how do coding variants in ifih1 cause diseases

Non-synonymous coding variants of IFIH1 have been associated with various autoimmune phenotypes, most particularly type 1 diabetes (T1D). 1 Cellular and biochemical assays indicate that these mutations confer gain of function such that mutant IFIH1 binds RNA more avidly, leading to increased baseline and ligand-induced interferon signaling. 2 This suggests that coding variants in IFIH1 can cause diseases by aberrant sensing of nucleic acids, resulting in immune upregulation. 2