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Article

Familial IPEX syndrome: different glomerulopathy in two siblings.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Apr 2015

Park Eujin, Chang Hye Jin, Shin Jae Il, Lim Beom Jin, Jeong Hyeon Joo, Lee Kyoung Bun, Moon Kyoung Chul, Kang Hee Gyung, Ha Il-Soo, Cheong Hae Il

Abstract excerpt

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...

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Source

Identifiers

PMID: 25712815
DOI: 10.1111/ped.12570

Genes

FOXP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Renal-predominant FOXP3-related immune dysregulation with ALPS-like lymphoproliferation: a case reportSemantic proximity Read ↗

Beyond the Classical Triad: Atypical Presentations and Regulatory T Cell Phenotyping in a Cohort of IPEX Patients.Semantic proximity Read ↗

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