Evidence map›Paper›PMID 30578352›Full record

ArticleScience immunology2018

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

Stéphanie Boisson-Dupuis, Noe Ramirez-Alejo, Zhi Li, Etienne Patin, Geetha Rao, Gaspard Kerner, Che Kang Lim, Dimitry N Krementsov, Nicholas Hernandez, Cindy S Ma and 57 more

Open access · greenAbstract read
In one paragraph

Article in Science immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 136 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
136citing papers in PubMed, 1 pooled it
8.4field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

136 citing papers in PubMed, 1 synthesis or guideline pooled it, 205 citations in OpenAlex.

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  20. Human LY9 governs CD4Science immunology · 2025
    Article

76 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

67 authors at 20 institutions in 15 countries.

Stéphanie Boisson-DupuisSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. stbo603@rockefeller.edu jean-laurent.casanova@rockefeller.edu.ORCID 0000-0002-7115-116X
Noe Ramirez-AlejoSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0001-7079-1811
Zhi LiCytokine Signaling Unit, Pasteur Institute, Paris, France.ORCID 0000-0003-4422-4914
Etienne PatinHuman Evolutionary Genetics Unit, Pasteur Institute, Paris, France.ORCID 0000-0002-9911-4459
Geetha RaoImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Gaspard KernerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID 0000-0003-0146-9428
Che Kang LimDivision of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Dimitry N KrementsovDepartment of Biomedical and Health Sciences, University of Vermont, Burlington, VT, USA.ORCID 0000-0003-2709-7466
Nicholas HernandezSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Cindy S MaImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID 0000-0001-5387-8413
Qian ZhangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-9040-3289
Janet MarkleSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0003-2189-4368
Ruben Martinez-BarricarteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Kathryn PayneImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID 0000-0003-3311-5210
Robert FischSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Caroline DeswarteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Joshua HalpernSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0003-0272-5497
Matthieu BouazizLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Jeanette MulwaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Durga SivanesanDepartment of Biochemistry, University of Montreal, Montreal, Quebec, Canada.
Tomi LazarovImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0002-6312-0080
Rodrigo NavesInstitute of Biochemical Sciences, Faculty of Medicine, University of Chile, Santiago, Chile.ORCID 0000-0002-1203-3593
Patricia GarciaLaboratory of Microbiology, Clinical Laboratory Department School of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.
Yuval ItanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Bertrand BoissonSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0001-5240-3555
Alix ChecchiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Fabienne Jabot-HaninLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Aurélie CobatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
Andrea GuennounSidra Medicine, Doha, Qatar.ORCID 0000-0002-4303-8653
Carolyn C JacksonSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-3489-495X
Sevgi PekcanDepartment of Pediatric Pulmonology, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
Zafer CaliskanerMeram Faculty of Medicine, Department of Internal Medicine, Division of Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey.ORCID 0000-0002-9084-8704
Jaime InostrozaJeffrey Modell Center for Diagnosis and Research in Primary Immunodeficiencies, Faculty of Medicine University of La Frontera, Temuco, Chile.ORCID 0000-0003-0394-1386
Beatriz Tavares Costa-CarvalhoDepartment of Pediatrics, Federal University of São Paulo Medical School, São Paulo, Brazil.ORCID 0000-0003-1086-7911
Jose Antonio Tavares de AlbuquerqueDepartment of Immunology, Institute of Biomedical Sciences, and Institute of Tropical Medicine, University of São Paulo, São Paulo, Brazil.
Humberto Garcia-OrtizNational Institute of Genomic Medicine, Mexico City, Mexico.
Lorena OrozcoNational Institute of Genomic Medicine, Mexico City, Mexico.
Tayfun OzcelikDepartment of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.
Ahmed AbidDepartment of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.ORCID 0000-0003-4885-6572
Ismail Abderahmani RhorfiDepartment of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.ORCID 0000-0001-6403-0098
Hicham SouhiDepartment of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.ORCID 0000-0003-3183-1627
Hicham Naji AmraniDepartment of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.ORCID 0000-0001-7088-6255
Adil ZegmoutDepartment of Pneumology, Military Hospital Mohammed V, Rabat, Morocco.ORCID 0000-0003-2295-9629
Frédéric GeissmannImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0001-5029-2468
Stephen W MichnickDepartment of Biochemistry, University of Montreal, Montreal, Quebec, Canada.
Ingrid Muller-FleckensteinInstitute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, Erlangen, Germany.
Bernhard FleckensteinInstitute of Clinical and Molecular Virology, University of Erlangen-Nuremberg, Erlangen, Germany.
Anne PuelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0003-2603-0323
Michael J CiancanelliSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-4623-852X
Nico MarrSidra Medicine, Doha, Qatar.ORCID 0000-0002-1927-7072
Hassan AbolhassaniDivision of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.ORCID 0000-0002-4838-0407
María Elvira BalcellsDepartment of Infectious Diseases, Medical School, Pontifical Catholic University of Chile, Santiago, Chile.ORCID 0000-0002-7223-9665
Antonio Condino-NetoDepartment of Immunology, Institute of Biomedical Sciences, and Institute of Tropical Medicine, University of São Paulo, São Paulo, Brazil.
Alexis StricklerDepartment of Pediatrics, San Sebastián University, Santiago, Chile.ORCID 0000-0001-9308-2364
Katia AbarcaDepartment of Infectious Diseases and Pediatric Immunology, School of Medicine, Pontifical Catholic University of Chile, Santiago, Chile.ORCID 0000-0003-0404-3887
Cory TeuscherDepartment of Medicine, Immunobiology Program, University of Vermont, Burlington, VT, USA.
Hans D OchsSeattle Children's Research Institute and Department of Pediatrics, University of Washington, Seattle, WA, USA.ORCID 0000-0002-7726-3218
Ismail ReisliDepartment of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
Esra H SayarDepartment of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
Jamila El-BaghdadiGenetics Unit, Military Hospital Mohamed V, Hay Riad, Rabat, Morocco.ORCID 0000-0002-1920-2310
Jacinta BustamanteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Lennart HammarströmDivision of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Stuart G TangyeImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.ORCID 0000-0002-5360-5180
Sandra PellegriniCytokine Signaling Unit, Pasteur Institute, Paris, France.ORCID 0000-0001-5837-7589
Lluis Quintana-MurciHuman Evolutionary Genetics Unit, Pasteur Institute, Paris, France.ORCID 0000-0003-2429-6320
Laurent AbelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0001-7016-6493
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. stbo603@rockefeller.edu jean-laurent.casanova@rockefeller.edu.ORCID 0000-0002-7782-4169
Inserm · FRRockefeller University · USMohammed V University · MAGarvan Institute of Medical Research · AUNecmettin Erbakan University · TRMemorial Sloan Kettering Cancer Center · USPontificia Universidad Católica de Chile · CLCentre National de la Recherche Scientifique · FRFriedrich-Alexander-Universität Erlangen-Nürnberg · DEKarolinska University Hospital · SENational Institute of Genomic Medicine · MXUniversidade de São Paulo · BRUniversity of Vermont · USBGI Group (China) · CNBilkent University · TRHôpital Militaire Moulay Ismail · MAHoward Hughes Medical Institute · USSan Sebastián University · CLSeattle Children's Hospital · USUniversidad de La Frontera · CL

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Weill Cornell/Rockefeller/Sloan-Kettering MST ProgramT32GM007739 · NIGMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI HSU, KATHARINE C · 1985 to 2023
$51.1M
Viable but Nonculturable MtbU19AI111143 · NIAID · WEILL MEDICAL COLL OF CORNELL UNIV · PI GLICKMAN, MICHAEL S, RHEE, KYU Y · 2014 to 2020
$48.6M
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Yale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8M
VERMONT IMMUNOBIOLOIGY/ INFECTIOUS DISEASES CENTERP20RR021905 · NCRR · UNIVERSITY OF VERMONT & ST AGRIC COLLEGE · PI HUSTON, CHRISTOPHER D · 2006 to 2011
$14.5M
Vermont Immunobioloigy/ Infectious Diseases CenterP20GM103496 · NIGMS · UNIVERSITY OF VERMONT & ST AGRIC COLLEGE · PI BUDD, RALPH C · 2012 to 2015
$8.7M
Genetics and Cell BiologyT32GM066699 · NIGMS · ROCKEFELLER UNIVERSITY · PI STRICKLAND, SIDNEY · 2004 to 2021
$7.6M
Vermont Immunology/Infectious Diseases CenterP30GM118228 · NIGMS · UNIVERSITY OF VERMONT & ST AGRIC COLLEGE · PI BUDD, RALPH C · 2016 to 2021
$6.8M
Macrophage development and specification in mice.R01AI130345 · NIAID · SLOAN-KETTERING INST CAN RESEARCH · PI Frederic Geissmann · 2017 to 2026
$5.7M
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
Genome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6M
Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR001866NCI NIH HHS P30 CA008748NCRR NIH HHS P20 RR021905NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006504NIAID NIH HHS K99 AI127932NIAID NIH HHS R01 AI089970NIAID NIH HHS R01 AI130345NIAID NIH HHS R37 AI095983NIAID NIH HHS U01 AI088685NIAID NIH HHS U19 AI111143NIGMS NIH HHS P20 GM103496NIGMS NIH HHS P30 GM118228NIGMS NIH HHS T32 GM007739NIGMS NIH HHS T32 GM066699NIH HHS S10 OD018521
6 · The paper itself

Abstract

Inherited IL-12Rβ1 and TYK2 deficiencies impair both IL-12- and IL-23-dependent IFN-γ immunity and are rare monogenic causes of tuberculosis, each found in less than 1/600,000 individuals. We show that homozygosity for the common

Indexed as

Cells, CulturedHomozygoteHumansInterferon-gammaInterleukin-23Mutation, MissenseTuberculosisTYK2 KinaseInterferon-gammaInterleukin-23TYK2 KinaseTYK2 protein, human

Identifiers

PMID30578352
PMCPMC6341984
OpenAlexW2906653622

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.