Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease

J Pediatr. 1996 Jan;128(1):104-7. doi: 10.1016/s0022-3476(96)70437-7.

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.

MeSH terms

  • Flow Cytometry
  • Genotype
  • Granulomatous Disease, Chronic / enzymology*
  • Granulomatous Disease, Chronic / genetics*
  • Humans
  • Multienzyme Complexes / metabolism*
  • NADH, NADPH Oxidoreductases / metabolism*

Substances

  • Multienzyme Complexes
  • NADH oxidase
  • NADH, NADPH Oxidoreductases