Open access
STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection
Kavitha Thiagarajan
H. V. Dong
C. Kuo
T. Thauland
S. Pullarkat
M. Butte
M. Garcia-Lloret
K. Nielsen-Saines
Medicine
Abstract
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).