title: Type I interferonopathies--an expanding disease spectrum of immunodysregulation.
abstract: Type I interferons (IFNs) play a central role in the immune defense against viral infections. Type I IFN signaling is activated by pattern recognition receptors upon sensing of viral nucleic acids and induces antiviral programs through modulation of innate and adaptive immune responses. Type I interferonopathies comprise a heterogenous group of genetically determined diseases that are characterized by inappropriate activation of type I IFN. While their phenotypic spectrum is broad, ranging from severe neurological impairment to mild cutaneous disease, systemic autoinflammation, and autoimmunity are commonly shared signs of type I interferonopathies. Although the mechanisms underlying various disease phenotypes associated with inappropriate type I IFN activation have yet to be fully elucidated, our current understanding of the molecular pathogenesis of type I interferonopathies has provided a set of candidate molecules that can be interrogated in search of targeted therapies.
authors.affiliation: Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, 01307, Dresden, Germany, minae.lee-kirsch@uniklinikum-dresden.de.
authors.forename: Min Ae
authors.initials: MA
authors.lastname: Lee-Kirsch
authors.forename: Christine
authors.initials: C
authors.lastname: Wolf
authors.forename: Stefanie
authors.initials: S
authors.lastname: Kretschmer
authors.forename: Axel
authors.initials: A
authors.lastname: Roers
mesh_terms: D000818:Animals; D001327:Autoimmune Diseases / Q000209:etiology / Q000378:metabolism / Q000628:therapy; D004198:Disease Susceptibility / Q000209:etiology / Q000378:metabolism; D056660:Hereditary Autoinflammatory Diseases / Q000209:etiology / Q000378:metabolism / Q000628:therapy; D054884:Host-Pathogen Interactions / Q000235:genetics / Q000276:immunology; D006801:Humans; D007249:Inflammation / Q000209:etiology / Q000378:metabolism / Q000628:therapy; D007370:Interferon Type I / Q000378:metabolism*; D011971:Receptors, Immunologic / Q000378:metabolism; D015398:Signal Transduction
chemical_list: D007370:Interferon Type I; D011971:Receptors, Immunologic