Digestive histopathological presentation of IPEX syndrome
نویسندگان
چکیده
منابع مشابه
IPEX Syndrome, FOXP3 and Cancer.
In this review, we introduce the IPEX syndrome and its relationship with germline mutations of the FOXP3 gene. We then describe the multiple functional roles of FOXP3 in regulatory T cells and epithelial cells as well as in IPEX syndrome and tumor progression. Potential mechanisms of FOXP3 inactivation and transcriptional regulation are discussed with recent advances. Finally, we point out curr...
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A two-month old male infant initially presented with cutaneous candidiasis. He is the second child of nonconsanguineous healthy parents whose first born is a bright six year old school girl. This boy was born at term following an uncomplicated antenatal period with a birth weight of 2.9 kg. He was exclusively breast fed for six months. Initial tests for immunodeficiency including full blood cou...
متن کاملClinical 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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ژورنال
عنوان ژورنال: Modern Pathology
سال: 2008
ISSN: 0893-3952,1530-0285
DOI: 10.1038/modpathol.2008.161