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Journal Articles

Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia

Francesco Saettini, Fabiola Guerra, Mario Mauri, Grazia Fazio, Cristina Bugarin, Manuel Quadri, Stefano Rebellato, Clizia Chinello, Lisa Pagani, Federica Malighetti, Luis González Gutiérrez-Solana, Vanna Denti, Fatemeh Emam Mousavi, Miquell Raspall-Chaure, Martin-Nalda Andrea, Estibaliz Barredo, David Adams, O'Leary Melanie, Precilla D'Souza, Ellen Macnamara, Sergio Rosenzweig, Hye Sun Kuehn, Jennifer Stoddard, Heather C Mefford, Giorgia Mandrile, Lisa Pavinato, Alfredo Brusco, Patricia Valentina Velez Santamaria, Aurora Pujol, Vincent Michaud, Agathe Roubertie, Zoe Nelson, Margaret P Adam, Bernice Lo, Holm Uhlig, Claire G Salter, Emma Baple, Andrew H Crosby, Sanil Bhatia, Fulvio Magni, Giuseppe Paglia, Giovanni Cazzaniga, Rocco Piazza, Andrea Biondi, Matteo Barberis
Journal: Blood
Blood (2023) 142 (Supplement 1): 153.
https://doi.org/10.1182/blood-2023-185551
Published: 2023
Journal Articles

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency

Clinical Trials & Observations
Bernice Lo, Jill M. Fritz, Helen C. Su, Gulbu Uzel, Michael B. Jordan, Michael J. Lenardo
Journal: Blood
Blood (2016) 128 (8): 1037–1042.
https://doi.org/10.1182/blood-2016-04-712612
Published: 2016
Journal Articles

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

Susan Price, Pamela A. Shaw, Amy Seitz, Gyan Joshi, Joie Davis, Julie E. Niemela, Katie Perkins, Ronald L. Hornung, Les Folio, Philip S. Rosenberg, Jennifer M. Puck, Amy P. Hsu, Bernice Lo, Stefania Pittaluga, Elaine S. Jaffe, Thomas A. Fleisher, V. Koneti Rao, Michael J. Lenardo
Journal: Blood
Blood (2014) 123 (13): 1989–1999.
https://doi.org/10.1182/blood-2013-10-535393
Published: 2014
Includes: Supplemental data