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Article

Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis.

Mucosal immunology - 1 Sept 2021

Joosse Maria E, Charbit-Henrion Fabienne, Boisgard Remy, Raatgeep Rolien H C, Lindenbergh-Kortleve Dicky J, Costes Léa M M, Nugteren Sandrine, Guegan Nicolas, Parlato Marianna, Veenbergen Sharon, Malan Valérie, Nowak Jan K, Hollink Iris H I M, Mearin M Luisa, Escher Johanna C, Cerf-Bensussan Nadine, Samsom Janneke N

Abstract excerpt

Single genetic mutations predispose to very early onset inflammatory bowel disease (VEO-IBD). Here, we identify a de novo duplication of the 10p15.1 chromosomal region, including the IL2RA locus, in a 2-year-old girl with treatment-resistant pancolitis that was brought into remission by colectomy. Strikingly, after colectomy while the patient was in clinical remission and without medication, the peripheral blood...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34226674
DOI: 10.1038/s41385-021-00423-5
PMCID: PMC8379074

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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