GENOTYPE-DEPENDENT VARIABILITY IN FLOW CYTOMETRIC EVALUATION OF REDUCED NICOTINAMIDE ADENINE-DINUCLEOTIDE PHOSPHATE OXIDASE FUNCTION IN PATIENTS WITH CHRONIC GRANULOMATOUS-DISEASE

We studied phagocyte reduced nicotinamide adenine dinucleotide phospha te function to evaluate production of reactive oxygen species in both X-linked and autosomal forms of chronic granulomatous disease. We foun d a consistent and significant difference between the activated granul ocyte response of the X-linked (gp91-phagocyte oxidase) form of chroni c granulomatous disease (n = 18) and that of the most common autosomal recessive (p47-phagocyte oxidase) form of the disease (n = 17). The d ata indicate that mutations in the p47-phagocyte oxidase component of the reduced nicotinamide adenine dinucleotide phosphate oxidase compon ent do not completely prevent oxidation despite severe defects in supe roxide generation.