title: Type I interferonopathies: a novel set of inborn errors of immunity.
abstract: The concept of grouping Mendelian disorders associated with an upregulation of type I interferon is not currently recognized in the medical literature. Here, we argue that such a concept has scientific validity and clinical utility. Specifically, we discuss a group of conditions, including Aicardi-Goutières syndrome, spondyloenchondrodysplasia, and cases of systemic lupus erythematosus with complement deficiency, in which an upregulation of type I interferons is apparently central to their pathogenesis. We believe that these diseases can usefully be considered to represent a novel set of inborn errors of immunity, and that the recognition of such diseases as type I interferonopathies will have significance in the development and use of targeted therapies.
authors: Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, United Kingdom. yanickcrow@mac.com
authors: Yanick J
authors: YJ
authors: Crow
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology; D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics / Q000276:immunology; D003165:Complement System Proteins / Q000172:deficiency; D006801:Humans; D007109:Immunity; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology* / Q000628:therapy; D007370:Interferon Type I / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D008180:Lupus Erythematosus, Systemic / Q000235:genetics / Q000276:immunology; D009421:Nervous System Malformations / Q000235:genetics / Q000276:immunology; D010009:Osteochondrodysplasias / Q000235:genetics / Q000276:immunology; D015854:Up-Regulation
chemical_list: D007370:Interferon Type I; D003165:Complement System Proteins