AIRE - The Autoimmune Regulator
AIRE - The Autoimmune Regulator
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AIRE - 自身免疫调节器
DOI：
10.1002/9780470015902.a0027281
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发表时间：
2019
期刊：
影响因子：
--
通讯作者：
Matsumoto Mitsuru
中科院分区：
文献类型：
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作者：
Matsumoto Minoru;Nishijima Hitoshi;Morimoto Junko;Tsuneyama Koichi;Matsumoto Mitsuru
自身免疫性疾病是由针对自身抗原的持续免疫反应引起的，其病因尚不确定。虽然自我耐受性的破坏被认为是疾病过程中的关键事件，但其潜在机制仍然是谜。迄今为止，仅发现了少数与自身免疫性疾病发病机制相关的基因，其中之一是自身免疫调节基因（AIRE），其突变导致自身免疫性多内分泌病-念珠菌病-外胚层营养不良（APECED）的发生，表现为常染色体隐性遗传。AIRE是一种主要由胸腺髓质上皮细胞表达的转录调节因子。阐明AIRE的功能缺陷如何导致器官特异性自身免疫的发展，不仅有望阐明自身免疫性疾病的发病机制，而且有望阐明免疫系统如何在胸腺中区分自我和非自我的根本问题。
Autoimmune diseases, caused by continuous immune responses against self-antigens, have an uncertain aetiology. Although breakdown of self-tolerance is considered to be the key event in the disease process, the underlying mechanisms are still enigmatic. So far, only a small number of genes that seem to be relevant to the pathogenesis of autoimmune diseases have been found. One of these genes is the autoimmune regulator (AIRE), mutation in which is responsible for the development of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) showing autosomal recessive inheritance. AIRE is a transcriptional regulator expressed predominantly by medullary thymic epithelial cells. Elucidation of how defective function of AIRE results in the development of organ-specific autoimmunity is expected to shed light on not only the pathogenesis of autoimmune disease but also the fundamental question of how the immune system is educated to discriminate between self and nonself in the thymus.