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

Author:

Boisson-Dupuis Stéphanie123ORCID,Ramirez-Alejo Noe1ORCID,Li Zhi45ORCID,Patin Etienne678ORCID,Rao Geetha9,Kerner Gaspard23ORCID,Lim Che Kang1011,Krementsov Dimitry N.12ORCID,Hernandez Nicholas1,Ma Cindy S.913ORCID,Zhang Qian114ORCID,Markle Janet1ORCID,Martinez-Barricarte Ruben1,Payne Kathryn9ORCID,Fisch Robert1,Deswarte Caroline23,Halpern Joshua1ORCID,Bouaziz Matthieu23,Mulwa Jeanette1,Sivanesan Durga1516,Lazarov Tomi17ORCID,Naves Rodrigo18ORCID,Garcia Patricia19,Itan Yuval12021,Boisson Bertrand123ORCID,Checchi Alix23,Jabot-Hanin Fabienne23,Cobat Aurélie23,Guennoun Andrea14ORCID,Jackson Carolyn C.122ORCID,Pekcan Sevgi23,Caliskaner Zafer24ORCID,Inostroza Jaime25ORCID,Costa-Carvalho Beatriz Tavares26ORCID,de Albuquerque Jose Antonio Tavares27,Garcia-Ortiz Humberto28,Orozco Lorena28,Ozcelik Tayfun29,Abid Ahmed30ORCID,Rhorfi Ismail Abderahmani3031ORCID,Souhi Hicham30ORCID,Amrani Hicham Naji30ORCID,Zegmout Adil30ORCID,Geissmann Frédéric17ORCID,Michnick Stephen W.15,Muller-Fleckenstein Ingrid31,Fleckenstein Bernhard31,Puel Anne123ORCID,Ciancanelli Michael J.1ORCID,Marr Nico14ORCID,Abolhassani Hassan1032ORCID,Balcells María Elvira33ORCID,Condino-Neto Antonio27,Strickler Alexis34ORCID,Abarca Katia35ORCID,Teuscher Cory36,Ochs Hans D.37ORCID,Reisli Ismail38,Sayar Esra H.38,El-Baghdadi Jamila39ORCID,Bustamante Jacinta12340,Hammarström Lennart101141,Tangye Stuart G.913ORCID,Pellegrini Sandra45ORCID,Quintana-Murci Lluis678ORCID,Abel Laurent123ORCID,Casanova Jean-Laurent1234243ORCID

Affiliation:

1. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.

2. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.

3. Paris Descartes University, Imagine Institute, Paris, France.

4. Cytokine Signaling Unit, Pasteur Institute, Paris, France.

5. INSERM U1221, Paris, France.

6. Human Evolutionary Genetics Unit, Pasteur Institute, Paris, France.

7. CNRS UMR2000, Paris, France.

8. Center of Bioinformatics, Biostatistics and Integrative Biology, Pasteur Institute, Paris, France.

9. Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.

10. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.

11. Department of Clinical Translational Research, Singapore General Hospital, Singapore, Singapore.

12. Department of Biomedical and Health Sciences, University of Vermont, Burlington, VT, USA.

13. St. Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.

14. Sidra Medicine, Doha, Qatar.

15. Department of Biochemistry, University of Montreal, Montreal, Quebec, Canada.

16. Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, Ontario, Canada.

17. Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

18. Institute of Biochemical Sciences, Faculty of Medicine, University of Chile, Santiago, Chile.

19. Laboratory of Microbiology, Clinical Laboratory Department School of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.

20. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

21. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

22. Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

23. Department of Pediatric Pulmonology, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.

24. Meram Faculty of Medicine, Department of Internal Medicine, Division of Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey.

25. Jeffrey Modell Center for Diagnosis and Research in Primary Immunodeficiencies, Faculty of Medicine University of La Frontera, Temuco, Chile.

26. Department of Pediatrics, Federal University of São Paulo Medical School, São Paulo, Brazil.

27. Department of Immunology, Institute of Biomedical Sciences, and Institute of Tropical Medicine, University of São Paulo, São Paulo, Brazil.

28. National Institute of Genomic Medicine, Mexico City, Mexico.

29. Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.

30. Department of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.

31. Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, Erlangen, Germany.

32. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

33. Department of Infectious Diseases, Medical School, Pontifical Catholic University of Chile, Santiago, Chile.

34. Department of Pediatrics, San Sebastián University, Santiago, Chile.

35. Department of Infectious Diseases and Pediatric Immunology, School of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.

36. Department of Medicine, Immunobiology Program, University of Vermont, Burlington, VT, USA.

37. Seattle Children's Research Institute and Department of Pediatrics, University of Washington, Seattle, WA, USA.

38. Department of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.

39. Genetics Unit, Military Hospital Mohamed V, Hay Riad, Rabat, Morocco.

40. Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.

41. Beijing Genomics Institute BGI-Shenzhen, Shenzhen, China.

42. Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.

43. Howard Hughes Medical Institute, New York, NY, USA.

Abstract

Homozygosity for the P1104A missense variant of the TYK2 Janus kinase is common monogenic etiology of primary tuberculosis.

Funder

National Institutes of Health

Agence Nationale de la Recherche

European Research Council

Canadian Institutes of Health Research

National Health and Medical Research Council

Stony Wold-Herbert Fund

Consejo Nacional de Ciencia y Tecnología

Damon Runyon Cancer Research Foundation

GENMSMD

Support of Clinical Research

NSW Department of Health

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine,Immunology

Cited by 147 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3