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Article

Somatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms.

Immunologic research - 18 Dec 2025

Kang Zhijuan, Qiu Xinying, Ma Yixing, Zhang Liang

Abstract excerpt

Chronic granulomatous disease (CGD) is a rare inborn error of immunity (IEI) characterized by a defective respiratory burst in phagocytes and defective clearance of phagocytosed microorganisms. CGD is caused by a defect of the enzyme NADPH oxidase, resulting in severe and life-threatening infections in affected children. The genetically heterogeneous X-linked recessive form of CGD (XL-CGD) is caused by mutations...

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Source

Identifiers

PMID: 41410980
DOI: 10.1007/s12026-025-09730-6

Genes

CYBB

Provenance

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

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