Nature Genetics
27, 20 - 21 (2001)
doi:10.1038/83713
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3Craig L. Bennett1, 7, Jacinda Christie2, 7, Fred Ramsdell3, Mary E. Brunkow3, Polly J. Ferguson4, Luke Whitesell5, Thaddeus E. Kelly6, Frank T. Saulsbury6, Phillip F. Chance1
& Hans D. Ochs21
Division of Genetics and Development, Seattle, Washington, USA. 2
Division of Immunology, Infectious Disease and Rheumatology, Department of Pediatrics, University of Washington, Seattle, Washington, USA. 3
Celltech Chiroscience, Inc., Bothell, Washington, USA. 4
Department of Pediatrics, University of Alabama, Birmingham, Alabama, USA. 5
Department of Pediatrics, Steele Memorial Children's Research Center, University of Arizona, Tucson, Arizona, USA. 6
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA. 7
These authors contributed equally to this work.
Correspondence should be addressed to Hans D. Ochs allgau@u.washington.eduIPEX 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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