ArticleScience immunology2023
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
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Article in Science immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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44citing papers in PubMed, 1 pooled it
10.7field-weighted citation impact, top 1% of its field
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 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
- IL-17A-producing γδ T cells control pulmonary Mycobacterium abscessus infection in mice.Nature microbiology · 2026Article
- 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
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- 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
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
- Translational potential of γδ T cells in hematologic diseases: from immunobiology to therapeutic innovation.Frontiers in immunology · 2026Review
- T cell-macrophage interactions in tuberculosis: What we've got here is failure to communicate.Journal of internal medicine · 2026Review
- Age-Related Patterns of Type II Interferon Immunity: Implications for Intramacrophagic Infections and MSMD Diagnosis During Childhood.Journal of clinical immunology · 2025Article
- Article
- Furamidine enhances IL-23-mediated autophagic response through IL-23R-TYK2-STAT3-dependent regulation of intracellular Ca²⁺ level to facilitate mycobacterial clearance in human macrophages.Medical microbiology and immunology · 2025Article
- A Novel Compound Heterozygous Mutation in the IL12RB1 Gene Causes Susceptibility To Mycobacterium Tilburgii Infection.Journal of clinical immunology · 2025Article
- Homozygosity for the Common IL23R R381Q Variant Associates with Increased Susceptibility to Chronic Mucocutaneous Candidiasis.European journal of immunology · 2025Article
- The Role and Potential Application of IL-12 in the Immune Regulation of Tuberculosis.International journal of molecular sciences · 2025Review
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Article
- A novel loss-of-function variant inFrontiers in cellular and infection microbiology · 2025Article
- The importance of inflammatory biomarkers in detecting and managing latent tuberculosis infection.Frontiers in immunology · 2025Review
- IL-7-dependent and -independent lineages of IL-7R-dependent human T cells.The Journal of clinical investigation · 2024Article
Corrections and comments
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Authors and funding
58 authors at 17 institutions in 10 countries.
Quentin PhilippotLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-3429-9605
Masato OgishiSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0003-2421-7389
Jonathan BohlenLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-0458-9484
Julia PuchanInstitute of Microbiology, ETH Zürich, Zürich, Switzerland.ORCID 0000-0003-0284-3629
Andrés Augusto AriasSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-9478-8403
Tina NguyenGarvan Institute of Medical Research, Darlinghurst, NSW, Australia.ORCID 0000-0003-0709-3636
Marta Martin-FernandezCenter for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0003-4671-6349
Clement ConilLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.
Darawan RinchaiSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0001-8851-7730
Mana MomenilandiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-5340-2762
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
Mohammad KeramatipourDepartment of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.ORCID 0000-0003-4494-6220
Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-2822-161X
Rui YangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0003-4427-2158
Taushif KhanDepartment of Human Immunology, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-7917-8965
Anna-Lena NeehusLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-8573-6820
Marie MaternaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-2145-5285
Ji Eun HanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0003-1112-9320
Jessica PeelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Federico MeleInstitute for Research in Biomedicine, Università della Svizzera italiana, Bellinzona, Switzerland.ORCID 0000-0003-0455-4687
Marc WeisshaarInstitute of Microbiology, ETH Zürich, Zürich, Switzerland.ORCID 0000-0002-7769-1730
Sandra JovicInstitute for Research in Biomedicine, Università della Svizzera italiana, Bellinzona, Switzerland.ORCID 0000-0001-6871-8690
Paul BastardLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-5926-8437
Romain LévyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-6393-0198
Tom Le VoyerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-0630-8626
Peng ZhangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-6129-567X
Majistor Raj Luxman Maglorius RenkilarajLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-8385-2860
Carlos A Arango-FrancoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7404-0860
Simon PelhamSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.ORCID 0000-0002-3119-662X
Yoann SeeleuthnerLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.
Mathieu PochonLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.
Manar Mahmoud Ahmad AtaDepartment of Human Immunology, Sidra Medicine, Doha, Qatar.ORCID 0000-0001-7111-5719
Fatima Al AliDepartment of Human Immunology, Sidra Medicine, Doha, Qatar.ORCID 0000-0001-6451-7357
Mélanie MigaudLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-3062-1214
Camille SoudéeLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.
Tatiana KochetkovSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Anne MolitorMolecular Immuno-Rheumatology Laboratory, INSERM UMR_S1109, GENOMAX Platform, Faculty of Medicine, OMICARE University Hospital Federation, Immunology and Hematology Research Center, Research Center in Biomedicine of Strasbourg (CRBS), Federation of Translational Medicine of Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.ORCID 0000-0003-1646-2325
Raphael CarapitoMolecular Immuno-Rheumatology Laboratory, INSERM UMR_S1109, GENOMAX Platform, Faculty of Medicine, OMICARE University Hospital Federation, Immunology and Hematology Research Center, Research Center in Biomedicine of Strasbourg (CRBS), Federation of Translational Medicine of Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.ORCID 0000-0002-7036-442X
Seiamak BahramMolecular Immuno-Rheumatology Laboratory, INSERM UMR_S1109, GENOMAX Platform, Faculty of Medicine, OMICARE University Hospital Federation, Immunology and Hematology Research Center, Research Center in Biomedicine of Strasbourg (CRBS), Federation of Translational Medicine of Strasbourg (FMTS), University of Strasbourg, Strasbourg, France.ORCID 0000-0002-6928-9952
Bertrand BoissonLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-5240-3555
Claire FieschiClinical Immunology Department, Saint Louis Hospital, Paris, France.ORCID 0000-0003-2136-6178
Davood MansouriPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Nico MarrDepartment of Human Immunology, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-1927-7072
Satoshi OkadaDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-Ku, Hiroshima-Shi, Hiroshima, Japan.ORCID 0000-0002-4622-5657
Mohammad ShahrooeiClinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Belgium.
Nima ParvanehResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Teheran, Iran.ORCID 0000-0002-3397-9716
Zahra ChavoshzadehPediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID 0000-0003-1869-8630
Aurélie CobatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-7209-6257
Dusan BogunovicPrecision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-0683-6920
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-7016-6493
Stuart G TangyeSchool of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia.ORCID 0000-0002-5360-5180
Cindy S MaSchool of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia.ORCID 0000-0001-5387-8413
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-4020-824X
Federica SallustoInstitute of Microbiology, ETH Zürich, Zürich, Switzerland.ORCID 0000-0003-3750-2752
Stéphanie Boisson-DupuisLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7115-116X
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-3439-2482
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7782-4169
Anne PuelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-2603-0323
Inserm · FRRockefeller University · USETH Zurich · CHMasih Daneshvari Hospital · IRUniversità della Svizzera italiana · CHUNSW Sydney · AUChild Health and Development Institute · USChildren's Medical Center · IRGarvan Institute of Medical Research · AUHamad bin Khalifa University · QAHiroshima University · JPHôpital Saint-Louis · FRHoward Hughes Medical Institute · USRega Institute for Medical Research · BEShahid Beheshti University of Medical Sciences · IRTehran University of Medical Sciences · IRUniversidad de Antioquia · CO
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MTransforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8MPharmacology & ImmunoPathology (PIP) CoreU19AI162568 · NIAID · WEILL MEDICAL COLL OF CORNELL UNIV · PI EHRT, SABINE, GLICKMAN, MICHAEL S · 2021 to 2025
$13.0MGenome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova · 2017 to 2026
$4.8MHuman ISG15 and USP18 Deficiencies Underlying Type I InterferonopathiesR01AI127372 · NIAID · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Dusan Bogunovic · 2017 to 2026
$4.7MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5MInborn Errors of Immunity Leading to Autoinflammatory SyndromesR01AI148963 · NIAID · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BOGUNOVIC, DUSAN · 2020 to 2024
$2.5MGenetic and immunological dissection of coinhibitory crosstalks between human T cells and cancer cellsF99CA274708 · NCI · ROCKEFELLER UNIVERSITY · PI OGISHI, MASATO · 2022 to 2023
$96kHoward Hughes Medical InstituteNCATS NIH HHS UL1 TR000043NCATS NIH HHS UL1 TR001866NCI NIH HHS F99 CA274708NIAID NIH HHS R01 AI095983NIAID NIH HHS R01 AI127372NIAID NIH HHS R01 AI127564NIAID NIH HHS R01 AI148963NIAID NIH HHS U19 AI162568
Abstract
Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less commonly, chronic mucocutaneous candidiasis (CMC) due to impaired IL-17A/F production. We report six patients from four kindreds with AR IL-23R deficiency. These patients are homozygous for one of four different loss-of-function
Indexed as
Interferon-gammaInterleukin-23MycobacteriumMycobacterium InfectionsGenetic Predisposition to DiseaseHumansInterleukin-17Interferon-gammaInterleukin-17Interleukin-23
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