“…Patients may also develop signs of autoimmunity, including cytopenia, autoantibodies, arthritis, and peripheral vasculitis (35). AGS is a genetically heterogeneous disease caused by biallelic LoF mutations in genes involved in nucleic acid metabolism, including TREX1 (32, 33), RNASEH2A, RNASEH2B, RNASEH2C (23,32,34), SAMHD1 (32,133,134), and ADAR (32,134), or by a monoallelic GoF mutation in the dsRNA sensor IFIH1/MDA5 (25,32). Defects in these nucleases, nucleic acid modifiers, and sensors result in inappropriate activation of the IFN-I pathways.…”