Sanquin Research, and Karl Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18.
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.
慢性肉芽肿病（CGD）是一种免疫缺陷病，影响约二十五万人中的一人。该病是由编码白细胞 NADPH 氧化酶组成部分的基因突变引起的。这种酶产生超氧化物，这对于吞噬性白细胞内病原体杀伤过程是必不可少的。CGD 中涉及的五个基因中的四个是常染色体的；这些是编码 p22-phox 的 CYBA、编码 p67-phox 的 NCF2、编码 p47-phox 的 NCF1 和编码 p40-phox 的 NCF4。本文列出了这些基因在常染色体 CGD 中的所有已鉴定的突变。此外，还给出了这些基因中的多态性，这将有助于识别未来的致病突变。
