NADPH oxidase deficiency in X-linked chronic granulomatous disease.
We measured the cyanide-insensitive pyridine nucleotide oxidase activity of fractionated resting and phagocytic neutrophils from 11 normal donors, 1 patient with hereditary deficiency of myeloperoxidase, and 7 patients with X-linked chronic granulomatous disease (CGD). When measured under optimal conditions (at pH 5.5 and in the presence of 0.5 mM Mn++), NADPH oxidase activity increased fourfold with phagocytosis and was six-fold higher than with NADH. Phagocytic neutrophils from patients with CGD were markedly deficient in NADPH oxidase activity.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008297:Male; D008345:Manganese / Q000494:pharmacology; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D009504:Neutrophils / Q000201:enzymology; D010585:Phagocyte Bactericidal Dysfunction / Q000201:enzymology*; D010587:Phagocytosis
D008345:Manganese; D009247:NADH, NADPH Oxidoreductases