Consistent with the critical role of TREX1 in preventing aberrant immune responses, mutations in TREX1 can cause functional loss or mislocalization, and are linked to a range of chronic inflammatory and autoimmune conditions in humans including: systemic lupus erythematosus (SLE), familial chilblain lupus (FCL), Aicardi-Goutières syndrome (AGS), and retinal vasculopathy with cerebral leukoencephalopathy (RVCL) [10–16]. Here, TREX1 is linked to Aicardi-Goutières syndrome.