Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis.

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Title: Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis.
Authors: Olguín Calderón D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France., Kilpatrick LE; Division of Biomolecular Science and Medicinal Chemistry, School of Pharmacy, University of Nottingham, Nottingham, UK.; Centre of Membrane Proteins and Receptors, University of Birmingham and University of Nottingham, The Midlands, Nottingham, UK., Conil C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France., Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France., Ogishi M; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Vellutini J; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Han JE; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Keating N; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France., Li H; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France., Rao G; Garvan Institute of Medical Research , Darlinghurst, Australia.; Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales Sydney, Kensington, Australia., Bohlen J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Gene Center and Department of Biochemistry, Ludwig-Maximilians-Universität, Munich, Germany.; Department of Pediatrics, Dr. von Hauner Childrens Hospital, LMU Klinikum, Munich, Germany.; German Center for Child and Adolescent Health (DZKJ) , Munich, Germany., Lay CS; Centre of Membrane Proteins and Receptors, University of Birmingham and University of Nottingham, The Midlands, Nottingham, UK.; Division of Physiology, Pharmacology and Neuroscience, School of Life Sciences, University of Nottingham, Nottingham, UK., Platt S; Centre of Membrane Proteins and Receptors, University of Birmingham and University of Nottingham, The Midlands, Nottingham, UK.; Division of Physiology, Pharmacology and Neuroscience, School of Life Sciences, University of Nottingham, Nottingham, UK., Kerner G; Human Evolutionary Genetics Unit, Institut Pasteur, Paris Cité University, CNRS UMR2000, Paris, France., Feredj E; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Peel JN; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Momenilandi M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France., Lainé C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France., Soudée C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France., Leloup C; Immunoregulation Unit, Department of Immunology, Institut Pasteur, Paris Cité University, Paris, France., Debuisson C; General Pediatrics Department, Hôpital des Enfants, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Lanternier F; Service de Maladies Infectieuses et Tropicales, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.; Translational Mycology Research Group, Mycology Department, National Reference Center for Invasive Mycoses and Antifungals, Institut Pasteur, Paris Cité University, Paris, France., Bitoun S; Department of Rheumatology, AP-HP, Hôpital Bicêtre, Université Paris-Saclay, INSERM, CEA, UMR 1184, FHU CARE, Le Kremlin Bicêtre, France., Pavy S; Department of Rheumatology, AP-HP, Hôpital Bicêtre, Université Paris-Saclay, INSERM, CEA, UMR 1184, FHU CARE, Le Kremlin Bicêtre, France., Mariette X; Department of Rheumatology, AP-HP, Hôpital Bicêtre, Université Paris-Saclay, INSERM, CEA, UMR 1184, FHU CARE, Le Kremlin Bicêtre, France., Rafik A; Genetics Unit, Mohamed V Military Hospital, Hay Riad, Morocco.; Department of Pulmonology, Military Hospital Mohammed V, Medical and Pharmacy School of Rabat, Mohammed V University, Rabat, Morocco., Skhoun H; Genetics Unit, Mohamed V Military Hospital, Hay Riad, Morocco., El Ouazzani H; Department of Pulmonology, Military Hospital Mohammed V, Medical and Pharmacy School of Rabat, Mohammed V University, Rabat, Morocco., Abderahmani-Ghorfi I; Department of Pulmonology, Military Hospital Mohammed V, Medical and Pharmacy School of Rabat, Mohammed V University, Rabat, Morocco., El-Baghdadi J; Genetics Unit, Mohamed V Military Hospital, Hay Riad, Morocco., Baena A; Facultad de Medicina, Grupo de Inmunología Celular e Inmunogenética (GICIG), Universidad de Antioquia (UdeA), Medellín, Colombia.; Departamento de Microbiología y Parasitología, Facultad de Medicina, UdeA, Medellín, Colombia., Tejada-Giraldo M; Facultad de Medicina, Grupo de Inmunología Celular e Inmunogenética (GICIG), Universidad de Antioquia (UdeA), Medellín, Colombia.; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, UdeA, Medellín, Colombia., Barrera LF; Facultad de Medicina, Grupo de Inmunología Celular e Inmunogenética (GICIG), Universidad de Antioquia (UdeA), Medellín, Colombia.; Instituto de Investigaciones Médicas, UdeA , Medellín, Colombia., Arias AA; Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, UdeA, Medellín, Colombia.; School of Microbiology, UdeA , Medellín, Colombia., Fabio G; Department of Internal Medicine, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Carrabba M; Department of Internal Medicine, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Emiroglu M; Division of Pediatric Infectious Diseases, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Turkey., Bezrodnik L; Grupo de Inmunología-Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas (IMIPP-CONICET), Hospital de Niños 'Dr. Ricardo Gutierrez' , Buenos Aires, Argentina.; Center for Clinical Immunology , Buenos Aires, Argentina., El Zein L; Biology Department, Lebanese University, Beirut, Lebanon., Hammoud H; Saint George Hospital , Beirut, Lebanon., Gregersen PK; Robert S. Boas Center for Genomics and Human Genetics, Institute of Molecular Medicine, Feinstein Institutes for Medical Research , Manhasset, NY, USA., Terrier B; Department of Internal Medicine, Cochin Hospital, University of Paris, AP-HP, Paris, France., Leon Lopez R; Unidad de Gestión Clínica de Cuidados Intensivos, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Hospital Universitario Reina Sofía, Universidad de Córdoba (UCO) , Córdoba, Spain., Touzet M; Department of Internal Medicine, Hospital Centre Avignon, Avignon, France., Pestre V; Department of Pediatric Hematology and Oncology, Centre Hospitalo-Universitaire de Toulouse, Toulouse, France., Pasquet M; Department of Pediatric Hematology and Oncology, Centre Hospitalo-Universitaire de Toulouse, Toulouse, France., Rogge L; Immunoregulation Unit, Department of Immunology, Institut Pasteur, Paris Cité University, Paris, France., Fayon M; CHU Bordeaux, Département de Pédiatrie, CIC-P INSERM 1401, Bordeaux, France.; Centre de Recherche Cardio-thoracique de Bordeaux, Université de Bordeaux, INSERM U1045 , Bordeaux, France., Galode F; Pediatric Pulmonology, Pellegrin Hospital, Bordeaux University Hospital, Bordeaux, France.; Centre Constitutif des Maladies Respiratoires Rares de L'enfant (RESPIRARE) , Bordeaux, France., Jeziorski E; Service Urgences Post-urgences Pédiatriques, PCCEI, CeRéMAIA, Univ Montpellier, CHU Montpellier , Montpellier, France., Duffy D; Translational Immunology Unit, Institut Pasteur, Paris Cité University, Paris, France.; Single Cell Biomarkers UTechS, Institut Pasteur, Paris Cité University , Paris, France., Quintana-Murci L; Human Evolutionary Genetics Unit, Institut Pasteur, Paris Cité University, CNRS UMR2000, Paris, France., Patin E; Human Evolutionary Genetics Unit, Institut Pasteur, Paris Cité University, CNRS UMR2000, Paris, France., Cunningham-Rundles C; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Meyts I; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.; Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium., Zhang SY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Zhang Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP , Paris, France., Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Shahrooei M; Dr. Shahrooei Lab , Tehran, Iran., Mahdaviani SA; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences , Tehran, Iran., Rezaei N; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences , Tehran, Iran.; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN) , Tehran, Iran., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran., Chavoshzadeh Z; Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences , Tehran, Iran., Yazdanpanah N; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN) , Tehran, Iran.; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences , Tehran, Iran., Aladjidi N; Pediatric Hemato-Immunology, Pellegrin Hospital, Bordeaux University Hospital, CIC1401, INSERM CICP , Bordeaux, France.; Centre de Compétence des Déficits Immunitaires Héréditaires (CEREDIH) , Bordeaux, France., Noguera-Julian A; Pediatric Infectious Diseases Department, Infectious Diseases and Systemic Inflammatory Response in Pediatrics, Institut de Recerca Sant Joan de Déu (IRSJD), Hospital Sant Joan de Déu, Barcelona, Spain.; Centre for Biomedical Network Research on Epidemiology and Public Health (CIBERESP) , Madrid, Spain.; Departament de Cirurgia i Especialitats Medicoquirúrgiques, Facultat de Medicina I Ciències de La Salut, Universitat de Barcelona, Barcelona, Spain., Esteve-Solé A; Study Group for Immune Dysfunction Diseases in Children (GEMDIP), Institut de Recerca Sant Joan de Déu (IRSJD) , Barcelona, Spain.; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology, Department Hospital Sant Joan de Déu, Barcelona, Spain., Alsina L; Departament de Cirurgia i Especialitats Medicoquirúrgiques, Facultat de Medicina I Ciències de La Salut, Universitat de Barcelona, Barcelona, Spain.; Study Group for Immune Dysfunction Diseases in Children (GEMDIP), Institut de Recerca Sant Joan de Déu (IRSJD) , Barcelona, Spain.; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology, Department Hospital Sant Joan de Déu, Barcelona, Spain., Mansouri D; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences , Tehran, Iran.; Department of Clinical Immunology and Infectious Diseases, NRITLD, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; The Clinical Tuberculosis and Epidemiology Research Center, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences , Tehran, Iran., Keles S; Division of Pediatric Allergy and Immunology, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey., Ortakoylu MG; Department of Pulmonary Medicine, Yedikule Chest Diseases and Thoracic Surgery Training and Research Hospital, University of Health Sciences Turkey, Istanbul, Turkey., Aygun D; Department of Paediatric Infectious Diseases, Cerrahpasa Faculty of Medicine, Istanbul Cerrahpasa-University, Istanbul, Turkey., Yucel E; Department of Pediatric Allergy and Immunology, Cerrahpaşa Faculty of Medicine, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Kiykim A; Department of Pediatric Allergy and Immunology, Cerrahpaşa Faculty of Medicine, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Camcioglu Y; Division of Infectious Diseases and Clinical Immunology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Ma CS; Garvan Institute of Medical Research , Darlinghurst, Australia.; Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales Sydney, Kensington, Australia., Tangye SG; Garvan Institute of Medical Research , Darlinghurst, Australia.; Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales Sydney, Kensington, Australia., Zhang P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Craggs PD; Chemical Biology, Medicine Design, GlaxoSmithKline , Stevenage, UK.; Crick-GSK Biomedical Linklabs, Medicine Design, GlaxoSmithKline, Stevenage, UK., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute , New York, NY, USA., Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP , Paris, France., Hill SJ; Centre of Membrane Proteins and Receptors, University of Birmingham and University of Nottingham, The Midlands, Nottingham, UK.; Division of Physiology, Pharmacology and Neuroscience, School of Life Sciences, University of Nottingham, Nottingham, UK., Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University , Paris, France.; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Source: The Journal of experimental medicine [J Exp Med] 2026 Aug 03; Vol. 223 (8). Date of Electronic Publication: 2026 Jul 09.
Publication Type: Journal Article
Journal Info: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1540-9538
DOI:10.1084/jem.20252236