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Open Access 01-12-2014 | Case report

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

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

Published in: Italian Journal of Pediatrics | Issue 1/2014

Abstract

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 Sirolimus as second-line treatment. This case suggests that IPEX should always be considered in the differential diagnosis of watery intractable diarrhea, despite its unusual onset.

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Title: Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea
Authors: Daniele Zama
Ilaria Cocchi
Riccardo Masetti
Fernando Specchia
Patrizia Alvisi
Eleonora Gambineri
Mario Lima
Andrea Pession
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2014
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-014-0068-4

At a glance: The STEP trials

Springer Medicine

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

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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