The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

被引：110

作者：

d'Hennezel, Eva ^{[1
,2
]}

Bin Dhuban, Khalid ^{[1
,2
]}

Torgerson, Troy ^{[3
]}

Piccirillo, Ciriaco ^{[1
,2
]}

机构：

[1] McGill Univ, Dept Microbiol & Immunol, Montreal, PQ H3G 1A4, Canada

[2] McGill Univ, Ctr Hlth, Res Inst, FOCIS Ctr Excellence, Montreal, PQ H3G 1A4, Canada

[3] Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2012年 / 49卷 / 05期

关键词：

REGULATORY T-CELLS; BONE-MARROW-TRANSPLANTATION; NEONATAL DIABETES-MELLITUS; FOXP3; MUTATIONS; IN-VIVO; AUTOIMMUNE ENTEROPATHY; SUPPRESSIVE FUNCTION; HISTONE ACETYLATION; JAPANESE PATIENTS; FORKHEAD DOMAIN;

D O I：

10.1136/jmedgenet-2012-100759

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome is a rare disorder in humans caused by germ-line mutations in the FOXP3 gene, a master transcriptional regulator for the development of CD4 regulatory T (Treg) cells. This T cell subset has global inhibitory functions that maintain immune homeostasis and mediate self-tolerance. Treg developmental deficiency or dysfunction is a hallmark of IPEX. It leads to severe, multi-organ, autoimmune phenomena including enteropathy, chronic dermatitis, endocrinopathy and other organ-specific diseases such as anaemia, thrombocytopenia, hepatitis and nephritis. In this review, the genetic, immunological and clinical characteristics of IPEX syndrome are described, and the impact of heritable mutations on the function of Treg cells highlighted.

引用

页码：291 / 302

页数：12

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