Type I Interferonopathies

Abstract

Type-I interferon (IFN)-mediated immune response involves both innate and adaptive immune systems and has a pivotal role in antiviral defense. The observation of an aberrant stimulation of this system as a common molecular basis in peculiar inherited autoimmune and autoinflammatory disorders led to the concept of “type I interferonopathies.” These latter diseases can be associated with recurrent fever and a large number of symptoms with an extremely broad phenotype, from an isolated increase of IFN-stimulated genes in whole blood without clinical symptoms to a severe neonatal encephalopathy. Here we review the main clinical features of this emerging entity and discuss the management for diagnosis and treatment.