The immunopathological landscape of human pre-TCRα deficiency: from rare to common variants
DOI10.5281/zenodo.10716858Zenodo10716858MaRDI QIDQ6722895FDOQ6722895
Dataset published at Zenodo repository.
Kohsuke Imai, Benedicte Charmeteau, Vito Sabato, Marie-Alexandra Alyanakian, Elie Haddad, Jérôme Mégret Mégret, Andrea Guenoun, Fahd al-Mulla, Madoka Nishimura, Adrian Gervais, Manar Ata, Jose S. Campos, Renate Krüger, Mahnaz Sadeghi-Shabestari, Laurent Abel, Clotilde Bravetti, Kayla Amini, Remi Cheynier, Fowzan Alkuraya, Vivien Beziat, Bernard Malissen, Mashael al-Qahtani, Jean-Laurent Casanova, Isabelle Meyts, Marie Materna, Corentin le Floc'H, Frederik Staels, Aurélie Cobat, Amal Hasan, Flore Rozenberg, Frédéric Davi, Luigi Notarangelo, Emmanuelle Jouanguy, Tomoyuki Mizukami, Anne Langlois de Septenville, Nico Marr, Nasimeh Vatandoost, Yoann Seeleuthner, Mohsen Mazloomrezaei, Anaïs Pereira, María L. Toribio, Taushif Khan, Rebecca Bellworthy, Darawan Rinchai, Hervé Luche, Tomohiro Morio, Shahram Nasiri, David Langlais, Jérémie Rosain, Mirjam Völler, Toyofuku Etsushi, Kunihiko Moriya, Mohammad Shahrooei, Marianne Leruez-Ville, Fatima al Ali, Seyed Mohammad Akrami, Nima Parvaneh, Christian A. Ganoza, Noemia Lima, Natasha Vladikine, Francesca Pala, Alexandre Bolze, Paul Bastard Bastard, Mana Momenilandi, Rik Schrijvers, Fahd al Qureshah, Samir Sayed, Romain Lévy, Samuel Darko, Caroline Deswarte, Mansoor Salehi, Hossein Moravej, Masato Ogishi, Axel Cederholm, Paula P. Cardenas, Judith R. Kelsen, Daniel Eriksson, Hassan Rokni-Zadeh, Jose Regueiro, Ottavia Delmonte, Peyton Conrey, Michael Dussiot, Christian Beetz, Horst von Bernuth, Soma Jyonouchi, Daniel C. Douek, Marita Bosticardo, Sanjana Shah, Majid Changi-Ashtiani, Tom le Voyer, Nils Landegren, Thangavel Alphonse Thanaraj, Sarah Henrickson, John Tello-Cajiao, Mehdi Torabizadeh, Chaim Schramm, Laureline Berteloot, Boaz Palterer
Publication date: 27 February 2024
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. We also report that 1 in 4000 individuals from the Middle East and South Asia are homozygous for a common hypomorphic PTCRA variant. They had normal circulating naive ab T cell counts but high gd T cell counts. Although residual pre-TCRa expression drove the differentiation of more ab T cells, autoimmune conditions were more frequent in these patients compared with the general population.
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