期刊
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY II
卷 1246, 期 -, 页码 77-91出版社
BLACKWELL SCIENCE PUBL
DOI: 10.1111/j.1749-6632.2011.06308.x
关键词
APECED; AIRE; chronic mucocutaneous candidiasis; IL-17; IL-22
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.
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