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Article

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

Journal of clinical immunology - 25 Jul 2025

Briones Alejandro C, Marin Ana V, Chaparro-García Rebeca, López-Nevado Marta, Abia David, Estevez-Benito Ivan, Chacón-Arguedas Daniel, Fernández-Malavé Edgar, Cardenas Paula P, Regueiro José R

Abstract excerpt

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...

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Identifiers

PMID: 40711587
DOI: 10.1007/s10875-025-01908-9
PMCID: PMC12296992

Genes

CD247
CD69
ZAP70

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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