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.
· Journal of human immunity · 0 citations