title: Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease.
abstract: We studied phagocyte reduced nicotinamide adenine dinucleotide phosphate function to evaluate production of reactive oxygen species in both X-linked and autosomal forms of chronic granulomatous disease. We found a consistent and significant difference between the activated granulocyte response of the X-linked (gp91-phagocyte oxidase) form of chronic granulomatous disease (n = 18) and that of the most common autosomal recessive (p47-phagocyte oxidase) form of the disease (n = 17). The data indicate that mutations in the p47-phagocyte oxidase component of the reduced nicotinamide adenine dinucleotide phosphate oxidase component do not completely prevent oxidation despite severe defects in superoxide generation.
authors.affiliation: Laboratory of Host Defenses, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: S J
authors.initials: SJ
authors.lastname: Vowells
authors.forename: T A
authors.initials: TA
authors.lastname: Fleisher
authors.forename: S
authors.initials: S
authors.lastname: Sekhsaria
authors.forename: D W
authors.initials: DW
authors.lastname: Alling
authors.forename: T E
authors.initials: TE
authors.lastname: Maguire
authors.forename: H L
authors.initials: HL
authors.lastname: Malech
mesh_terms: D005434:Flow Cytometry; D005838:Genotype; D006105:Granulomatous Disease, Chronic / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D009097:Multienzyme Complexes / Q000378:metabolism*; D009247:NADH, NADPH Oxidoreductases / Q000378:metabolism*
chemical_list: D009097:Multienzyme Complexes; C023107:NADH oxidase; D009247:NADH, NADPH Oxidoreductases