Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: New views on molecular basis of autoimmunity
Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: New views on molecular basis of autoimmunity
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DOI：
10.1016/j.jaut.2005.09.022
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发表时间：
2005-01-01
影响因子：
12.8
通讯作者：
Peltonen, L
中科院分区：
文献类型：
--
作者：
Peterson, P;Peltonen, L
自身免疫性多内分泌综合征I型(APS1)是由21号染色体AIRE基因缺陷引起的单基因自身免疫综合征。几种自身免疫性疾病发生在APS1患者身上，通常始于生命的头20年。APS1中的一个缺陷基因，自身免疫调节因子(AIRE)，编码参与转录过程的核蛋白。最近在动物模型中的发现表明，AIRE在调节胸腺自身抗原表达方面发挥着关键作用。Aire基因的鉴定，人类APS1分子发病机制的详细描述，以及携带Aire基因靶向阻断的小鼠模型的分析，为我们理解自身免疫的分子背景提供了新的视角。(C)2005爱思唯尔有限公司。保留所有权利。
Autoimmune polyendocrinopathy syndrome type I (APS1) is a monogenic autoimmune syndrome, which is caused by defect in AIRE gene on chromosome 21. Several autoimmune diseases occur in APS1 patients, often starting in first two decades of life. A gene defective in APS1, autoimmune regulator (AIRE), encodes nuclear protein involved in transcriptional processes. Recent findings in animal models indicate a critical role for AIRE in regulation of self-antigen expression in thymus. Identification of the AIRE gene, detailed characterization of molecular pathogenesis of human APS1 as well as analyses of mouse models carrying targeted interruption of Aire gene have provided new views on our Understanding of molecular background of autoimmunity. (c) 2005 Elsevier Ltd. All rights reserved.