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Article

Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.

Italian journal of pediatrics - 18 Oct 2014

Zama Daniele, Cocchi Ilaria, Masetti Riccardo, Specchia Fernando, Alvisi Patrizia, Gambineri Eleonora, Lima Mario, Pession Andrea

Abstract excerpt

The syndrome of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) is a rare disorder caused by mutations in the FOXP3 gene. Diarrhea, diabetes and dermatitis are the hallmark of the disease, with a typical onset within the first months of life. We describe the case of a twelve-year old male affected by a very late-onset IPEX with intractable enteropathy, which markedly improved after starting...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25326164
DOI: 10.1186/s13052-014-0068-4
PMCID: PMC4421998

Genes

FOXP3

Provenance

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