Abstract
Type-I interferon (IFN)-mediated immune response involves both innate and adaptive immune systems and has a pivotal role in antiviral defense. The observation of an aberrant stimulation of this system as a common molecular basis in peculiar inherited autoimmune and autoinflammatory disorders led to the concept of “type I interferonopathies.” These latter diseases can be associated with recurrent fever and a large number of symptoms with an extremely broad phenotype, from an isolated increase of IFN-stimulated genes in whole blood without clinical symptoms to a severe neonatal encephalopathy. Here we review the main clinical features of this emerging entity and discuss the management for diagnosis and treatment.
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Frachette, C., Cimaz, R., Belot, A. (2020). Type I Interferonopathies. In: Cimaz, R. (eds) Periodic and Non-Periodic Fevers. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-030-19055-2_14
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DOI: https://doi.org/10.1007/978-3-030-19055-2_14
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