A variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b

Eur J Clin Invest. 1983 Jun;13(3):243-8. doi: 10.1111/j.1365-2362.1983.tb00095.x.

Abstract

Chronic granulomatous disease was diagnosed in a boy who suffered from severe generalized infections. Family investigations revealed the inheritance of the disease to be X-linked. However, unlike other cases of X-linked chronic granulomatous disease, the membrane oxidase of the neutrophils from this patient was not totally defective and sufficient activity was left to result in a normal phorbol myristate acetate-stimulated nitroblue tetrazolium slide test. Also, unlike the usual findings in X-linked chronic granulomatous disease, cytochrome b was present in normal amounts in the neutrophils from this patient. The cytochrome was normal, judged from its midpoint potential of -245 mV and its ability to bind CO. It is thus apparent that X-linked chronic granulomatous disease may result from at least two different defects and that the phorbol myristate acetate stimulated nitroblue tetrazolium slide test fails to detect some cases.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cytochrome b Group / blood*
  • Female
  • Granulomatous Disease, Chronic / blood
  • Granulomatous Disease, Chronic / genetics*
  • Hexoses / metabolism
  • Humans
  • Male
  • Neutrophils / physiology*
  • Nitroblue Tetrazolium / metabolism*
  • Oxidation-Reduction
  • Phagocytosis
  • Sex Chromosomes*
  • Tetrazolium Salts / metabolism*
  • X Chromosome*

Substances

  • Cytochrome b Group
  • Hexoses
  • Tetrazolium Salts
  • Nitroblue Tetrazolium