In humans, monoallelic pathogenic variations of ADAR1 cause dyschromatosis symmetrica hereditaria (DSH: MIM # 127400, characterized by hyper- and hypo-pigmented macules on the extremities that appear in infancy) [5,6], and biallelic variations or a specific dominant-negative substitution in ADAR1 result in a spectrum of neuroinflammatory phenotypes including Aicardi-Goutières syndrome (AGS, MIM# 615010), a genetically determined inflammatory encephalopathy ascribed to the group of type 1 interferonopathies [7,8,9,10,11]. Here, ADAR is linked to Aicardi-Goutières syndrome.