id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-006464-s8rjoyse	Bauer, Michael	Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome	2015-02-27		.txt	text/plain	5413	279	44	Our data for the first time show systematically that increased susceptibility to infections in MECP2 duplication syndrome is associated with IgA/IgG(2)-deficiency, low antibody titers against pneumococci and elevated acute-phase responses. The single patient who has to date not developed severe infections despite We further investigated whether patients with MECP2 duplication syndrome showed stronger acute phase responses, which we could confirm in 7/10 patients in terms of elevated CRP values above 200 mg/l during non-invasive infections, mainly pneumoniae. In summary we here show for the first time systematically that patients with MECP2 duplication syndrome are at increased risk for in particular non-invasive but also for invasive infections with potentially encapsulated bacteria, that this increased susceptibility to infections may be associated with IgG 2 -subclass deficiency/ low titers against pneumococci and elevated acute-phase responses, while the precise role of T-cell immunity and in particular the extent of impaired IFNγsecretion and its role for the observed infectious phenotype is still to be defined.	./cache/cord-006464-s8rjoyse.txt	./txt/cord-006464-s8rjoyse.txt