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

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-y...

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Publicat a:Ital J Pediatr
Autors principals: Zama, Daniele, Cocchi, Ilaria, Masetti, Riccardo, Specchia, Fernando, Alvisi, Patrizia, Gambineri, Eleonora, Lima, Mario, Pession, Andrea
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4421998/
https://ncbi.nlm.nih.gov/pubmed/25326164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-014-0068-4
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