Clinical and molecular findings in IPEX syndrome

AK Myers, L Perroni, C Costigan… - Archives of disease in …, 2006 - adc.bmj.com
AK Myers, L Perroni, C Costigan, W Reardon
Archives of disease in childhood, 2006adc.bmj.com
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 reported.
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 reported.
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