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.
Daniele Zama, Ilaria Cocchi, Riccardo Masetti, Fernando Specchia, Patrizia Alvisi, Eleonora Gambineri Gambineri, et al. (2014). Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea. THE ITALIAN JOURNAL OF PEDIATRICS, 40(68), 1-7 [10.1186/s13052-014-0068-4].
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea
ZAMA, DANIELE;MASETTI, RICCARDO;SPECCHIA, FERNANDO GIUSEPPE;ALVISI, PATRIZIA;LIMA, MARIO;PESSION, ANDREA
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.