1. Hematologically important mutations: X-linked chronic granulomatous disease (third update).
- Author
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Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, Avcin T, de Boer M, Bustamante J, Condino-Neto A, Di Matteo G, He J, Hill HR, Holland SM, Kannengiesser C, Köker MY, Kondratenko I, van Leeuwen K, Malech HL, Marodi L, Nunoi H, Stasia MJ, Ventura AM, Witwer CT, Wolach B, and Gallin JI
- Subjects
- Chromosomes, Human, X metabolism, Granulomatous Disease, Chronic enzymology, Granulomatous Disease, Chronic epidemiology, Humans, Membrane Glycoproteins metabolism, NADPH Oxidase 2, NADPH Oxidases metabolism, Superoxides metabolism, Chromosomes, Human, X genetics, Granulomatous Disease, Chronic genetics, Membrane Glycoproteins genetics, Mutation, NADPH Oxidases genetics
- 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., (Copyright © 2010 Elsevier Inc. All rights reserved.)
- Published
- 2010
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