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- Title
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
- Authors
Bennett, Craig L.; Christie, Jacinda; Ramsdell, Fred; Brunkow, Mary E.; Ferguson, Polly J.; Whitesell, Luke; Kelly, Thaddeus E.; Saulsbury, Frank T.; Chance, Phillip F.; Ochs, Hans D.
- 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).
- Subjects
GENETIC mutation; IMMUNE response; GENETIC disorders
- Publication
Nature Genetics, 2001, Vol 27, Issue 1, p20
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/83713