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

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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Submitted on : Tuesday, April 9, 2013 - 2:53:52 PM
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Dirk Roos, Douglas Kuhns, Anne Maddalena, Joachim Roesler, Juan Alvaro Lopez, et al.. Hematologically important mutations: X-linked chronic granulomatous disease (third update).. Blood Cells, Molecules and Diseases, Elsevier, 2010, 45 (3), pp.246-65. ⟨10.1016/j.bcmd.2010.07.012⟩. ⟨hal-00809510⟩



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