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Review
. 2010 Oct 15;45(3):246-65.
doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21.

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

Dirk Roos  1 , Douglas B Kuhns, Anne Maddalena, Joachim Roesler, Juan Alvaro Lopez, Tadashi Ariga, Tadej Avcin, Martin de Boer, Jacinta Bustamante, Antonio Condino-Neto, Gigliola Di Matteo, Jianxin He, Harry R Hill, Steven M Holland, Caroline Kannengiesser, M Yavuz Köker, Irina Kondratenko, Karin van Leeuwen, Harry L Malech, László Marodi, Hiroyuki Nunoi, Marie-José Stasia, Anna Maria Ventura, Carl T Witwer, Baruch Wolach, John I Gallin
Affiliations
Review

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

Dirk Roos et al. Blood Cells Mol Dis. .

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.

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