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Research ArticleTUBERCULOSIS
Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant
- View ORCID ProfileStéphanie Boisson-Dupuis1,2,3,*,†,
- View ORCID ProfileNoe Ramirez-Alejo1,†,
- View ORCID ProfileZhi Li4,5,‡,
- View ORCID ProfileEtienne Patin6,7,8,‡,
- Geetha Rao9,‡,
- View ORCID ProfileGaspard Kerner2,3,‡,
- Che Kang Lim10,11,‡,
- View ORCID ProfileDimitry N. Krementsov12,‡,
- Nicholas Hernandez1,
- View ORCID ProfileCindy S. Ma9,13,
- View ORCID ProfileQian Zhang1,14,
- View ORCID ProfileJanet Markle1,
- Ruben Martinez-Barricarte1,
- View ORCID ProfileKathryn Payne9,
- Robert Fisch1,
- Caroline Deswarte2,3,
- View ORCID ProfileJoshua Halpern1,
- Matthieu Bouaziz2,3,
- Jeanette Mulwa1,
- Durga Sivanesan15,16,
- View ORCID ProfileTomi Lazarov17,
- View ORCID ProfileRodrigo Naves18,
- Patricia Garcia19,
- Yuval Itan1,20,21,
- View ORCID ProfileBertrand Boisson1,2,3,
- Alix Checchi2,3,
- Fabienne Jabot-Hanin2,3,
- Aurélie Cobat2,3,
- View ORCID ProfileAndrea Guennoun14,
- View ORCID ProfileCarolyn C. Jackson1,22,
- Sevgi Pekcan23,
- View ORCID ProfileZafer Caliskaner24,
- View ORCID ProfileJaime Inostroza25,
- View ORCID ProfileBeatriz Tavares Costa-Carvalho26,
- Jose Antonio Tavares de Albuquerque27,
- Humberto Garcia-Ortiz28,
- Lorena Orozco28,
- Tayfun Ozcelik29,
- View ORCID ProfileAhmed Abid30,
- View ORCID ProfileIsmail Abderahmani Rhorfi30,31,
- View ORCID ProfileHicham Souhi30,
- View ORCID ProfileHicham Naji Amrani30,
- View ORCID ProfileAdil Zegmout30,
- View ORCID ProfileFrédéric Geissmann17,
- Stephen W. Michnick15,
- Ingrid Muller-Fleckenstein31,
- Bernhard Fleckenstein31,
- View ORCID ProfileAnne Puel1,2,3,
- View ORCID ProfileMichael J. Ciancanelli1,
- View ORCID ProfileNico Marr14,
- View ORCID ProfileHassan Abolhassani10,32,
- View ORCID ProfileMaría Elvira Balcells33,
- Antonio Condino-Neto27,
- View ORCID ProfileAlexis Strickler34,
- View ORCID ProfileKatia Abarca35,
- Cory Teuscher36,
- View ORCID ProfileHans D. Ochs37,
- Ismail Reisli38,
- Esra H. Sayar38,
- View ORCID ProfileJamila El-Baghdadi39,
- Jacinta Bustamante1,2,3,40,§,
- Lennart Hammarström10,11,41,§,
- View ORCID ProfileStuart G. Tangye9,13,§,
- View ORCID ProfileSandra Pellegrini4,5,§,
- View ORCID ProfileLluis Quintana-Murci6,7,8,§,
- View ORCID ProfileLaurent Abel1,2,3,|| and
- View ORCID ProfileJean-Laurent Casanova1,2,3,42,43,*,||
- 1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
- 2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
- 3Paris Descartes University, Imagine Institute, Paris, France.
- 4Cytokine Signaling Unit, Pasteur Institute, Paris, France.
- 5INSERM U1221, Paris, France.
- 6Human Evolutionary Genetics Unit, Pasteur Institute, Paris, France.
- 7CNRS UMR2000, Paris, France.
- 8Center of Bioinformatics, Biostatistics and Integrative Biology, Pasteur Institute, Paris, France.
- 9Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
- 10Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.
- 11Department of Clinical Translational Research, Singapore General Hospital, Singapore, Singapore.
- 12Department of Biomedical and Health Sciences, University of Vermont, Burlington, VT, USA.
- 13St. Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.
- 14Sidra Medicine, Doha, Qatar.
- 15Department of Biochemistry, University of Montreal, Montreal, Quebec, Canada.
- 16Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, Ontario, Canada.
- 17Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
- 18Institute of Biochemical Sciences, Faculty of Medicine, University of Chile, Santiago, Chile.
- 19Laboratory of Microbiology, Clinical Laboratory Department School of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.
- 20The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
- 21Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
- 22Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
- 23Department of Pediatric Pulmonology, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
- 24Meram Faculty of Medicine, Department of Internal Medicine, Division of Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey.
- 25Jeffrey Modell Center for Diagnosis and Research in Primary Immunodeficiencies, Faculty of Medicine University of La Frontera, Temuco, Chile.
- 26Department of Pediatrics, Federal University of São Paulo Medical School, São Paulo, Brazil.
- 27Department of Immunology, Institute of Biomedical Sciences, and Institute of Tropical Medicine, University of São Paulo, São Paulo, Brazil.
- 28National Institute of Genomic Medicine, Mexico City, Mexico.
- 29Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.
- 30Department of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.
- 31Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, Erlangen, Germany.
- 32Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
- 33Department of Infectious Diseases, Medical School, Pontifical Catholic University of Chile, Santiago, Chile.
- 34Department of Pediatrics, San Sebastián University, Santiago, Chile.
- 35Department of Infectious Diseases and Pediatric Immunology, School of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.
- 36Department of Medicine, Immunobiology Program, University of Vermont, Burlington, VT, USA.
- 37Seattle Children's Research Institute and Department of Pediatrics, University of Washington, Seattle, WA, USA.
- 38Department of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
- 39Genetics Unit, Military Hospital Mohamed V, Hay Riad, Rabat, Morocco.
- 40Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.
- 41Beijing Genomics Institute BGI-Shenzhen, Shenzhen, China.
- 42Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
- 43Howard Hughes Medical Institute, New York, NY, USA.
- ↵*Corresponding author. Email: stbo603{at}rockefeller.edu (S.B.-D.); jean-laurent.casanova{at}rockefeller.edu (J.-L.C.)
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Science Immunology 21 Dec 2018:
Vol. 3, Issue 30, eaau8714
DOI: 10.1126/sciimmunol.aau8714
Vol. 3, Issue 30, eaau8714
DOI: 10.1126/sciimmunol.aau8714
Stéphanie Boisson-Dupuis
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
Noe Ramirez-Alejo
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Zhi Li
4Cytokine Signaling Unit, Pasteur Institute, Paris, France.
5INSERM U1221, Paris, France.
Etienne Patin
6Human Evolutionary Genetics Unit, Pasteur Institute, Paris, France.
7CNRS UMR2000, Paris, France.
8Center of Bioinformatics, Biostatistics and Integrative Biology, Pasteur Institute, Paris, France.
Geetha Rao
9Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Gaspard Kerner
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
Che Kang Lim
10Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.
11Department of Clinical Translational Research, Singapore General Hospital, Singapore, Singapore.
Dimitry N. Krementsov
12Department of Biomedical and Health Sciences, University of Vermont, Burlington, VT, USA.
Nicholas Hernandez
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Cindy S. Ma
9Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
13St. Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.
Qian Zhang
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
14Sidra Medicine, Doha, Qatar.
Janet Markle
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Ruben Martinez-Barricarte
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Kathryn Payne
9Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Robert Fisch
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Caroline Deswarte
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
Joshua Halpern
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Matthieu Bouaziz
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
Jeanette Mulwa
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Durga Sivanesan
15Department of Biochemistry, University of Montreal, Montreal, Quebec, Canada.
16Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, Ontario, Canada.
Tomi Lazarov
17Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Rodrigo Naves
18Institute of Biochemical Sciences, Faculty of Medicine, University of Chile, Santiago, Chile.
Patricia Garcia
19Laboratory of Microbiology, Clinical Laboratory Department School of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.
Yuval Itan
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
20The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
21Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Bertrand Boisson
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
Alix Checchi
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
Fabienne Jabot-Hanin
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
Aurélie Cobat
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
Andrea Guennoun
14Sidra Medicine, Doha, Qatar.
Carolyn C. Jackson
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
22Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Sevgi Pekcan
23Department of Pediatric Pulmonology, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
Zafer Caliskaner
24Meram Faculty of Medicine, Department of Internal Medicine, Division of Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey.
Jaime Inostroza
25Jeffrey Modell Center for Diagnosis and Research in Primary Immunodeficiencies, Faculty of Medicine University of La Frontera, Temuco, Chile.
Beatriz Tavares Costa-Carvalho
26Department of Pediatrics, Federal University of São Paulo Medical School, São Paulo, Brazil.
Jose Antonio Tavares de Albuquerque
27Department of Immunology, Institute of Biomedical Sciences, and Institute of Tropical Medicine, University of São Paulo, São Paulo, Brazil.
Humberto Garcia-Ortiz
28National Institute of Genomic Medicine, Mexico City, Mexico.
Lorena Orozco
28National Institute of Genomic Medicine, Mexico City, Mexico.
Tayfun Ozcelik
29Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.
Ahmed Abid
30Department of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.
Ismail Abderahmani Rhorfi
30Department of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.
31Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, Erlangen, Germany.
Hicham Souhi
30Department of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.
Hicham Naji Amrani
30Department of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.
Adil Zegmout
30Department of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.
Frédéric Geissmann
17Immunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Stephen W. Michnick
15Department of Biochemistry, University of Montreal, Montreal, Quebec, Canada.
Ingrid Muller-Fleckenstein
31Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, Erlangen, Germany.
Bernhard Fleckenstein
31Institute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, Erlangen, Germany.
Anne Puel
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
Michael J. Ciancanelli
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Nico Marr
14Sidra Medicine, Doha, Qatar.
Hassan Abolhassani
10Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.
32Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
María Elvira Balcells
33Department of Infectious Diseases, Medical School, Pontifical Catholic University of Chile, Santiago, Chile.
Antonio Condino-Neto
27Department of Immunology, Institute of Biomedical Sciences, and Institute of Tropical Medicine, University of São Paulo, São Paulo, Brazil.
Alexis Strickler
34Department of Pediatrics, San Sebastián University, Santiago, Chile.
Katia Abarca
35Department of Infectious Diseases and Pediatric Immunology, School of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.
Cory Teuscher
36Department of Medicine, Immunobiology Program, University of Vermont, Burlington, VT, USA.
Hans D. Ochs
37Seattle Children's Research Institute and Department of Pediatrics, University of Washington, Seattle, WA, USA.
Ismail Reisli
38Department of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
Esra H. Sayar
38Department of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
Jamila El-Baghdadi
39Genetics Unit, Military Hospital Mohamed V, Hay Riad, Rabat, Morocco.
Jacinta Bustamante
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
40Center for the Study of Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.
Lennart Hammarström
10Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.
11Department of Clinical Translational Research, Singapore General Hospital, Singapore, Singapore.
41Beijing Genomics Institute BGI-Shenzhen, Shenzhen, China.
Stuart G. Tangye
9Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
13St. Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.
Sandra Pellegrini
4Cytokine Signaling Unit, Pasteur Institute, Paris, France.
5INSERM U1221, Paris, France.
Lluis Quintana-Murci
6Human Evolutionary Genetics Unit, Pasteur Institute, Paris, France.
7CNRS UMR2000, Paris, France.
8Center of Bioinformatics, Biostatistics and Integrative Biology, Pasteur Institute, Paris, France.
Laurent Abel
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
Jean-Laurent Casanova
1St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
2Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
3Paris Descartes University, Imagine Institute, Paris, France.
42Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
43Howard Hughes Medical Institute, New York, NY, USA.
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