title: Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease.
abstract: 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, lung, or lymph nodes. The mutation of the CYBB gene encoding gp91phox, located on chromosome Xp21.1 is one of the causes of CGD. We report a patient with X-linked CGD who carried a novel mutation, a c.1133A>G (paAsp378Gly) missense mutation, in the CYBB gene.
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Sang-Mi
authors.initials: SM
authors.lastname: Song
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ; Environmental Health Center for Atopic Diseases, Samsung Medical Center, Seoul, Korea.
authors.forename: Mi-Ran
authors.initials: MR
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ; Environmental Health Center for Atopic Diseases, Samsung Medical Center, Seoul, Korea.
authors.forename: Do-Soo
authors.initials: DS
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ; Environmental Health Center for Atopic Diseases, Samsung Medical Center, Seoul, Korea.
authors.forename: Jihyun
authors.initials: J
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Yae-Jean
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ; Environmental Health Center for Atopic Diseases, Samsung Medical Center, Seoul, Korea.
authors.forename: Kangmo
authors.initials: K
authors.lastname: Ahn
keywords: CYBB gene; Chronic granulomatous disease; immunodeficiency; mutation