Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a rare immunodeficiency disease, which is characterized by the lack of a functional nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. The disease presents leukocytosis, anemia, hypergammaglobulinemia, and granuloma formation of the skin...

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Detalhes bibliográficos
Main Authors: Song, Sang-Mi, Park, Mi-Ran, Kim, Do-Soo, Kim, Jihyun, Kim, Yae-Jean, Ki, Chang-Seok, Ahn, Kangmo
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Asthma, Allergy and Clinical Immunology; The Korean Academy of Pediatric Allergy and Respiratory Disease 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4077965/
https://ncbi.nlm.nih.gov/pubmed/24991462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4168/aair.2014.6.4.366
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