Al Qureshah

Feb 27, 2024 | zenodo.org | Al Ali |Le Voyer |Paul Bastard |Thangavel Alphonse |Al Qureshah |Seyed Mohammad | +4 more

We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre–a T cell receptor (pre-TCRa) expression. Low circulating naive ab T cell counts at birth persisted over time, with normal memory ab and high gd T cell counts. Their TCRa repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue ab T cell development. Only a minority of these individuals were sick, with infection, lymphoproliferation, and/or autoimmunity.