Elisa Fazzi

TL;DR: It is shown that mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutières syndrome (AGS), and it is speculated that ADar1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.

TL;DR: Mutations in SAMHD1 are described as the cause of Aicardi-Goutières syndrome at the AGS5 locus and data is presented to show that SAM HD1 may act as a negative regulator of the cell-intrinsic antiviral response.

TL;DR: It is shown that AGS can result from mutations in the genes encoding any one of its three subunits, demonstrating a role for ribonuclease H in human neurological disease and suggesting an unanticipated relationship between ribonUClease H2 and the antiviral immune response that warrants further investigation.

TL;DR: It is demonstrated that aberrant sensing of nucleic acids can cause immune upregulation and heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state.

TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.