title: Hematologically important mutations: X-linked chronic granulomatous disease (third update).
abstract: Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide is used to kill phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91-phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients. This article lists all mutations identified in CYBB in the X-linked form of CGD. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of future disease-causing mutations.
authors: Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX, Amsterdam, The Netherlands. d.roos@sanquin.nl
authors: Dirk
authors: D
authors: Roos
authors: Douglas B
authors: DB
authors: Kuhns
authors: Anne
authors: A
authors: Maddalena
authors: Joachim
authors: J
authors: Roesler
authors: Juan Alvaro
authors: JA
authors: Lopez
authors: Tadashi
authors: T
authors: Ariga
authors: Tadej
authors: T
authors: Avcin
authors: Martin
authors: M
authors: de Boer
authors: Jacinta
authors: J
authors: Bustamante
authors: Antonio
authors: A
authors: Condino-Neto
authors: Gigliola
authors: G
authors: Di Matteo
authors: Jianxin
authors: J
authors: He
authors: Harry R
authors: HR
authors: Hill
authors: Steven M
authors: SM
authors: Holland
authors: Caroline
authors: C
authors: Kannengiesser
authors: M Yavuz
authors: MY
authors: Köker
authors: Irina
authors: I
authors: Kondratenko
authors: Karin
authors: K
authors: van Leeuwen
authors: Harry L
authors: HL
authors: Malech
authors: László
authors: L
authors: Marodi
authors: Hiroyuki
authors: H
authors: Nunoi
authors: Marie-José
authors: MJ
authors: Stasia
authors: Anna Maria
authors: AM
authors: Ventura
authors: Carl T
authors: CT
authors: Witwer
authors: Baruch
authors: B
authors: Wolach
authors: John I
authors: JI
authors: Gallin
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics* / Q000378:metabolism; D006105:Granulomatous Disease, Chronic / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics* / Q000378:metabolism; D013481:Superoxides / Q000378:metabolism
chemical_list: D008562:Membrane Glycoproteins; D013481:Superoxides; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases