Refractory Disseminated Coccidioidomycosis and Mycobacteriosis in Interferon-γ Receptor 1 Deficiency


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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-γ receptor 1 deficiency caused by a heterozygous IFNGR1 818del4 mutation. Therefore, the interleukin-12/interferon-γ axis appears to be critical for control of coccidioidomycosis.

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