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Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency.

Donald C Vinh, Fares Masannat, Robert B Dzioba, John N Galgiani, Steven M Holland
Clinical Infectious Diseases 2009 September 16
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.

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