Type I Interferonopathies

  • Cécile Frachette
  • Rolando Cimaz
  • Alexandre BelotEmail author
Part of the Rare Diseases of the Immune System book series (RDIS)


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.


Type I interferon Autoinflammatory diseases Transcriptome Genetic TREX1 Aicardi-Goutières Syndrome 


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© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Cécile Frachette
    • 1
  • Rolando Cimaz
    • 2
    • 3
  • Alexandre Belot
    • 1
    • 4
    Email author
  1. 1.Pediatric Nephrology, Rheumatology, Dermatology Unit, Hospital Femme Mère Enfant, Hospices Civils de LyonUniversity of LyonLyonFrance
  2. 2.Department of Clinical Sciences and Community HealthUniversity of MilanoMilanoItaly
  3. 3.ASST-Gaetano PiniMilanoItaly
  4. 4.Innate Immunity in Infectious and Autoimmune DiseasesINSERM, U1111LyonFrance

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