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Article

Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.

The journal of gene medicine - 1 Feb 2026

da Rosa Leonardo Martinello, da Rosa Martha Braun, Wilson Mariana de Sampaio Leite Jobim, Schwartz Ida Vanessa Doederlein, Sperb-Ludwig Fernanda

Abstract excerpt

Chronic granulomatous disease (CGD) is a rare inborn error of immunity caused by defects in components of the NADPH oxidase that impair the elimination of infectious microorganisms. Individuals affected by CGD become more susceptible to recurrent and severe infections. Six male patients from Southern Brazil were clinically and genetically analyzed through data collection from medical records and massively...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 41651679
DOI: 10.1002/jgm.70086
PMCID: PMC12880906

Genes

NCF1
CYBB
CYBA
NCF2
NCF4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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