TY - JOUR AU - Materna, Marie AU - Cárdenas Mastrascusa, Paula Patricia AU - Regueiro González-Barros, José Ramón AU - Béziat, Vivien PY - 2024 DO - 10.1126/science.adh4059 SN - 0036-8075 UR - https://hdl.handle.net/20.500.14352/107408 T2 - Science AB - We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre-TCRα expression. Low circulating naïve αβ T cell counts at birth persisted over time, with normal memory αβ and high γδ T cell counts. Their TCRα repertoire was... LA - eng PB - American Association for the Advancement of Science TI - The immunopathological landscape of human pre-TCRα deficiency: from rare to common variants TY - journal article VL - 383 ER -