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Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.
Riller Q, Sorin B, Courteille C, Ho-Nhat D, Le Voyer T, Debray JC, Stolzenberg MC, Schmutz M, Pellé O, Becquard T, Rodrigo Riestra M, Berteloot L, Migaud M, Delage L, Jeanpierre M, Boussard C, Brunaud C, Magérus A, Bretot C, Michel V, Roux C, Picard C, Masson C, Bole-Feysot C, Cagnard N, Corneau A, Meyts I, Baud V, Casanova JL, Fischer A, Dejardin E, Puel A, Boulanger C, Neven B, Rieux-Laucat F. Riller Q, et al. J Exp Med. 2025 Feb 3;222(2):e20240843. doi: 10.1084/jem.20240843. Epub 2025 Jan 15. J Exp Med. 2025. PMID: 39812688