RAC2 and primary human immune deficiencies
Lougaris, Vassilios, Baronio, Manuela, Gazzurelli, Luisa, Benvenuto, Alessio, Plebani, Alessandro
Published in Journal of leukocyte biology (01.08.2020)
Published in Journal of leukocyte biology (01.08.2020)
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Defective natural killer–cell cytotoxic activity in NFKB2-mutated CVID-like disease
Lougaris, Vassilios, MD, Tabellini, Giovanna, PhD, Vitali, Massimiliano, PhD, Baronio, Manuela, PhD, Patrizi, Ornella, PhD, Tampella, Giacomo, PhD, Biasini, Augusto, MD, Moratto, Daniele, PhD, Parolini, Silvia, PhD, Plebani, Alessandro, MD, PhD
Published in Journal of allergy and clinical immunology (01.06.2015)
Published in Journal of allergy and clinical immunology (01.06.2015)
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A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency
Lougaris, Vassilios, Chou, Janet, Beano, Abdallah, Wallace, Jacqueline G., Baronio, Manuela, Gazzurelli, Luisa, Lorenzini, Tiziana, Moratto, Daniele, Tabellini, Giovanna, Parolini, Silvia, Seleman, Michael, Stafstrom, Kelsey, Xu, Haiming, Harris, Chad, Geha, Raif S., Plebani, Alessandro
Published in Journal of allergy and clinical immunology (01.04.2019)
Published in Journal of allergy and clinical immunology (01.04.2019)
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DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation
Jabara, Haifa H, McDonald, Douglas R, Janssen, Erin, Massaad, Michel J, Ramesh, Narayanaswamy, Borzutzky, Arturo, Rauter, Ingrid, Benson, Halli, Schneider, Lynda, Baxi, Sachin, Recher, Mike, Notarangelo, Luigi D, Wakim, Rima, Dbaibo, Ghassan, Dasouki, Majed, Al-Herz, Waleed, Barlan, Isil, Baris, Safa, Kutukculer, Necil, Ochs, Hans D, Plebani, Alessandro, Kanariou, Maria, Lefranc, Gerard, Reisli, Ismail, Fitzgerald, Katherine A, Golenbock, Douglas, Manis, John, Keles, Sevgi, Ceja, Reuben, Chatila, Talal A, Geha, Raif S
Published in Nature immunology (01.06.2012)
Published in Nature immunology (01.06.2012)
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The EUROclass trial: defining subgroups in common variable immunodeficiency
Wehr, Claudia, Kivioja, Teemu, Schmitt, Christian, Ferry, Berne, Witte, Torsten, Eren, Efrem, Vlkova, Marcela, Hernandez, Manuel, Detkova, Drahomira, Bos, Philip R., Poerksen, Gonke, von Bernuth, Horst, Baumann, Ulrich, Goldacker, Sigune, Gutenberger, Sylvia, Schlesier, Michael, Bergeron-van der Cruyssen, Florence, Le Garff, Magali, Debré, Patrice, Jacobs, Roland, Jones, John, Bateman, Elizabeth, Litzman, Jiri, van Hagen, P. Martin, Plebani, Alessandro, Schmidt, Reinhold E., Thon, Vojtech, Quinti, Isabella, Espanol, Teresa, Webster, A. David, Chapel, Helen, Vihinen, Mauno, Oksenhendler, Eric, Peter, Hans Hartmut, Warnatz, Klaus
Published in Blood (01.01.2008)
Published in Blood (01.01.2008)
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The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88
Cerutti, Andrea, He, Bing, Santamaria, Raul, Xu, Weifeng, Cols, Montserrat, Chen, Kang, Puga, Irene, Shan, Meimei, Xiong, Huabao, Bussel, James B, Chiu, April, Puel, Anne, Reichenbach, Jeanine, Marodi, László, Döffinger, Rainer, Vasconcelos, Julia, Issekutz, Andrew, Krause, Jens, Davies, Graham, Li, Xiaoxia, Grimbacher, Bodo, Plebani, Alessandro, Meffre, Eric, Picard, Capucine, Cunningham-Rundles, Charlotte, Casanova, Jean-Laurent
Published in Nature immunology (01.09.2010)
Published in Nature immunology (01.09.2010)
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Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper‐IgM syndrome
Vavassori, Valentina, Mercuri, Elisabetta, Marcovecchio, Genni E, Castiello, Maria C, Schiroli, Giulia, Albano, Luisa, Margulies, Carrie, Buquicchio, Frank, Fontana, Elena, Beretta, Stefano, Merelli, Ivan, Cappelleri, Andrea, Rancoita, Paola MV, Lougaris, Vassilios, Plebani, Alessandro, Kanariou, Maria, Lankester, Arjan, Ferrua, Francesca, Scanziani, Eugenio, Cotta‐Ramusino, Cecilia, Villa, Anna, Naldini, Luigi, Genovese, Pietro
Published in EMBO molecular medicine (05.03.2021)
Published in EMBO molecular medicine (05.03.2021)
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A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP
Lanzi, Gaetana, Moratto, Daniele, Vairo, Donatella, Masneri, Stefania, Delmonte, Ottavia, Paganini, Tiziana, Parolini, Silvia, Tabellini, Giovanna, Mazza, Cinzia, Savoldi, Gianfranco, Montin, Davide, Martino, Silvana, Tovo, Pierangelo, Pessach, Itai M, Massaad, Michel J, Ramesh, Narayanaswamy, Porta, Fulvio, Plebani, Alessandro, Notarangelo, Luigi D, Geha, Raif S, Giliani, Silvia
Published in The Journal of experimental medicine (16.01.2012)
Published in The Journal of experimental medicine (16.01.2012)
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Early and late B-cell developmental impairment in nuclear factor kappa B, subunit 1–mutated common variable immunodeficiency disease
Lougaris, Vassilios, MD, Moratto, Daniele, PhD, Baronio, Manuela, PhD, Tampella, Giacomo, PhD, van der Meer, Jos W.M., MD, Badolato, Raffaele, MD, PhD, Fliegauf, Manfred, PhD, Plebani, Alessandro, MD, PhD
Published in Journal of allergy and clinical immunology (01.01.2017)
Published in Journal of allergy and clinical immunology (01.01.2017)
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Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations
Tabellini, Giovanna, PhD, Vairo, Donatella, PhD, Scomodon, Omar, PhD, Tamassia, Nicola, PhD, Ferraro, Rosalba Monica, PhD, Patrizi, Ornella, PhD, Gasperini, Sara, PhD, Soresina, Annarosa, MD, Giardino, Giuliana, MD, Pignata, Claudio, MD, Lougaris, Vassilios, MD, Plebani, Alessandro, MD, Dotta, Laura, MD, Cassatella, Marco A., MD, Parolini, Silvia, PhD, Badolato, Raffaele, MD, PhD
Published in Journal of allergy and clinical immunology (01.08.2017)
Published in Journal of allergy and clinical immunology (01.08.2017)
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A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly
Capitani, Nagaja, Onnis, Anna, Finetti, Francesca, Cassioli, Chiara, Plebani, Alessandro, Brunetti, Jlenia, Troilo, Arianna, D'Elios, Sofia, Baronio, Manuela, Gazzurelli, Luisa, Della Bella, Chiara, Billadeau, Daniel D, D'Elios, Mario Milco, Lougaris, Vassilios, Baldari, Cosima T
Published in Cell death and differentiation (01.01.2022)
Published in Cell death and differentiation (01.01.2022)
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NFKB2 regulates human Tfh and Tfr pool formation and germinal center potential
De Leo, Pasqualina, Gazzurelli, Luisa, Baronio, Manuela, Montin, Davide, Di Cesare, Silvia, Giancotta, Carmen, Licciardi, Francesco, Cancrini, Caterina, Aiuti, Alessandro, Plebani, Alessandro, Cicalese, Maria Pia, Lougaris, Vassilios, Fousteri, Georgia
Published in Clinical immunology (Orlando, Fla.) (01.01.2020)
Published in Clinical immunology (Orlando, Fla.) (01.01.2020)
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Bruton tyrosine kinase mediates TLR9 -dependent human dendritic cell activation
Lougaris, Vassilios, MD, Baronio, Manuela, PhD, Vitali, Massimiliano, PhD, Tampella, Giacomo, PhD, Cattalini, Marco, MD, Tassone, Laura, PhD, Soresina, Annarosa, MD, Badolato, Raffaele, MD, PhD, Plebani, Alessandro, MD, PhD
Published in Journal of allergy and clinical immunology (01.06.2014)
Published in Journal of allergy and clinical immunology (01.06.2014)
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Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial
Chessa, Luciana, Leuzzi, Vincenzo, Plebani, Alessandro, Soresina, Annarosa, Micheli, Roberto, D'Agnano, Daniela, Venturi, Tullia, Molinaro, Anna, Fazzi, Elisa, Marini, Mirella, Ferremi Leali, Pierino, Quinti, Isabella, Cavaliere, Filomena Monica, Girelli, Gabriella, Pietrogrande, Maria Cristina, Finocchi, Andrea, Tabolli, Stefano, Abeni, Damiano, Magnani, Mauro
Published in Orphanet journal of rare diseases (09.01.2014)
Published in Orphanet journal of rare diseases (09.01.2014)
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Emergence of Letermovir-resistant HCMV UL56 mutant during rescue treatment in a liver transplant recipient with ganciclovir-resistant infection HCMV: a case report
Paolucci, Stefania, Campanini, Giulia, Cassaniti, Irene, Tebaldi, Alessandra, Novazzi, Federica, Fratini, Alice, Meini, Antonella, Girelli, Federica, Palumbo, Laura, Plebani, Alessandro, Baldanti, Fausto
Published in BMC infectious diseases (23.09.2021)
Published in BMC infectious diseases (23.09.2021)
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Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in Common Variable Immunodeficiency (CVID): A Multicenter Retrospective Study of Patients From Italian PID Referral Centers
Cinetto, Francesco, Scarpa, Riccardo, Carrabba, Maria, Firinu, Davide, Lougaris, Vassilios, Buso, Helena, Garzi, Giulia, Gianese, Sabrina, Soccodato, Valentina, Punziano, Alessandra, Lagnese, Gianluca, Tessarin, Giulio, Costanzo, Giulia, Landini, Nicholas, Vio, Stefania, Bondioni, Maria Pia, Consonni, Dario, Marasco, Carolina, Del Giacco, Stefano, Rattazzi, Marcello, Vacca, Angelo, Plebani, Alessandro, Fabio, Giovanna, Spadaro, Giuseppe, Agostini, Carlo, Quinti, Isabella, Milito, Cinzia
Published in Frontiers in immunology (10.03.2021)
Published in Frontiers in immunology (10.03.2021)
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CpG Drives Human Transitional B Cells to Terminal Differentiation and Production of Natural Antibodies
Capolunghi, Federica, Cascioli, Simona, Giorda, Ezio, Rosado, Maria Manuela, Plebani, Alessandro, Auriti, Cinzia, Seganti, Giulio, Zuntini, Roberta, Ferrari, Simona, Cagliuso, Maria, Quinti, Isabella, Carsetti, Rita
Published in The Journal of immunology (1950) (15.01.2008)
Published in The Journal of immunology (1950) (15.01.2008)
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Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing
Gallo, Vera, Dotta, Laura, Giardino, Giuliana, Cirillo, Emilia, Lougaris, Vassilios, D'Assante, Roberta, Prandini, Alberto, Consolini, Rita, Farrow, Emily G, Thiffault, Isabelle, Saunders, Carol J, Leonardi, Antonio, Plebani, Alessandro, Badolato, Raffaele, Pignata, Claudio
Published in Frontiers in immunology (07.11.2016)
Published in Frontiers in immunology (07.11.2016)
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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Lahrouchi, Najim, George, Aman, Ratbi, Ilham, Schneider, Ronen, Elalaoui, Siham C, Moosa, Shahida, Bharti, Sanita, Sharma, Ruchi, Abu-Asab, Mones, Onojafe, Felix, Adadi, Najlae, Lodder, Elisabeth M, Laarabi, Fatima-Zahra, Lamsyah, Yassine, Elorch, Hamza, Chebbar, Imane, Postma, Alex V, Lougaris, Vassilios, Plebani, Alessandro, Altmueller, Janine, Kyrieleis, Henriette, Meiner, Vardiella, McNeill, Helen, Bharti, Kapil, Lyonnet, Stanislas, Wollnik, Bernd, Henrion-Caude, Alexandra, Berraho, Amina, Hildebrandt, Friedhelm, Bezzina, Connie R, Brooks, Brian P, Sefiani, Abdelaziz
Published in Nature communications (12.03.2019)
Published in Nature communications (12.03.2019)
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Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency
Quinti, Isabella, Soresina, Annarosa, Spadaro, Giuseppe, Martino, Silvana, Donnanno, Simona, Agostini, Carlo, Claudio, Pignata, Franco, Dammacco, Maria Pesce, Anna, Borghese, Federica, Guerra, Andrea, Rondelli, Roberto, Plebani, Alessandro
Published in Journal of Clinical Immunology (01.05.2007)
Published in Journal of Clinical Immunology (01.05.2007)
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