Skip to main content
STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection
Published Web Location
https://doi.org/10.70962/jhi.20250139Abstract
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.Lys388Glu). To our knowledge, this is the first report of such a case.
Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.