Functional characterization of IFNAR1 variants. Luciferase activity in IFNAR1−/− HEK293T cells transiently transfected with WT or mutant IFNAR1 cDNA constructs, together with an ISRE firefly luciferase reporter and a constitutively expressed Renilla luciferase reporter, stimulated with IFN-α2 (1,000 U/ml), IFN-ω (1 ng/ml), or IFN-β (100 U/ml) for 24 h. The specific response to IFN stimulation was calculated by determining the ratio of firefly luciferase activity to Renilla luciferase activity (RLU, relative luciferase ratio). Variants found only in the HGID cohort are indicated in black, variants unique to gnomAD are indicated in red, and variants common to both are indicated in blue. Hypomorphic or LOF variants are indicated by a red bar. The red line shows the 50% cutoff. NT, non-transfected; EV, empty vector. Graphs depict the mean ± SEM of two independent experiments.
Figure 1.

Functional characterization of IFNAR1 variants. Luciferase activity in IFNAR1−/− HEK293T cells transiently transfected with WT or mutant IFNAR1 cDNA constructs, together with an ISRE firefly luciferase reporter and a constitutively expressed Renilla luciferase reporter, stimulated with IFN-α2 (1,000 U/ml), IFN-ω (1 ng/ml), or IFN-β (100 U/ml) for 24 h. The specific response to IFN stimulation was calculated by determining the ratio of firefly luciferase activity to Renilla luciferase activity (RLU, relative luciferase ratio). Variants found only in the HGID cohort are indicated in black, variants unique to gnomAD are indicated in red, and variants common to both are indicated in blue. Hypomorphic or LOF variants are indicated by a red bar. The red line shows the 50% cutoff. NT, non-transfected; EV, empty vector. Graphs depict the mean ± SEM of two independent experiments.

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