title: Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
abstract: Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is essential in the process of intracellular pathogen killing by phagocytic leukocytes. Four of the five genes involved in CGD are autosomal; these are CYBA, encoding p22-phox, NCF2, encoding p67-phox, NCF1, encoding p47-phox, and NCF4, encoding p40-phox. This article lists all mutations identified in these genes in the autosomal forms of CGD. Moreover, polymorphisms in these genes are also given, which should facilitate the recognition of future disease-causing mutations.
authors.affiliation: Sanquin Research, and Karl Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. d.roos@sanquin.nl <d.roos@sanquin.nl>
authors.forename: Dirk
authors.initials: D
authors.lastname: Roos
authors.forename: Douglas B
authors.initials: DB
authors.lastname: Kuhns
authors.forename: Anne
authors.initials: A
authors.lastname: Maddalena
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.forename: Caroline
authors.initials: C
authors.lastname: Kannengiesser
authors.forename: Martin
authors.initials: M
authors.lastname: de Boer
authors.forename: Karin
authors.initials: K
authors.lastname: van Leeuwen
authors.forename: M Yavuz
authors.initials: MY
authors.lastname: Köker
authors.forename: Baruch
authors.initials: B
authors.lastname: Wolach
authors.forename: Joachim
authors.initials: J
authors.lastname: Roesler
authors.forename: Harry L
authors.initials: HL
authors.lastname: Malech
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.forename: John I
authors.initials: JI
authors.lastname: Gallin
authors.forename: Marie-José
authors.initials: MJ
authors.lastname: Stasia
mesh_terms: D019943:Amino Acid Substitution; D018389:Codon, Nonsense; D005808:Genes, Recessive; D006105:Granulomatous Disease, Chronic / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D019255:NADPH Oxidases / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011544:Pseudogenes; D022821:RNA Splice Sites / Q000235:genetics; D017384:Sequence Deletion
chemical_list: D018389:Codon, Nonsense; D022821:RNA Splice Sites; D019255:NADPH Oxidases; C086986:CYBA protein, human; C527764:NCF2 protein, human; C113333:NCF4 protein, human; C060505:neutrophil cytosolic factor 1