A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis

Chronic granulomatous disease (CGD) is an innate immune deficiency of phagocytic cells caused by mutations that affect components of the NADPH oxidase system, with resulting impairment in reactive oxygen species production. Patients with CGD are susceptible to recurrent infections and hyperinflammat...

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Bibliographic Details
Published in:Frontiers in pediatrics 2018-09, Vol.6, p.248
Main Authors: de Albuquerque, Jose Antonio Tavares, de Oliveira Junior, Edgar Borges, Zurro, Nuria Bengala, Vendramini, Paola, Ishizuka, Edson Kiyotaka, Borgli, Daniela de Souza Paiva, de Souza, Monica Soares, Condino-Neto, Antonio
Format: Article
Language:English
Subjects:
chronic granulomatous disease (CGD)
CYBB gene
NADPH oxidase
novel mutation
Pediatrics
pneumonia
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Summary:Chronic granulomatous disease (CGD) is an innate immune deficiency of phagocytic cells caused by mutations that affect components of the NADPH oxidase system, with resulting impairment in reactive oxygen species production. Patients with CGD are susceptible to recurrent infections and hyperinflammatory responses. Mutations in lead to the X-linked form of CGD and are responsible for ~ 70% of cases. In this study, we report the case of a 2.5-year-old male patient with recurrent pneumonia and Bacillus Calmette-Guérin infection (BCGitis). As his first clinical manifestation, he presented with bullous impetigo at 18 days of age, which was followed by recurrent pneumonia and regional BCGitis. Genetic analysis revealed a mutation in exon 5 of the gene: a single-nucleotide substitution, c.376T > C, leading to a C126R change.
ISSN:2296-2360
2296-2360
DOI:10.3389/fped.2018.00248