Fig. 5

Mean change from baseline in IFN gene score across patients with NNS/CANDLE and AGS. AGS = Aicardi-Goutières syndrome; IFN = interferon; LOCF = last observation carried forward; NNS/CANDLE = Nakajo-Nishimura syndrome/chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; SAVI = STING-associated vasculopathy with onset during infancy; SLE = Systemic Lupus Erythematosus; STING = stimulator of interferon genes. Note: Genes including OAS3, IFI44, MX1, USP18, LY6E, and DDX60 were used to calculate the IFN gene signature. The IFN signature score is composed of a 6-gene IFN signature assays from 28 IFN Response Genes of the ModaPlex platform. A 6-gene IFN signature assay was developed by Lilly based on data from more than 2000 SLE patients. The final ModaPlex assay is parameterized to separate IFN-high and IFN-low patients with a cut point of 0 where each gene is scaled to have the same range. A difference of 1 point in the IFN signature correlates with twice the difference in gene concentration. LOCF data were used for imputation. For patients with SAVI, samples were not obtained due to young age; therefore, no patients had both baseline and postbaseline measurements of IFN gene signature