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Article

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

Blood cells, molecules & diseases - 15 Apr 2010

Roos Dirk, Kuhns Douglas B, Maddalena Anne, Bustamante Jacinta, Kannengiesser Caroline, de Boer Martin, van Leeuwen Karin, Köker M Yavuz, Wolach Baruch, Roesler Joachim, Malech Harry L, Holland Steven M, Gallin John I, Stasia Marie-José

Abstract excerpt

Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is essential in the process of intracellular...

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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: 20167518
DOI: 10.1016/j.bcmd.2010.01.009
PMCID: PMC4568122

Genes

CYBA
NCF1
NCF2
NCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20167518-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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