Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome

被引：53

作者：

Kisand, Kai ^{[1
]}

Peterson, Paet ^{[1
]}

机构：

[1] Univ Tartu, Inst Gen & Mol Pathol, EE-50411 Tartu, Estonia

来源：

YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY II | 2011年 / 1246卷

关键词：

APECED; AIRE; chronic mucocutaneous candidiasis; IL-17; IL-22; SYNDROME TYPE-I; CHRONIC MUCOCUTANEOUS CANDIDIASIS; POLYGLANDULAR SYNDROME TYPE-1; AMINO-ACID DECARBOXYLASE; AIRE GENE-MUTATIONS; ADDISONS-DISEASE; REGULATOR GENE; APS-I; MYASTHENIA-GRAVIS; INTERFERON-OMEGA;

D O I：

10.1111/j.1749-6632.2011.06308.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a monogenic autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene and, as a syndrome, is characterized by chronic mucocutaneous candidiasis and the presentation of various autoimmune diseases. During the last decade, research on APECED and AIRE has provided immunologists with several invaluable lessons regarding tolerance and autoimmunity. This review describes the clinical and immunological features of APECED and discusses emerging alternative models to explain the pathogenesis of the disease.

引用

页码：77 / 91

页数：15

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