title: Familial IPEX syndrome: different glomerulopathy in two siblings.
abstract: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome (OMIM 304790) is a rare hereditary disorder of the immune regulatory system caused by FOXP3 mutations. The clinical features of this syndrome include a wide spectrum of severe autoimmune diseases and renal involvement, mostly due to tubulointerstitial diseases, in some patients. Glomerulopathy of membranous nephropathy (MN) and minimal change nephrotic syndrome (MCNS), however, have also been reported. We encountered two children with IPEX syndrome from the same family. Interestingly, they had different glomerular lesions: one had MN and the other had MCNS. Herein we describe the cases of these siblings and review the possible mechanisms for the development of two different renal lesions.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Eujin
authors.initials: E
authors.lastname: Park
authors.forename: Hye Jin
authors.initials: HJ
authors.lastname: Chang
authors.forename: Jae Il
authors.initials: JI
authors.lastname: Shin
authors.forename: Beom Jin
authors.initials: BJ
authors.lastname: Lim
authors.forename: Hyeon Joo
authors.initials: HJ
authors.lastname: Jeong
authors.forename: Kyoung Bun
authors.initials: KB
authors.lastname: Lee
authors.forename: Kyoung Chul
authors.initials: KC
authors.lastname: Moon
authors.forename: Hee Gyung
authors.initials: HG
authors.lastname: Kang
authors.forename: Il-Soo
authors.initials: IS
authors.lastname: Ha
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
mesh_terms: D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D003967:Diarrhea / Q000175:diagnosis* / Q000235:genetics; D051858:Forkhead Transcription Factors / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D015433:Glomerulonephritis, Membranous / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007154:Immune System Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology*; D008297:Male; D009154:Mutation; D009402:Nephrosis, Lipoid / Q000175:diagnosis* / Q000235:genetics; D035781:Siblings
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors
keywords: FOXP3; IPEX syndrome; membranous nephropathy; minimal change nephrotic syndrome; regulatory T cell