期刊
JOURNAL OF AUTOIMMUNITY
卷 25, 期 -, 页码 49-55出版社
ACADEMIC PRESS LTD ELSEVIER SCIENCE LTD
DOI: 10.1016/j.jaut.2005.09.022
关键词
autoimmune endocrinopathy; transgenic animal model; thymus; APECED
类别
资金
- Wellcome Trust Funding Source: Medline
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.
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