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

作者：Kisand Kai^*; Peterson Paet

来源：YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY II , BLACKWELL SCIENCE PUBL, OSNEY MEAD, OXFORD OX2 0EL, ENGLAND, 77-91, 2011.

DOI：10.1111/j.1749-6632.2011.06308.x

• 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.

• 出版日期2011