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

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 l...

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Veröffentlicht in:	Nature genetics 2001-01, Vol.27 (1), p.20-21
Hauptverfasser:	Ochs, Hans D, Bennett, Craig L, Christie, Jacinda, Ramsdell, Fred, Brunkow, Mary E, Ferguson, Polly J, Whitesell, Luke, Kelly, Thaddeus E, Saulsbury, Frank T, Chance, Phillip F
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Amino acids Animals Biological and medical sciences Complex syndromes Complications and side effects Diagnosis Disease DNA-Binding Proteins - chemistry DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Female Forkhead Transcription Factors FOXP3 gene Gene mutations Genetic aspects Genetic Linkage - genetics Genetics Glaucoma Health sciences Hospitals Humans Identification and classification immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome Immunologic diseases Male Medical genetics Medical sciences Mice Molecular Sequence Data Mutation Mutation - genetics Pedigree Phenotype Polyendocrinopathies, Autoimmune - genetics Protein-Losing Enteropathies - genetics Proteins Publishing Risk factors Sequence Alignment Syndrome Thyroid gland X Chromosome - genetics
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Zusammenfassung:	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).
ISSN:	1061-4036 1546-1718
DOI:	10.1038/83713