| Literature DB >> 20729109 |
Dirk Roos1, 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.
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.Entities:
Mesh：
Substances：
Year: 2010 PMID： 20729109 PMCID： PMC4360070 DOI： 10.1016/j.bcmd.2010.07.012
Source DB: PubMed Journal: Blood Cells Mol Dis ISSN： 1079-9796 Impact factor: 3.039