High levels of interferon gamma in the plasma of children with complete interferon gamma receptor deficiency

Pediatrics. 2001 Apr;107(4):E48. doi: 10.1542/peds.107.4.e48.


We have found that children with complete interferon gamma (IFNgamma) receptor deficiency, unlike patients with other genetic defects predisposing them to mycobacterial diseases, have very high levels of IFNgamma in their plasma. This unexpected observation provides a simple and accurate diagnostic method for complete IFNgamma receptor deficiency in children with clinical disease caused by bacille Calmette-Guérin vaccines or environmental nontuberculous mycobacteria.

MeSH terms

  • BCG Vaccine / adverse effects
  • Enzyme-Linked Immunosorbent Assay / statistics & numerical data
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Interferon gamma Receptor
  • Interferon-gamma / blood*
  • Interferon-gamma / genetics
  • Mycobacterium Infections / blood*
  • Mycobacterium Infections / genetics
  • Mycobacterium Infections / microbiology
  • Nontuberculous Mycobacteria / genetics
  • Nontuberculous Mycobacteria / pathogenicity
  • Receptors, Interferon / blood
  • Receptors, Interferon / deficiency*


  • BCG Vaccine
  • Receptors, Interferon
  • Interferon-gamma