期刊
JOURNAL OF AUTOIMMUNITY
卷 25, 期 -, 页码 56-62出版社
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.jaut.2005.04.008
关键词
cell-based therapy; gene therapy; imprinting; T regulatory cells; X inactivation
类别
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare inborn error of immune regulation characterized by the early onset of one or more autoimmune diseases in boys. IPEX is caused by mutations in FOXP3, and is thus the homologue of the scurfy mutant mouse. The gene product, Scurfin, is required for the development of CD4 + CD25 + T regulatory cells. In the absence of T regulatory cells, activated CD4 + T cells instigate multi-organ damage resulting in type 1 diabetes, enteropathy, eczema, hypothyroidism, and other autoimmune disorders. While effective therapies are currently limited, studies in the scurfy mouse are revealing aspects of pathophysiology and genetics that will lead to novel approaches for treating IPEX and other autoimmune disorders. Females carrying Foxp3 mutations are unaffected. In new experiments we show that female scurfy mice that are also heterozygous in trans for the X-linked recessive common gamma chain knockout contract autoimmune disease, proving that murine Foxp3 is subject to X-mactivation and providing an example of gene-gene interaction causing autoimmune disease in females. One explanation for the lesser disease severity in these females is proposed. (c) 2005 Elsevier Ltd. All rights reserved.
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