{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T20:25:32Z","timestamp":1779913532670,"version":"3.53.1"},"reference-count":78,"publisher":"American Society for Clinical Investigation","issue":"19","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R01AI127564,AI001222"],"award-info":[{"award-number":["R01AI127564,AI001222"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Clinical and Translational Science Award","award":["UL1TR001866"],"award-info":[{"award-number":["UL1TR001866"]}]},{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"crossref","award":["ANR-10-IAHU-01,ANR-10-LABX-62-IBEID,ANR-18-CE93-0008"],"award-info":[{"award-number":["ANR-10-IAHU-01,ANR-10-LABX-62-IBEID,ANR-18-CE93-0008"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"crossref"}]},{"name":"French Foundation for Medical Research","award":["EQU201903007798"],"award-info":[{"award-number":["EQU201903007798"]}]},{"name":"European Union\u2019s Horizon 2020 research and innovation program","award":["824110"],"award-info":[{"award-number":["824110"]}]},{"name":"Colombian Administrative Department of Science, Technology, and Innovation","award":["111574455633"],"award-info":[{"award-number":["111574455633"]}]},{"name":"ECOS-NORD","award":["63407-2018 C19S01-63407"],"award-info":[{"award-number":["63407-2018 C19S01-63407"]}]},{"name":"Comit\u00e9 para el desarrollo de la investigaci\u00f3n CODI UdeA","award":["2017-16003"],"award-info":[{"award-number":["2017-16003"]}]},{"name":"Ministerio de Ciencia Tecnolog\u00eda e Innovaci\u00f3n MINCIENCIAS, Colombia","award":["111584467551-CT 415-2020"],"award-info":[{"award-number":["111584467551-CT 415-2020"]}]},{"name":"National Cancer Institute","award":["F99CA274708"],"award-info":[{"award-number":["F99CA274708"]}]},{"DOI":"10.13039\/100010434","name":"Caixa Foundation","doi-asserted-by":"crossref","award":["HR21-00761"],"award-info":[{"award-number":["HR21-00761"]}],"id":[{"id":"10.13039\/100010434","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,1]]},"abstract":"<jats:p>\n                    Infants with biallelic\n                    <jats:italic>IL7R<\/jats:italic>\n                    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\n                    <jats:sup>\u2013<\/jats:sup>\n                    B\n                    <jats:sup>+<\/jats:sup>\n                    NK\n                    <jats:sup>+<\/jats:sup>\n                    SCID). We report 6 adults (aged 22 to 59 years) from 4 kindreds and 3 ancestries (Colombian, Israeli Arab, Japanese) carrying homozygous\n                    <jats:italic>IL7<\/jats:italic>\n                    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\n                    <jats:sup>+<\/jats:sup>\n                    T cells, and low overall TCR repertoire diversity, collectively indicating impaired thymic output. The proportions of effector memory CD4\n                    <jats:sup>+<\/jats:sup>\n                    and CD8\n                    <jats:sup>+<\/jats:sup>\n                    T cells were high, indicating IL-7\u2013independent homeostatic T cell proliferation in the periphery. Intriguingly, the proportions of other T cell subsets, including TCR\u03b3\u03b4\n                    <jats:sup>+<\/jats:sup>\n                    T cells and some TCR\u03b1\u03b2\n                    <jats:sup>+<\/jats:sup>\n                    T cell subsets (including Th1, Tfh, and Treg) were little affected. Peripheral CD4\n                    <jats:sup>+<\/jats:sup>\n                    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\u2013binding cytokine, possibly thymic stromal lymphopoietin, governs an IL-7\u2013independent pathway of human T cell development.\n                  <\/jats:p>","DOI":"10.1172\/jci180251","type":"journal-article","created":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T14:00:47Z","timestamp":1727704847000},"source":"Crossref","is-referenced-by-count":6,"title":["IL-7\u2013dependent and \u2013independent lineages of IL-7R\u2013dependent human T cells"],"prefix":"10.1172","volume":"134","author":[{"given":"Carlos A.","family":"Arango-Franco","sequence":"first","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France."},{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, France."},{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2421-7389","authenticated-orcid":true,"given":"Masato","family":"Ogishi","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Unger","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Clinical Immunology and"},{"name":"Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University Freiburg, Freiburg, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4772-0799","authenticated-orcid":true,"given":"Ottavia M.","family":"Delmonte","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio C\u00e9sar","family":"Orrego","sequence":"additional","affiliation":[{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Yatim","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarita M.","family":"Velasquez-Lopera","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Dermatolog\u00eda, Facultad de Medicina, Universidad de Antioquia, Centro de Investigaciones Dermatol\u00f3gicas (CIDERM), Medell\u00edn, Antioquia, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s F.","family":"Zea-Vera","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA."},{"name":"Clinical Immunology Clinic, Hospital Universitario del Valle, Cali, Colombia."},{"name":"Microbiology Department, Universidad del Valle, Cali, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Bohlen","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France."},{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwa","family":"Chbihi","sequence":"additional","affiliation":[{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, France."},{"name":"Pediatric Immunology, Hematology and Rheumatology Department, H\u00f4pital Necker-Enfants Malades, Assistance Publique-H\u00f4pitaux de Paris, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Fayand","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France."},{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Pablo","family":"S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."},{"name":"Microbiology School, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1317-1875","authenticated-orcid":true,"given":"Julian","family":"Rojas","sequence":"additional","affiliation":[{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."},{"name":"Microbiology School, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoann","family":"Seeleuthner","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France."},{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7253-3135","authenticated-orcid":true,"given":"Tom","family":"Le Voyer","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France."},{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quentin","family":"Philippot","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France."},{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3311-5210","authenticated-orcid":true,"given":"Kathryn J.","family":"Payne","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Clinical Immunology and"},{"name":"Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University Freiburg, Freiburg, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Gervais","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France."},{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia V.","family":"Erazo-Borr\u00e1s","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France."},{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, France."},{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis A.","family":"Correa-Londo\u00f1o","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Dermatolog\u00eda, Facultad de Medicina, Universidad de Antioquia, Centro de Investigaciones Dermatol\u00f3gicas (CIDERM), Medell\u00edn, Antioquia, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5973-9637","authenticated-orcid":true,"given":"Axel","family":"Cederholm","sequence":"additional","affiliation":[{"name":"Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Gall\u00f3n-Duque","sequence":"additional","affiliation":[{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Goncalves","sequence":"additional","affiliation":[{"name":"Innate Immunity Unit, Institut Pasteur, Paris, France."},{"name":"INSERM U1223, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6714-1308","authenticated-orcid":true,"given":"Jean-Marc","family":"Doisne","sequence":"additional","affiliation":[{"name":"Innate Immunity Unit, Institut Pasteur, Paris, France."},{"name":"INSERM U1223, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liran","family":"Horev","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hebrew University of Jerusalem, Pediatric Dermatology Service, Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel."},{"name":"Shamir (Assaf Harofeh) Medical Center, Be\u2019er Ya\u2019akov, Israel."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Charmeteau-de Muylder","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, CNRS, INSERM, Institut Cochin, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas \u00c1.","family":"\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana M.","family":"Arboleda","sequence":"additional","affiliation":[{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lizet","family":"P\u00e9rez-Zapata","sequence":"additional","affiliation":[{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estefan\u00eda","family":"V\u00e1squez-Echeverri","sequence":"additional","affiliation":[{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcela","family":"Moncada-V\u00e9lez","sequence":"additional","affiliation":[{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."},{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan A.","family":"L\u00f3pez","sequence":"additional","affiliation":[{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."},{"name":"Microbiology School, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yolanda","family":"Caicedo","sequence":"additional","affiliation":[{"name":"Infectolog\u00eda Pedi\u00e1trica, Clinica Farallones, Cali, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boaz","family":"Palterer","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo J.","family":"Pati\u00f1o","sequence":"additional","affiliation":[{"name":"Inborn Errors of Immunity Group, (Primary Immunodeficiencies), School of Medicine, University of Antioquia UdeA, Medell\u00edn, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos J.","family":"Montoya","sequence":"additional","affiliation":[{"name":"School of Medicine, University of Antioquia UdeA, Medellin, Colombia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Chaldebas","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6129-567X","authenticated-orcid":true,"given":"Peng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France."},{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, 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Papillomavirus, F-25000 Besan\u00e7on, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5240-3555","authenticated-orcid":true,"given":"Bertrand","family":"Boisson","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France."},{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, France."},{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Generalized Verrucosis Japanese Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1927-7072","authenticated-orcid":true,"given":"Nico","family":"Marr","sequence":"additional","affiliation":[{"name":"Research Branch, Sidra Medicine, Doha, Qatar."},{"name":"College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruba","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hebrew University of Jerusalem, Pediatric Dermatology Service, Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vered","family":"Molho-Pessach","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Hebrew University of Jerusalem, Pediatric Dermatology Service, Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Boisson-Dupuis","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France."},{"name":"Paris Cit\u00e9 University, Imagine Institute, Paris, France."},{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2331-8981","authenticated-orcid":true,"given":"Dimitra","family":"Kiritsi","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University Medical Center of Freiburg, Freiburg, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o T.","family":"Barata","sequence":"additional","affiliation":[{"name":"Instituto de Medicina Molecular Jo\u00e3o Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nils","family":"Landegren","sequence":"additional","affiliation":[{"name":"Science for Life Laboratory, Department of Medical 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