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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 G. Salter,Margaret P. Adam,David Adams,Emma L. Baple,Estibaliz Barredo,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 Macnamara,Vincent Michaud,Melanie O’Leary,Lisa Pagani,Lisa Pavinato, Patricia VVelez Santamaria,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 L.Stoddard,Holm H. Uhlig,Aurora Pujol, Fulvio Magni,Giuseppe Paglia,Gianni Cazzaniga,Rocco Piazza,Matteo Barberis,Andrea Biondi

JOURNAL OF CLINICAL IMMUNOLOGY（2025）

Cited 1|Views12
Key words
PI4KA,Inborn error of immunity,Syndromic immunodeficiency,Hypogammaglobulinemia
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