期刊
BLOOD CELLS MOLECULES AND DISEASES
卷 44, 期 4, 页码 291-299出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bcmd.2010.01.009
关键词
Chronic granulomatous disease; Mutation; Polymorphism; Autosomal recessive; NADPH oxidase
类别
资金
- National Cancer Institute
- National Institutes of Health [HHSN261200800001E]
Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is essential in the process of intracellular pathogen killing by phagocytic leukocytes. Four of the five genes involved in CGD are autosomal; these are CYBA, encoding p22-phox, NCF2, encoding p67-phox, NCF1, encoding p47-phox, and NCF4, encoding p40-phox. This article lists all mutations identified in these genes in the autosomal forms of CGD. Moreover, polymorphisms in these genes are also given, which should facilitate the recognition of future disease-causing mutations. (c) 2010 Elsevier Inc. All rights reserved.
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