Mutations in TREX1 have been associated with a broad spectrum of autoimmune and inflammatory phenotypes, including Aicardi-Goutières syndrome (AGS), familial chilblain lupus (FCL), systemic lupus erythematosus (SLE), and retinal vasculopathy with cerebral leukodystrophy (RVCL) (Crow and Rehwinkel, 2009). This evidence concerns the gene TREX1 and Aicardi-Goutieres syndrome.