Revista chilena de pediatria

· 1 paper in corpus

2020

[New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - IPEX syndrome].

doi:10.32641/rchped.v91i4.1467 ·PMID:33399737

IntroductionThe IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syn drome is caused by the mutations of the FOXP3 gene, characterized by persistent diarrhea, endo crine disorders, and dermatitis. The treatment is the …