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

Abstract:

: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 <5% of all cases. Here, we report a case of a 2-year-old female with persistent recurrent pneumopathy, even under trimethoprim-sulfamethoxazole (TMP-SMX) and itraconazole prophylaxis combined with IFNγ treatment. Genetic analysis revealed a novel homozygous mutation in NCF2, sequence depletion in a splicing region (c.256_257+2delAAGT NM_000433), leading to a K86Ifs*2 residue change in the p67-phox protein.

journal_name

Front Pediatr

journal_title

Frontiers in pediatrics

authors

de Albuquerque JAT,Lima AM,de Oliveira Junior EB,Ishizuka EK,Aragão-Filho WC,Bengala Zurro N,Mayumi Chiba S,Fernandes FR,Condino-Neto A

doi

10.3389/fped.2019.00391

subject

Has Abstract

pub_date

2019-09-27 00:00:00

pages

391

issn

2296-2360

journal_volume

7

pub_type

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