Genetic lesions of type I interferon signalling in human antiviral immunity

Christopher J.A. Duncan, Richard E. Randall, Sophie Hambleton

Research output: Contribution to journalReview articlepeer-review

51 Citations (Scopus)
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The concept that type I interferons (IFN-I) are essential to antiviral immunity derives from studies on animal models and cell lines. Virtually all pathogenic viruses have evolved countermeasures to IFN-I restriction, and genetic loss of viral IFN-I antagonists leads to virus attenuation. But just how important is IFN-I to antiviral defence in humans? The recent discovery of genetic defects of IFN-I signalling illuminates this and other questions of IFN biology, including the role of the mucosa-restricted type III IFNs (IFN-III), informing our understanding of the place of the IFN system within the concerted antiviral response. Here we review monogenic lesions of IFN-I signalling pathways and summarise the organising principles which emerge.
Original languageEnglish
Pages (from-to)46-58
Number of pages13
JournalTrends in Genetics
Issue number1
Early online date22 Sept 2020
Publication statusPublished - Jan 2021


  • Type I interferons
  • Interferon-stimulated genes
  • JAK–STAT signalling
  • Inborn errors of immunity
  • Antiviral immunity


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