Aicardi-Goutières syndrome (AGS) is a rare hereditary leukodystrophy, named after Jean Aicardi and Françoise Goutières, who first described it in 1984 1. To date, causative mutations have been identified in seven genes: TREX1, RNASEH2B, RNASEH2C, RNASEH2A, ADAR1, SAMHD1, IFIH1 2. The disease pathophysiology is based on a “fundamental link between nucleic acid metabolism, innate immune sensors and type I interferon induction” 3.
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