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Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia

Francesco Saettini, Fabiola Guerra, Mario Mauri, Claire Salter, Margaret P Adam, David R. Adams, Emma L. Baple, Estíbaliz Barredo Valderrama, Sanil Bhatia, Arndt Borkhardt, Alfredo Brusco, Cristina Bugarin, Clizia Chinello, Andrew H Crosby, Precilla D’Souza, Vanna Denti, Grazia Fazio, Silvia Giuliani, Hye Sun Kuehn, Hassan Amel, Asha Elmi, Bernice Lo, Federica Malighetti, Giorgia Mandrile, Andrea Martín-Nalda, Heather C. Mefford, Daniele Moratto, Fatemeh Emam Mousavi, Zoe Nelson, Luis González Gutiérrez-Solana, Ellen F. Macnamara, Vincent Michaud, Melanie O’Leary, Lisa Pagani, Lisa Pavinato, P Santamaría, Laura Planas‐Serra, Manuel Quadri, Miquel Raspall‐Chaure, Stefano Rebellato, Sergio D. Rosenzweig, Agathe Roubertie, Dirk Holzinger, Christin Deal, Catherine Walsh Vockley, Angela Maria Savino, Jennifer Stoddard, Holm H. Uhlig, Aurora Pujol, Fulvio Magni, Giuseppe Paglia, Giovanni Cazzaniga, Rocco Piazza, Matteo Barberis, Andrea Biondi

2024Journal of Clinical Immunology15 citationsDOIOpen Access PDF

Topics & Concepts

HypogammaglobulinemiaMedical microbiologyCell metabolismImmunologyBiologyCellMedicineMicrobiologyGeneticsAntibodyImmunodeficiency and Autoimmune DisordersBlood disorders and treatmentsGenomics and Rare Diseases
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia | Litcius