Two forms of autosomal chronic granulomatous disease lack distinct neutrophil cytosol factors

Science. 1988 Dec 2;242(4883):1298-301. doi: 10.1126/science.2848319.

Abstract

Chronic granulomatous diseases of childhood (CGD) are a group of disorders of phagocytic cell superoxide (O2.-) production (respiratory burst). Anion exchange chromatography separated from normal neutrophil cytosol a 47-kilodalton neutrophil cytosol factor, NCF-1, that restored activity to defective neutrophil cytosol from most patients with autosomally inherited CGD in a cell-free O2.--generating system. A 65-kilodalton factor, NCF-2, restored activity to defective neutrophil cytosol from one patient with autosomal CGD. NCF-1, NCF-2, and a third cytosol fraction, NCF-3, were inactive alone or in pairs, but together replaced unfractionated cytosol in cell-free O2.- generation. Neutrophils deficient in NCF-1, but not NCF-2, did not phosphorylate the 47-kilodalton protein. It is proposed that NCF-1, NCF-2, and NCF-3 are essential for generation of O2.- by phagocytic cells and that genetic abnormalities of these cytosol components can result in the CGD phenotype.

MeSH terms

  • Blotting, Western
  • Cell Membrane / metabolism
  • Cytosol / metabolism
  • Granulomatous Disease, Chronic / metabolism*
  • Humans
  • In Vitro Techniques
  • Molecular Weight
  • Neutrophils / metabolism*
  • Phosphoproteins / metabolism
  • Superoxides / biosynthesis*

Substances

  • Phosphoproteins
  • Superoxides