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Article

Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case.

BMC immunology - 12 Nov 2025

Kabadayı Gizem, Atay Özge, Baysal Bakır Damla, Yağmur Halime, Kaşıkçı Mermer Esma Tuğba, Okur Acar Sultan, Öztürk Yılmaz Şerife, Hazan Filiz, Gözmen Salih, Uzuner Nevin

Abstract excerpt

BACKGROUND: Severe combined immunodeficiency (SCID) is a congenital immunodeficiency characterized by significant numerical or functional defects in T lymphocytes and is often accompanied by B lymphocyte dysfunction. It presents early in life with severe, recurrent opportunistic infections. Early diagnosis and hematopoietic stem cell transplantation (HSCT) are vital for patient survival. Cernunnos/XLF deficiency...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41225329
DOI: 10.1186/s12865-025-00774-9
PMCID: PMC12613498

Genes

NHEJ1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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