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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141742/
https://www.ncbi.nlm.nih.gov/pubmed/30255005
http://dx.doi.org/10.3389/fped.2018.00248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141742/
https://www.ncbi.nlm.nih.gov/pubmed/30255005
http://dx.doi.org/10.3389/fped.2018.00248

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