Abstract

Dissection of the genetic basis of Aicardi-Goutières syndrome has highlighted a fundamental link between nucleic acid metabolism and type I interferon induction, leading to the concept of the human interferonopathies, a broader set of Mendelian disorders where disease pathology relates to a primary upregulation of type I interferon activity. Here we discuss the clinical phenotypes associated with these novel inborn errors of immunity, their pathological basis, and strategies for their treatment.