Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
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.
Roos
Dirk
D
Sanquin Research, and Karl Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. d.roos@sanquin.nl <d.roos@sanquin.nl>
Kuhns
Douglas B
DB
Maddalena
Anne
A
Bustamante
Jacinta
J
Kannengiesser
Caroline
C
de Boer
Martin
M
van Leeuwen
Karin
K
Köker
M Yavuz
MY
Wolach
Baruch
B
Roesler
Joachim
J
Malech
Harry L
HL
Holland
Steven M
SM
Gallin
John I
JI
Stasia
Marie-José
MJ
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
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