Clinical and molecular findings in IPEX syndrome
نویسندگان
چکیده
منابع مشابه
Clinical and molecular findings in IPEX syndrome.
IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome) is a rare disorder which usually results in death in early infancy or childhood. Clinical awareness remains the cornerstone of diagnosis, and provided that the diagnosis is entertained, mutation analysis for FOXP3 gene mutations can be confirmatory. Two new patients in whom IPEX was diagnosed retrospectively are repo...
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Immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX, OMIM 304790) is a rare, recessive disorder resulting in aggressive autoimmunity and early death. Mutations in FOXP3 have been identified in 13 of 14 patients tested. Research in the mouse model, scurfy, suggests that autoimmunity may stem from a lack of working regulatory T cells. We review published reports regarding the gen...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2005
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.2005.078287