Journal
BLOOD CELLS MOLECULES AND DISEASES
Volume 45, Issue 3, Pages 246-265Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bcmd.2010.07.012
Keywords
gp91(phox); Chronic granulomatous disease; Mutation; CYBB; NADPH oxidase; X-linked disease
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Funding
- CGD Research Trust, London, UK
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2005/59568]
- Slovenian Research Agency [L3-0624]
- National Cancer Institute, National Institutes of Health [HHSN261200800001E]
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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. (C) 2010 Elsevier Inc. All rights reserved.
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