Article
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Journal of clinical immunology - 23 Sept 2024
Saettini Francesco, Guerra Fabiola, Mauri Mario, Salter Claire G, Adam Margaret P, Adams David, Baple Emma L, Barredo Estibaliz, Bhatia Sanil, Borkhardt Arndt, Brusco Alfredo, Bugarin Cristina, Chinello Clizia, Crosby Andrew H, D'Souza Precilla, Denti Vanna, Fazio Grazia, Giuliani Silvia, Kuehn Hye Sun, Amel Hassan, Elmi Asha, Lo Bernice, Malighetti Federica, Mandrile Giorgia, Martín-Nalda Andrea, Mefford Heather C, Moratto Daniele, Emam Mousavi Fatemeh, Nelson Zoe, Gutiérrez-Solana Luis González, Macnamara Ellen, Michaud Vincent, O'Leary Melanie, Pagani Lisa, Pavinato Lisa, Santamaria Patricia VVelez, Planas-Serra Laura, Quadri Manuel, Raspall-Chaure Miquel, Rebellato Stefano, Rosenzweig Sergio D, Roubertie Agathe, Holzinger Dirk, Deal Christin, Vockley Catherine Walsh, Savino Angela Maria, L Stoddard Jennifer, Uhlig Holm H, Pujol Aurora, Magni Fulvio, Paglia Giuseppe, Cazzaniga Gianni, Piazza Rocco, Barberis Matteo, Biondi Andrea
Abstract excerpt
PURPOSE: PI4KA-related disorder is a highly clinically variable condition characterized by neurological (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus) and gastrointestinal (inflammatory bowel disease and multiple intestinal atresia) manifestations. Although features consistent with immunodeficiency (autoimmunity/autoinflammation and recurrent infections) have been...
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