Abstract
Severe coccidioidomycosis is rare, and specific genetic susceptibility to the disease remains unidentified. We describe a patient with disseminated recalcitrant coccidioidomycosis with autosomal dominant interferon-gamma receptor 1 deficiency caused by a heterozygous IFNGR1 818del4 mutation. Therefore, the interleukin-12/interferon-gamma axis appears to be critical for control of coccidioidomycosis.
Publication types
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Case Reports
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
MeSH terms
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Anti-Bacterial Agents / pharmacology
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Anti-Bacterial Agents / therapeutic use
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Antifungal Agents / pharmacology
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Antifungal Agents / therapeutic use
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Coccidioidomycosis / drug therapy*
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Coccidioidomycosis / genetics
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Coccidioidomycosis / immunology*
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Drug Resistance, Bacterial
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Drug Resistance, Fungal
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Genes, Dominant
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Genetic Predisposition to Disease / genetics*
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Humans
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Immunocompromised Host
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Interferon gamma Receptor
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Interferon-gamma / genetics
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Interferon-gamma / metabolism
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Interleukin-12 / genetics
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Interleukin-12 / metabolism
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Male
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Mutation
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Mycobacterium Infections / drug therapy*
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Mycobacterium Infections / genetics
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Mycobacterium Infections / immunology*
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Receptors, Interferon / deficiency*
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Receptors, Interferon / genetics*
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Treatment Failure
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Young Adult
Substances
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Anti-Bacterial Agents
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Antifungal Agents
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Receptors, Interferon
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Interleukin-12
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Interferon-gamma