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

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

  • Nat Genet. 2001 Jan;27(1):20-1. doi: 10.1038/83713.
C L Bennett 1,  J Christie,  F Ramsdell,  M E Brunkow,  P J Ferguson,  L Whitesell,  T E Kelly,  F T Saulsbury,  P F Chance,  H D Ochs
Affiliations

Affiliation

  • 1 Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, USA.
PMID: 11137993 DOI: 10.1038/83713
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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