Human deficiencies in type 1 cytokine receptors reveal the essential role of type 1 cytokines in immunity to intracellular bacteria

Microbes Infect. 2000 Nov;2(13):1559-66. doi: 10.1016/s1286-4579(00)01312-5.

Abstract

Studies on patients with idiopathic, severe infections due to poorly pathogenic mycobacteria and Salmonella have revealed that many of these patients are unable to produce or respond to interferon-gamma (IFN-gamma). This inability results from causative, deleterious genetic mutations in either one of four different genes in the type 1 cytokine cascade, encoding interleukin-12Rbeta1 (IL-12Rbeta1), IL-12p40, IFN-gammaR1 or IFN-gammaR2. The immunological phenotypes resulting from the seven groups of complete or partial deficiencies in type 1 cytokine (receptor) genes that have been distinguished thus far will be summarized and discussed, and placed in a broader context in relation to disease susceptibility.

Publication types

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

MeSH terms

  • Bacterial Infections / genetics
  • Bacterial Infections / immunology*
  • Cytokines / genetics
  • Cytokines / physiology*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Immunity, Cellular*
  • Interferon gamma Receptor
  • Interleukin-12 / deficiency
  • Interleukin-12 / genetics
  • Mutation
  • Mycobacterium Infections / genetics
  • Mycobacterium Infections / immunology
  • Receptors, Cytokine / deficiency
  • Receptors, Cytokine / genetics*
  • Receptors, Interferon / deficiency
  • Receptors, Interferon / genetics
  • Receptors, Interleukin / deficiency
  • Receptors, Interleukin / genetics
  • Salmonella Infections / genetics
  • Salmonella Infections / immunology

Substances

  • Cytokines
  • Receptors, Cytokine
  • Receptors, Interferon
  • Receptors, Interleukin
  • Interleukin-12