Identification of the defective NADPH-oxidase component in chronic granulomatous disease: a study of 57 European families

Eur J Clin Invest. 1992 Jun;22(6):403-6. doi: 10.1111/j.1365-2362.1992.tb01481.x.

Abstract

Chronic Granulomatous Disease (CGD) manifests as a predisposition to infection as a result of defective function of the NADPH oxidase of phagocytic cells. Proteins identified as part of this system include two subunits of a cytochrome b (cytochrome b-245) and two cytosolic factors. The affected oxidase component was determined in 63 CGD patients from 57 families, by Western blotting of extracts of their neutrophils with antibodies to those proteins. 38 (67%) of the families were X-linked with a defect of the beta subunit of the cytochrome. 13 (23%) lacked p47-phox, 3 (5%) p67-phox, and 3 (5%) the alpha subunit of the cytochrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Blotting, Western
  • Europe
  • Female
  • Granulomatous Disease, Chronic / enzymology*
  • Granulomatous Disease, Chronic / genetics
  • Humans
  • Male
  • Molecular Sequence Data
  • NADH, NADPH Oxidoreductases / genetics*
  • NADPH Oxidases

Substances

  • NADH, NADPH Oxidoreductases
  • NADPH Oxidases