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Open access Aug 2026

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

STAT1 defects present with diverse clinical phenotypes. Thiagarajan et al. describe an unusual genotype/phenotype: disseminated mycobacterial infection without CMC in the context of a pathogenic STAT1 GOF variant (p.Lys388Glu).

Kavitha Thiagarajan, H. V. Dong, C. Kuo et al. · 0 citations

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