biostudies-literatureUnknown45(1)Briones AC<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 JJournal of clinical immunology116https://www.ebi.ac.uk/biostudies/studies/S-EPMC12296992biostudies-literatureDiscordant Restoration of TCR Expression and Function by CD247 Somatic Reversions.PMC12296992Lopez-Nevado MCardenas PPChaparro-Garcia RFernandez-Malave EChacon-Arguedas DMarin AVBriones ACAbia DRegueiro JREstevez-Benito IfalseDiscordant Restoration of TCR Expression and Function by CD247 Somatic Reversions.<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 J2025-01-01T00:00:00Z2025 Jul2026-03-27T17:04:23.172Z2025-08-28T03:08:59.69ZS-EPMC122969924071158710.1007/s10875-025-01908-9