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

Susan E. Dorman; Steven M. Holland

doi:10.1016/S1359-6101(00)00010-1

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

Susan E. Dorman, Steven M. Holland

Research output: Contribution to journal › Review article › peer-review

267 Scopus citations

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 language	English (US)
Pages (from-to)	321-333
Number of pages	13
Journal	Cytokine and Growth Factor Reviews
Volume	11
Issue number	4
DOIs	https://doi.org/10.1016/S1359-6101(00)00010-1
State	Published - 2000
Externally published	Yes

Keywords

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

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Immunology and Allergy
Immunology
General Biochemistry, Genetics and Molecular Biology

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10.1016/S1359-6101(00)00010-1

Cite this

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AU - Dorman, Susan E.

AU - Holland, Steven M.

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Y1 - 2000

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AB - 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.

KW - Interferon-gamma

KW - Interferon-gamma receptor deficiency

KW - Interleukin-12

KW - Mycobacteria

KW - Tuberculosis

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JO - Cytokine and Growth Factor Reviews

JF - Cytokine and Growth Factor Reviews

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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