IL-12Rβ1 deficiency and disseminated Mycobacterium tilburgii disease

J Clin Immunol. 2013 Nov;33(8):1285-8. doi: 10.1007/s10875-013-9941-y. Epub 2013 Oct 10.

Abstract

Mycobacterium tilburgii rarely causes disseminated disease. We describe a case of M. tilburgii infection in an otherwise healthy 33-year-old woman, who was found to carry bi-allelic mutations of the gene encoding the β1 chain of the IL-12 receptor.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alleles
  • CD8-Positive T-Lymphocytes / immunology
  • CD8-Positive T-Lymphocytes / microbiology
  • CD8-Positive T-Lymphocytes / pathology
  • Female
  • Granuloma / drug therapy
  • Granuloma / genetics
  • Granuloma / immunology
  • Humans
  • Killer Cells, Natural / immunology
  • Killer Cells, Natural / microbiology
  • Killer Cells, Natural / pathology
  • Lymph Nodes / immunology
  • Lymph Nodes / microbiology
  • Lymph Nodes / pathology
  • Mutation / immunology
  • Mycobacterium / immunology
  • Mycobacterium Infections, Nontuberculous / drug therapy
  • Mycobacterium Infections, Nontuberculous / genetics*
  • Mycobacterium Infections, Nontuberculous / immunology*
  • Receptors, Interleukin-12 / deficiency*
  • Receptors, Interleukin-12 / genetics
  • Recurrence

Substances

  • IL12RB1 protein, human
  • Receptors, Interleukin-12