Discordant Restoration of TCR Expression and Function by CD247 Somatic Reversions.

ABSTRACT:

Background

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.

Purpose

To compare the capability of somatic revertant variants of CD247 germline changes (p.M1T and p.Q70X) to restore TCR expression and function.

Methods

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

SUBMITTER: Briones AC 

PROVIDER: S-EPMC12296992 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature