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


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Bennett, CL; Christie, J; Ramsdell, F; Brunkow, ME; Ferguson, PJ; Whitesell, L; Kelly, TE; Saulsbury, FT; Chance, PF; Ochs, HD

Published Date

  • January 2001

Published In

Volume / Issue

  • 27 / 1

Start / End Page

  • 20 - 21

PubMed ID

  • 11137993

Pubmed Central ID

  • 11137993

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/83713


  • eng

Conference Location

  • United States