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

Autor: Jose Antonio Tavares de Albuquerque, Alessandra Miramontes Lima, Edgar Borges de Oliveira Junior, Edson Kiyotaka Ishizuka, Walmir Cutrim Aragão-Filho, Nuria Bengala Zurro, Sônia Mayumi Chiba, Fátima Rodrigues Fernandes, Antonio Condino-Neto
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Frontiers in Pediatrics, Vol 7 (2019)
Druh dokumentu: article
ISSN: 2296-2360
DOI: 10.3389/fped.2019.00391
Popis: 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
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