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Clin Infect Dis. 2009 Sep 15;49(6):e62-5. doi: 10.1086/605532.

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

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  • 1Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892-1684, USA.

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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