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.

Keywords

Immune dysregulationEnteropathyBiologyGeneticsFOXP3Genetic linkageMutationGeneImmunologyImmune systemDiseaseMedicineInternal medicine

MeSH Terms

Amino Acid SequenceAnimalsDNA-Binding ProteinsFemaleForkhead Transcription FactorsGenetic LinkageHumansMaleMiceMolecular Sequence DataMutationPedigreePhenotypePolyendocrinopathiesAutoimmuneProtein-Losing EnteropathiesSequence AlignmentSyndromeX Chromosome

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Publication Info

Year
2001
Type
article
Volume
27
Issue
1
Pages
20-21
Citations
3293
Access
Closed

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Cite This

Craig L. Bennett, Jacinda R. Christie, Fred Ramsdell et al. (2001). The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nature Genetics , 27 (1) , 20-21. https://doi.org/10.1038/83713

Identifiers

DOI
10.1038/83713
PMID
11137993

Data Quality

Data completeness: 81%