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Article

IPEX due to an exon 7 skipping FOXP3 mutation with autoimmune diabetes mellitus cured by selective TReg cell engraftment.

Clinical immunology (Orlando, Fla.) - 1 Jun 2018

Magg Thomas, Wiebking Volker, Conca Raffaele, Krebs Stefan, Arens Stefan, Schmid Irene, Klein Christoph, Albert Michael H, Hauck Fabian

Abstract excerpt

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare inherited disorder leading to severe organ-specific autoimmunity. IPEX is caused by hemizygous mutations in FOXP3, which codes for a master transcription factor of regulatory T (TReg) cell development and function. We describe a four-year-old boy with typical but slightly delayed-onset of IPEX with autoimmune diabetes...

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Identifiers

PMID: 29567430
DOI: 10.1016/j.clim.2018.03.008

Genes

FOXP3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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