A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy

A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy

Chronic granulomatous disease (CGD) is an inherited, genetically heterogeneous disease characterized by defective phagocytic cell microbicidal function, leading to increased susceptibility to bacterial and fungal infections. CGD is caused by mutations in components of the nicotinamide adenine dinucl...

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Veröffentlicht in:Frontiers in pediatrics 2019-09, Vol.7
Hauptverfasser: de Albuquerque, Jose Antonio Tavares, Lima, Alessandra Miramontes, de Oliveira Junior, Edgar Borges, Ishizuka, Edson Kiyotaka, Aragão-Filho, Walmir Cutrim, Bengala Zurro, Nuria, Mayumi Chiba, Sônia, Fernandes, Fátima Rodrigues, Condino-Neto, Antonio
Format: Artikel
Sprache:eng
Schlagworte:
chronic granulomatous disease
interferon-gamma
NADPH oxidase
NCF2 gene
novel mutation
Pediatrics
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Beschreibung
Zusammenfassung:Chronic granulomatous disease (CGD) is an inherited, genetically heterogeneous disease characterized by defective phagocytic cell microbicidal function, leading to increased susceptibility to bacterial and fungal infections. CGD is caused by mutations in components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system, which is responsible for reactive oxygen species production during phagocytosis. Mutations in the neutrophil cytosolic factor 2 ( NCF2 ) gene account for
ISSN:2296-2360
2296-2360
DOI:10.3389/fped.2019.00391