Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency

Abstract

Mutations in the interferon (IFN)-gamma receptor predispose to infection with bacille Calmette-Guérin, nontuberculous mycobacteria, and Salmonella organisms. We identified a patient with recurrent disseminated Histoplasma capsulatum osteomyelitis who had an autosomal dominant form of IFN-gamma receptor 1 deficiency (i.e., a 4-bp deletion at or near base 818). IFN-gamma-mediated immunity is important in the control of histoplasmosis.