In human, loss-of-function mutations in TREX1 trigger autoimmune diseases, such as Aicardi–Goutières syndrome (AGS), systemic lupus erythematosus (SLE), familial chilblain lupus (FCL), and retinal vasculopathy with cerebral leukodystrophy (RVCL) (84, 85). This evidence concerns the gene TREX1 and Aicardi-Goutieres syndrome.