Human germline pathogenic TREX1 mutations have been associated with a number of hereditary autoimmune and autoinflammatory disorders, including RCVL, Aicardi–Goutières syndrome (AGS), systemic lupus erythematosus (SLE), familial chilblain lupus (FCL), and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [3, 27, 36, 37]. This evidence concerns the gene TREX1 and Aicardi-Goutieres syndrome.