Abstract
Mutations in the interferon (IFN)-gamma receptor predispose to infection with bacille Calmette-Guérin, nontuberculous mycobacteria, and Salmonella organisms. We identified a patient with recurrent disseminated Histoplasma capsulatum osteomyelitis who had an autosomal dominant form of IFN-gamma receptor 1 deficiency (i.e., a 4-bp deletion at or near base 818). IFN-gamma-mediated immunity is important in the control of histoplasmosis.
MeSH terms
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Child, Preschool
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Histoplasma*
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Histoplasmosis / immunology*
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Humans
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Immunocompromised Host / genetics*
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Interferon gamma Receptor
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Male
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Mutation
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Osteomyelitis / microbiology*
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Receptors, Interferon / deficiency*
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Receptors, Interferon / genetics
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Receptors, Interleukin / deficiency
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Receptors, Interleukin / genetics
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Receptors, Interleukin-12
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Recurrence
Substances
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Receptors, Interferon
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Receptors, Interleukin
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Receptors, Interleukin-12