The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

被引：2544

作者：

Bennett, CL

Christie, J

Ramsdell, F

Brunkow, ME

Ferguson, PJ

Whitesell, L

Kelly, TE

Saulsbury, FT

Chance, PF

Ochs, HD ^{[1
]}

机构：

[1] Univ Washington, Dept Pediat, Div Immunol Infect Dis & Rheumatol, Seattle, WA 98195 USA

[2] Celltech Chirosci Inc, Bothell, WA USA

[3] Univ Washington, Div Genet & Dev, Seattle, WA 98195 USA

[4] Univ Alabama, Dept Pediat, Birmingham, AL USA

[5] Univ Arizona, Steele Mem Childrens Res Ctr, Dept Pediat, Tucson, AZ USA

[6] Univ Virginia, Dept Pediat, Charlottesville, VA USA

来源：

NATURE GENETICS | 2001年 / 27卷 / 01期

关键词：

D O I：

10.1038/83713

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

IPEX is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance (MIM 304930). We present genetic evidence that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome. Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11.23-Xq13.3 (refs. 1,2).

引用

页码：20 / 21

页数：2