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

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

Edité par CCSD ; Elsevier -

International audience. 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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