[A report of a family with chronic granulomatous disease with a gp91phox disorder]

Rev Alerg Mex. 2010 Mar-Apr;57(2):60-5.
[Article in Spanish]

Abstract

The chronic granulomatous disease is a primary immunodeficiency with a defect of the phagocytosis process; its main alteration resides in the incapacity of the NADPH oxidase system to produce reactive oxygen species capable of destruct pathogenic organisms such as bacteria, fungus and mycobacteria. Patients are susceptible to severe and mild infections, mainly pneumonias, linfadenitis and gastroenteritis that tend to be repetitive; in addition, they presented granulomatous inflammation and autoimmunity. We presented the case of two brothers with X-linked chronic granulomatous disease with alteration in the sub-unit gp91Phox; heredofamilial background was endogamy and consanguinity. Both patients suffered severe infections, frequent abscesses and a poor growth. Diagnosis was confirmed with nitroblue tetrazolium test. During their evolution, the patients presented also BCGitis, BCGosis and septic shock. They began prophylactic treatment with trimetoprim sulfametoxazole and itraconazole, as well as gamma interferon, with favorable response, presenting a lower amount of infectious episodes, as well as a recovery of their weight and height. The early diagnosis of the patients has improved their prognosis.

Publication types

  • Case Reports

MeSH terms

  • Granulomatous Disease, Chronic / genetics*
  • Humans
  • Infant
  • Male
  • Membrane Glycoproteins / genetics*
  • NADPH Oxidase 2
  • NADPH Oxidases / genetics*
  • Pedigree

Substances

  • Membrane Glycoproteins
  • CYBB protein, human
  • NADPH Oxidase 2
  • NADPH Oxidases