Hematologically important mutations: X-linked chronic granulomatous disease (third update).
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.
Roos
Dirk
D
Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX, Amsterdam, The Netherlands. d.roos@sanquin.nl
Kuhns
Douglas B
DB
Maddalena
Anne
A
Roesler
Joachim
J
Lopez
Juan Alvaro
JA
Ariga
Tadashi
T
Avcin
Tadej
T
de Boer
Martin
M
Bustamante
Jacinta
J
Condino-Neto
Antonio
A
Di Matteo
Gigliola
G
He
Jianxin
J
Hill
Harry R
HR
Holland
Steven M
SM
Kannengiesser
Caroline
C
Köker
M Yavuz
MY
Kondratenko
Irina
I
van Leeuwen
Karin
K
Malech
Harry L
HL
Marodi
László
L
Nunoi
Hiroyuki
H
Stasia
Marie-José
MJ
Ventura
Anna Maria
AM
Witwer
Carl T
CT
Wolach
Baruch
B
Gallin
John I
JI
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
D008562:Membrane Glycoproteins; D013481:Superoxides; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases