e00q6 2198 6 ( ( -LRB- cord-014712-5u4e00q6 2198 7 n n NN cord-014712-5u4e00q6 2198 8 = = SYM cord-014712-5u4e00q6 2198 9 11 11 CD cord-014712-5u4e00q6 2198 10 ) ) -RRB- cord-014712-5u4e00q6 2198 11 , , , cord-014712-5u4e00q6 2198 12 CHS CHS NNP cord-014712-5u4e00q6 2198 13 ( ( -LRB- cord-014712-5u4e00q6 2198 14 n n NN cord-014712-5u4e00q6 2198 15 = = SYM cord-014712-5u4e00q6 2198 16 2 2 CD cord-014712-5u4e00q6 2198 17 ) ) -RRB- cord-014712-5u4e00q6 2198 18 , , , cord-014712-5u4e00q6 2198 19 Leukocyte Leukocyte NNP cord-014712-5u4e00q6 2198 20 adhesion adhesion NN cord-014712-5u4e00q6 2198 21 deficiency deficiency NN cord-014712-5u4e00q6 2198 22 ( ( -LRB- cord-014712-5u4e00q6 2198 23 n=2 n=2 NNS cord-014712-5u4e00q6 2198 24 ) ) -RRB- cord-014712-5u4e00q6 2198 25 , , , cord-014712-5u4e00q6 2198 26 MHC MHC NNP cord-014712-5u4e00q6 2198 27 Class Class NNP cord-014712-5u4e00q6 2198 28 II II NNP cord-014712-5u4e00q6 2198 29 deficiency deficiency NN cord-014712-5u4e00q6 2198 30 ( ( -LRB- cord-014712-5u4e00q6 2198 31 n=2 n=2 NNS cord-014712-5u4e00q6 2198 32 ) ) -RRB- cord-014712-5u4e00q6 2198 33 , , , cord-014712-5u4e00q6 2198 34 Chronic Chronic NNP cord-014712-5u4e00q6 2198 35 granulomatous granulomatous JJ cord-014712-5u4e00q6 2198 36 syndrome syndrome NN cord-014712-5u4e00q6 2198 37 ( ( -LRB- cord-014712-5u4e00q6 2198 38 n n NN cord-014712-5u4e00q6 2198 39 = = SYM cord-014712-5u4e00q6 2198 40 2 2 CD cord-014712-5u4e00q6 2198 41 ) ) -RRB- cord-014712-5u4e00q6 2198 42 , , , cord-014712-5u4e00q6 2198 43 HLH HLH NNP cord-014712-5u4e00q6 2198 44 ( ( -LRB- cord-014712-5u4e00q6 2198 45 n n NN cord-014712-5u4e00q6 2198 46 = = SYM cord-014712-5u4e00q6 2198 47 1 1 CD cord-014712-5u4e00q6 2198 48 ) ) -RRB- cord-014712-5u4e00q6 2198 49 , , , cord-014712-5u4e00q6 2198 50 WAS be VBD cord-014712-5u4e00q6 2198 51 ( ( -LRB- cord-014712-5u4e00q6 2198 52 n n NN cord-014712-5u4e00q6 2198 53 = = SYM cord-014712-5u4e00q6 2198 54 1 1 CD cord-014712-5u4e00q6 2198 55 ) ) -RRB- cord-014712-5u4e00q6 2198 56 and and CC cord-014712-5u4e00q6 2198 57 Omenn Omenn NNP cord-014712-5u4e00q6 2198 58 's 's POS cord-014712-5u4e00q6 2198 59 syndrome syndrome NN cord-014712-5u4e00q6 2198 60 ( ( -LRB- cord-014712-5u4e00q6 2198 61 n n NN cord-014712-5u4e00q6 2198 62 = = SYM cord-014712-5u4e00q6 2198 63 1 1 CD cord-014712-5u4e00q6 2198 64 ) ) -RRB- cord-014712-5u4e00q6 2198 65 . . . cord-014712-5u4e00q6 2199 1 Seven seven CD cord-014712-5u4e00q6 2199 2 patients patient NNS cord-014712-5u4e00q6 2199 3 received receive VBD cord-014712-5u4e00q6 2199 4 HLA HLA NNP cord-014712-5u4e00q6 2199 5 - - HYPH cord-014712-5u4e00q6 2199 6 matched match VBN cord-014712-5u4e00q6 2199 7 related relate VBN cord-014712-5u4e00q6 2199 8 HSCT HSCT NNP cord-014712-5u4e00q6 2199 9 ; ; : cord-014712-5u4e00q6 2199 10 twelve twelve CD cord-014712-5u4e00q6 2199 11 haploidentical haploidentical JJ cord-014712-5u4e00q6 2199 12 HSCT HSCT NNP cord-014712-5u4e00q6 2199 13 and and CC cord-014712-5u4e00q6 2199 14 two two CD cord-014712-5u4e00q6 2199 15 matched match VBD cord-014712-5u4e00q6 2199 16 unrelated unrelated JJ cord-014712-5u4e00q6 2199 17 HSCT HSCT NNP cord-014712-5u4e00q6 2199 18 . . . cord-014712-5u4e00q6 2200 1 One one CD cord-014712-5u4e00q6 2200 2 SCID SCID NNP cord-014712-5u4e00q6 2200 3 patient patient NN cord-014712-5u4e00q6 2200 4 died die VBD cord-014712-5u4e00q6 2200 5 just just RB cord-014712-5u4e00q6 2200 6 after after IN cord-014712-5u4e00q6 2200 7 her -PRON- PRP$ cord-014712-5u4e00q6 2200 8 diagnosis diagnosis NN cord-014712-5u4e00q6 2200 9 . . . cord-014712-5u4e00q6 2201 1 Two two CD cord-014712-5u4e00q6 2201 2 patients patient NNS cord-014712-5u4e00q6 2201 3 developed develop VBD cord-014712-5u4e00q6 2201 4 BCGosis BCGosis NNP cord-014712-5u4e00q6 2201 5 secondary secondary JJ cord-014712-5u4e00q6 2201 6 to to IN cord-014712-5u4e00q6 2201 7 reactivation reactivation NN cord-014712-5u4e00q6 2201 8 of of IN cord-014712-5u4e00q6 2201 9 pretransplant pretransplant JJ cord-014712-5u4e00q6 2201 10 vaccination vaccination NN cord-014712-5u4e00q6 2201 11 . . . cord-014712-5u4e00q6 2202 1 One one CD cord-014712-5u4e00q6 2202 2 of of IN cord-014712-5u4e00q6 2202 3 them -PRON- PRP cord-014712-5u4e00q6 2202 4 died die VBD cord-014712-5u4e00q6 2202 5 due due IN cord-014712-5u4e00q6 2202 6 to to IN cord-014712-5u4e00q6 2202 7 hemophagocytic hemophagocytic JJ cord-014712-5u4e00q6 2202 8 bone bone NN cord-014712-5u4e00q6 2202 9 marrow marrow NN cord-014712-5u4e00q6 2202 10 aplasia aplasia NNP cord-014712-5u4e00q6 2202 11 , , , cord-014712-5u4e00q6 2202 12 and and CC cord-014712-5u4e00q6 2202 13 the the DT cord-014712-5u4e00q6 2202 14 other other JJ cord-014712-5u4e00q6 2202 15 has have VBZ cord-014712-5u4e00q6 2202 16 recovered recover VBN cord-014712-5u4e00q6 2202 17 . . . cord-014712-5u4e00q6 2203 1 Five five CD cord-014712-5u4e00q6 2203 2 patients patient NNS cord-014712-5u4e00q6 2203 3 had have VBD cord-014712-5u4e00q6 2203 4 graft graft NN cord-014712-5u4e00q6 2203 5 failure failure NN cord-014712-5u4e00q6 2203 6 ; ; : cord-014712-5u4e00q6 2203 7 two two CD cord-014712-5u4e00q6 2203 8 of of IN cord-014712-5u4e00q6 2203 9 them -PRON- PRP cord-014712-5u4e00q6 2203 10 received receive VBD cord-014712-5u4e00q6 2203 11 no no DT cord-014712-5u4e00q6 2203 12 conditioning conditioning NN cord-014712-5u4e00q6 2203 13 regimens regimen NNS cord-014712-5u4e00q6 2203 14 because because IN cord-014712-5u4e00q6 2203 15 of of IN cord-014712-5u4e00q6 2203 16 general general JJ cord-014712-5u4e00q6 2203 17 health health NN cord-014712-5u4e00q6 2203 18 status status NN cord-014712-5u4e00q6 2203 19 and and CC cord-014712-5u4e00q6 2203 20 the the DT cord-014712-5u4e00q6 2203 21 other other JJ cord-014712-5u4e00q6 2203 22 because because IN cord-014712-5u4e00q6 2203 23 of of IN cord-014712-5u4e00q6 2203 24 CMV CMV NNP cord-014712-5u4e00q6 2203 25 infection infection NN cord-014712-5u4e00q6 2203 26 . . . cord-014712-5u4e00q6 2204 1 At at IN cord-014712-5u4e00q6 2204 2 a a DT cord-014712-5u4e00q6 2204 3 median median NN cord-014712-5u4e00q6 2204 4 follow follow NN cord-014712-5u4e00q6 2204 5 up up IN cord-014712-5u4e00q6 2204 6 of of IN cord-014712-5u4e00q6 2204 7 6 6 CD cord-014712-5u4e00q6 2204 8 months month NNS cord-014712-5u4e00q6 2204 9 ( ( -LRB- cord-014712-5u4e00q6 2204 10 range range VBP cord-014712-5u4e00q6 2204 11 0 0 CD cord-014712-5u4e00q6 2204 12 - - HYPH cord-014712-5u4e00q6 2204 13 64 64 CD cord-014712-5u4e00q6 2204 14 ) ) -RRB- cord-014712-5u4e00q6 2204 15 , , , cord-014712-5u4e00q6 2204 16 15 15 CD cord-014712-5u4e00q6 2204 17 patients patient NNS cord-014712-5u4e00q6 2204 18 are be VBP cord-014712-5u4e00q6 2204 19 alive alive JJ cord-014712-5u4e00q6 2204 20 , , , cord-014712-5u4e00q6 2204 21 with with IN cord-014712-5u4e00q6 2204 22 overall overall JJ cord-014712-5u4e00q6 2204 23 survival survival NN cord-014712-5u4e00q6 2204 24 of of IN cord-014712-5u4e00q6 2204 25 68 68 CD cord-014712-5u4e00q6 2204 26 % % NN cord-014712-5u4e00q6 2204 27 . . . cord-014712-5u4e00q6 2205 1 We -PRON- PRP cord-014712-5u4e00q6 2205 2 conclude conclude VBP cord-014712-5u4e00q6 2205 3 that that DT cord-014712-5u4e00q6 2205 4 ; ; : cord-014712-5u4e00q6 2205 5 our -PRON- PRP$ cord-014712-5u4e00q6 2205 6 clinic clinic NN cord-014712-5u4e00q6 2205 7 undertakes undertake VBZ cord-014712-5u4e00q6 2205 8 an an DT cord-014712-5u4e00q6 2205 9 important important JJ cord-014712-5u4e00q6 2205 10 duty duty NN cord-014712-5u4e00q6 2205 11 in in IN cord-014712-5u4e00q6 2205 12 our -PRON- PRP$ cord-014712-5u4e00q6 2205 13 region region NN cord-014712-5u4e00q6 2205 14 for for IN cord-014712-5u4e00q6 2205 15 PID PID NNP cord-014712-5u4e00q6 2205 16 patients patient NNS cord-014712-5u4e00q6 2205 17 . . . cord-014712-5u4e00q6 2206 1 Also also RB cord-014712-5u4e00q6 2206 2 , , , cord-014712-5u4e00q6 2206 3 different different JJ cord-014712-5u4e00q6 2206 4 PID PID NNP cord-014712-5u4e00q6 2206 5 's 's POS cord-014712-5u4e00q6 2206 6 could could MD cord-014712-5u4e00q6 2206 7 be be VB cord-014712-5u4e00q6 2206 8 seen see VBN cord-014712-5u4e00q6 2206 9 in in IN cord-014712-5u4e00q6 2206 10 our -PRON- PRP$ cord-014712-5u4e00q6 2206 11 region region NN cord-014712-5u4e00q6 2206 12 . . . cord-014712-5u4e00q6 2207 1 Nerological nerological JJ cord-014712-5u4e00q6 2207 2 complication complication NN cord-014712-5u4e00q6 2208 1 20 20 CD cord-014712-5u4e00q6 2208 2 1 1 CD cord-014712-5u4e00q6 2208 3 patient patient NN cord-014712-5u4e00q6 2208 4 ( ( -LRB- cord-014712-5u4e00q6 2208 5 epilepsy epilepsy NN cord-014712-5u4e00q6 2208 6 , , , cord-014712-5u4e00q6 2208 7 brain brain NN cord-014712-5u4e00q6 2208 8 infarct infarct NN cord-014712-5u4e00q6 2208 9 ) ) -RRB- cord-014712-5u4e00q6 2209 1 Outcome outcome NN cord-014712-5u4e00q6 2209 2 3 3 CD cord-014712-5u4e00q6 2209 3 died die VBD cord-014712-5u4e00q6 2209 4 ( ( -LRB- cord-014712-5u4e00q6 2209 5 one one CD cord-014712-5u4e00q6 2209 6 with with IN cord-014712-5u4e00q6 2209 7 post post NNP cord-014712-5u4e00q6 2209 8 -BMT -bmt JJ cord-014712-5u4e00q6 2209 9 comp comp NN cord-014712-5u4e00q6 2209 10 . . NNP cord-014712-5u4e00q6 2209 11 , , , cord-014712-5u4e00q6 2209 12 2 2 CD cord-014712-5u4e00q6 2209 13 with with IN cord-014712-5u4e00q6 2209 14 malignancy malignancy NN cord-014712-5u4e00q6 2210 1 All all DT cord-014712-5u4e00q6 2210 2 alive alive JJ cord-014712-5u4e00q6 2210 3 Department Department NNP cord-014712-5u4e00q6 2210 4 of of IN cord-014712-5u4e00q6 2210 5 Pediatrics Pediatrics NNP cord-014712-5u4e00q6 2210 6 and and CC cord-014712-5u4e00q6 2210 7 Adolescent Adolescent NNP cord-014712-5u4e00q6 2210 8 medicine medicine NN cord-014712-5u4e00q6 2210 9 1 1 CD cord-014712-5u4e00q6 2210 10 Department Department NNP cord-014712-5u4e00q6 2210 11 of of IN cord-014712-5u4e00q6 2210 12 Allergology Allergology NNP cord-014712-5u4e00q6 2210 13 , , , cord-014712-5u4e00q6 2210 14 Rheumatology Rheumatology NNP cord-014712-5u4e00q6 2210 15 and and CC cord-014712-5u4e00q6 2210 16 Clinical Clinical NNP cord-014712-5u4e00q6 2210 17 Immunology Immunology NNP cord-014712-5u4e00q6 2210 18 , , , cord-014712-5u4e00q6 2210 19 University University NNP cord-014712-5u4e00q6 2210 20 Children Children NNPS cord-014712-5u4e00q6 2210 21 's 's POS cord-014712-5u4e00q6 2210 22 Hospital Hospital NNP cord-014712-5u4e00q6 2210 23 , , , cord-014712-5u4e00q6 2210 24 University University NNP cord-014712-5u4e00q6 2210 25 Medical Medical NNP cord-014712-5u4e00q6 2210 26 Centre Centre NNP cord-014712-5u4e00q6 2210 27 , , , cord-014712-5u4e00q6 2210 28 Ljubljana Ljubljana NNP cord-014712-5u4e00q6 2210 29 , , , cord-014712-5u4e00q6 2210 30 Slovenia Slovenia NNP cord-014712-5u4e00q6 2210 31 . . . cord-014712-5u4e00q6 2210 32 developed develop VBD cord-014712-5u4e00q6 2210 33 . . . cord-014712-5u4e00q6 2211 1 There there EX cord-014712-5u4e00q6 2211 2 is be VBZ cord-014712-5u4e00q6 2211 3 no no DT cord-014712-5u4e00q6 2211 4 severe severe JJ cord-014712-5u4e00q6 2211 5 life life NN cord-014712-5u4e00q6 2211 6 - - HYPH cord-014712-5u4e00q6 2211 7 threatening threaten VBG cord-014712-5u4e00q6 2211 8 complications complication NNS cord-014712-5u4e00q6 2211 9 development development NN cord-014712-5u4e00q6 2211 10 . . . cord-014712-5u4e00q6 2212 1 We -PRON- PRP cord-014712-5u4e00q6 2212 2 describe describe VBP cord-014712-5u4e00q6 2212 3 here here RB cord-014712-5u4e00q6 2212 4 a a DT cord-014712-5u4e00q6 2212 5 patient patient NN cord-014712-5u4e00q6 2212 6 with with IN cord-014712-5u4e00q6 2212 7 invasive invasive JJ cord-014712-5u4e00q6 2212 8 Cryptococcus Cryptococcus NNP cord-014712-5u4e00q6 2212 9 laurentii laurentii NN cord-014712-5u4e00q6 2212 10 infection infection NN cord-014712-5u4e00q6 2212 11 and and CC cord-014712-5u4e00q6 2212 12 the the DT cord-014712-5u4e00q6 2212 13 X x NN cord-014712-5u4e00q6 2212 14 - - HYPH cord-014712-5u4e00q6 2212 15 linked link VBN cord-014712-5u4e00q6 2212 16 form form NN cord-014712-5u4e00q6 2212 17 of of IN cord-014712-5u4e00q6 2212 18 hyper hyper JJ cord-014712-5u4e00q6 2212 19 - - JJ cord-014712-5u4e00q6 2212 20 IgM igm JJ cord-014712-5u4e00q6 2212 21 syndrome syndrome NN cord-014712-5u4e00q6 2212 22 ( ( -LRB- cord-014712-5u4e00q6 2212 23 X X NNP cord-014712-5u4e00q6 2212 24 - - NNP cord-014712-5u4e00q6 2212 25 HIGM HIGM NNP cord-014712-5u4e00q6 2212 26 ) ) -RRB- cord-014712-5u4e00q6 2212 27 . . . cord-014712-5u4e00q6 2213 1 C.laurentii C.laurentii NNP cord-014712-5u4e00q6 2213 2 is be VBZ cord-014712-5u4e00q6 2213 3 an an DT cord-014712-5u4e00q6 2213 4 extremely extremely RB cord-014712-5u4e00q6 2213 5 rare rare JJ cord-014712-5u4e00q6 2213 6 human human JJ cord-014712-5u4e00q6 2213 7 pathogen pathogen NN cord-014712-5u4e00q6 2213 8 . . . cord-014712-5u4e00q6 2214 1 This this DT cord-014712-5u4e00q6 2214 2 fungus fungus NN cord-014712-5u4e00q6 2214 3 was be VBD cord-014712-5u4e00q6 2214 4 previously previously RB cord-014712-5u4e00q6 2214 5 considered consider VBN cord-014712-5u4e00q6 2214 6 saprophytic saprophytic JJ cord-014712-5u4e00q6 2214 7 and and CC cord-014712-5u4e00q6 2214 8 non non JJ cord-014712-5u4e00q6 2214 9 - - JJ cord-014712-5u4e00q6 2214 10 pathogenic pathogenic JJ cord-014712-5u4e00q6 2214 11 to to IN cord-014712-5u4e00q6 2214 12 humans human NNS cord-014712-5u4e00q6 2214 13 , , , cord-014712-5u4e00q6 2214 14 but but CC cord-014712-5u4e00q6 2214 15 it -PRON- PRP cord-014712-5u4e00q6 2214 16 has have VBZ cord-014712-5u4e00q6 2214 17 been be VBN cord-014712-5u4e00q6 2214 18 isolated isolate VBN cord-014712-5u4e00q6 2214 19 as as IN cord-014712-5u4e00q6 2214 20 the the DT cord-014712-5u4e00q6 2214 21 etiologic etiologic JJ cord-014712-5u4e00q6 2214 22 agent agent NN cord-014712-5u4e00q6 2214 23 of of IN cord-014712-5u4e00q6 2214 24 skin skin NN cord-014712-5u4e00q6 2214 25 infection infection NN cord-014712-5u4e00q6 2214 26 , , , cord-014712-5u4e00q6 2214 27 keratitis keratitis NN cord-014712-5u4e00q6 2214 28 , , , cord-014712-5u4e00q6 2214 29 endophthalmitis endophthalmitis NNP cord-014712-5u4e00q6 2214 30 , , , cord-014712-5u4e00q6 2214 31 lung lung NN cord-014712-5u4e00q6 2214 32 abscess abscess NN cord-014712-5u4e00q6 2214 33 , , , cord-014712-5u4e00q6 2214 34 peritonitis peritonitis NN cord-014712-5u4e00q6 2214 35 , , , cord-014712-5u4e00q6 2214 36 meningitis meningitis NN cord-014712-5u4e00q6 2214 37 , , , cord-014712-5u4e00q6 2214 38 and and CC cord-014712-5u4e00q6 2214 39 fungemia fungemia NN cord-014712-5u4e00q6 2214 40 . . . cord-014712-5u4e00q6 2215 1 Most most RBS cord-014712-5u4e00q6 2215 2 affected affect VBN cord-014712-5u4e00q6 2215 3 individuals individual NNS cord-014712-5u4e00q6 2215 4 had have VBD cord-014712-5u4e00q6 2215 5 a a DT cord-014712-5u4e00q6 2215 6 compromised compromised JJ cord-014712-5u4e00q6 2215 7 immune immune JJ cord-014712-5u4e00q6 2215 8 system system NN cord-014712-5u4e00q6 2215 9 because because IN cord-014712-5u4e00q6 2215 10 of of IN cord-014712-5u4e00q6 2215 11 leukemia leukemia NN cord-014712-5u4e00q6 2215 12 , , , cord-014712-5u4e00q6 2215 13 cancer cancer NN cord-014712-5u4e00q6 2215 14 , , , cord-014712-5u4e00q6 2215 15 diabetes diabetes NN cord-014712-5u4e00q6 2215 16 mellitus mellitus NN cord-014712-5u4e00q6 2215 17 , , , cord-014712-5u4e00q6 2215 18 AIDS AIDS NNP cord-014712-5u4e00q6 2215 19 , , , cord-014712-5u4e00q6 2215 20 or or CC cord-014712-5u4e00q6 2215 21 prematurity prematurity NN cord-014712-5u4e00q6 2215 22 . . . cord-014712-5u4e00q6 2216 1 Repeated repeat VBN cord-014712-5u4e00q6 2216 2 isolation isolation NN cord-014712-5u4e00q6 2216 3 of of IN cord-014712-5u4e00q6 2216 4 C.laurentii C.laurentii NNP cord-014712-5u4e00q6 2216 5 from from IN cord-014712-5u4e00q6 2216 6 the the DT cord-014712-5u4e00q6 2216 7 oropharynx oropharynx NN cord-014712-5u4e00q6 2216 8 of of IN cord-014712-5u4e00q6 2216 9 an an DT cord-014712-5u4e00q6 2216 10 immunocompromised immunocompromised JJ cord-014712-5u4e00q6 2216 11 patient patient NN cord-014712-5u4e00q6 2216 12 has have VBZ cord-014712-5u4e00q6 2216 13 also also RB cord-014712-5u4e00q6 2216 14 been be VBN cord-014712-5u4e00q6 2216 15 documented document VBN cord-014712-5u4e00q6 2216 16 . . . cord-014712-5u4e00q6 2217 1 Invasive invasive JJ cord-014712-5u4e00q6 2217 2 C.laurentii C.laurentii NNP cord-014712-5u4e00q6 2217 3 infection infection NN cord-014712-5u4e00q6 2217 4 has have VBZ cord-014712-5u4e00q6 2217 5 not not RB cord-014712-5u4e00q6 2217 6 been be VBN cord-014712-5u4e00q6 2217 7 reported report VBN cord-014712-5u4e00q6 2217 8 in in IN cord-014712-5u4e00q6 2217 9 patients patient NNS cord-014712-5u4e00q6 2217 10 with with IN cord-014712-5u4e00q6 2217 11 any any DT cord-014712-5u4e00q6 2217 12 form form NN cord-014712-5u4e00q6 2217 13 of of IN cord-014712-5u4e00q6 2217 14 primary primary JJ cord-014712-5u4e00q6 2217 15 immunodeficiency immunodeficiency NN cord-014712-5u4e00q6 2217 16 disorder disorder NN cord-014712-5u4e00q6 2217 17 emphasizing emphasize VBG cord-014712-5u4e00q6 2217 18 the the DT cord-014712-5u4e00q6 2217 19 true true JJ cord-014712-5u4e00q6 2217 20 rarity rarity NN cord-014712-5u4e00q6 2217 21 of of IN cord-014712-5u4e00q6 2217 22 disease disease NN cord-014712-5u4e00q6 2217 23 due due IN cord-014712-5u4e00q6 2217 24 to to IN cord-014712-5u4e00q6 2217 25 this this DT cord-014712-5u4e00q6 2217 26 fungus fungus NN cord-014712-5u4e00q6 2217 27 . . . cord-014712-5u4e00q6 2218 1 Two two CD cord-014712-5u4e00q6 2218 2 groups group NNS cord-014712-5u4e00q6 2218 3 have have VBP cord-014712-5u4e00q6 2218 4 recently recently RB cord-014712-5u4e00q6 2218 5 reported report VBN cord-014712-5u4e00q6 2218 6 that that IN cord-014712-5u4e00q6 2218 7 dectin-1 dectin-1 NNP cord-014712-5u4e00q6 2218 8 deficiency deficiency NN cord-014712-5u4e00q6 2218 9 due due IN cord-014712-5u4e00q6 2218 10 to to IN cord-014712-5u4e00q6 2218 11 the the DT cord-014712-5u4e00q6 2218 12 mutation mutation NN cord-014712-5u4e00q6 2218 13 of of IN cord-014712-5u4e00q6 2218 14 CLEC7A clec7a NN cord-014712-5u4e00q6 2218 15 or or CC cord-014712-5u4e00q6 2218 16 premature premature JJ cord-014712-5u4e00q6 2218 17 termination termination NN cord-014712-5u4e00q6 2218 18 of of IN cord-014712-5u4e00q6 2218 19 the the DT cord-014712-5u4e00q6 2218 20 dectin-1 dectin-1 NNP cord-014712-5u4e00q6 2218 21 signal signal NN cord-014712-5u4e00q6 2218 22 transduction transduction NN cord-014712-5u4e00q6 2218 23 molecule molecule NN cord-014712-5u4e00q6 2218 24 CARD9 CARD9 NNP cord-014712-5u4e00q6 2218 25 may may MD cord-014712-5u4e00q6 2218 26 predispose predispose VB cord-014712-5u4e00q6 2218 27 patients patient NNS cord-014712-5u4e00q6 2218 28 to to IN cord-014712-5u4e00q6 2218 29 chronic chronic JJ cord-014712-5u4e00q6 2218 30 mucocutaneous mucocutaneous JJ cord-014712-5u4e00q6 2218 31 candidiasis candidiasis NN cord-014712-5u4e00q6 2218 32 ( ( -LRB- cord-014712-5u4e00q6 2218 33 CMC CMC NNP cord-014712-5u4e00q6 2218 34 ) ) -RRB- cord-014712-5u4e00q6 2218 35 . . . cord-014712-5u4e00q6 2219 1 We -PRON- PRP cord-014712-5u4e00q6 2219 2 studied study VBD cord-014712-5u4e00q6 2219 3 the the DT cord-014712-5u4e00q6 2219 4 frequency frequency NN cord-014712-5u4e00q6 2219 5 of of IN cord-014712-5u4e00q6 2219 6 CLEC7A CLEC7A NNP cord-014712-5u4e00q6 2219 7 mutation mutation NN cord-014712-5u4e00q6 2219 8 in in IN cord-014712-5u4e00q6 2219 9 76 76 CD cord-014712-5u4e00q6 2219 10 healthy healthy JJ cord-014712-5u4e00q6 2219 11 individuals individual NNS cord-014712-5u4e00q6 2219 12 , , , cord-014712-5u4e00q6 2219 13 10 10 CD cord-014712-5u4e00q6 2219 14 patients patient NNS cord-014712-5u4e00q6 2219 15 with with IN cord-014712-5u4e00q6 2219 16 the the DT cord-014712-5u4e00q6 2219 17 hyper hyper NNP cord-014712-5u4e00q6 2219 18 - - HYPH cord-014712-5u4e00q6 2219 19 IgE ige JJ cord-014712-5u4e00q6 2219 20 syndrome syndrome NN cord-014712-5u4e00q6 2219 21 ( ( -LRB- cord-014712-5u4e00q6 2219 22 HIES HIES NNP cord-014712-5u4e00q6 2219 23 ) ) -RRB- cord-014712-5u4e00q6 2219 24 , , , cord-014712-5u4e00q6 2219 25 and and CC cord-014712-5u4e00q6 2219 26 8 8 CD cord-014712-5u4e00q6 2219 27 patients patient NNS cord-014712-5u4e00q6 2219 28 with with IN cord-014712-5u4e00q6 2219 29 autoimmune autoimmune JJ cord-014712-5u4e00q6 2219 30 polyendocrine polyendocrine NNP cord-014712-5u4e00q6 2219 31 syndrome syndrome NN cord-014712-5u4e00q6 2219 32 type type NN cord-014712-5u4e00q6 2219 33 1 1 CD cord-014712-5u4e00q6 2219 34 ( ( -LRB- cord-014712-5u4e00q6 2219 35 APS-1 APS-1 NNP cord-014712-5u4e00q6 2219 36 ) ) -RRB- cord-014712-5u4e00q6 2219 37 , , , cord-014712-5u4e00q6 2219 38 all all DT cord-014712-5u4e00q6 2219 39 aged age VBN cord-014712-5u4e00q6 2219 40 between between IN cord-014712-5u4e00q6 2219 41 2 2 CD cord-014712-5u4e00q6 2219 42 to to TO cord-014712-5u4e00q6 2219 43 60 60 CD cord-014712-5u4e00q6 2219 44 years year NNS cord-014712-5u4e00q6 2219 45 . . . cord-014712-5u4e00q6 2220 1 Genomic genomic JJ cord-014712-5u4e00q6 2220 2 DNA dna NN cord-014712-5u4e00q6 2220 3 was be VBD cord-014712-5u4e00q6 2220 4 isolated isolate VBN cord-014712-5u4e00q6 2220 5 from from IN cord-014712-5u4e00q6 2220 6 peripheral peripheral JJ cord-014712-5u4e00q6 2220 7 blood blood NN cord-014712-5u4e00q6 2220 8 . . . cord-014712-5u4e00q6 2221 1 Monocytes monocyte NNS cord-014712-5u4e00q6 2221 2 and and CC cord-014712-5u4e00q6 2221 3 monocyte monocyte NN cord-014712-5u4e00q6 2221 4 - - HYPH cord-014712-5u4e00q6 2221 5 derived derive VBN cord-014712-5u4e00q6 2221 6 dendritic dendritic JJ cord-014712-5u4e00q6 2221 7 cells cell NNS cord-014712-5u4e00q6 2221 8 ( ( -LRB- cord-014712-5u4e00q6 2221 9 MDDCs mddc NNS cord-014712-5u4e00q6 2221 10 ) ) -RRB- cord-014712-5u4e00q6 2221 11 were be VBD cord-014712-5u4e00q6 2221 12 used use VBN cord-014712-5u4e00q6 2221 13 to to TO cord-014712-5u4e00q6 2221 14 study study VB cord-014712-5u4e00q6 2221 15 the the DT cord-014712-5u4e00q6 2221 16 phenotypic phenotypic JJ cord-014712-5u4e00q6 2221 17 expression expression NN cord-014712-5u4e00q6 2221 18 of of IN cord-014712-5u4e00q6 2221 19 dectin-1 dectin-1 NNP cord-014712-5u4e00q6 2221 20 . . . cord-014712-5u4e00q6 2222 1 CLEC7A CLEC7A NNP cord-014712-5u4e00q6 2222 2 gene gene NN cord-014712-5u4e00q6 2222 3 was be VBD cord-014712-5u4e00q6 2222 4 sequenced sequence VBN cord-014712-5u4e00q6 2222 5 with with IN cord-014712-5u4e00q6 2222 6 the the DT cord-014712-5u4e00q6 2222 7 Big big JJ cord-014712-5u4e00q6 2222 8 Dye Dye NNP cord-014712-5u4e00q6 2222 9 Terminator Terminator NNP cord-014712-5u4e00q6 2222 10 cycle cycle NN cord-014712-5u4e00q6 2222 11 sequencing sequencing NN cord-014712-5u4e00q6 2222 12 kit kit NN cord-014712-5u4e00q6 2222 13 . . . cord-014712-5u4e00q6 2223 1 Mononuclear Mononuclear NNP cord-014712-5u4e00q6 2223 2 cells cell NNS cord-014712-5u4e00q6 2223 3 ( ( -LRB- cord-014712-5u4e00q6 2223 4 MCs mc NNS cord-014712-5u4e00q6 2223 5 ) ) -RRB- cord-014712-5u4e00q6 2223 6 were be VBD cord-014712-5u4e00q6 2223 7 isolated isolate VBN cord-014712-5u4e00q6 2223 8 from from IN cord-014712-5u4e00q6 2223 9 heparin heparin NN cord-014712-5u4e00q6 2223 10 - - HYPH cord-014712-5u4e00q6 2223 11 treated treat VBN cord-014712-5u4e00q6 2223 12 venous venous JJ cord-014712-5u4e00q6 2223 13 blood blood NN cord-014712-5u4e00q6 2223 14 . . . cord-014712-5u4e00q6 2224 1 MDCCs mdcc NNS cord-014712-5u4e00q6 2224 2 were be VBD cord-014712-5u4e00q6 2224 3 obtained obtain VBN cord-014712-5u4e00q6 2224 4 by by IN cord-014712-5u4e00q6 2224 5 culturing culture VBG cord-014712-5u4e00q6 2224 6 monocytes monocyte NNS cord-014712-5u4e00q6 2224 7 isolated isolate VBN cord-014712-5u4e00q6 2224 8 by by IN cord-014712-5u4e00q6 2224 9 immunomagnetic immunomagnetic JJ cord-014712-5u4e00q6 2224 10 cell cell NN cord-014712-5u4e00q6 2224 11 separation separation NN cord-014712-5u4e00q6 2224 12 assay assay NN cord-014712-5u4e00q6 2224 13 . . . cord-014712-5u4e00q6 2225 1 Receptor receptor NN cord-014712-5u4e00q6 2225 2 expression expression NN cord-014712-5u4e00q6 2225 3 was be VBD cord-014712-5u4e00q6 2225 4 assessed assess VBN cord-014712-5u4e00q6 2225 5 by by IN cord-014712-5u4e00q6 2225 6 flow flow NN cord-014712-5u4e00q6 2225 7 cytometry cytometry NN cord-014712-5u4e00q6 2225 8 . . . cord-014712-5u4e00q6 2226 1 Secretion secretion NN cord-014712-5u4e00q6 2226 2 of of IN cord-014712-5u4e00q6 2226 3 IL-17A IL-17A NNP cord-014712-5u4e00q6 2226 4 by by IN cord-014712-5u4e00q6 2226 5 MCs MCs NNPS cord-014712-5u4e00q6 2226 6 stimulated stimulate VBD cord-014712-5u4e00q6 2226 7 with with IN cord-014712-5u4e00q6 2226 8 killed kill VBN cord-014712-5u4e00q6 2226 9 C. C. NNP cord-014712-5u4e00q6 2226 10 albicans albican NNS cord-014712-5u4e00q6 2226 11 blastoconidia blastoconidia NNP cord-014712-5u4e00q6 2226 12 was be VBD cord-014712-5u4e00q6 2226 13 assessed assess VBN cord-014712-5u4e00q6 2226 14 by by IN cord-014712-5u4e00q6 2226 15 ELISA ELISA NNP cord-014712-5u4e00q6 2226 16 . . . cord-014712-5u4e00q6 2227 1 We -PRON- PRP cord-014712-5u4e00q6 2227 2 report report VBP cord-014712-5u4e00q6 2227 3 here here RB cord-014712-5u4e00q6 2227 4 on on IN cord-014712-5u4e00q6 2227 5 healthy healthy JJ cord-014712-5u4e00q6 2227 6 individuals individual NNS cord-014712-5u4e00q6 2227 7 with with IN cord-014712-5u4e00q6 2227 8 homozygous homozygous JJ cord-014712-5u4e00q6 2227 9 ( ( -LRB- cord-014712-5u4e00q6 2227 10 one one CD cord-014712-5u4e00q6 2227 11 38year 38year JJ cord-014712-5u4e00q6 2227 12 - - HYPH cord-014712-5u4e00q6 2227 13 old old JJ cord-014712-5u4e00q6 2227 14 man man NN cord-014712-5u4e00q6 2227 15 ) ) -RRB- cord-014712-5u4e00q6 2227 16 or or CC cord-014712-5u4e00q6 2227 17 heterozygous heterozygous JJ cord-014712-5u4e00q6 2227 18 ( ( -LRB- cord-014712-5u4e00q6 2227 19 32 32 CD cord-014712-5u4e00q6 2227 20 men man NNS cord-014712-5u4e00q6 2227 21 and and CC cord-014712-5u4e00q6 2227 22 44 44 CD cord-014712-5u4e00q6 2227 23 women woman NNS cord-014712-5u4e00q6 2227 24 ) ) -RRB- cord-014712-5u4e00q6 2228 1 Tyr238X Tyr238X NNP cord-014712-5u4e00q6 2228 2 mutation mutation NN cord-014712-5u4e00q6 2228 3 in in IN cord-014712-5u4e00q6 2228 4 the the DT cord-014712-5u4e00q6 2228 5 dectin-1 dectin-1 NNP cord-014712-5u4e00q6 2228 6 gene gene NN cord-014712-5u4e00q6 2228 7 but but CC cord-014712-5u4e00q6 2228 8 no no DT cord-014712-5u4e00q6 2228 9 signs sign NNS cord-014712-5u4e00q6 2228 10 of of IN cord-014712-5u4e00q6 2228 11 CMC CMC NNP cord-014712-5u4e00q6 2228 12 . . . cord-014712-5u4e00q6 2229 1 Dectin-1 Dectin-1 NNP cord-014712-5u4e00q6 2229 2 levels level NNS cord-014712-5u4e00q6 2229 3 on on IN cord-014712-5u4e00q6 2229 4 monocytes monocyte NNS cord-014712-5u4e00q6 2229 5 and and CC cord-014712-5u4e00q6 2229 6 MDDCs mddc NNS cord-014712-5u4e00q6 2229 7 were be VBD cord-014712-5u4e00q6 2229 8 negligible negligible JJ cord-014712-5u4e00q6 2229 9 in in IN cord-014712-5u4e00q6 2229 10 the the DT cord-014712-5u4e00q6 2229 11 homozygous homozygous JJ cord-014712-5u4e00q6 2229 12 man man NN cord-014712-5u4e00q6 2229 13 and and CC cord-014712-5u4e00q6 2229 14 the the DT cord-014712-5u4e00q6 2229 15 heterozygous heterozygous JJ cord-014712-5u4e00q6 2229 16 individuals individual NNS cord-014712-5u4e00q6 2229 17 displayed display VBD cord-014712-5u4e00q6 2229 18 intermediate intermediate JJ cord-014712-5u4e00q6 2229 19 levels level NNS cord-014712-5u4e00q6 2229 20 of of IN cord-014712-5u4e00q6 2229 21 dectin-1 dectin-1 NNP cord-014712-5u4e00q6 2229 22 , , , cord-014712-5u4e00q6 2229 23 between between IN cord-014712-5u4e00q6 2229 24 those those DT cord-014712-5u4e00q6 2229 25 of of IN cord-014712-5u4e00q6 2229 26 the the DT cord-014712-5u4e00q6 2229 27 homozygous homozygous JJ cord-014712-5u4e00q6 2229 28 man man NN cord-014712-5u4e00q6 2229 29 and and CC cord-014712-5u4e00q6 2229 30 the the DT cord-014712-5u4e00q6 2229 31 wild wild JJ cord-014712-5u4e00q6 2229 32 - - HYPH cord-014712-5u4e00q6 2229 33 type type NN cord-014712-5u4e00q6 2229 34 controls control NNS cord-014712-5u4e00q6 2229 35 . . . cord-014712-5u4e00q6 2230 1 Markedly markedly RB cord-014712-5u4e00q6 2230 2 lower low JJR cord-014712-5u4e00q6 2230 3 levels level NNS cord-014712-5u4e00q6 2230 4 of of IN cord-014712-5u4e00q6 2230 5 IL-17A il-17a JJ cord-014712-5u4e00q6 2230 6 production production NN cord-014712-5u4e00q6 2230 7 were be VBD cord-014712-5u4e00q6 2230 8 observed observe VBN cord-014712-5u4e00q6 2230 9 in in IN cord-014712-5u4e00q6 2230 10 the the DT cord-014712-5u4e00q6 2230 11 cells cell NNS cord-014712-5u4e00q6 2230 12 of of IN cord-014712-5u4e00q6 2230 13 the the DT cord-014712-5u4e00q6 2230 14 man man NN cord-014712-5u4e00q6 2230 15 with with IN cord-014712-5u4e00q6 2230 16 the the DT cord-014712-5u4e00q6 2230 17 homozygous homozygous JJ cord-014712-5u4e00q6 2230 18 mutation mutation NN cord-014712-5u4e00q6 2230 19 than than IN cord-014712-5u4e00q6 2230 20 in in IN cord-014712-5u4e00q6 2230 21 the the DT cord-014712-5u4e00q6 2230 22 control control NN cord-014712-5u4e00q6 2230 23 cells cell NNS cord-014712-5u4e00q6 2230 24 . . . cord-014712-5u4e00q6 2231 1 Levels level NNS cord-014712-5u4e00q6 2231 2 of of IN cord-014712-5u4e00q6 2231 3 production production NN cord-014712-5u4e00q6 2231 4 of of IN cord-014712-5u4e00q6 2231 5 this this DT cord-014712-5u4e00q6 2231 6 cytokine cytokine NN cord-014712-5u4e00q6 2231 7 were be VBD cord-014712-5u4e00q6 2231 8 intermediate intermediate JJ cord-014712-5u4e00q6 2231 9 in in IN cord-014712-5u4e00q6 2231 10 heterozygotes heterozygote NNS cord-014712-5u4e00q6 2231 11 . . . cord-014712-5u4e00q6 2232 1 The the DT cord-014712-5u4e00q6 2232 2 frequency frequency NN cord-014712-5u4e00q6 2232 3 of of IN cord-014712-5u4e00q6 2232 4 Tyr238X tyr238x CD cord-014712-5u4e00q6 2232 5 heterozygous heterozygous JJ cord-014712-5u4e00q6 2232 6 individuals individual NNS cord-014712-5u4e00q6 2232 7 was be VBD cord-014712-5u4e00q6 2232 8 21 21 CD cord-014712-5u4e00q6 2232 9 % % NN cord-014712-5u4e00q6 2232 10 among among IN cord-014712-5u4e00q6 2232 11 healthy healthy JJ cord-014712-5u4e00q6 2232 12 donors donor NNS cord-014712-5u4e00q6 2232 13 and and CC cord-014712-5u4e00q6 2232 14 10 10 CD cord-014712-5u4e00q6 2232 15 % % NN cord-014712-5u4e00q6 2232 16 in in IN cord-014712-5u4e00q6 2232 17 patients patient NNS cord-014712-5u4e00q6 2232 18 with with IN cord-014712-5u4e00q6 2232 19 HIES HIES NNP cord-014712-5u4e00q6 2232 20 and and CC cord-014712-5u4e00q6 2232 21 20 20 CD cord-014712-5u4e00q6 2232 22 % % NN cord-014712-5u4e00q6 2232 23 in in IN cord-014712-5u4e00q6 2232 24 patients patient NNS cord-014712-5u4e00q6 2232 25 with with IN cord-014712-5u4e00q6 2232 26 APS1 APS1 NNP cord-014712-5u4e00q6 2232 27 . . . cord-014712-5u4e00q6 2233 1 Importantly importantly RB cord-014712-5u4e00q6 2233 2 , , , cord-014712-5u4e00q6 2233 3 the the DT cord-014712-5u4e00q6 2233 4 10 10 CD cord-014712-5u4e00q6 2233 5 year year NN cord-014712-5u4e00q6 2233 6 - - HYPH cord-014712-5u4e00q6 2233 7 old old JJ cord-014712-5u4e00q6 2233 8 HIES hies JJ cord-014712-5u4e00q6 2233 9 girl girl NN cord-014712-5u4e00q6 2233 10 with with IN cord-014712-5u4e00q6 2233 11 heterozygous heterozygous JJ cord-014712-5u4e00q6 2233 12 Tyr238X Tyr238X NNP cord-014712-5u4e00q6 2233 13 mutations mutation NNS cord-014712-5u4e00q6 2233 14 has have VBZ cord-014712-5u4e00q6 2233 15 never never RB cord-014712-5u4e00q6 2233 16 had have VBN cord-014712-5u4e00q6 2233 17 mucocutaneous mucocutaneous JJ cord-014712-5u4e00q6 2233 18 candidiasis candidiasi NNS cord-014712-5u4e00q6 2233 19 . . . cord-014712-5u4e00q6 2234 1 We -PRON- PRP cord-014712-5u4e00q6 2234 2 suggest suggest VBP cord-014712-5u4e00q6 2234 3 that that IN cord-014712-5u4e00q6 2234 4 dectin-1 dectin-1 NNP cord-014712-5u4e00q6 2234 5 receptor receptor NN cord-014712-5u4e00q6 2234 6 - - HYPH cord-014712-5u4e00q6 2234 7 mediated mediate VBN cord-014712-5u4e00q6 2234 8 immunity immunity NN cord-014712-5u4e00q6 2234 9 is be VBZ cord-014712-5u4e00q6 2234 10 redundant redundant JJ cord-014712-5u4e00q6 2234 11 for for IN cord-014712-5u4e00q6 2234 12 host host NN cord-014712-5u4e00q6 2234 13 defense defense NN cord-014712-5u4e00q6 2234 14 against against IN cord-014712-5u4e00q6 2234 15 CMC CMC NNP cord-014712-5u4e00q6 2234 16 , , , cord-014712-5u4e00q6 2234 17 possibly possibly RB cord-014712-5u4e00q6 2234 18 due due IN cord-014712-5u4e00q6 2234 19 to to IN cord-014712-5u4e00q6 2234 20 the the DT cord-014712-5u4e00q6 2234 21 involvement involvement NN cord-014712-5u4e00q6 2234 22 of of IN cord-014712-5u4e00q6 2234 23 multiple multiple JJ cord-014712-5u4e00q6 2234 24 lectin lectin NN cord-014712-5u4e00q6 2234 25 receptors receptor NNS cord-014712-5u4e00q6 2234 26 in in IN cord-014712-5u4e00q6 2234 27 the the DT cord-014712-5u4e00q6 2234 28 recognition recognition NN cord-014712-5u4e00q6 2234 29 and and CC cord-014712-5u4e00q6 2234 30 uptake uptake NN cord-014712-5u4e00q6 2234 31 of of IN cord-014712-5u4e00q6 2234 32 Candida Candida NNP cord-014712-5u4e00q6 2234 33 . . . cord-014712-5u4e00q6 2235 1 Chronic chronic JJ cord-014712-5u4e00q6 2235 2 mucocutaneous mucocutaneous JJ cord-014712-5u4e00q6 2235 3 candidiasis candidiasis NN cord-014712-5u4e00q6 2235 4 ( ( -LRB- cord-014712-5u4e00q6 2235 5 CMC CMC NNP cord-014712-5u4e00q6 2235 6 ) ) -RRB- cord-014712-5u4e00q6 2235 7 is be VBZ cord-014712-5u4e00q6 2235 8 a a DT cord-014712-5u4e00q6 2235 9 heterogenous heterogenous JJ cord-014712-5u4e00q6 2235 10 group group NN cord-014712-5u4e00q6 2235 11 with with IN cord-014712-5u4e00q6 2235 12 recurrent recurrent JJ cord-014712-5u4e00q6 2235 13 chronic chronic JJ cord-014712-5u4e00q6 2235 14 Candida Candida NNP cord-014712-5u4e00q6 2235 15 infections infection NNS cord-014712-5u4e00q6 2235 16 spesifically spesifically RB cord-014712-5u4e00q6 2235 17 involving involve VBG cord-014712-5u4e00q6 2235 18 nails nail NNS cord-014712-5u4e00q6 2235 19 , , , cord-014712-5u4e00q6 2235 20 skin skin NN cord-014712-5u4e00q6 2235 21 and and CC cord-014712-5u4e00q6 2235 22 oropharynx oropharynx NN cord-014712-5u4e00q6 2235 23 . . . cord-014712-5u4e00q6 2236 1 Several several JJ cord-014712-5u4e00q6 2236 2 immunodeficiencies immunodeficiency NNS cord-014712-5u4e00q6 2236 3 as as IN cord-014712-5u4e00q6 2236 4 DOCK-8 dock-8 JJ cord-014712-5u4e00q6 2236 5 deficiency deficiency NN cord-014712-5u4e00q6 2236 6 , , , cord-014712-5u4e00q6 2236 7 severe severe JJ cord-014712-5u4e00q6 2236 8 combined combine VBN cord-014712-5u4e00q6 2236 9 immune immune JJ cord-014712-5u4e00q6 2236 10 deficiency deficiency NN cord-014712-5u4e00q6 2236 11 , , , cord-014712-5u4e00q6 2236 12 autoimmune autoimmune JJ cord-014712-5u4e00q6 2236 13 polyglandular polyglandular NNP cord-014712-5u4e00q6 2236 14 syndrome syndrome NN cord-014712-5u4e00q6 2236 15 type type NN cord-014712-5u4e00q6 2236 16 1 1 CD cord-014712-5u4e00q6 2236 17 ( ( -LRB- cord-014712-5u4e00q6 2236 18 APECED APECED NNP cord-014712-5u4e00q6 2236 19 ) ) -RRB- cord-014712-5u4e00q6 2236 20 , , , cord-014712-5u4e00q6 2236 21 IL-12Rβ1 il-12rβ1 NN cord-014712-5u4e00q6 2236 22 and and CC cord-014712-5u4e00q6 2236 23 IL-12p40 IL-12p40 NNP cord-014712-5u4e00q6 2236 24 deficiencies deficiency NNS cord-014712-5u4e00q6 2236 25 , , , cord-014712-5u4e00q6 2236 26 CARD card NN cord-014712-5u4e00q6 2236 27 9 9 CD cord-014712-5u4e00q6 2236 28 , , , cord-014712-5u4e00q6 2236 29 STAT-3 STAT-3 NNP cord-014712-5u4e00q6 2236 30 and and CC cord-014712-5u4e00q6 2236 31 STAT-1 STAT-1 NNS cord-014712-5u4e00q6 2236 32 can can MD cord-014712-5u4e00q6 2236 33 cause cause VB cord-014712-5u4e00q6 2236 34 CMC CMC NNP cord-014712-5u4e00q6 2236 35 . . . cord-014712-5u4e00q6 2237 1 We -PRON- PRP cord-014712-5u4e00q6 2237 2 report report VBP cord-014712-5u4e00q6 2237 3 here here RB cord-014712-5u4e00q6 2237 4 a a DT cord-014712-5u4e00q6 2237 5 3 3 CD cord-014712-5u4e00q6 2237 6 years year NNS cord-014712-5u4e00q6 2237 7 old old JJ cord-014712-5u4e00q6 2237 8 boy boy NN cord-014712-5u4e00q6 2237 9 , , , cord-014712-5u4e00q6 2237 10 born bear VBN cord-014712-5u4e00q6 2237 11 to to IN cord-014712-5u4e00q6 2237 12 consaginous consaginous JJ cord-014712-5u4e00q6 2237 13 parents parent NNS cord-014712-5u4e00q6 2237 14 with with IN cord-014712-5u4e00q6 2237 15 onicomycosis onicomycosis NNP cord-014712-5u4e00q6 2237 16 , , , cord-014712-5u4e00q6 2237 17 moniliasis moniliasis NNP cord-014712-5u4e00q6 2237 18 , , , cord-014712-5u4e00q6 2237 19 recurrent recurrent JJ cord-014712-5u4e00q6 2237 20 pneumonia pneumonia NN cord-014712-5u4e00q6 2237 21 , , , cord-014712-5u4e00q6 2237 22 recurrent recurrent JJ cord-014712-5u4e00q6 2237 23 herpetic herpetic JJ cord-014712-5u4e00q6 2237 24 lesions lesion NNS cord-014712-5u4e00q6 2237 25 , , , cord-014712-5u4e00q6 2237 26 autoimmune autoimmune JJ cord-014712-5u4e00q6 2237 27 thyroiditis thyroiditis NN cord-014712-5u4e00q6 2237 28 and and CC cord-014712-5u4e00q6 2237 29 trombocytopenia trombocytopenia NNP cord-014712-5u4e00q6 2237 30 . . . cord-014712-5u4e00q6 2238 1 Last last JJ cord-014712-5u4e00q6 2238 2 admission admission NN cord-014712-5u4e00q6 2238 3 was be VBD cord-014712-5u4e00q6 2238 4 due due JJ cord-014712-5u4e00q6 2238 5 to to IN cord-014712-5u4e00q6 2238 6 generalized generalized JJ cord-014712-5u4e00q6 2238 7 tonic tonic JJ cord-014712-5u4e00q6 2238 8 - - HYPH cord-014712-5u4e00q6 2238 9 clonic clonic JJ cord-014712-5u4e00q6 2238 10 convulsion convulsion NN cord-014712-5u4e00q6 2238 11 and and CC cord-014712-5u4e00q6 2238 12 mycotic mycotic JJ cord-014712-5u4e00q6 2238 13 aneurism aneurism NN cord-014712-5u4e00q6 2238 14 on on IN cord-014712-5u4e00q6 2238 15 middle middle JJ cord-014712-5u4e00q6 2238 16 cerebral cerebral JJ cord-014712-5u4e00q6 2238 17 artery artery NN cord-014712-5u4e00q6 2238 18 was be VBD cord-014712-5u4e00q6 2238 19 detected detect VBN cord-014712-5u4e00q6 2238 20 . . . cord-014712-5u4e00q6 2239 1 Flow flow NN cord-014712-5u4e00q6 2239 2 cytometry cytometry NN cord-014712-5u4e00q6 2239 3 revealed reveal VBD cord-014712-5u4e00q6 2239 4 CD4 CD4 NNP cord-014712-5u4e00q6 2239 5 lymphopenia lymphopenia NNP cord-014712-5u4e00q6 2239 6 , , , cord-014712-5u4e00q6 2239 7 immunoglobulin immunoglobulin NN cord-014712-5u4e00q6 2239 8 values value NNS cord-014712-5u4e00q6 2239 9 were be VBD cord-014712-5u4e00q6 2239 10 in in IN cord-014712-5u4e00q6 2239 11 normal normal JJ cord-014712-5u4e00q6 2239 12 range range NN cord-014712-5u4e00q6 2239 13 . . . cord-014712-5u4e00q6 2240 1 Polymorphism polymorphism NN cord-014712-5u4e00q6 2240 2 on on IN cord-014712-5u4e00q6 2240 3 exon exon NN cord-014712-5u4e00q6 2240 4 6 6 CD cord-014712-5u4e00q6 2240 5 for for IN cord-014712-5u4e00q6 2240 6 AIRE AIRE NNP cord-014712-5u4e00q6 2240 7 gene gene NN cord-014712-5u4e00q6 2240 8 ( ( -LRB- cord-014712-5u4e00q6 2240 9 T T NNP cord-014712-5u4e00q6 2240 10 / / SYM cord-014712-5u4e00q6 2240 11 C C NNP cord-014712-5u4e00q6 2240 12 heterozygot heterozygot NN cord-014712-5u4e00q6 2240 13 G227 G227 NNP cord-014712-5u4e00q6 2240 14 G G NNP cord-014712-5u4e00q6 2240 15 ) ) -RRB- cord-014712-5u4e00q6 2240 16 and and CC cord-014712-5u4e00q6 2240 17 heterozygot heterozygot NNP cord-014712-5u4e00q6 2240 18 STAT1 STAT1 NNP cord-014712-5u4e00q6 2240 19 mutation mutation NN cord-014712-5u4e00q6 2240 20 ( ( -LRB- cord-014712-5u4e00q6 2240 21 c.501 c.501 NNP cord-014712-5u4e00q6 2240 22 > > XX cord-014712-5u4e00q6 2241 1 A a LS cord-014712-5u4e00q6 2241 2 ; ; : cord-014712-5u4e00q6 2241 3 Q167H q167h ADD cord-014712-5u4e00q6 2241 4 ) ) -RRB- cord-014712-5u4e00q6 2241 5 were be VBD cord-014712-5u4e00q6 2241 6 detected detect VBN cord-014712-5u4e00q6 2241 7 . . . cord-014712-5u4e00q6 2242 1 Various various JJ cord-014712-5u4e00q6 2242 2 STAT1 stat1 NN cord-014712-5u4e00q6 2242 3 GOF GOF NNP cord-014712-5u4e00q6 2242 4 mutations mutation NNS cord-014712-5u4e00q6 2242 5 ( ( -LRB- cord-014712-5u4e00q6 2242 6 affecting affect VBG cord-014712-5u4e00q6 2242 7 the the DT cord-014712-5u4e00q6 2242 8 Coiled coil VBN cord-014712-5u4e00q6 2242 9 - - HYPH cord-014712-5u4e00q6 2242 10 coin coin NN cord-014712-5u4e00q6 2242 11 domain domain NN cord-014712-5u4e00q6 2242 12 or or CC cord-014712-5u4e00q6 2242 13 the the DT cord-014712-5u4e00q6 2242 14 DNA dna NN cord-014712-5u4e00q6 2242 15 - - HYPH cord-014712-5u4e00q6 2242 16 binding bind VBG cord-014712-5u4e00q6 2242 17 domain domain NN cord-014712-5u4e00q6 2242 18 ) ) -RRB- cord-014712-5u4e00q6 2242 19 have have VBP cord-014712-5u4e00q6 2242 20 been be VBN cord-014712-5u4e00q6 2242 21 systematically systematically RB cord-014712-5u4e00q6 2242 22 associated associate VBN cord-014712-5u4e00q6 2242 23 with with IN cord-014712-5u4e00q6 2242 24 susceptibility susceptibility NN cord-014712-5u4e00q6 2242 25 to to IN cord-014712-5u4e00q6 2242 26 CMC CMC NNP cord-014712-5u4e00q6 2242 27 . . . cord-014712-5u4e00q6 2243 1 Autoimmune autoimmune JJ cord-014712-5u4e00q6 2243 2 manifestations manifestation NNS cord-014712-5u4e00q6 2243 3 associated associate VBN cord-014712-5u4e00q6 2243 4 with with IN cord-014712-5u4e00q6 2243 5 STAT-1 STAT-1 NNS cord-014712-5u4e00q6 2243 6 mutations mutation NNS cord-014712-5u4e00q6 2243 7 have have VBP cord-014712-5u4e00q6 2243 8 been be VBN cord-014712-5u4e00q6 2243 9 attributed attribute VBN cord-014712-5u4e00q6 2243 10 to to IN cord-014712-5u4e00q6 2243 11 increased increase VBN cord-014712-5u4e00q6 2243 12 type type NN cord-014712-5u4e00q6 2243 13 1 1 CD cord-014712-5u4e00q6 2243 14 interferon interferon NN cord-014712-5u4e00q6 2243 15 . . . cord-014712-5u4e00q6 2244 1 The the DT cord-014712-5u4e00q6 2244 2 aneurism aneurism NN cord-014712-5u4e00q6 2244 3 formation formation NN cord-014712-5u4e00q6 2244 4 is be VBZ cord-014712-5u4e00q6 2244 5 not not RB cord-014712-5u4e00q6 2244 6 elucidated elucidate VBN cord-014712-5u4e00q6 2244 7 whether whether IN cord-014712-5u4e00q6 2244 8 it -PRON- PRP cord-014712-5u4e00q6 2244 9 's be VBZ cord-014712-5u4e00q6 2244 10 due due JJ cord-014712-5u4e00q6 2244 11 to to IN cord-014712-5u4e00q6 2244 12 Candida candida NN cord-014712-5u4e00q6 2244 13 infection infection NN cord-014712-5u4e00q6 2244 14 or or CC cord-014712-5u4e00q6 2244 15 vascular vascular JJ cord-014712-5u4e00q6 2244 16 damage damage NN cord-014712-5u4e00q6 2244 17 directly directly RB cord-014712-5u4e00q6 2244 18 affected affect VBN cord-014712-5u4e00q6 2244 19 by by IN cord-014712-5u4e00q6 2244 20 STAT-1 stat-1 NN cord-014712-5u4e00q6 2244 21 mutation mutation NN cord-014712-5u4e00q6 2244 22 . . . cord-014712-5u4e00q6 2245 1 Purpose purpose NN cord-014712-5u4e00q6 2245 2 : : : cord-014712-5u4e00q6 2245 3 Chronic chronic JJ cord-014712-5u4e00q6 2245 4 granulomatous granulomatous JJ cord-014712-5u4e00q6 2245 5 disease disease NN cord-014712-5u4e00q6 2245 6 ( ( -LRB- cord-014712-5u4e00q6 2245 7 CGD CGD NNP cord-014712-5u4e00q6 2245 8 ) ) -RRB- cord-014712-5u4e00q6 2245 9 is be VBZ cord-014712-5u4e00q6 2245 10 a a DT cord-014712-5u4e00q6 2245 11 rare rare JJ cord-014712-5u4e00q6 2245 12 genetic genetic JJ cord-014712-5u4e00q6 2245 13 disease disease NN cord-014712-5u4e00q6 2245 14 of of IN cord-014712-5u4e00q6 2245 15 phagocytic phagocytic JJ cord-014712-5u4e00q6 2245 16 system system NN cord-014712-5u4e00q6 2245 17 . . . cord-014712-5u4e00q6 2246 1 Affected affected JJ cord-014712-5u4e00q6 2246 2 patients patient NNS cord-014712-5u4e00q6 2246 3 commonly commonly RB cord-014712-5u4e00q6 2246 4 present present JJ cord-014712-5u4e00q6 2246 5 with with IN cord-014712-5u4e00q6 2246 6 bacterial bacterial JJ cord-014712-5u4e00q6 2246 7 infections infection NNS cord-014712-5u4e00q6 2246 8 associated associate VBN cord-014712-5u4e00q6 2246 9 with with IN cord-014712-5u4e00q6 2246 10 pneumonia pneumonia NN cord-014712-5u4e00q6 2246 11 , , , cord-014712-5u4e00q6 2246 12 abscesses abscess NNS cord-014712-5u4e00q6 2246 13 and and CC cord-014712-5u4e00q6 2246 14 lymphadenitis lymphadenitis NNP cord-014712-5u4e00q6 2246 15 . . . cord-014712-5u4e00q6 2247 1 In in IN cord-014712-5u4e00q6 2247 2 this this DT cord-014712-5u4e00q6 2247 3 study study NN cord-014712-5u4e00q6 2247 4 , , , cord-014712-5u4e00q6 2247 5 we -PRON- PRP cord-014712-5u4e00q6 2247 6 investigated investigate VBD cord-014712-5u4e00q6 2247 7 the the DT cord-014712-5u4e00q6 2247 8 clinical clinical JJ cord-014712-5u4e00q6 2247 9 and and CC cord-014712-5u4e00q6 2247 10 laboratory laboratory NN cord-014712-5u4e00q6 2247 11 findings finding NNS cord-014712-5u4e00q6 2247 12 of of IN cord-014712-5u4e00q6 2247 13 our -PRON- PRP$ cord-014712-5u4e00q6 2247 14 CGD CGD NNP cord-014712-5u4e00q6 2247 15 patients patient NNS cord-014712-5u4e00q6 2247 16 . . . cord-014712-5u4e00q6 2248 1 Materials material NNS cord-014712-5u4e00q6 2248 2 and and CC cord-014712-5u4e00q6 2248 3 Methods method NNS cord-014712-5u4e00q6 2248 4 : : : cord-014712-5u4e00q6 2248 5 The the DT cord-014712-5u4e00q6 2248 6 demographic demographic JJ cord-014712-5u4e00q6 2248 7 data data NN cord-014712-5u4e00q6 2248 8 ( ( -LRB- cord-014712-5u4e00q6 2248 9 age age NN cord-014712-5u4e00q6 2248 10 at at IN cord-014712-5u4e00q6 2248 11 diagnosis diagnosis NN cord-014712-5u4e00q6 2248 12 , , , cord-014712-5u4e00q6 2248 13 initial initial JJ cord-014712-5u4e00q6 2248 14 presenting present VBG cord-014712-5u4e00q6 2248 15 symptoms symptom NNS cord-014712-5u4e00q6 2248 16 , , , cord-014712-5u4e00q6 2248 17 family family NN cord-014712-5u4e00q6 2248 18 history history NN cord-014712-5u4e00q6 2248 19 , , , cord-014712-5u4e00q6 2248 20 follow follow NN cord-014712-5u4e00q6 2248 21 - - HYPH cord-014712-5u4e00q6 2248 22 up up NN cord-014712-5u4e00q6 2248 23 period period NN cord-014712-5u4e00q6 2248 24 ) ) -RRB- cord-014712-5u4e00q6 2248 25 , , , cord-014712-5u4e00q6 2248 26 mutation mutation NN cord-014712-5u4e00q6 2248 27 analysis analysis NN cord-014712-5u4e00q6 2248 28 , , , cord-014712-5u4e00q6 2248 29 therapy therapy NN cord-014712-5u4e00q6 2248 30 options option NNS cord-014712-5u4e00q6 2248 31 , , , cord-014712-5u4e00q6 2248 32 complications complication NNS cord-014712-5u4e00q6 2248 33 , , , cord-014712-5u4e00q6 2248 34 radiological radiological JJ cord-014712-5u4e00q6 2248 35 findings finding NNS cord-014712-5u4e00q6 2248 36 and and CC cord-014712-5u4e00q6 2248 37 prognosis prognosis NN cord-014712-5u4e00q6 2248 38 were be VBD cord-014712-5u4e00q6 2248 39 evaluated evaluate VBN cord-014712-5u4e00q6 2248 40 retrospectively retrospectively RB cord-014712-5u4e00q6 2248 41 . . . cord-014712-5u4e00q6 2249 1 Results result NNS cord-014712-5u4e00q6 2249 2 : : : cord-014712-5u4e00q6 2250 1 Among among IN cord-014712-5u4e00q6 2250 2 9 9 CD cord-014712-5u4e00q6 2250 3 CGD CGD NNP cord-014712-5u4e00q6 2250 4 patients patient NNS cord-014712-5u4e00q6 2250 5 , , , cord-014712-5u4e00q6 2250 6 autosomal autosomal JJ cord-014712-5u4e00q6 2250 7 recessive recessive JJ cord-014712-5u4e00q6 2250 8 form form NN cord-014712-5u4e00q6 2250 9 was be VBD cord-014712-5u4e00q6 2250 10 detected detect VBN cord-014712-5u4e00q6 2250 11 in in IN cord-014712-5u4e00q6 2250 12 4 4 CD cord-014712-5u4e00q6 2250 13 of of IN cord-014712-5u4e00q6 2250 14 them -PRON- PRP cord-014712-5u4e00q6 2250 15 . . . cord-014712-5u4e00q6 2251 1 The the DT cord-014712-5u4e00q6 2251 2 age age NN cord-014712-5u4e00q6 2251 3 at at IN cord-014712-5u4e00q6 2251 4 onset onset NN cord-014712-5u4e00q6 2251 5 was be VBD cord-014712-5u4e00q6 2251 6 statistically statistically RB cord-014712-5u4e00q6 2251 7 lower low JJR cord-014712-5u4e00q6 2251 8 in in IN cord-014712-5u4e00q6 2251 9 X X NNP cord-014712-5u4e00q6 2251 10 ' ' '' cord-014712-5u4e00q6 2251 11 linked link VBN cord-014712-5u4e00q6 2251 12 CGD CGD NNP cord-014712-5u4e00q6 2251 13 patients patient NNS cord-014712-5u4e00q6 2251 14 than than IN cord-014712-5u4e00q6 2251 15 AR AR NNP cord-014712-5u4e00q6 2251 16 form form NN cord-014712-5u4e00q6 2251 17 ( ( -LRB- cord-014712-5u4e00q6 2251 18 11.2 11.2 CD cord-014712-5u4e00q6 2251 19 ± ± NNP cord-014712-5u4e00q6 2251 20 7.6 7.6 CD cord-014712-5u4e00q6 2251 21 mo mo NN cord-014712-5u4e00q6 2251 22 vs vs IN cord-014712-5u4e00q6 2251 23 43.5 43.5 CD cord-014712-5u4e00q6 2251 24 ± ± CD cord-014712-5u4e00q6 2251 25 21.5 21.5 CD cord-014712-5u4e00q6 2251 26 mo mo NN cord-014712-5u4e00q6 2251 27 ; ; : cord-014712-5u4e00q6 2251 28 p p NN cord-014712-5u4e00q6 2251 29 = = SYM cord-014712-5u4e00q6 2251 30 0.001).Respiratory 0.001).respiratory CD cord-014712-5u4e00q6 2251 31 tract tract NN cord-014712-5u4e00q6 2251 32 infections infection NNS cord-014712-5u4e00q6 2251 33 ( ( -LRB- cord-014712-5u4e00q6 2251 34 sinusitis sinusitis NN cord-014712-5u4e00q6 2251 35 , , , cord-014712-5u4e00q6 2251 36 otitis otitis NN cord-014712-5u4e00q6 2251 37 , , , cord-014712-5u4e00q6 2251 38 pneumonia pneumonia NN cord-014712-5u4e00q6 2251 39 ) ) -RRB- cord-014712-5u4e00q6 2251 40 and and CC cord-014712-5u4e00q6 2251 41 recurrent recurrent JJ cord-014712-5u4e00q6 2251 42 abscesses abscess NNS cord-014712-5u4e00q6 2251 43 were be VBD cord-014712-5u4e00q6 2251 44 more more RBR cord-014712-5u4e00q6 2251 45 commonly commonly RB cord-014712-5u4e00q6 2251 46 seen see VBN cord-014712-5u4e00q6 2251 47 at at IN cord-014712-5u4e00q6 2251 48 onset onset NN cord-014712-5u4e00q6 2251 49 . . . cord-014712-5u4e00q6 2252 1 Microbiological microbiological JJ cord-014712-5u4e00q6 2252 2 culture culture NN cord-014712-5u4e00q6 2252 3 revealed reveal VBD cord-014712-5u4e00q6 2252 4 A. A. NNP cord-014712-5u4e00q6 2252 5 fumigates fumigate NNS cord-014712-5u4e00q6 2252 6 from from IN cord-014712-5u4e00q6 2252 7 lung lung NN cord-014712-5u4e00q6 2252 8 biopsy biopsy NN cord-014712-5u4e00q6 2252 9 in in IN cord-014712-5u4e00q6 2252 10 one one CD cord-014712-5u4e00q6 2252 11 patient patient NN cord-014712-5u4e00q6 2252 12 and and CC cord-014712-5u4e00q6 2252 13 S.marcescens s.marcescen NNS cord-014712-5u4e00q6 2252 14 from from IN cord-014712-5u4e00q6 2252 15 blood blood NN cord-014712-5u4e00q6 2252 16 specimen specimen NN cord-014712-5u4e00q6 2252 17 in in IN cord-014712-5u4e00q6 2252 18 other other JJ cord-014712-5u4e00q6 2252 19 ones one NNS cord-014712-5u4e00q6 2252 20 . . . cord-014712-5u4e00q6 2253 1 BCGitis BCGitis NNP cord-014712-5u4e00q6 2253 2 was be VBD cord-014712-5u4e00q6 2253 3 observed observe VBN cord-014712-5u4e00q6 2253 4 in in IN cord-014712-5u4e00q6 2253 5 one one CD cord-014712-5u4e00q6 2253 6 patient patient NN cord-014712-5u4e00q6 2253 7 and and CC cord-014712-5u4e00q6 2253 8 five five CD cord-014712-5u4e00q6 2253 9 patients patient NNS cord-014712-5u4e00q6 2253 10 received receive VBD cord-014712-5u4e00q6 2253 11 anti anti JJ cord-014712-5u4e00q6 2253 12 - - JJ cord-014712-5u4e00q6 2253 13 TB tb JJ cord-014712-5u4e00q6 2253 14 therapy therapy NN cord-014712-5u4e00q6 2253 15 . . . cord-014712-5u4e00q6 2254 1 Non non JJ cord-014712-5u4e00q6 2254 2 - - JJ cord-014712-5u4e00q6 2254 3 infectious infectious JJ cord-014712-5u4e00q6 2254 4 complications complication NNS cord-014712-5u4e00q6 2254 5 were be VBD cord-014712-5u4e00q6 2254 6 granulomatous granulomatous JJ cord-014712-5u4e00q6 2254 7 uveitis uveitis NN cord-014712-5u4e00q6 2254 8 , , , cord-014712-5u4e00q6 2254 9 recurrent recurrent JJ cord-014712-5u4e00q6 2254 10 pericardial pericardial JJ cord-014712-5u4e00q6 2254 11 effusion effusion NN cord-014712-5u4e00q6 2254 12 , , , cord-014712-5u4e00q6 2254 13 skin skin NN cord-014712-5u4e00q6 2254 14 granuloma granuloma NN cord-014712-5u4e00q6 2254 15 , , , cord-014712-5u4e00q6 2254 16 noduler noduler NNP cord-014712-5u4e00q6 2254 17 formation formation NN cord-014712-5u4e00q6 2254 18 in in IN cord-014712-5u4e00q6 2254 19 lung lung NN cord-014712-5u4e00q6 2254 20 and and CC cord-014712-5u4e00q6 2254 21 brain brain NN cord-014712-5u4e00q6 2254 22 area area NN cord-014712-5u4e00q6 2254 23 . . . cord-014712-5u4e00q6 2255 1 Conclusion conclusion NN cord-014712-5u4e00q6 2255 2 : : : cord-014712-5u4e00q6 2255 3 Due due IN cord-014712-5u4e00q6 2255 4 to to IN cord-014712-5u4e00q6 2255 5 high high JJ cord-014712-5u4e00q6 2255 6 rate rate NN cord-014712-5u4e00q6 2255 7 of of IN cord-014712-5u4e00q6 2255 8 consanguinity consanguinity NN cord-014712-5u4e00q6 2255 9 , , , cord-014712-5u4e00q6 2255 10 autosomal autosomal JJ cord-014712-5u4e00q6 2255 11 recessive recessive JJ cord-014712-5u4e00q6 2255 12 inheritance inheritance NN cord-014712-5u4e00q6 2255 13 was be VBD cord-014712-5u4e00q6 2255 14 observed observe VBN cord-014712-5u4e00q6 2255 15 highly highly RB cord-014712-5u4e00q6 2255 16 in in IN cord-014712-5u4e00q6 2255 17 our -PRON- PRP$ cord-014712-5u4e00q6 2255 18 patient patient JJ cord-014712-5u4e00q6 2255 19 cohort cohort NN cord-014712-5u4e00q6 2255 20 . . . cord-014712-5u4e00q6 2256 1 Since since IN cord-014712-5u4e00q6 2256 2 , , , cord-014712-5u4e00q6 2256 3 patients patient NNS cord-014712-5u4e00q6 2256 4 with with IN cord-014712-5u4e00q6 2256 5 CGD CGD NNP cord-014712-5u4e00q6 2256 6 are be VBP cord-014712-5u4e00q6 2256 7 susceptible susceptible JJ cord-014712-5u4e00q6 2256 8 to to IN cord-014712-5u4e00q6 2256 9 Tuberculosis Tuberculosis NNP cord-014712-5u4e00q6 2256 10 and and CC cord-014712-5u4e00q6 2256 11 BCG BCG NNP cord-014712-5u4e00q6 2256 12 complications complication NNS cord-014712-5u4e00q6 2256 13 ; ; : cord-014712-5u4e00q6 2256 14 initiation initiation NN cord-014712-5u4e00q6 2256 15 of of IN cord-014712-5u4e00q6 2256 16 tuberculosis tuberculosis NN cord-014712-5u4e00q6 2256 17 prophylaxis prophylaxis NN cord-014712-5u4e00q6 2256 18 is be VBZ cord-014712-5u4e00q6 2256 19 advisable advisable JJ cord-014712-5u4e00q6 2256 20 in in IN cord-014712-5u4e00q6 2256 21 countries country NNS cord-014712-5u4e00q6 2256 22 where where WRB cord-014712-5u4e00q6 2256 23 BCG BCG NNP cord-014712-5u4e00q6 2256 24 is be VBZ cord-014712-5u4e00q6 2256 25 still still RB cord-014712-5u4e00q6 2256 26 administrated administrate VBN cord-014712-5u4e00q6 2256 27 at at IN cord-014712-5u4e00q6 2256 28 birth birth NN cord-014712-5u4e00q6 2256 29 . . . cord-014712-5u4e00q6 2257 1 Key key JJ cord-014712-5u4e00q6 2257 2 words word NNS cord-014712-5u4e00q6 2257 3 : : : cord-014712-5u4e00q6 2257 4 Chronic chronic JJ cord-014712-5u4e00q6 2257 5 granulomatous granulomatous JJ cord-014712-5u4e00q6 2257 6 disease disease NN cord-014712-5u4e00q6 2257 7 , , , cord-014712-5u4e00q6 2257 8 consanguinity consanguinity NN cord-014712-5u4e00q6 2257 9 , , , cord-014712-5u4e00q6 2257 10 BCG BCG NNP cord-014712-5u4e00q6 2257 11 . . . cord-014712-5u4e00q6 2258 1 Acquired Acquired NNP cord-014712-5u4e00q6 2258 2 Immunodeficiency Immunodeficiency NNP cord-014712-5u4e00q6 2258 3 Research Research NNP cord-014712-5u4e00q6 2258 4 Center Center NNP cord-014712-5u4e00q6 2258 5 , , , cord-014712-5u4e00q6 2258 6 Isfahan Isfahan NNP cord-014712-5u4e00q6 2258 7 University University NNP cord-014712-5u4e00q6 2258 8 of of IN cord-014712-5u4e00q6 2258 9 Medical Medical NNP cord-014712-5u4e00q6 2258 10 Sciences Sciences NNPS cord-014712-5u4e00q6 2258 11 , , , cord-014712-5u4e00q6 2258 12 Isfahan Isfahan NNP cord-014712-5u4e00q6 2258 13 , , , cord-014712-5u4e00q6 2258 14 IranBackground IranBackground NNP cord-014712-5u4e00q6 2258 15 : : : cord-014712-5u4e00q6 2259 1 Defects defect NNS cord-014712-5u4e00q6 2259 2 of of IN cord-014712-5u4e00q6 2259 3 the the DT cord-014712-5u4e00q6 2259 4 immune immune JJ cord-014712-5u4e00q6 2259 5 system system NN cord-014712-5u4e00q6 2259 6 in in IN cord-014712-5u4e00q6 2259 7 Primary primary JJ cord-014712-5u4e00q6 2259 8 immunodeficient immunodeficient JJ cord-014712-5u4e00q6 2259 9 diseases disease NNS cord-014712-5u4e00q6 2259 10 ( ( -LRB- cord-014712-5u4e00q6 2259 11 PIDs pid NNS cord-014712-5u4e00q6 2259 12 ) ) -RRB- cord-014712-5u4e00q6 2259 13 predispose predispose VB cord-014712-5u4e00q6 2259 14 individuals individual NNS cord-014712-5u4e00q6 2259 15 to to IN cord-014712-5u4e00q6 2259 16 recurrent recurrent JJ cord-014712-5u4e00q6 2259 17 infections infection NNS cord-014712-5u4e00q6 2259 18 . . . cord-014712-5u4e00q6 2260 1 Complex complex JJ cord-014712-5u4e00q6 2260 2 genetic genetic JJ cord-014712-5u4e00q6 2260 3 components component NNS cord-014712-5u4e00q6 2260 4 for for IN cord-014712-5u4e00q6 2260 5 susceptibility susceptibility NN cord-014712-5u4e00q6 2260 6 to to IN cord-014712-5u4e00q6 2260 7 mycobacterial mycobacterial NNP cord-014712-5u4e00q6 2260 8 disease disease NNP cord-014712-5u4e00q6 2260 9 have have VBP cord-014712-5u4e00q6 2260 10 been be VBN cord-014712-5u4e00q6 2260 11 suggested suggest VBN cord-014712-5u4e00q6 2260 12 . . . cord-014712-5u4e00q6 2261 1 Natural natural JJ cord-014712-5u4e00q6 2261 2 human human JJ cord-014712-5u4e00q6 2261 3 immunity immunity NN cord-014712-5u4e00q6 2261 4 to to IN cord-014712-5u4e00q6 2261 5 the the DT cord-014712-5u4e00q6 2261 6 mycobacteria mycobacterium NNS cord-014712-5u4e00q6 2261 7 group group NN cord-014712-5u4e00q6 2261 8 , , , cord-014712-5u4e00q6 2261 9 including include VBG cord-014712-5u4e00q6 2261 10 Mycobacterium Mycobacterium NNP cord-014712-5u4e00q6 2261 11 tuberculosis(MTB tuberculosis(MTB NNP cord-014712-5u4e00q6 2261 12 ) ) -RRB- cord-014712-5u4e00q6 2261 13 , , , cord-014712-5u4e00q6 2261 14 Bacille Bacille NNP cord-014712-5u4e00q6 2261 15 Calmette Calmette NNP cord-014712-5u4e00q6 2261 16 - - HYPH cord-014712-5u4e00q6 2261 17 Guérin Guérin NNP cord-014712-5u4e00q6 2261 18 ( ( -LRB- cord-014712-5u4e00q6 2261 19 BCG BCG NNP cord-014712-5u4e00q6 2261 20 ) ) -RRB- cord-014712-5u4e00q6 2261 21 or or CC cord-014712-5u4e00q6 2261 22 nontuberculous nontuberculous JJ cord-014712-5u4e00q6 2261 23 mycobacteria mycobacterium NNS cord-014712-5u4e00q6 2261 24 ( ( -LRB- cord-014712-5u4e00q6 2261 25 NTM NTM NNP cord-014712-5u4e00q6 2261 26 ) ) -RRB- cord-014712-5u4e00q6 2261 27 relies rely VBZ cord-014712-5u4e00q6 2261 28 on on IN cord-014712-5u4e00q6 2261 29 the the DT cord-014712-5u4e00q6 2261 30 functional functional JJ cord-014712-5u4e00q6 2261 31 IL-12/23-IFN il-12/23-ifn NN cord-014712-5u4e00q6 2261 32 - - HYPH cord-014712-5u4e00q6 2261 33 γ γ NN cord-014712-5u4e00q6 2261 34 integrity integrity NN cord-014712-5u4e00q6 2261 35 of of IN cord-014712-5u4e00q6 2261 36 macrophages macrophage NNS cord-014712-5u4e00q6 2261 37 ( ( -LRB- cord-014712-5u4e00q6 2261 38 monocyte monocyte NNP cord-014712-5u4e00q6 2261 39 / / SYM cord-014712-5u4e00q6 2261 40 dendritic dendritic JJ cord-014712-5u4e00q6 2261 41 cell cell NN cord-014712-5u4e00q6 2261 42 ) ) -RRB- cord-014712-5u4e00q6 2261 43 connecting connect VBG cord-014712-5u4e00q6 2261 44 to to IN