Fig. 15

Loss-of-function mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, or ADAR1 in patients with Aicardi–Goutières syndrome (AGS). Loss-of-function mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, or ADAR1 results in the accumulation of nucleic acids which leads to the induction of IRF transcription