Purpose of the review: Type I interferonopathies are monogenic autoinflammatory diseases induced by constitutive activation of type I interferon. Here, we provide an overview of these diseases and describe underlying molecular pathways, related phenotypes, suggestive clinical signs and investigations for helping diagnosis process and therapeutic management.
Recent findings: Recent genetic and functional discoveries have enabled deciphering mechanisms involved in the pathogenesis of the type I interferonopathies and considering promising targeted treatments, such as JAK inhibitors, both for monogenic and multifactorial interferon-related diseases. The concept of the type I interferonopathies rests on the assumption that some diseases arise from a disturbance of interferon signalling pathway. In the presence of suggestive clinical signs (especially involving the central nervous system and the skin), a consistent positive type I interferon assessment is a further point in favour of genetic investigations in patients. This review also highlights the potential value of targeted therapeutics that should improve features of type I interferonopathies, thereby providing a validation of the underlying hypothesis.
Keywords: Autoimmunity; Autoinflammation; JAK inhibitors; Reverse-transcriptase inhibitors; Type I interferon; Type I interferonopathies.