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...
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...
متن کاملIPEX syndrome with membrano-proliferative nephrotic syndrome.
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 کاملIPEX as a Result of Mutations in FOXP3
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in the FOXP3 gene that result in the defective development of CD4+CD25+ regulatory T cells which constitute an important T cell subset involved in immune homeostasis and protection against autoimmunity. Their deficiency is the hallmark of IPEX and leads to severe autoimmune phen...
متن کاملAutonomy for remote sensing - Experiences from the IPEX CubeSat
The Intelligent Payload Experiment (IPEX) is a CubeSat mission to flight validate technologies for onboard instrument processing and autonomous operations for NASA’s Earth Science Technologies Office (ESTO). Specifically IPEX is to demonstrate onboard instrument processing and product generation technologies for the Intelligent Payload Module (IPM) of the proposed Hyperspectral Infra-red Imager...
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ژورنال
عنوان ژورنال: Frontiers in Pediatrics
سال: 2020
ISSN: 2296-2360
DOI: 10.3389/fped.2020.599283