Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis

We identified a novel gain of function mutation in STAT1 in a patient with disseminated Apophysomyces trapeziformis infection who had never had mucocutaneous candidiasis or autoimmunity. To our knowledge this is the first report of a genetic predisposition associated with mucormycosis.