Mendelian susceptibility to mycobacterial infection in man

Curr Opin Immunol. 1998 Aug;10(4):413-7. doi: 10.1016/s0952-7915(98)80114-3.


Selective susceptibility to poorly pathogenic mycobacteria, such as bacille Calmette-Guérin vaccine and environmental non-tuberculous mycobacteria, has long been suspected to be a mendelian disorder but its molecular basis has remained elusive. Recently, recessive mutations in the interferon-gamma-receptor receptor ligand-binding chain, interferon-gamma-receptor signalling chain, IL-12 p40 subunit and IL-12-receptor beta 1 chain genes have been identified in a number of patients with disseminated mycobacterial infection. Although genetically distinct, these conditions are immunologically related and highlight the essential role of interferon-gamma-mediated immunity in the control of mycobacteria in man.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genetic Predisposition to Disease / genetics
  • Humans
  • Interferon-gamma / deficiency
  • Interleukin-12 / deficiency
  • Mycobacterium Infections / genetics*
  • Mycobacterium Infections / immunology
  • Receptors, Interleukin / deficiency
  • Receptors, Interleukin-12


  • Receptors, Interleukin
  • Receptors, Interleukin-12
  • Interleukin-12
  • Interferon-gamma