Abstract
In the last 6 years, considerable advances have been made in the molecular analysis of a rare clinical syndrome: Mendelian susceptibility to mycobacterial disease (MSMD). Infection with poorly virulent environmental non-tuberculous mycobacteria (NTM) or vaccination with bacillus Calmette-Guerin (BCG) may cause disseminating and even fatal disease in individuals suffering from this syndrome. Mutations in five genes (IFNGR1, IFNGR2, STAT1, IL12B and IL12RB1) have been shown to be responsible for MSMD and further allelic heterogeneity accounts for the existence of nine distinct inherited disorders. All of these disorders are caused by impaired IFNgamma-mediated immunity. These results have important medical and biological implications. In this report, we update the disease-causing mutations reported in the literature.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Child
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DNA-Binding Proteins / genetics
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Genetic Predisposition to Disease
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Humans
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Immunity
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Interferon gamma Receptor
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Interferon-gamma / physiology*
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Interleukin-12 / physiology*
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Interleukin-12 Subunit p40
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Interleukins / genetics
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Mutation
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Mycobacterium Infections / genetics*
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Mycobacterium Infections / immunology
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Receptors, Interferon / genetics
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Receptors, Interleukin / genetics
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Receptors, Interleukin-12
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STAT1 Transcription Factor
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Syndrome
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Trans-Activators / genetics
Substances
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DNA-Binding Proteins
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IL12B protein, human
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IL12RB1 protein, human
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Interleukin-12 Subunit p40
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Interleukins
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Receptors, Interferon
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Receptors, Interleukin
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Receptors, Interleukin-12
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STAT1 Transcription Factor
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STAT1 protein, human
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Trans-Activators
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Interleukin-12
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Interferon-gamma