Article
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Science (New York, N.Y.) - 1 Mar 2024
Materna Marie, Delmonte Ottavia M, Bosticardo Marita, Momenilandi Mana, Conrey Peyton E, Charmeteau-De Muylder Bénédicte, Bravetti Clotilde, Bellworthy Rebecca, Cederholm Axel, Staels Frederik, Ganoza Christian A, Darko Samuel, Sayed Samir, Le Floc'h Corentin, Ogishi Masato, Rinchai Darawan, Guenoun Andrea, Bolze Alexandre, Khan Taushif, Gervais Adrian, Krüger Renate, Völler Mirjam, Palterer Boaz, Sadeghi-Shabestari Mahnaz, Langlois de Septenville Anne, Schramm Chaim A, Shah Sanjana, Tello-Cajiao John J, Pala Francesca, Amini Kayla, Campos Jose S, Lima Noemia Santana, Eriksson Daniel, Lévy Romain, Seeleuthner Yoann, Jyonouchi Soma, Ata Manar, Al Ali Fatima, Stittrich Anna, Deswarte Caroline, Pereira Anaïs, Mégret Jérôme, Le Voyer Tom, Bastard Paul, Berteloot Laureline, Dussiot Michaël, Vladikine Natasha, Cardenas Paula P, Jouanguy Emmanuelle, Alqahtani Mashael, Hasan Amal, Thanaraj Thangavel Alphonse, Rosain Jérémie, Al Qureshah Fahd, Sabato Vito, Alyanakian Marie Alexandra, Leruez-Ville Marianne, Rozenberg Flore, Haddad Elie, Regueiro Jose R, Toribio Maria L, Kelsen Judith R, Salehi Mansoor, Nasiri Shahram, Torabizadeh Mehdi, Rokni-Zadeh Hassan, Changi-Ashtiani Majid, Vatandoost Nasimeh, Moravej Hossein, Akrami Seyed Mohammad, Mazloomrezaei Mohsen, Cobat Aurélie, Meyts Isabelle, Toyofuku Etsushi, Nishimura Madoka, Moriya Kunihiko, Mizukami Tomoyuki, Imai Kohsuke, Abel Laurent, Malissen Bernard, Al-Mulla Fahd, Alkuraya Fowzan Sami, Parvaneh Nima, von Bernuth Horst, Beetz Christian, Davi Frédéric, Douek Daniel C, Cheynier Rémi, Langlais David, Landegren Nils, Marr Nico, Morio Tomohiro, Shahrooei Mohammad, Schrijvers Rik, Henrickson Sarah E, Luche Hervé, Notarangelo Luigi D, Casanova Jean-Laurent, Béziat Vivien
Abstract excerpt
We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre-α T cell receptor (pre-TCRα) expression. Low circulating naive αβ T cell counts at birth persisted over time, with normal memory αβ and high γδ T cell counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue αβ T cell development. Only a minority of these individuals...