期刊
CURRENT OPINION IN RHEUMATOLOGY
卷 15, 期 4, 页码 430-435出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00002281-200307000-00010
关键词
immune dysfunction; polyenclocrinopathy; enteropathy; autoimmunity; FOXP3; IPEX; Scurfy mouse; CD4(+)CD25(+) regulatory T lymphocytes
类别
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX) is one of a group of clinical syndromes that present with multisystem autoimmune disease suggesting a phenotype of immune dysregulation. Clinically, IPEX manifests most commonly with diarrhea, insulin-dependent diabetes mellitus, thyroid disorders, and eczema. FOXP3, the gene responsible for IPEX, maps to chromosome Xp11.23-Xq13.3 and encodes a putative DNA-binding protein of the forkhead family. Recent data indicate that FOXP3 is expressed primarily in the CD4(+)CD25(+) regulatory T-cell subset, where it may function as a transcriptional repressor and key modulator of regulatory T-cell fate and function. This review describes the clinical features of IPEX and the structure, function, and known mutations of FOXP3 that provide important insights into its role in maintenance of immune homeostasis.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据