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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-01

AUTHORS

Craig L. Bennett, Jacinda Christie, Fred Ramsdell, Mary E. Brunkow, Polly J. Ferguson, Luke Whitesell, Thaddeus E. Kelly, Frank T. Saulsbury, Phillip F. Chance, Hans D. Ochs

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. More... »

PAGES

ng0101_20

Journal

TITLE

Nature Genetics

ISSUE

1

VOLUME

27

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/83713

DOI

http://dx.doi.org/10.1038/83713

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1005319975

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11137993


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