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

干扰素-γ受体1缺乏症中的难治性播散性球孢子菌病和分枝杆菌病

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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.

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