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Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant

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Science Immunology  21 Dec 2018:
Vol. 3, Issue 30, eaau8714
DOI: 10.1126/sciimmunol.aau8714

Article Information

vol. 3 no. 30

PubMed: 
Published By: 
History: 
  • Received July 23, 2018
  • Accepted November 20, 2018
  • .

Author Information

  1. Stéphanie Boisson-Dupuis1,2,3,*,,
  2. Noe Ramirez-Alejo1,,
  3. Zhi Li4,5,,
  4. Etienne Patin6,7,8,,
  5. Geetha Rao9,,
  6. Gaspard Kerner2,3,,
  7. Che Kang Lim10,11,,
  8. Dimitry N. Krementsov12,,
  9. Nicholas Hernandez1,
  10. Cindy S. Ma9,13,
  11. Qian Zhang1,14,
  12. Janet Markle1,
  13. Ruben Martinez-Barricarte1,
  14. Kathryn Payne9,
  15. Robert Fisch1,
  16. Caroline Deswarte2,3,
  17. Joshua Halpern1,
  18. Matthieu Bouaziz2,3,
  19. Jeanette Mulwa1,
  20. Durga Sivanesan15,16,
  21. Tomi Lazarov17,
  22. Rodrigo Naves18,
  23. Patricia Garcia19,
  24. Yuval Itan1,20,21,
  25. Bertrand Boisson1,2,3,
  26. Alix Checchi2,3,
  27. Fabienne Jabot-Hanin2,3,
  28. Aurélie Cobat2,3,
  29. Andrea Guennoun14,
  30. Carolyn C. Jackson1,22,
  31. Sevgi Pekcan23,
  32. Zafer Caliskaner24,
  33. Jaime Inostroza25,
  34. Beatriz Tavares Costa-Carvalho26,
  35. Jose Antonio Tavares de Albuquerque27,
  36. Humberto Garcia-Ortiz28,
  37. Lorena Orozco28,
  38. Tayfun Ozcelik29,
  39. Ahmed Abid30,
  40. Ismail Abderahmani Rhorfi30,31,
  41. Hicham Souhi30,
  42. Hicham Naji Amrani30,
  43. Adil Zegmout30,
  44. Frédéric Geissmann17,
  45. Stephen W. Michnick15,
  46. Ingrid Muller-Fleckenstein31,
  47. Bernhard Fleckenstein31,
  48. Anne Puel1,2,3,
  49. Michael J. Ciancanelli1,
  50. Nico Marr14,
  51. Hassan Abolhassani10,32,
  52. María Elvira Balcells33,
  53. Antonio Condino-Neto27,
  54. Alexis Strickler34,
  55. Katia Abarca35,
  56. Cory Teuscher36,
  57. Hans D. Ochs37,
  58. Ismail Reisli38,
  59. Esra H. Sayar38,
  60. Jamila El-Baghdadi39,
  61. Jacinta Bustamante1,2,3,40,§,
  62. Lennart Hammarström10,11,41,§,
  63. Stuart G. Tangye9,13,§,
  64. Sandra Pellegrini4,5,§,
  65. Lluis Quintana-Murci6,7,8,§,
  66. Laurent Abel1,2,3,|| and
  67. Jean-Laurent Casanova1,2,3,42,43,*,||
  1. 1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
  2. 2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
  3. 3Paris Descartes University, Imagine Institute, Paris, France.
  4. 4Cytokine Signaling Unit, Pasteur Institute, Paris, France.
  5. 5INSERM U1221, Paris, France.
  6. 6Human Evolutionary Genetics Unit, Pasteur Institute, Paris, France.
  7. 7CNRS UMR2000, Paris, France.
  8. 8Center of Bioinformatics, Biostatistics and Integrative Biology, Pasteur Institute, Paris, France.
  9. 9Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  10. 10Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.
  11. 11Department of Clinical Translational Research, Singapore General Hospital, Singapore, Singapore.
  12. 12Department of Biomedical and Health Sciences, University of Vermont, Burlington, VT, USA.
  13. 13St. Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.
  14. 14Sidra Medicine, Doha, Qatar.
  15. 15Department of Biochemistry, University of Montreal, Montreal, Quebec, Canada.
  16. 16Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, Ontario, Canada.
  17. 17Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
  18. 18Institute of Biochemical Sciences, Faculty of Medicine, University of Chile, Santiago, Chile.
  19. 19Laboratory of Microbiology, Clinical Laboratory Department School of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.
  20. 20The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  21. 21Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  22. 22Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
  23. 23Department of Pediatric Pulmonology, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
  24. 24Meram Faculty of Medicine, Department of Internal Medicine, Division of Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey.
  25. 25Jeffrey Modell Center for Diagnosis and Research in Primary Immunodeficiencies, Faculty of Medicine University of La Frontera, Temuco, Chile.
  26. 26Department of Pediatrics, Federal University of São Paulo Medical School, São Paulo, Brazil.
  27. 27Department of Immunology, Institute of Biomedical Sciences, and Institute of Tropical Medicine, University of São Paulo, São Paulo, Brazil.
  28. 28National Institute of Genomic Medicine, Mexico City, Mexico.
  29. 29Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.
  30. 30Department of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.
  31. 31Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, Erlangen, Germany.
  32. 32Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  33. 33Department of Infectious Diseases, Medical School, Pontifical Catholic University of Chile, Santiago, Chile.
  34. 34Department of Pediatrics, San Sebastián University, Santiago, Chile.
  35. 35Department of Infectious Diseases and Pediatric Immunology, School of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.
  36. 36Department of Medicine, Immunobiology Program, University of Vermont, Burlington, VT, USA.
  37. 37Seattle Children's Research Institute and Department of Pediatrics, University of Washington, Seattle, WA, USA.
  38. 38Department of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
  39. 39Genetics Unit, Military Hospital Mohamed V, Hay Riad, Rabat, Morocco.
  40. 40Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.
  41. 41Beijing Genomics Institute BGI-Shenzhen, Shenzhen, China.
  42. 42Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
  43. 43Howard Hughes Medical Institute, New York, NY, USA.
  1. *Corresponding author. Email: stbo603{at}rockefeller.edu (S.B.-D.); jean-laurent.casanova{at}rockefeller.edu (J.-L.C.)
  • These authors contributed equally to this work.

  • These authors contributed equally to this work.

  • § These authors contributed equally to this work.

  • || These authors contributed equally to this work.

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