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

Authors
Bennett, CL Christie, J Ramsdell, F Brunkow, ME Ferguson, PJ Whitesell, L Kelly, TE Saulsbury, FT Chance, PF Ochs, HD
Citation
Cl. Bennett et al., The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3, NAT GENET, 27(1), 2001, pp. 20-21
Citations number
10
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
10614036 → ACNP
Volume
27
Issue
1
Year of publication
2001
Pages
20 - 21
Database
ISI
SICI code
1061-4036(200101)27:1<20:TIDPEX>2.0.ZU;2-P
Abstract
IPEX is a fatal disorder characterized by immune dysregulation, polyendocri nopathy, enteropathy and X-linked inheritance (MIM 304930). We present gene tic evidence that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome. Recent l inkage analysis studies mapped the gene mutated in IPEX to an interval of 1 7-20-cM at Xp11.23-Xq13.3 (refs. 1,2).