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Article

Case Report: First report of a novel homozygous nonsense mutation in the CYBA gene causing chronic granulomatous disease.

Frontiers in immunology - 1 Jan 2026

Wang Wen-Yuan, Ma Pan-Pan, Wang Shu-Ying, Wang Yong-Jun

Abstract excerpt

Objective: To investigate the etiology of recurrent severe pneumonia and pleural effusion in a pediatric patient through pathogenic gene testing and bioinformatics analysis. Methods: Clinical characteristics and laboratory findings were retrospectively reviewed. Peripheral blood samples were collected from the patient and both parents. Genomic DNA was extracted and subjected to trio whole-exome sequencing (WES)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41939915
DOI: 10.3389/fimmu.2026.1744743
PMCID: PMC13044143

Genes

CYBA

Variants

Provenance

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

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Research trail→

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Case Report: First report of a novel homozygous nonsense mutation in the CYBA gene causing chronic granulomatous disease.PMID 41939915Read ↗

Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.Semantic proximity Read ↗

Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB.Semantic proximity Read ↗

Novel Compound Heterozygous CYBA Mutations Causing Neonatal-OnsetSemantic proximity Read ↗

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Identification of a novel mutation in CYBB gene in a Chinese neonate with X-linked chronic granulomatous disease: A case report.Semantic proximity Read ↗

Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB.Semantic proximity Read ↗

Somatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms.Semantic proximity Read ↗

The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.Semantic proximity Read ↗

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

[A case report of chronic granulomatous disease with CYBB gene mutation in an adult].Semantic proximity Read ↗

Novel CYBA mutation in a family with BCGitis.Semantic proximity Read ↗

Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease.Semantic proximity Read ↗

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