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We investigated five children from Greenland, Canada, and Alaska presenting with viral diseases, including life-threatening COVID-19 or influenza, in addition to meningoencephalitis and\/or hemophagocytic lymphohistiocytosis following live-attenuated viral vaccination. The affected individuals bore the same homozygous IFNAR2 c.157T&amp;gt;C, p.Ser53Pro missense variant. Although absent from reference databases, p.Ser53Pro occurred with a minor allele frequency of 0.034 in their Inuit ancestry. The serine to proline substitution prevented cell surface expression of IFNAR2 protein, small amounts of which persisted intracellularly in an aberrantly glycosylated state. Cells exclusively expressing the p.Ser53Pro variant lacked responses to recombinant IFN-I and displayed heightened vulnerability to multiple viruses in vitro\u2014a phenotype rescued by wild-type IFNAR2 complementation. This novel form of autosomal recessive IFNAR2 deficiency reinforces the essential role of IFN-I in viral immunity. Further studies are warranted to assess the need for population screening.<\/jats:p>","DOI":"10.1084\/jem.20212427","type":"journal-article","created":{"date-parts":[[2022,4,20]],"date-time":"2022-04-20T13:39:07Z","timestamp":1650461947000},"update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":90,"title":["Life-threatening viral disease in a novel form of autosomal recessive <i>IFNAR2<\/i> deficiency in the Arctic"],"prefix":"10.1084","volume":"219","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4181-2315","authenticated-orcid":true,"given":"Christopher J.A.","family":"Duncan","sequence":"first","affiliation":[{"name":"Clinical and Translational Research Institute, Immunity and Inflammation Theme, Newcastle University, Newcastle upon Tyne, UK 1"},{"name":"The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK 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