IL-7-dependent and -independent lineages of IL-7R-dependent human T cells.

Autor: Arango-Franco CA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Unger S; Department of Rheumatology and Clinical Immunology and.; Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University Freiburg, Freiburg, Germany., Delmonte OM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA., Orrego JC; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Yatim A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Velasquez-Lopera MM; Sección de Dermatología, Facultad de Medicina, Universidad de Antioquia, Centro de Investigaciones Dermatológicas (CIDERM), Medellín, Antioquia, Colombia., Zea-Vera AF; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.; Clinical Immunology Clinic, Hospital Universitario del Valle, Cali, Colombia.; Microbiology Department, Universidad del Valle, Cali, Colombia., Bohlen J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Chbihi M; Paris Cité University, Imagine Institute, Paris, France.; Pediatric Immunology, Hematology and Rheumatology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Fayand A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Sánchez JP; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia.; Microbiology School, University of Antioquia UdeA, Medellín, Colombia., Rojas J; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia.; Microbiology School, University of Antioquia UdeA, Medellín, Colombia., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Payne KJ; Department of Rheumatology and Clinical Immunology and.; Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University Freiburg, Freiburg, Germany., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Erazo-Borrás LV; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Correa-Londoño LA; Sección de Dermatología, Facultad de Medicina, Universidad de Antioquia, Centro de Investigaciones Dermatológicas (CIDERM), Medellín, Antioquia, Colombia., Cederholm A; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden., Gallón-Duque A; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Goncalves P; Innate Immunity Unit, Institut Pasteur, Paris, France.; INSERM U1223, Paris, France., Doisne JM; Innate Immunity Unit, Institut Pasteur, Paris, France.; INSERM U1223, Paris, France., Horev L; Faculty of Medicine, Hebrew University of Jerusalem, Pediatric Dermatology Service, Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel.; Shamir (Assaf Harofeh) Medical Center, Be'er Ya'akov, Israel., Charmeteau-de Muylder B; Université Paris Cité, CNRS, INSERM, Institut Cochin, Paris, France., Álvarez JÁ; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Arboleda DM; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Pérez-Zapata L; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Vásquez-Echeverri E; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Moncada-Vélez M; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., López JA; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia.; Microbiology School, University of Antioquia UdeA, Medellín, Colombia., Caicedo Y; Infectología Pediátrica, Clinica Farallones, Cali, Colombia., Palterer B; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA., Patiño PJ; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Montoya CJ; School of Medicine, University of Antioquia UdeA, Medellin, Colombia., Chaldebas M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Zhang P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Nguyen T; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, Australia., Ma CS; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, Australia., Jeljeli M; Cochin University Hospital, Biological Immunology Unit, AP-HP, Paris, France., Alzate JF; Centro Nacional de Secuenciación Genómica CNSG, Universidad de Antioquia UdeA, Medellín, Colombia., Cabarcas F; Centro Nacional de Secuenciación Genómica CNSG, Universidad de Antioquia UdeA, Medellín, Colombia., Khan T; Research Branch, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Prétet JL; Université de Franche-Comté, CNRS, Chrono-environnement & CHU Besançon, Centre National de Référence Papillomavirus, F-25000 Besançon, France., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Marr N; Research Branch, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Ibrahim R; Faculty of Medicine, Hebrew University of Jerusalem, Pediatric Dermatology Service, Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel., Molho-Pessach V; Faculty of Medicine, Hebrew University of Jerusalem, Pediatric Dermatology Service, Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel., Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Kiritsi D; Department of Dermatology, University Medical Center of Freiburg, Freiburg, Germany., Barata JT; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal., Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden., Neven B; Paris Cité University, Imagine Institute, Paris, France.; Pediatric Immunology, Hematology and Rheumatology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Lisco A; Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA., Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France., Di Santo JP; Innate Immunity Unit, Institut Pasteur, Paris, France.; INSERM U1223, Paris, France., Tangye SG; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, Australia., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA., Cheynier R; Université Paris Cité, CNRS, INSERM, Institut Cochin, Paris, France., Natsuga K; Department of Dermatology, Faculty of Medicine and Graduate of Medicine, Hokkaido University, Sapporo, Japan., Arias AA; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.; Microbiology School, University of Antioquia UdeA, Medellín, Colombia., Franco JL; Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medellín, Colombia., Warnatz K; Department of Rheumatology and Clinical Immunology and.; Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University Freiburg, Freiburg, Germany., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute, New York, New York, USA., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
Jazyk: angličtina
Zdroj: The Journal of clinical investigation [J Clin Invest] 2024 Oct 01; Vol. 134 (19). Date of Electronic Publication: 2024 Oct 01.
DOI: 10.1172/JCI180251
Abstrakt: Infants with biallelic IL7R loss-of-function variants have severe combined immune deficiency (SCID) characterized by the absence of autologous T lymphocytes, but normal counts of circulating B and NK cells (T-B+NK+ SCID). We report 6 adults (aged 22 to 59 years) from 4 kindreds and 3 ancestries (Colombian, Israeli Arab, Japanese) carrying homozygous IL7 loss-of-function variants resulting in combined immunodeficiency (CID). Deep immunophenotyping revealed relatively normal counts and/or proportions of myeloid, B, NK, and innate lymphoid cells. By contrast, the patients had profound T cell lymphopenia, with low proportions of innate-like adaptive mucosal-associated invariant T and invariant NK T cells. They also had low blood counts of T cell receptor (TCR) excision circles, recent thymic emigrant T cells and naive CD4+ T cells, and low overall TCR repertoire diversity, collectively indicating impaired thymic output. The proportions of effector memory CD4+ and CD8+ T cells were high, indicating IL-7-independent homeostatic T cell proliferation in the periphery. Intriguingly, the proportions of other T cell subsets, including TCRγδ+ T cells and some TCRαβ+ T cell subsets (including Th1, Tfh, and Treg) were little affected. Peripheral CD4+ T cells displayed poor proliferation, but normal cytokine production upon stimulation with mitogens in vitro. Thus, inherited IL-7 deficiency impairs T cell development less severely and in a more subset-specific manner than IL-7R deficiency. These findings suggest that another IL-7R-binding cytokine, possibly thymic stromal lymphopoietin, governs an IL-7-independent pathway of human T cell development.
Databáze: MEDLINE