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Article

Case report: a case of CYBB gene variant in X-linked chronic granulomatous disease.

BMC pediatrics - 19 Mar 2026

Lv Haiyan, Zhang Juanli, Zhang Yongqin, Wei Guohua, Chen Yongqian

Abstract excerpt

Chronic granulomatous disease (CGD) is an inherited immunodeficiency characterized by impaired phagocytic function due to defects in the NADPH oxidase complex. This enzymatic deficiency compromises the production of reactive oxygen species required for microbial killing, predisposing affected individuals to recurrent and often severe infections. Pulmonary involvement is particularly frequent. We describe a...

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Identifiers

PMID: 41851643
DOI: 10.1186/s12887-026-06749-y
PMCID: PMC13123230

Genes

CYBB

Provenance

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

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[Prenatal diagnosis and novel mutation in X-linked chronic granulomatous disease].Semantic proximity Read ↗

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation.Semantic proximity Read ↗

A Novel CYBB Mutation in Chronic Granulomatous Disease in Iran.Semantic proximity Read ↗

Molecular diagnosis of X-linked chronic granulomatous disease in Iran.Semantic proximity Read ↗

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Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.Semantic proximity Read ↗

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