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Article

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation.

Clinical immunology (Orlando, Fla.) - 1 Nov 2008

Lewis Eric M, Singla Manav, Sergeant Susan, Koty Patrick P, McPhail Linda C

Abstract excerpt

Chronic granulomatous disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly clear invading pathogens. Here we report findings of a late presenting 16-year-old female with X-linked CGD. The patient presented with community-acquired pneumonia, but symptoms persisted for 2 weeks during triple antimicrobial coverage. Cultures revealed Aspergillus...

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Share to Cytochrome b Group
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Granulomatous Disease, Chronic

Share to Membrane Glycoproteins

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Source

Open in PubMed Open full text

Identifiers

PMID: 18774749
DOI: 10.1016/j.clim.2008.07.022
PMCID: PMC2599929

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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