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

Susan E. Dorman, Steven M. Holland

Research output: Contribution to journalArticle

Abstract

A genetic component to human mycobacterial disease susceptibility has long been postulated. Over the past five years, mutations in the interferon-γ (IFNγ) receptor, IL-12 receptor β1 (IL-12Rβ1), 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 IFNγ receptor, IL-12Rβ1, 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.

Original languageEnglish (US)
Pages (from-to)321-333
Number of pages13
JournalCytokine and Growth Factor Reviews
Volume11
Issue number4
DOIs
StatePublished - 2000
Externally publishedYes

Fingerprint

Interleukin-12 Receptors
Interferon Receptors
Disease Susceptibility
Interleukin-12
Interferons
Pathogens
Nontuberculous Mycobacteria
Defects
Mutation
Genetic Association Studies
Mycobacterium
Salmonella
Vaccines
Viruses
Genes
adjuvant P40

Keywords

  • Interferon-gamma
  • Interferon-gamma receptor deficiency
  • Interleukin-12
  • Mycobacteria
  • Tuberculosis

ASJC Scopus subject areas

  • Immunology
  • Endocrinology, Diabetes and Metabolism
  • Immunology and Allergy
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Interferon-γ and interleukin-12 pathway defects and human disease. / Dorman, Susan E.; Holland, Steven M.

In: Cytokine and Growth Factor Reviews, Vol. 11, No. 4, 2000, p. 321-333.

Research output: Contribution to journalArticle

Dorman, Susan E. ; Holland, Steven M. / Interferon-γ and interleukin-12 pathway defects and human disease. In: Cytokine and Growth Factor Reviews. 2000 ; Vol. 11, No. 4. pp. 321-333.
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