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Elsevier, Blood Cells, Molecules and Diseases, 3(45), p. 246-265, 2010

DOI: 10.1016/j.bcmd.2010.07.012

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

Journal article published in 2010 by Dirk Roos, Douglas B. Kuhns, M. Yavuz Köker, Anne Maddalena, Joachim Roesler, Juan Alvaro Lopez, Juan Alvaro Lopez, Tadashi Ariga, Tadej Avcin, Martin de Boer, Jacinta Bustamante, Antonio Condino-Neto ORCID, Gigliola Matteo, Gigliola Di Matteo, Jianxin He and other authors.
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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.