A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers.

doi:10.1186/s13256-023-04049-y

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Article

A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers.

Journal of medical case reports - 18 Jul 2023

Rayzan Elham, Sadeghalvad Mona, Shahkarami Sepideh, Zoghi Samaneh, Aryan Zahra, Mahdaviani Seyed Alireza, Boztug Kaan, Rezaei Nima

Abstract excerpt

BACKGROUND: X-linked severe combined immunodeficiency is caused by IL2RG gene mutation. Several variations have been identified in the IL2RG gene, which potentially can prevent the production of nonfunctional proteins. Herein, a novel X-linked variant in the IL2RG gene is reported in twin brothers, associated with inflammatory bowel symptoms. CASE PRESENTATION: The patients were 26-month-old monozygotic twin...

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PMID: 37461086
DOI: 10.1186/s13256-023-04049-y
PMCID: PMC10353185

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