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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
- Source :
-
Nature Genetics . Jan2001, Vol. 27 Issue 1, p20. 2p. - Publication Year :
- 2001
-
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). [ABSTRACT FROM AUTHOR]
- Subjects :
- *GENETIC mutation
*IMMUNE response
*GENETIC disorders
Subjects
Details
- Language :
- English
- ISSN :
- 10614036
- Volume :
- 27
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Nature Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 8815865
- Full Text :
- https://doi.org/10.1038/83713