Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation
IKKα激酶结构域的复合杂合突变会导致免疫缺陷和免疫失调。
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doi:10.1101/2024.05.17.24307356
Riller, Quentin; Sorin, Boris; Courteille, Charline; Ho-Nhat, Duong; Voyer, Tom Le; Debray, Jean-Christophe; Stolzenberg, Marie-Claude; Pellé, Olivier; Becquard, Thomas; Riestra, María Rodrigo; Berteloot, Laureline; Migaud, Mélanie; Delage, Laure; Jeanpierre, Marie; Boussard, Charlotte; Brunaud, Camille; Magérus, Aude; Michel, Victor; Roux, Camille; Picard, Capucine; Masson, Cécile; Bole-Feysot, Christine; Cagnard, Nicolas; Corneau, Aurélien; Meyts, Isabelle; Baud, Véronique; Casanova, Jean-Laurent; Fischer, Alain; Dejardin, Emmanuel; Puel, Anne; Boulanger, Cécile; Neven, Bénédicte; Rieux-Laucat, Frédéric