RE is primarily catalysed by dsRBP ADAR1 (and ADAR2), and SAAVs stemming from genomic missense mutations are associated with rare genetic pigmentation disorders and autoimmune diseases, such as Dyschromatosis symmetrica hereditaria and Aicardi-Goutières syndrome (Wright and Vissel, 2012). The gene discussed is ADAR; the disease is Aicardi-Goutières syndrome.