ArticleScience immunology2018
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.
Open access · bronzeAbstract 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 122 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
122citing papers in PubMed, 3 pooled it
8.7field-weighted citation impact, top 1% of its field
What it found
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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.
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.
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Who cites it
122 citing papers in PubMed, 3 syntheses or guidelines pooled it, 194 citations in OpenAlex.
- Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.The Journal of allergy and clinical immunology · 2024Pooled it
- Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.The Journal of allergy and clinical immunology · 2024Pooled it
- An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.Frontiers in immunology · 2022Pooled it
- Family-based genome-wide association study of leprosy in Vietnam.PLoS pathogens · 2020Trial
- Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis.The Journal of experimental medicine · 2026Article
- Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.medRxiv : the preprint server for health sciences · 2026Article
- Adult Onset of MSMD Caused by IL-12Rβ1 Variants: Report of a Young Woman with NTM Infection Lacking Bacille Calmette-Guérin (BCG)-induced Diseases.Journal of clinical immunology · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- T cell-macrophage interactions in tuberculosis: What we've got here is failure to communicate.Journal of internal medicine · 2026Review
- γδ T cells: bridging innate and adaptive immunity in development, tissue residency, and disease.Frontiers in immunology · 2026Review
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
- Article
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- Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in inborn errors of immunity (IEI).Journal of human immunity · 2025Review
- Mucosal-Associated Invariant T Cells: Origins, Biological Functions, Diseases, and Therapeutic Targets.MedComm · 2025Review
- Pathological IgE Production in Inborn Errors of Immunity and Beyond.Immunological reviews · 2025Review
- Central Nervous System Infections Caused by Bacillus Calmette-Guerin: Case Report and Narrative Literature Review.Microorganisms · 2025Article
- Decoding Immunobiology Through Genetic Errors of Immunity.Annual review of immunology · 2025Review
- In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.Clinical and experimental immunology · 2025Article
- Control of MAIT cell functions by cytokines in health and disease.Frontiers in immunology · 2025Review
62 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
53 authors at 18 institutions in 11 countries.
Rubén Martínez-BarricarteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Janet G MarkleSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. jmarkle1@jhu.edu jean-laurent.casanova@rockefeller.edu.ORCID 0000-0003-2189-4368
Cindy S MaImmunology Division, Garvan Institute of Medical Research and St Vincent's Clinical School, Faculty of Medicine, University of NSW, Sydney, New South Wales, Australia.ORCID 0000-0001-5387-8413
Elissa K DeenickImmunology Division, Garvan Institute of Medical Research and St Vincent's Clinical School, Faculty of Medicine, University of NSW, Sydney, New South Wales, Australia.ORCID 0000-0002-9271-0004
Noé Ramírez-AlejoSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0001-7079-1811
Federico MeleCenter of Medical Immunology, Institute for Research in Biomedicine, Faculty of Biomedical Sciences, University of italian Switzerland (USI), Bellinzona, Switzerland.ORCID 0000-0003-0455-4687
Daniela LatorreCenter of Medical Immunology, Institute for Research in Biomedicine, Faculty of Biomedical Sciences, University of italian Switzerland (USI), Bellinzona, Switzerland.
Seyed Alireza MahdavianiPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID 0000-0001-6224-4797
Caner AytekinDepartment of Pediatric Immunology, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.ORCID 0000-0002-2921-5270
Davood MansouriPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Vanessa L BryantImmunology Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.ORCID 0000-0002-4697-7410
Fabienne Jabot-HaninLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-9294-7135
Caroline DeswarteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Alejandro Nieto-PatlánLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-8668-6853
Laura SuraceInnate Immunity Unit, Pasteur Institute, INSERM U1223, Paris, France.ORCID 0000-0001-8152-0611
Gaspard KernerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-0146-9428
Yuval ItanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Sandra JovicCenter of Medical Immunology, Institute for Research in Biomedicine, Faculty of Biomedical Sciences, University of italian Switzerland (USI), Bellinzona, Switzerland.ORCID 0000-0001-6871-8690
Danielle T AveryImmunology Division, Garvan Institute of Medical Research and St Vincent's Clinical School, Faculty of Medicine, University of NSW, Sydney, New South Wales, Australia.
Natalie WongImmunology Division, Garvan Institute of Medical Research and St Vincent's Clinical School, Faculty of Medicine, University of NSW, Sydney, New South Wales, Australia.
Geetha RaoImmunology Division, Garvan Institute of Medical Research and St Vincent's Clinical School, Faculty of Medicine, University of NSW, Sydney, New South Wales, Australia.
Etienne PatinHuman Evolutionary Genetics Unit, Department of Genomes and Genetics, Pasteur Institute, Paris, France.ORCID 0000-0002-9911-4459
Satoshi OkadaDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.ORCID 0000-0002-4622-5657
Benedetta BigioSt. 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
Franck RapaportSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0001-6553-2110
Yoann SeeleuthnerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Monika SchmidtInstitute for Clinical and Molecular Virology, University Erlangen-Nuremberg,Erlangen, Germany.
Aydan IkinciogullariDepartment of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.
Figen DoguDepartment of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey.
Gonul TanirDepartment of Pediatric Infectious Diseases, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
Payam TabarsiPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mohammed Reza BloursazPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Julia K JosephSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Avneet HeerSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Xiao-Fei KongSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0001-9983-2373
Mélanie MigaudLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-3062-1214
Tomi LazarovImmunology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0002-6312-0080
Frédéric GeissmannImmunology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0001-5029-2468
Bernhard FleckensteinInstitute for Clinical and Molecular Virology, University Erlangen-Nuremberg,Erlangen, Germany.
Cecilia Lindestam ArlehamnDepartment of Vaccine Discovery, La Jolla Institute for Allergy and Immunology, La Jolla, CA, USA.ORCID 0000-0001-7302-8002
Alessandro SetteDepartment of Vaccine Discovery, La Jolla Institute for Allergy and Immunology, La Jolla, CA, USA.ORCID 0000-0001-7013-2250
Anne PuelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0003-2603-0323
Jean-François EmileEA4340 and Pathology Department, Ambroise Paré Hospital AP-HP, Versailles Saint-Quentin-en-Yvelines University, Paris-Saclay University, Boulogne, France.ORCID 0000-0002-6073-4466
Esther van de VosseDepartment of Infectious Diseases, Leiden University Medical Center, Leiden, Netherlands.ORCID 0000-0001-5199-3426
Lluis Quintana-MurciHuman Evolutionary Genetics Unit, Department of Genomes and Genetics, Pasteur Institute, Paris, France.ORCID 0000-0003-2429-6320
James P Di SantoInnate Immunity Unit, Pasteur Institute, INSERM U1223, Paris, France.ORCID 0000-0002-7146-1862
Laurent AbelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0001-7016-6493
Stéphanie Boisson-DupuisSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-7115-116X
Jacinta BustamanteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Stuart G TangyeImmunology Division, Garvan Institute of Medical Research and St Vincent's Clinical School, Faculty of Medicine, University of NSW, Sydney, New South Wales, Australia.ORCID 0000-0002-5360-5180
Federica SallustoCenter of Medical Immunology, Institute for Research in Biomedicine, Faculty of Biomedical Sciences, University of italian Switzerland (USI), Bellinzona, Switzerland.ORCID 0000-0003-3750-2752
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA. jmarkle1@jhu.edu jean-laurent.casanova@rockefeller.edu.ORCID 0000-0002-7782-4169
Inserm · FRRockefeller University · USGarvan Institute of Medical Research · AUMasih Daneshvari Hospital · IRUniversità della Svizzera italiana · CHAnkara University · TRFriedrich-Alexander-Universität Erlangen-Nürnberg · DEInstitut Pasteur · FRLa Jolla Institute for Immunology · USMemorial Sloan Kettering Cancer Center · USMinistry of Health · TRChild Health and Development Institute · USETH Zurich · CHHiroshima University · JPHoward Hughes Medical Institute · USLeiden University Medical Center · NLThe Royal Melbourne Hospital · AUUniversité de Versailles Saint-Quentin-en-Yvelines · FR
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MDeveloping, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MSingle-cell atlas of lung tissue-resident memory T cells reactive to upper and lower respiratory tract pathogensU19AI118626 · NIAID · LA JOLLA INSTITUTE FOR IMMUNOLOGY · PI Alessandro Sette · 2015 to 2026
$36.7MTransforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8MMacrophage development and specification in mice.R01AI130345 · NIAID · SLOAN-KETTERING INST CAN RESEARCH · PI Frederic Geissmann · 2017 to 2026
$5.7MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6MA genetic dissection of Mendelian susceptibility to mycobacterial diseases (MSMD)R01AI089970 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2010 to 2014
$2.5MHuman genetic determinants of mycobacterial immunityK99AI127932 · NIAID · ROCKEFELLER UNIVERSITY · PI MARKLE, JANET G · 2017 to 2017
$121kEuropean Research Council 323183Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR000043NCATS NIH HHS UL1 TR001866NCI NIH HHS P30 CA008748NIAID NIH HHS HHSN272200900044CNIAID NIH HHS K99 AI127932NIAID NIH HHS R01 AI089970NIAID NIH HHS R01 AI130345NIAID NIH HHS R37 AI095983NIAID NIH HHS U19 AI118626
Abstract
Hundreds of patients with autosomal recessive, complete IL-12p40 or IL-12Rβ1 deficiency have been diagnosed over the last 20 years. They typically suffer from invasive mycobacteriosis and, occasionally, from mucocutaneous candidiasis. Susceptibility to these infections is thought to be due to impairments of IL-12-dependent IFN-γ immunity and IL-23-dependent IL-17A/IL-17F immunity, respectively. We report here patients with autosomal recessive, complete IL-12Rβ2 or IL-23R deficiency, lacking responses to IL-12 or IL-23 only, all of whom, unexpectedly, display mycobacteriosis without candidiasis. We show that αβ T, γδ T, B, NK, ILC1, and ILC2 cells from healthy donors preferentially produce IFN-γ in response to IL-12, whereas NKT cells and MAIT cells preferentially produce IFN-γ in response to IL-23. We also show that the development of IFN-γ-producing CD4
Indexed as
HumansImmunity, InnateInterferon-gammaInterleukin-12Interleukin-23MycobacteriumMycobacterium Infections, NontuberculousPedigreeInterferon-gammaInterleukin-12Interleukin-23
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