Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome
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DOI：
10.1111/j.1749-6632.2011.06308.x
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发表时间：
2011-01-01
期刊：
影响因子：
--
通讯作者：
Peterson, Paet
中科院分区：
文献类型：
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作者：
Kisand, Kai;Peterson, Paet
自身免疫性多内分泌病变念珠菌病外胚层营养不良（APECED）是一种由自身免疫调节（AIRE）基因突变引起的单基因常染色体隐性疾病，作为一种综合征，其特征是慢性皮肤粘膜念珠菌病和各种自身免疫性疾病的表现。在过去的十年中，对APECED和AIRE的研究为免疫学家提供了一些关于耐受性和自身免疫的宝贵经验。本文综述了APECED的临床和免疫学特征，并讨论了解释该疾病发病机制的新模型。
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.