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Article

Severe X-linked chronic granulomatous disease in two unrelated females.

European journal of pediatrics - 1 Feb 2007

Chollet-Martin Sylvie, Lopez Anne, Gaud Catherine, Henry Dominique, Stos Bertrand, El Benna Jamel, Chedevile Gaëlle, Gendrel Dominique, Gougerot-Pocidalo Marie-Anne, Grandchamp Bernard, Gérard Bénédicte

Abstract excerpt

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by mutations of one of the subunits of phagocyte reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase leading to decreased or complete absence of neutrophil oxidative burst. We report the clinical and laboratory findings in two young unrelated females 14 and 9 years of age and natives of Tahiti and Reunion Islands,...

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Source

Identifiers

PMID: 17089090
DOI: 10.1007/s00431-006-0211-3

Genes

CYBB

Variants

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.

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