Interferon-gamma and interleukin-12 pathway defects and human disease

Cytokine Growth Factor Rev. 2000 Dec;11(4):321-33. doi: 10.1016/s1359-6101(00)00010-1.

Abstract

A genetic component to human mycobacterial disease susceptibility has long been postulated. Over the past five years, mutations in the interferon-gamma (IFNgamma) receptor, IL-12 receptor beta1 (IL-12Rbeta1), and IL-12 p40 genes have been recognized. These mutations are associated with heightened susceptibility to disease caused by intracellular pathogens including nontuberculous mycobacteria, vaccine-associated bacille Calmette Guerin (BCG), Salmonella species, and some viruses. We describe the genotype-phenotype correlations in IFNgamma receptor, IL-12Rbeta1, and IL-12 p40 deficiency, and discuss how study of these diseases has enhanced knowledge of human host defense against mycobacteria and other intracellular pathogens.

Publication types

  • Review

MeSH terms

  • Animals
  • Humans
  • Interferon-gamma / deficiency
  • Interferon-gamma / genetics*
  • Interferon-gamma / physiology
  • Interleukin-12 / deficiency
  • Interleukin-12 / genetics*
  • Interleukin-12 / physiology
  • Mice
  • Mice, Knockout
  • Mutation
  • Mycobacterium Infections / etiology
  • Receptors, Interferon / deficiency
  • Receptors, Interferon / genetics
  • Receptors, Interferon / physiology
  • Receptors, Interleukin / deficiency
  • Receptors, Interleukin / genetics
  • Receptors, Interleukin / physiology
  • Receptors, Interleukin-12
  • Tuberculosis / etiology

Substances

  • IL12RB1 protein, human
  • Il12rb1 protein, mouse
  • Receptors, Interferon
  • Receptors, Interleukin
  • Receptors, Interleukin-12
  • interferon gamma receptor
  • Interleukin-12
  • Interferon-gamma