Journal article
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
Nature genetics, Vol.27(1), pp.20-21
01/2001
DOI: 10.1038/83713
PMID: 11137993
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).
Details
- Title: Subtitle
- The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
- Creators
- Craig L Bennett - Division of Genetics and DevelopmentJacinda Christie - Division of Immunology, Infectious Disease and Rheumatology, Department of Pediatrics, University of WashingtonFred Ramsdell - Celltech Chiroscience, IncMary E Brunkow - Celltech Chiroscience, IncPolly J Ferguson - University of Iowa, Stead Family Department of PediatricsLuke Whitesell - Department of Pediatrics, Steele Memorial Children's Research Center, University of ArizonaThaddeus E Kelly - Department of Pediatrics, University of VirginiaFrank T Saulsbury - Department of Pediatrics, University of VirginiaPhillip F Chance - Division of Genetics and DevelopmentHans D Ochs - Division of Immunology, Infectious Disease and Rheumatology, Department of Pediatrics, University of Washington
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.27(1), pp.20-21
- DOI
- 10.1038/83713
- PMID
- 11137993
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 01/2001
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Rheumatology, Allergy, and Immunology
- Record Identifier
- 9984065739902771
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