{"entity": "publication", "iuid": "b1bdf156c0e6405cac7ad0df592d23fa", "timestamp": "2026-08-23T09:25:46.589Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b1bdf156c0e6405cac7ad0df592d23fa.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b1bdf156c0e6405cac7ad0df592d23fa"}}, "title": "IL-7-dependent and -independent lineages of IL-7R-dependent human T cells.", "authors": [{"family": "Arango-Franco", "given": "Carlos A", "initials": "CA"}, {"family": "Ogishi", "given": "Masato", "initials": "M"}, {"family": "Unger", "given": "Susanne", "initials": "S"}, {"family": "Delmonte", "given": "Ottavia M", "initials": "OM"}, {"family": "Orrego", "given": "Julio C\u00e9sar", "initials": "JC"}, {"family": "Yatim", "given": "Ahmad", "initials": "A"}, {"family": "Velasquez-Lopera", "given": "Margarita M", "initials": "MM"}, {"family": "Zea-Vera", "given": "Andr\u00e9s F", "initials": "AF"}, {"family": "Bohlen", "given": "Jonathan", "initials": "J"}, {"family": "Chbihi", "given": "Marwa", "initials": "M"}, {"family": "Fayand", "given": "Antoine", "initials": "A"}, {"family": "S\u00e1nchez", "given": "Juan Pablo", "initials": "JP"}, {"family": "Rojas", "given": "Julian", "initials": "J"}, {"family": "Seeleuthner", "given": "Yoann", "initials": "Y"}, {"family": "Le Voyer", "given": "Tom", "initials": "T"}, {"family": "Philippot", "given": "Quentin", "initials": "Q"}, {"family": "Payne", "given": "Kathryn J", "initials": "KJ"}, {"family": "Gervais", "given": "Adrian", "initials": "A"}, {"family": "Erazo-Borr\u00e1s", "given": "Lucia V", "initials": "LV"}, {"family": "Correa-Londo\u00f1o", "given": "Luis A", "initials": "LA"}, {"family": "Cederholm", "given": "Axel", "initials": "A"}, {"family": "Gall\u00f3n-Duque", "given": "Alejandro", "initials": "A"}, {"family": "Goncalves", "given": "Pedro", "initials": "P"}, {"family": "Doisne", "given": "Jean-Marc", "initials": "JM"}, {"family": "Horev", "given": "Liran", "initials": "L"}, {"family": "Charmeteau-de Muylder", "given": "B\u00e9n\u00e9dicte", "initials": "B"}, {"family": "\u00c1lvarez", "given": "Jes\u00fas \u00c1", "initials": "J\u00c1"}, {"family": "Arboleda", "given": "Diana M", "initials": "DM"}, {"family": "P\u00e9rez-Zapata", "given": "Lizet", "initials": "L"}, {"family": "V\u00e1squez-Echeverri", "given": "Estefan\u00eda", "initials": "E"}, {"family": "Moncada-V\u00e9lez", "given": "Marcela", "initials": "M"}, {"family": "L\u00f3pez", "given": "Juan A", "initials": "JA"}, {"family": "Caicedo", "given": "Yolanda", "initials": "Y"}, {"family": "Palterer", "given": "Boaz", "initials": "B"}, {"family": "Pati\u00f1o", "given": "Pablo J", "initials": "PJ"}, {"family": "Montoya", "given": "Carlos J", "initials": "CJ"}, {"family": "Chaldebas", "given": "Matthieu", "initials": "M"}, {"family": "Zhang", "given": "Peng", "initials": "P"}, {"family": "Nguyen", "given": "Tina", "initials": "T"}, {"family": "Ma", "given": "Cindy S", "initials": "CS"}, {"family": "Jeljeli", "given": "Mohamed", "initials": "M"}, {"family": "Alzate", "given": "Juan F", "initials": "JF"}, {"family": "Cabarcas", "given": "Felipe", "initials": "F"}, {"family": "Khan", "given": "Taushif", "initials": "T"}, {"family": "Rinchai", "given": "Darawan", "initials": "D"}, {"family": "Pr\u00e9tet", "given": "Jean-Luc", "initials": "JL"}, {"family": "Boisson", "given": "Bertrand", "initials": "B"}, {"family": "Generalized Verrucosis Japanese Consortium", "given": "", "initials": ""}, {"family": "Marr", "given": "Nico", "initials": "N"}, {"family": "Ibrahim", "given": "Ruba", "initials": "R"}, {"family": "Molho-Pessach", "given": "Vered", "initials": "V"}, {"family": "Boisson-Dupuis", "given": "St\u00e9phanie", "initials": "S"}, {"family": "Kiritsi", "given": "Dimitra", "initials": "D"}, {"family": "Barata", "given": "Jo\u00e3o T", "initials": "JT"}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Neven", "given": "B\u00e9n\u00e9dicte", "initials": "B"}, {"family": "Abel", "given": "Laurent", "initials": "L"}, {"family": "Lisco", "given": "Andrea", "initials": "A"}, {"family": "B\u00e9ziat", "given": "Vivien", "initials": "V"}, {"family": "Jouanguy", "given": "Emmanuelle", "initials": "E"}, {"family": "Bustamante", "given": "Jacinta", "initials": "J"}, {"family": "Di Santo", "given": "James P", "initials": "JP"}, {"family": "Tangye", "given": "Stuart G", "initials": "SG"}, {"family": "Notarangelo", "given": "Luigi D", "initials": "LD"}, {"family": "Cheynier", "given": "R\u00e9mi", "initials": "R"}, {"family": "Natsuga", "given": "Ken", "initials": "K"}, {"family": "Arias", "given": "Andr\u00e9s A", "initials": "AA"}, {"family": "Franco", "given": "Jos\u00e9 Luis", "initials": "JL"}, {"family": "Warnatz", "given": "Klaus", "initials": "K"}, {"family": "Casanova", "given": "Jean-Laurent", "initials": "JL"}, {"family": "Puel", "given": "Anne", "initials": "A"}], "type": "journal article", "published": "2024-10-01", "journal": {"title": "J. Clin. Invest.", "issn": "1558-8238", "volume": "134", "issue": "19", "issn-l": "0021-9738"}, "abstract": "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 TCR\u03b3\u03b4+ T cells and some TCR\u03b1\u03b2+ 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.", "doi": "10.1172/JCI180251", "pmid": "39352394", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11444196"}, {"db": "pii", "key": "180251"}], "notes": [], "created": "2026-08-20T12:16:44.724Z", "modified": "2026-08-21T09:33:17.217Z"}