Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview.
Type I interferon is a potent substance. As such, the induction, transmission, and resolution of the type I interferon-mediated immune response are tightly regulated. As defined, the type I interferonopathies represent discrete examples of a disturbance of the homeostatic control of this system caused by Mendelian mutations. Considering the complexity of the interferon response, the identification of further monogenic diseases belonging to this disease grouping seems likely, with the recognition of type I interferonopathies becoming of increasing clinical importance as treatment options are developed based on an understanding of disease pathology and innate immune signaling. Definition of the type I interferonopathies indicates that autoinflammation can be both interferon and noninterferon related, and that a primary disturbance of the innate immune system can "spill over" into autoimmunity in some cases. Indeed, that several non-Mendelian disorders, most particularly systemic lupus erythematosus and dermatomyositis, are also characterized by an up-regulation of type I interferon signaling suggests the possibility that insights derived from this work will have relevance to a broader field of clinical medicine.
INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, 75015 Paris, France.
Mathieu P
0000-0002-1300-0187
MP
Rodero
INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, 75015 Paris, France yanickcrow@mac.com.|Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Hôpital Necker, 75015 Paris, France.|Faculty of Biology, Medicine, and Health, Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, England, UK.
Yanick J
0000-0001-7211-7564
YJ
Crow
D000818:Animals; D015551:Autoimmunity / Q000276:immunology; D006801:Humans; D007249:Inflammation / Q000473:pathology* / Q000628:therapy; D007370:Interferon Type I / Q000378:metabolism*; D008954:Models, Biological; D019683:Penetrance; D010641:Phenotype
D007370:Interferon Type I