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Article

Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).

Blood - 1 Aug 2000

Rae J, Noack D, Heyworth P G, Ellis B A, Curnutte J T, Cross A R

Abstract excerpt

Chronic granulomatous disease is a rare inherited disorder caused by nonexistent or severely decreased phagocyte superoxide production that results in a severe defect in host defense and consequent predisposition to microbial infection. The enzyme responsible for generating the superoxide, NADPH oxidase, involves at least 5 protein components. The absence of, or a defect in, any 1 of 4 of these proteins...

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Source

Identifiers

PMID: 10910929

Genes

CYBA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).PMID 10910929Read ↗

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

A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease.Semantic proximity Read ↗

Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.Semantic proximity Read ↗

CYBA encoding p22(phox), the cytochrome b558 alpha polypeptide: gene structure, expression, role and physiopathology.Semantic proximity Read ↗

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

Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.Semantic proximity Read ↗

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.Semantic proximity Read ↗

Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease.Semantic proximity Read ↗

Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.Semantic proximity Read ↗

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.Semantic proximity Read ↗

Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.Semantic proximity Read ↗

Genetic analysis of 10 unrelated Korean families with p22-phox-deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea.Semantic proximity Read ↗

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