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PMID: 11137993 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Nature genetics ·Vol. 27 ·No. 1 ·2001-01-00 ·Pages 20-1

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

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.

MeSH Terms

Amino Acid Sequence Animals DNA-Binding Proteins/chemistry,genetics,metabolism Female Forkhead Transcription Factors Genetic Linkage/genetics Humans Male Mice Molecular Sequence Data Mutation/genetics Pedigree Phenotype Polyendocrinopathies, Autoimmune/genetics Protein-Losing Enteropathies/genetics Sequence Alignment Syndrome X Chromosome/genetics

Chemicals

DNA-Binding Proteins FOXP3 protein, human Forkhead Transcription Factors Foxp3 protein, mouse

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Bennett C L

Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, USA.

Christie J

Ramsdell F

Brunkow M E

Ferguson P J

Whitesell L

Kelly T E

Saulsbury F T

Chance P F

Ochs H D

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/83713

Published

2001-01-00

Pages

20-1

Language

English

Region

United States

NLM ID

9216904

Subset

Grants

NICHD NIH HHS · HD17427 · United States

External Links

PubMed source DOI: 10.1038/83713 View journal details

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

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