{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bravo-Perez C"],"funding":["Vera and Joseph Dresner Foundation","Instituto de Salud Carlos III","European Research Council","National Heart, Lung, and Blood Institute","Sigrid Juselius Foundation","Cancer Foundation Finland","VeloSano","ERA PerMed","Academy of Finland Heal-Art consortium","Aplastic Anemia and MDS International Foundation","Edward P. Evans Foundation"],"pagination":["e184431"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12043085"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["135(9)"],"pubmed_abstract":["BACKGROUNDT cell large granular lymphocyte leukemia (T-LGLL) is a lymphoproliferative disorder of cytotoxic T lymphocytes (CTLs), often with gain-of-function STAT3 mutations. T-LGLL represents a unique model for the study of persistent CTL expansions. Albeit autoimmunity is implied, various paradoxical observations led us to investigate whether immunodeficiency traits underpin T-LGLL.METHODSThis is a comprehensive immunogenomic study of 92 consecutive patients from a large T-LGLL cohort with full laboratory-clinical characterization (n = 271). Whole-exome profiling of variants associated with inborn errors of immunity (IEI) and somatic mutations in T cell lymphoid drivers was analyzed. Single-cell RNA-Seq and TCR-Seq in T-LGLL samples and RNA-Seq in T cell cancer cell lines were utilized t"],"journal":["The Journal of clinical investigation"],"pubmed_title":["Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia."],"pmcid":["PMC12043085"],"funding_grant_id":["JR22/00041","NA","JAKSTAT-TARGET consortium","647355","M-IMM 647355","R35HL135795","314442"],"pubmed_authors":["Ogbue O","Orland M","Kawashima N","Kubota Y","Guarnera L","Brady Z","Witt M","Huuhtanen J","Mandala A","Visconte V","Pagliuca S","Mustjoki S","Williams ND","Unlu S","Durmaz A","Bravo-Perez C","Ahmed A","Haddad C","Gurnari C","Maciejewski JP"],"additional_accession":[]},"is_claimable":false,"name":"Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.","description":"BACKGROUNDT cell large granular lymphocyte leukemia (T-LGLL) is a lymphoproliferative disorder of cytotoxic T lymphocytes (CTLs), often with gain-of-function STAT3 mutations. T-LGLL represents a unique model for the study of persistent CTL expansions. Albeit autoimmunity is implied, various paradoxical observations led us to investigate whether immunodeficiency traits underpin T-LGLL.METHODSThis is a comprehensive immunogenomic study of 92 consecutive patients from a large T-LGLL cohort with full laboratory-clinical characterization (n = 271). Whole-exome profiling of variants associated with inborn errors of immunity (IEI) and somatic mutations in T cell lymphoid drivers was analyzed. Single-cell RNA-Seq and TCR-Seq in T-LGLL samples and RNA-Seq in T cell cancer cell lines were utilized t","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2026-06-01T10:17:11.428Z","creation":"2025-07-08T03:12:48.886Z"},"accession":"S-EPMC12043085","cross_references":{"pubmed":["40309770"],"doi":["10.1172/JCI184431"]}}