Quantitative RT-PCR of a panel of six ISGs in whole blood measured in individuals with AGS, their parents and individuals with DSH. Scatter plots showing log10-transformed RQ values for a panel of 6 ISGs measured in whole blood from 10 AGS cases with mutations in ADAR1, 6 sets of parents heterozygous for mutations in ADAR1, 18 individuals with ADAR1 mutation–positive DSH and 20 healthy controls. All genes were significantly upregulated in AGS cases (P < 0.001) compared to controls. RQ is equal to 2−ΔΔCT, with −ΔΔCT ± s.d., that is the normalized fold change relative to a calibrator. ***P ≤ 0.001; **P ≤ 0.01; *P < 0.05.