ID: 5: Human type I interferonopathies
The dissection of the genetic basis of the rare inflammatory phenotype Aicardi-Goutieres syndrome (AGS), and the ongoing definition of a primary link between nucleic acid metabolism and interferon signaling, led to the proposition, in 2011, of the grouping of Mendelian disorders associated with an up-regulation of type I interferon as a novel set of inborn errors of immunity, in which such up-regulation is central to pathogenesis. I will provide a brief update on these human type I interferonopathies, which I suggest can be usefully considered together at a clinical and pathological level, with the implication being that common treatment modalities might be applicable in the future.