Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

British journal of haematology - 1 Jun 2008

Teimourian Shahram, Zomorodian Elham, Badalzadeh Mohsen, Pouya Alireza, Kannengiesser Caroline, Mansouri Davood, Cheraghi Taher, Parvaneh Nima

Abstract excerpt

One of the rarest forms of chronic granulomatous disease (CGD) is caused by mutations in CYBA, which encodes the p22-phox subunit of the phagocyte NADPH oxidase, leading to defective intracellular killing. This study investigated eight patients (six males and two females) from seven consanguineous, unrelated families with clinical CGD, positive family history and p22-phox deficiency. Mutation analysis of CYBA...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Granulomatous Disease, Chronic

Share to Immunophenotyping

Share to NADPH Dehydrogenase

Share to NADPH Oxidases

Share to Neutrophils

Source

Identifiers

PMID: 18422995
DOI: 10.1111/j.1365-2141.2008.07148.x

Genes

CYBA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.PMID 18422995Read ↗

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

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

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.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 ↗

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

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).Semantic proximity Read ↗

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

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

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).Semantic proximity Read ↗

Case Report: First report of a novel homozygous nonsense mutation in the CYBA gene causing 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 ↗

⌁Select a neighboring publication to make it the new centre.