To date, pathogenic variants associated with typical AGS have been reported in nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RNU7–1) (4–11). This evidence concerns the gene SAMHD1 and Aicardi-Goutieres syndrome.