{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["45(1)"],"submitter":["Briones AC"],"pubmed_abstract":["<h4>Background</h4>The CD247 chain of the T-cell receptor (TCR) is essential for normal T cell development and function. Reported CD247-deficient patients showed severe immunodeficiency despite the presence of two populations of peripheral T cells, most with low TCR levels carrying the germline variant and a few with higher TCR levels due to somatic reversion. However, the revertant T cells remained a minority and did not improve the patients' clinical status.<h4>Purpose</h4>To compare the capability of somatic revertant variants of CD247 germline changes (p.M1T and p.Q70X) to restore TCR expression and function.<h4>Methods</h4>CD247 wild-type (WT) and p.Q70L/W/Y somatic variants were individually introduced in CD247-deficient mouse (MA5.8), human mutant (PM1T), and CRISPR/Cas9-generated J"],"journal":["Journal of clinical immunology"],"pagination":["116"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12296992"],"repository":["biostudies-literature"],"pubmed_title":["Discordant Restoration of TCR Expression and Function by CD247 Somatic Reversions."],"pmcid":["PMC12296992"],"pubmed_authors":["Lopez-Nevado M","Cardenas PP","Chaparro-Garcia R","Fernandez-Malave E","Chacon-Arguedas D","Marin AV","Briones AC","Abia D","Regueiro JR","Estevez-Benito I"],"additional_accession":[]},"is_claimable":false,"name":"Discordant Restoration of TCR Expression and Function by CD247 Somatic Reversions.","description":"<h4>Background</h4>The CD247 chain of the T-cell receptor (TCR) is essential for normal T cell development and function. Reported CD247-deficient patients showed severe immunodeficiency despite the presence of two populations of peripheral T cells, most with low TCR levels carrying the germline variant and a few with higher TCR levels due to somatic reversion. However, the revertant T cells remained a minority and did not improve the patients' clinical status.<h4>Purpose</h4>To compare the capability of somatic revertant variants of CD247 germline changes (p.M1T and p.Q70X) to restore TCR expression and function.<h4>Methods</h4>CD247 wild-type (WT) and p.Q70L/W/Y somatic variants were individually introduced in CD247-deficient mouse (MA5.8), human mutant (PM1T), and CRISPR/Cas9-generated J","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jul","modification":"2026-03-27T17:04:23.172Z","creation":"2025-08-28T03:08:59.69Z"},"accession":"S-EPMC12296992","cross_references":{"pubmed":["40711587"],"doi":["10.1007/s10875-025-01908-9"]}}