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Article

Case report: anti-IL-6 autoantibodies in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Frontiers in immunology - 1 Jan 2025

Lorenzini Tiziana, Malmström Lars, Sabet Ola, Milanesi Samantha, Tintor Diana, Walser Severin, Köppen Julius, Soomann Maarja, Hauri-Hohl Mathias, Prader Seraina, Doffinger Rainer, Pachlopnik Schmid Jana

Abstract excerpt

We describe an atypical presentation of Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome. The patient exhibited food allergies and eczema, along with recurrent and severe infections, but notably lacked the hallmark chronic diarrhea and autoimmune polyendocrinopathy. Whole-exome sequencing revealed the hemizygous FOXP3 variant c.210+1G>T resulting in a loss of protein expression....

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Identifiers

PMID: 40977713
DOI: 10.3389/fimmu.2025.1660161
PMCID: PMC12443674

Genes

CD4
FOXP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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