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

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• 作者：Dirk Roos ; 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 ; H
• 关键词：gp91^phox ; Chronic granulomatous disease ; Mutation ; CYBB ; NADPH oxidase ; X-linked disease
• 刊名：Blood Cells, Molecules, and Diseases
• 出版年：2010
• 出版时间：15 October 2010
• 年：2010
• 卷：45
• 期：3
• 页码：246-265
• 全文大小：401 K

文摘

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.