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

CL Bennett, J Christie, F Ramsdell, ME Brunkow… - Nature …, 2001 - nature.com
CL Bennett, J Christie, F Ramsdell, ME Brunkow, PJ Ferguson, L Whitesell, TE Kelly…
Nature genetics, 2001nature.com
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
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).
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