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| The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 |
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| Author(s): Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD |
| Source: NATURE GENETICS Volume: 27 Issue: 1 Pages: 20-21 Published: JAN 2001 |
| Times Cited: 686 References: 10 |
| Abstract: 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). |
| Document Type: Article |
| Language: English |
| Reprint Address: Ochs, HD (reprint author), Univ Washington, Dept Pediat, Div Immunol Infect Dis & Rheumatol, Seattle, WA 98195 USA |
Addresses:
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 |
| Publisher: NATURE AMERICA INC, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: 388NP |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |