id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_ounhqhfvsnajxm4xotpcesakqm	Naomi J. Lohr	Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease	2010.0	7	.pdf	application/pdf	4171	410	54	Human ITCH E3 Ubiquitin Ligase Deficiency These patients represent the first reported human phenotype associated with ITCH deficiency. ligase Itch cause fatal autoimmune disease characterized by kidneys, and heart.7,8 Our findings have broad implications for the study of autoimmunity in humans and underscore the important role of ubiquitination in the development of other organ systems. failure to thrive, hepatomegaly, splenomegaly, multisystem autoimmune disease, and delayed motor development (Table 1). Clinical and Autoimmune Features Seen in ITCH-Deficient Pa (B) Mid-power view of the liver in another subject with autoimmune hepatitis shows a mixed inflammatory cell infiltrate in the mice, mutations of the E3 ligase Itch cause fatal autoimmune disease characterized by histiocyte and lymphocyte Human ITCH deficiency causes disease beyond the Genetic Mapping and Gene Mutation in ITCH-Deficient Patients Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease	./cache/work_ounhqhfvsnajxm4xotpcesakqm.pdf	./txt/work_ounhqhfvsnajxm4xotpcesakqm.txt