title: Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.
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.
authors.affiliation: Pediatric Oncology and Haematology Unit "Lalla Seràgnoli", Department of Pediatrics, University of Bologna Sant'Orsola-Malpighi Hospital, Via Massarenti, 11, Bologna, 40138, Italy. daniele.zama@gmail.com.
authors.forename: Daniele
authors.initials: D
authors.lastname: Zama
authors.affiliation: Pediatric Oncology and Haematology Unit "Lalla Seràgnoli", Department of Pediatrics, University of Bologna Sant'Orsola-Malpighi Hospital, Via Massarenti, 11, Bologna, 40138, Italy. ilaria.cocchi2@studio.unibo.it.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Cocchi
authors.affiliation: Pediatric Oncology and Haematology Unit "Lalla Seràgnoli", Department of Pediatrics, University of Bologna Sant'Orsola-Malpighi Hospital, Via Massarenti, 11, Bologna, 40138, Italy. riccardo.masetti@gmail.com.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Masetti
authors.affiliation: Pediatric Oncology and Haematology Unit "Lalla Seràgnoli", Department of Pediatrics, University of Bologna Sant'Orsola-Malpighi Hospital, Via Massarenti, 11, Bologna, 40138, Italy. fernando.specchia@unibo.it.
authors.forename: Fernando
authors.initials: F
authors.lastname: Specchia
authors.affiliation: Pediatric Department, Maggiore Hospital, Bologna, Italy. patrizia.alvisi@virgilio.it.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Alvisi
authors.affiliation: Department of 'NEUROFARBA', Section of Child's Health, University of Florence, Florence, Italy. eleonora.gambineri@unifi.it.|BMT Unit, Department of Hematology-Oncology, Anna Meyer Children's Hospital, Florence, Italy. eleonora.gambineri@unifi.it.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Gambineri
authors.affiliation: Department of Pediatric Surgery, University of Bologna, Bologna, Italy. mario.lima@unibo.it.
authors.forename: Mario
authors.initials: M
authors.lastname: Lima
authors.affiliation: Pediatric Oncology and Haematology Unit "Lalla Seràgnoli", Department of Pediatrics, University of Bologna Sant'Orsola-Malpighi Hospital, Via Massarenti, 11, Bologna, 40138, Italy. andrea.pession@unibo.it.
authors.forename: Andrea
authors.initials: A
authors.lastname: Pession
mesh_terms: D002648:Child; D003967:Diarrhea / Q000209:etiology* / Q000276:immunology; D051858:Forkhead Transcription Factors / Q000235:genetics / Q000378:metabolism; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000235:genetics / Q000276:immunology; D006801:Humans; D008297:Male; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications* / Q000235:genetics / Q000276:immunology; D011504:Protein-Losing Enteropathies / Q000150:complications* / Q000235:genetics / Q000276:immunology; D013577:Syndrome; D050378:T-Lymphocytes, Regulatory / Q000276:immunology*
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors