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Genotypes Truncating the Intracellular Tail of Human Pre-Tcrα: From Amorphic to Isomorphic Publisher



Materna M ; Beetz C ; Ganoza CA ; Deswarte C ; Estrela LP ; Parvaneh N ; Casanova JL ; Beziat V
Authors

Source: Journal of Human Immunity Published:2026


Abstract

Using large genomic datasets, we identified six individuals homozygous for intracellular tail truncating PTCRA variants. Functional assays revealed two hypomorphic and one neutral alleles, demonstrating that most intracellular truncations retain pre-TCRα activity, establishing the tail as largely dispensable for pre-TCR assembly. © 2025 Materna et al.