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Published on: September 27, 2018
STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection
Kavitha Thiagarajan1,2, Huan Vinh Dong3, Caroline Y Kuo1
1Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA, USA.
Abstract:
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.
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