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

Susan E. Dorman, Steven M. Holland

Research output: Contribution to journalReview articlepeer-review

267 Scopus citations


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
Issue number4
StatePublished - 2000
Externally publishedYes


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

ASJC Scopus subject areas

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


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