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Article

Mutations of chronic granulomatous disease in Turkish families.

European journal of clinical investigation - 1 Jul 2007

Köker M Y, Sanal O, De Boer M, Tezcan I, Metin A, Ersoy F, Roos D

Abstract excerpt

BACKGROUND: Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of four known NADPH-oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to the phenotype of CGD. Defects in gp91-phox, encoded by CYBB, lead to X-linked CGD and have been...

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Topics

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17576211
DOI: 10.1111/j.1365-2362.2007.01828.x

Genes

CYBB
NCF1

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.

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