Literature DB >> 11137993

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

C L Bennett1, J Christie, F Ramsdell, M E Brunkow, P J Ferguson, L Whitesell, T E Kelly, F T Saulsbury, P F Chance, H D Ochs.   

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.

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Year:  2001        PMID： 11137993     DOI： 10.1038/83713

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  1163 in total

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