Interferon-γ and interleukin-12 pathway defects and human disease
Open accessAbstract
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.
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Deletions within the p40 gene have been observed in patients suffering from concurrent multiple bacterial infections.
“Deletions within the p40 gene have been observed in patients suffering from concurrent multiple bacterial infections (46, 47).”
From Macrophage Cytokines: Involvement in Immunity and Infectious Diseases (2014) · cites this paper as [46]
The involvement of IL-12 in these processes has made it a target in both auto-immune pathologies and cancer.
“The involvement of this cytokine in these processes has made it a target in both auto-immune pathologies and cancer (46, 47).”
From Macrophage Cytokines: Involvement in Immunity and Infectious Diseases (2014) · cites this paper as [46]
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References 97 · Cited by 336
- Authors
- Dorman, S. E., & Holland, S. M.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Holland, Steven M
- Venue
- Cytokine & Growth Factor Reviews
- Publisher
- Elsevier BV
- Published
- 2000-12
- Volume
- 11
- Issue
- 4
- Pages
- 321-333
- ISSN
- 1359-6101 (ISSN-L)
- OpenAlex
- W2080385201
- Cited by
- 336
- References
- 97
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 8 · 2023: 5 · 2022: 8 · 2021: 5 · 2020: 6 · 2019: 10 · 2018: 7 · 2017: 11 · 2016: 16 · 2015: 19 · 2014: 15 · 2013: 11 · 2012: 13
- FWCI
- 1.59
- Type
- journal article
- Language
- en
- Open access
- green
- zenodo.org
- Licence
- public-domain
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- Locations
- Cytokine & Growth Factor Reviews (publishedVersion)
- PubMed (publishedVersion)
- Zenodo (CERN European Organization for Nuclear Research) (submittedVersion, public-domain)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Infectious Diseases › Tuberculosis Research and Epidemiology
- Life Sciences › Immunology and Microbiology › Immunology › Immune responses and vaccinations
- Keywords
- interferon-gamma receptor, IL-12p40, nontuberculous mycobacteria, BCG infection, salmonellosis, intracellular pathogens, host defense, genotype-phenotype correlation, primary immunodeficiency
- MeSH terms
- Interferon gamma Receptor, Animals, Humans, Interferon-gamma, Mutation, Mycobacterium Infections, Tuberculosis, Receptors, Interferon, Receptors, Interleukin, Mice, Knockout, Interleukin-12, Mice, Receptors, Interleukin-12
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