Type I interferon–mediated monogenic autoinflammation: the type I interferonopathies, a conceptual overview

MP Rodero, YJ Crow - Journal of Experimental Medicine, 2016 - rupress.org
MP Rodero, YJ Crow
Journal of Experimental Medicine, 2016rupress.org
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 …
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.
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