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Article

Genetic and biochemical background of chronic granulomatous disease.

Archivum immunologiae et therapiae experimentalis - 1 Jan 2000

Jurkowska Monika, Bernatowska Ewa, Bal Jerzy

Abstract excerpt

Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency syndrome caused by a profound defect in the oxygen metabolic burst machinery. Activity of NADPH oxidase is absent or profoundly diminished, as at least one of its components (gp91(phox), p22(phox), p47(phox) and p67(phox)) is lacking or non-functional. This review explains the molecular basis of NADPH oxidase dysfunction by the effects of...

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Share to Chromosomes, Human, X
Share to Genes, Recessive
Share to Granulomatous Disease, Chronic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Membrane Transport Proteins

Share to NADPH Dehydrogenase

Share to NADPH Oxidase 2

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Source

Identifiers

PMID: 15179325

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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