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:Front Pediatr
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: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2018
Subjects:
Pediatrics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6141742/
https://ncbi.nlm.nih.gov/pubmed/30255005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2018.00248
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