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

• Main Authors: Jose Antonio Tavares de Albuquerque (Author), Edgar Borges de Oliveira Junior (Author), Nuria Bengala Zurro (Author), Paola Vendramini (Author), Edson Kiyotaka Ishizuka (Author), Daniela de Souza Paiva Borgli (Author), Monica Soares de Souza (Author), Antonio Condino-Neto (Author)
• Format: Book
• Published: Frontiers Media S.A., 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...