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Article

A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

European journal of pediatrics - 1 Dec 2011

Bae Keun Wook, Kim Bo Eun, Choi Jin-Ho, Lee Joo Hoon, Park Young Seo, Kim Gu-Hwan, Yoo Han Wook, Seo Jong Jin

Abstract excerpt

UNLABELLED: We report a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome with a novel splicing mutation of the FOXP3 gene. The patient is a boy, born at 39 + 2 weeks gestation with a birth weight of 3,280 g. The family history was unremarkable. He was well until 11 months of age, when he was diagnosed with type 1 diabetes mellitus. The level of urine C-peptide was 0.58...

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Source

Identifiers

PMID: 21979562
DOI: 10.1007/s00431-011-1588-1

Genes

FOXP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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