Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection

Eur J Pediatr. 2005 Dec;164(12):753-7. doi: 10.1007/s00431-005-1689-9. Epub 2005 Aug 10.


Disseminated BCG infection is a rare complication of vaccination that occurs in patients with impaired immunity. In recent years, a series of inherited disorders of the IL-12-IFN-gamma axis have been described that predispose affected individuals to disseminated disease caused by BCG, environmental Mycobacteria, and non-typhoidal Salmonella. The routine immunological work-up of these patients is normal and the diagnosis requires specific investigation of the IL-12-IFN-gamma circuit. We report here the first two such patients originating from and living in Iran. The first child is two years old and suffers from complete IFN-gamma receptor 2 deficiency and disseminated BCG infection. He is currently in clinical remission thanks to prolonged multiple antibiotic therapy. The other, a 28-year-old adult, suffers from IL-12p40 deficiency and presented with disseminated BCG infection followed by recurrent episodes of systemic salmonellosis. He is now doing well. A third patient of Iranian descent, living in North America, was reported elsewhere to suffer from IL-12Rbeta1 deficiency. These three patients thus indicate that various inherited defects of the IL-12-IFN-gamma circuit can be found in Iranian people. In conclusion we recommend to consider the disorders of the IL-12-IFN-gamma circuit in all patients with severe BCG infection, disseminated environmental mycobacterial disease, or systemic non-typhoidal salmonellosis, regardless of their ethnic origin and country of residence.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • BCG Vaccine / adverse effects*
  • Child, Preschool
  • Genetic Predisposition to Disease
  • Humans
  • Interferon gamma Receptor
  • Interferon-gamma / genetics*
  • Interleukin-12 / genetics*
  • Interleukin-12 Subunit p40
  • Iran
  • Male
  • Mycobacterium bovis*
  • Protein Subunits / genetics
  • Receptors, Interferon / genetics
  • Salmonella Infections / genetics
  • Salmonella Infections / immunology
  • Tuberculosis / genetics*
  • Tuberculosis / immunology
  • Tuberculosis / microbiology


  • BCG Vaccine
  • Interleukin-12 Subunit p40
  • Protein Subunits
  • Receptors, Interferon
  • Interleukin-12
  • Interferon-gamma