STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection

Signal transducer and activator of transcription 1 (STAT1) defects present with diverse clinical phenotypes. We describe an unusual genotype/phenotype: disseminated mycobacterial infection without chronic mucocutaneous candidiasis in the context of a pathogenic STAT1 gain-of-function variant (p.Lys3