Research ArticleINTERFERON SIGNALING

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

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Science Immunology  13 Dec 2019:
Vol. 4, Issue 42, eaav7501
DOI: 10.1126/sciimmunol.aav7501

Article Information

vol. 4 no. 42

PubMed: 
Published By: 
History: 
  • Received October 16, 2018
  • Revision received July 29, 2019
  • Accepted November 14, 2019
  • .

Author Information

  1. Christopher J. A. Duncan1,2,*,
  2. Benjamin J. Thompson1,,
  3. Rui Chen1,,
  4. Gillian I. Rice3,
  5. Florian Gothe1,4,
  6. Dan F. Young5,
  7. Simon C. Lovell3,
  8. Victoria G. Shuttleworth6,
  9. Vicky Brocklebank6,
  10. Bronte Corner6,
  11. Andrew J. Skelton1,
  12. Vincent Bondet7,
  13. Jonathan Coxhead8,
  14. Darragh Duffy7,
  15. Cecile Fourrage9,
  16. John H. Livingston10,
  17. Julija Pavaine11,12,
  18. Edmund Cheesman13,
  19. Stephania Bitetti13,
  20. Angela Grainger1,
  21. Meghan Acres1,
  22. Barbara A. Innes1,
  23. Aneta Mikulasova1,
  24. Ruyue Sun6,
  25. Rafiqul Hussain7,
  26. Ronnie Wright3,14,
  27. Robert Wynn15,
  28. Mohammed Zarhrate16,
  29. Leo A. H. Zeef17,
  30. Katrina Wood18,
  31. Stephen M. Hughes19,
  32. Claire L. Harris6,
  33. Karin R. Engelhardt1,
  34. Yanick J. Crow20,21,22,
  35. Richard E. Randall5,
  36. David Kavanagh6,23,
  37. Sophie Hambleton1,24,*, and
  38. Tracy A. Briggs3,14,*,
  1. 1Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
  2. 2Department of Infection and Tropical Medicine, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  3. 3Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
  4. 4Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany.
  5. 5School of Biology, University of St. Andrews, St. Andrews, UK.
  6. 6Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
  7. 7Immunobiology of Dendritic Cells, Institut Pasteur, Paris, France.
  8. 8Genomics Core Facility, Biosciences Institute, Newcastle University, UK.
  9. 9Plateforme Bioinformatique, Institut Imagine, Paris, France.
  10. 10Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.
  11. 11Academic Unit of Paediatric Radiology, Royal Manchester Children’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  12. 12Division of Informatics, Imaging and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  13. 13Department of Paediatric Histopathology, Central Manchester University Foundation NHS Trust, Manchester, UK.
  14. 14Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  15. 15Department of Paediatric Blood and Marrow Transplant, Royal Manchester Children’s Hospital, Oxford Rd., Manchester, UK.
  16. 16Genomics Core Facility, Institut Imagine, Paris, France.
  17. 17Bioinformatics Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  18. 18Department of Pathology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  19. 19Immunology Department, Royal Manchester Children’s Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  20. 20MRC Institute of Genetics and Molecular Medicine, Centre for Genomic and Experimental Medicine, The University of Edinburgh, Edinburgh, UK.
  21. 21Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France.
  22. 22Paris Descartes University, Sorbonne-Paris-Cité, Paris, France.
  23. 23National Renal Complement Therapeutics Centre, Royal Victoria Infirmary, Newcastle upon Tyne Hosptials NHS Foundation Trust, Newcastle upon Tyne, UK.
  24. 24Children’s Immunology Service, Great North Children’s Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  1. *Corresponding author. Email: christopher.duncan{at}ncl.ac.uk (C.J.A.D.); tracy.briggs{at}manchester.ac.uk (T.A.B.); sophie.hambleton{at}ncl.ac.uk (S.H.)
  • These authors contributed equally to this work.

  • These authors contributed equally to this work.

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