Research Letter
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).
Article
Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation
Baker et al. report an inborn error of immunity resulting from a genomic translocation. A 13-year-old male is identified with complex symptoms including those consistent with familial chilblain lupus. Iterative genetic testing identifies loss of expression of the interferonopathy gene SAMHD1 resulting from a unique homozygous balanced translocation between chromosome 17 and chromosome 20.
