{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["52(7)"],"submitter":["Milardi G"],"pubmed_abstract":["Common variable immunodeficiency (CVID) is the most frequent primary antibody deficiency whereby follicular helper T (Tfh) cells fail to establish productive responses with B cells in germinal centers. Here, we analyzed the frequency, phenotype, transcriptome, and function of circulating Tfh (cTfh) cells in CVID patients displaying autoimmunity as an additional phenotype. A group of patients showed a high frequency of cTfh1 cells and a prominent expression of PD-1 and ICOS as well as a cTfh mRNA signature consistent with highly activated, but exhausted, senescent, and apoptotic cells. Plasmatic CXCL13 levels were elevated in this group and positively correlated with cTfh1 cell frequency and PD-1 levels. Monoallelic variants in RTEL1, a telomere length- and DNA repair-related gene, were ide"],"journal":["European journal of immunology"],"pagination":["1171-1189"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9542315"],"repository":["biostudies-literature"],"pubmed_title":["Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency."],"pmcid":["PMC9542315"],"pubmed_authors":["De Pellegrin M","Rovere-Querini P","Bongiovanni L","Chetta AA","Vacca A","Barzaghi F","Pacillo L","Jofra T","Di Micco R","Giancotta C","Gerosa J","Matarese A","Piemonti L","Melzi R","Brigida I","Plebani A","Nano R","Piemontese S","Romano F","Trimarchi M","Darin S","Marinoni M","Cirillo E","Di Lorenzo B","Cicalese MP","Zoccolillo M","Merelli I","Cancrini C","Ponzoni M","Milardi G","Omrani M","Specchia F","Lougaris V","Montin D","Filippini M","Di Matteo G","Giardino G","Aiuti A","Pignata C","Conti A","Marktel S","Petrovas C","Assanelli A","Fousteri G","Laurenzi A","Danieli MG","Di Cesare S","Dionisio F","Dellepiane RM","Barcella M","Sordi V","Azzari C","Ferrua F","Pozzo Giuffrida F"],"additional_accession":[]},"is_claimable":false,"name":"Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.","description":"Common variable immunodeficiency (CVID) is the most frequent primary antibody deficiency whereby follicular helper T (Tfh) cells fail to establish productive responses with B cells in germinal centers. Here, we analyzed the frequency, phenotype, transcriptome, and function of circulating Tfh (cTfh) cells in CVID patients displaying autoimmunity as an additional phenotype. A group of patients showed a high frequency of cTfh1 cells and a prominent expression of PD-1 and ICOS as well as a cTfh mRNA signature consistent with highly activated, but exhausted, senescent, and apoptotic cells. Plasmatic CXCL13 levels were elevated in this group and positively correlated with cTfh1 cell frequency and PD-1 levels. Monoallelic variants in RTEL1, a telomere length- and DNA repair-related gene, were ide","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jul","modification":"2025-04-19T04:49:07.722Z","creation":"2025-04-19T04:49:07.722Z"},"accession":"S-EPMC9542315","cross_references":{"pubmed":["35562849"],"doi":["10.1002/eji.202149480"]}}