Fig. 3.

Type I interferon induction is associated with a Gln517His heterozygous DDX58 variant. a Interferon-beta luciferase assay following transient transfection of HEK293 cells demonstrated significantly elevated basal and poly I:C stimulated interferon induction in both the Gln517His mutant and the previously described Glu373Ala mutant relative to WT expression. b Gene expression of selected 28 interferon-stimulated genes (ISGs) was assayed, and an IFN-score was calculated. Mean and SD of the IFN score are depicted in parenthesis for each group of individuals. HC: healthy controls; NOMID: neonatal-onset multisystem inflammatory disease; CANDLE: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; SAVI: STING-associated vasculopathy with onset in infancy; 4088: proband’s son; 4089: proband