دورية أكاديمية
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
| العنوان: | Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic. |
|---|---|
| المؤلفون: | Duncan CJA; Clinical and Translational Research Institute, Immunity and Inflammation Theme, Newcastle University, Newcastle upon Tyne, UK.; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Skouboe MK; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark., Howarth S; Clinical and Translational Research Institute, Immunity and Inflammation Theme, Newcastle University, Newcastle upon Tyne, UK., Hollensen AK; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark., Chen R; Clinical and Translational Research Institute, Immunity and Inflammation Theme, Newcastle University, Newcastle upon Tyne, UK., Børresen ML; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark., Thompson BJ; Clinical and Translational Research Institute, Immunity and Inflammation Theme, Newcastle University, Newcastle upon Tyne, UK., Stremenova Spegarova J; Clinical and Translational Research Institute, Immunity and Inflammation Theme, Newcastle University, Newcastle upon Tyne, UK., Hatton CF; Clinical and Translational Research Institute, Immunity and Inflammation Theme, Newcastle University, Newcastle upon Tyne, UK., Stæger FF; Section for Computational and RNA Biology, Department of Biology, University of Copenhagen, Copenhagen, Denmark., Andersen MK; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Whittaker J; Clinical and Translational Research Institute, Immunity and Inflammation Theme, Newcastle University, Newcastle upon Tyne, UK., Paludan SR; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Jørgensen SE; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark., Thomsen MK; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Mikkelsen JG; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Heilmann C; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Medical Department, Pediatric Section, Dronning Ingrid Hospital, Nuuk, Greenland., Buhas D; Division of Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Øbro NF; Department of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark., Bay JT; Department of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark., Marquart HV; Department of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark., de la Morena MT; Seattle Children's Hospital, Seattle, WA.; Department of Pediatrics, University of Washington, Seattle, WA., Klejka JA; Yukon-Kuskokwim Health Corporation, Bethel, AK., Hirschfeld M; Alaska Native Medical Center, Anchorage, AK., Borgwardt L; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Forss I; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Masmas T; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Poulsen A; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Noya F; Division of Allergy & Clinical Immunology, Montreal Children's Hospital, Montreal General Hospital, McGill University, Montreal, Quebec, Canada., Rouleau G; The Neuro, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada., Hansen T; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Zhou S; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Albrechtsen A; Section for Computational and RNA Biology, Department of Biology, University of Copenhagen, Copenhagen, Denmark., Alizadehfar R; Division of Allergy & Clinical Immunology, Montreal Children's Hospital, Montreal General Hospital, McGill University, Montreal, Quebec, Canada., Allenspach EJ; Department of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark.; Seattle Children's Hospital, Seattle, WA.; Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA.; Brotman Baty Institute for Precision Medicine, Seattle, WA., Hambleton S; Clinical and Translational Research Institute, Immunity and Inflammation Theme, Newcastle University, Newcastle upon Tyne, UK.; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Mogensen TH; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark. |
| المصدر: | The Journal of experimental medicine [J Exp Med] 2022 Jun 06; Vol. 219 (6). Date of Electronic Publication: 2022 Apr 20. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York, NY : Rockefeller University Press |
| مواضيع طبية MeSH: | COVID-19* , Interferon Type I*/genetics , Interferon Type I*/metabolism, Antiviral Agents/metabolism ; Child ; Humans ; Inheritance Patterns ; Receptor, Interferon alpha-beta |
| مستخلص: | Type I interferons (IFN-I) play a critical role in human antiviral immunity, as demonstrated by the exceptionally rare deleterious variants of IFNAR1 or IFNAR2. 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>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-a 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. (© 2022 Duncan et al.) |
| التعليقات: | Comment in: J Exp Med. 2022 Jun 6;219(6):e20220491. doi: 10.1084/jem.20220491. (PMID: 35486090) |
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| معلومات مُعتمدة: | 207556/Z/17/Z United Kingdom WT_ Wellcome Trust; MR/NO13840/1 United Kingdom MRC_ Medical Research Council; 211153/Z/18/Z United Kingdom WT_ Wellcome Trust; United Kingdom WT_ Wellcome Trust |
| المشرفين على المادة: | 0 (Antiviral Agents) 0 (IFNAR2 protein, human) 0 (Interferon Type I) 156986-95-7 (Receptor, Interferon alpha-beta) |
| تواريخ الأحداث: | Date Created: 20220420 Date Completed: 20220422 Latest Revision: 20240826 |
| رمز التحديث: | 20240826 |
| مُعرف محوري في PubMed: | PMC9026249 |
| DOI: | 10.1084/jem.20212427 |
| PMID: | 35442417 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1540-9538 |
|---|---|
| DOI: | 10.1084/jem.20212427 |