Article
Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.
Human mutation - 1 Dec 2006
Roos Dirk, de Boer Martin, Köker M Yavuz, Dekker Jan, Singh-Gupta Vinita, Ahlin Anders, Palmblad Jan, Sanal Ozden, Kurenko-Deptuch Magdalena, Jolles Stephen, Wolach Baruch
Abstract excerpt
Chronic granulomatous disease (CGD) is an inherited immunodeficiency caused by defects in any of four genes encoding components of the leukocyte nicotinamide dinucleotide phosphate, reduced (NADPH) oxidase. One of these is the autosomal neutrophil cytosolic factor 1 (NCF1) gene encoding the p47phox protein. Most (>97%) CGD patients without p47phox (A47 degrees CGD) are homozygotes for one particular mutation in...
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