Novel mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infections

Scand J Immunol. 2006 Aug;64(2):137-9. doi: 10.1111/j.1365-3083.2006.01775.x.

Abstract

In 1981 we presented a patient with Mycobacterium intracellulare osteomyelitis and depressed monocyte cytotoxicity. It is now demonstrated that the molecular defect was a never-before-described nucleotide deletion at position 794 (794delT) in the interferon-gamma-receptor alpha-1 gene. The genetic defect was passed on to his daughter who was diagnosed with non-tuberculous mycobacterial osteomyelitis at the age of 7 years.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Child
  • DNA, Bacterial / chemistry
  • DNA, Bacterial / genetics
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Interferon gamma Receptor
  • Male
  • Molecular Sequence Data
  • Mycobacterium avium Complex / growth & development*
  • Mycobacterium avium-intracellulare Infection / genetics*
  • Mycobacterium avium-intracellulare Infection / immunology*
  • Mycobacterium avium-intracellulare Infection / microbiology
  • Osteomyelitis / genetics*
  • Osteomyelitis / immunology
  • Osteomyelitis / microbiology*
  • Point Mutation
  • Receptors, Interferon / deficiency
  • Receptors, Interferon / genetics*
  • Sequence Analysis, DNA

Substances

  • DNA, Bacterial
  • Receptors, Interferon