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Article

[Autosomal chronic granulomatous disease: case report and mutation analysis of two Brazilian siblings].

Jornal de pediatria - 1 Jan 2000

Prando-Andrade Carolina, Agudelo-Florez Piedad, Lopez Juan A, Paiva Maria Aparecida de Souza, Costa-Carvalho Beatriz T, Condino-Neto Antônio

Abstract excerpt

OBJECTIVE: To report the case of two siblings with chronic granulomatous disease. Chronic granulomatous disease is a primary immunodeficiency disorder characterized by abnormal microbicidal activity. Mutations in the p47-phox gene (NCF-1) are present in about 30% of the patients with chronic granulomatous disease; this group presents a better prognosis and later onset of recurrent infections as compared with the...

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PMID: 15505740

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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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