Search Results - "Calbi, Valeria"

Intrabone hematopoietic stem cell gene therapy for adult and pediatric patients affected by transfusion-dependent ß-thalassemia by Marktel, Sarah, Scaramuzza, Samantha, Cicalese, Maria Pia, Giglio, Fabio, Galimberti, Stefania, Lidonnici, Maria Rosa, Calbi, Valeria, Assanelli, Andrea, Bernardo, Maria Ester, Rossi, Claudia, Calabria, Andrea, Milani, Raffaella, Gattillo, Salvatore, Benedicenti, Fabrizio, Spinozzi, Giulio, Aprile, Annamaria, Bergami, Alessandra, Casiraghi, Miriam, Consiglieri, Giulia, Masera, Nicoletta, D’Angelo, Emanuela, Mirra, Nadia, Origa, Raffaella, Tartaglione, Immacolata, Perrotta, Silverio, Winter, Robert, Coppola, Milena, Viarengo, Gianluca, Santoleri, Luca, Graziadei, Giovanna, Gabaldo, Michela, Valsecchi, Maria Grazia, Montini, Eugenio, Naldini, Luigi, Cappellini, Maria Domenica, Ciceri, Fabio, Aiuti, Alessandro, Ferrari, Giuliana

“…ß-thalassemia is caused by ß-globin gene mutations resulting in reduced (β + ) or absent (β 0 ) hemoglobin production. Patient life expectancy has recently…”
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Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I by Penati, Rachele, Fumagalli, Francesca, Calbi, Valeria, Bernardo, Maria Ester, Aiuti, Alessandro

“…Lysosomal storage diseases (LSDs) are rare inherited metabolic disorders characterized by a dysfunction in lysosomes, leading to waste material accumulation…”
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Retrieval of vector integration sites from cell-free DNA by Cesana, Daniela, Calabria, Andrea, Rudilosso, Laura, Gallina, Pierangela, Benedicenti, Fabrizio, Spinozzi, Giulio, Schiroli, Giulia, Magnani, Alessandra, Acquati, Serena, Fumagalli, Francesca, Calbi, Valeria, Witzel, Maximilian, Bushman, Frederic D., Cantore, Alessio, Genovese, Pietro, Klein, Christoph, Fischer, Alain, Cavazzana, Marina, Six, Emmanuelle, Aiuti, Alessandro, Naldini, Luigi, Montini, Eugenio

“…Gene therapy (GT) has rapidly attracted renewed interest as a treatment for otherwise incurable diseases, with several GT products already on the market and…”
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Distinct Viral and Mutational Spectrum of Endemic Burkitt Lymphoma by Abate, Francesco, Ambrosio, Maria Raffaella, Mundo, Lucia, Laginestra, Maria Antonella, Fuligni, Fabio, Rossi, Maura, Zairis, Sakellarios, Gazaneo, Sara, De Falco, Giulia, Lazzi, Stefano, Bellan, Cristiana, Rocca, Bruno Jim, Amato, Teresa, Marasco, Elena, Etebari, Maryam, Ogwang, Martin, Calbi, Valeria, Ndede, Isaac, Patel, Kirtika, Chumba, David, Piccaluga, Pier Paolo, Pileri, Stefano, Leoncini, Lorenzo, Rabadan, Raul

“…Endemic Burkitt lymphoma (eBL) is primarily found in children in equatorial regions and represents the first historical example of a virus-associated human…”
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The proteasome load versus capacity balance determines apoptotic sensitivity of multiple myeloma cells to proteasome inhibition by Bianchi, Giada, Oliva, Laura, Cascio, Paolo, Pengo, Niccolò, Fontana, Francesca, Cerruti, Fulvia, Orsi, Andrea, Pasqualetto, Elena, Mezghrani, Alexandre, Calbi, Valeria, Palladini, Giovanni, Giuliani, Nicola, Anderson, Kenneth C., Sitia, Roberto, Cenci, Simone

“…Proteasome inhibitors (PIs) are effective against multiple myeloma (MM), but the mechanisms of action and bases of individual susceptibility remain unclear…”
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Emapalumab treatment in an ADA-SCID patient with refractory hemophagocytic lymphohistiocytosis-related graft failure and disseminated bacillus Calmette-Guérin infection by Tucci, Francesca, Gallo, Vera, Barzaghi, Federica, Ferrua, Francesca, Migliavacca, Maddalena, Calbi, Valeria, Doglio, Matteo, Fratini, Elena Sophia, Karakas, Zeynep, Guner, Sukru, Zambelli, Matilde, Parisi, Cristina, Milani, Raffaella, Gattillo, Salvatore, Mazzi, Benedetta, Oltolini, Chiara, Barbera, Maurizio, Baldoli, Cristina, Cirillo, Daniela Maria, Asnaghi, Veronica, De Min, Cristina, Cicalese, Maria Pia, Ciceri, Fabio, Aiuti, Alessandro, Bernardo, Maria Ester

“…Emapalumab, a fully human anti-IFNγ monoclonal antibody, has been approved in the US as second-line treatment of primary hemophagocytic lymphohistiocytosis…”
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Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries by Schoenmakers, Daphne H, Mochel, Fanny, Adang, Laura A, Boelens, Jaap-Jan, Calbi, Valeria, Eklund, Erik A, Grønborg, Sabine W, Fumagalli, Francesca, Groeschel, Samuel, Lindemans, Caroline, Sevin, Caroline, Schöls, Ludger, Ram, Dipak, Zerem, Ayelet, Graessner, Holm, Wolf, Nicole I

“…For decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack…”
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A Case of Two Adult Brothers with Wiskott-Aldrich Syndrome, One Treated with Gene Therapy and One with HLA-Identical Hematopoietic Stem Cell Transplantation by Consiglieri, Giulia, Ferrua, Francesca, Aiuti, Alessandro, Cicalese, Maria Pia

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Clonality Analysis of Immunoglobulin Gene Rearrangement by Next-Generation Sequencing in Endemic Burkitt Lymphoma Suggests Antigen Drive Activation of BCR as Opposed to Sporadic Burkitt Lymphoma by Amato, Teresa, Abate, Francesco, Piccaluga, Pierpaolo, Iacono, Michele, Fallerini, Chiara, Renieri, Alessandra, De Falco, Giulia, Ambrosio, Maria Raffaella, Mourmouras, Vaselious, Ogwang, Martin, Calbi, Valeria, Rabadan, Roul, Hummel, Michael, Pileri, Stefano, Leoncini, Lorenzo, Bellan, Cristiana

“…Objectives: Recent studies using next-generation sequencing (NGS) analysis disclosed the importance of the intrinsic activation of the B-cell receptor (BCR)…”
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The alteration of lipid metabolism in Burkitt lymphoma identifies a novel marker: adipophilin by Ambrosio, Maria R, Piccaluga, Pier P, Ponzoni, Maurilio, Rocca, Bruno J, Malagnino, Valeria, Onorati, Monica, De Falco, Giulia, Calbi, Valeria, Ogwang, Martin, Naresh, Kikkeri N, Pileri, Stefano A, Doglioni, Claudio, Leoncini, Lorenzo, Lazzi, Stefano

“…Recent evidence suggests that lipid pathway is altered in many human tumours. In Burkitt lymphoma this is reflected by the presence of lipid droplets which are…”
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Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review by Fratini, Elena Sophia, Migliavacca, Maddalena, Barzaghi, Federica, Fossati, Claudia, Giannelli, Stefania, Monti, Ilaria, Casiraghi, Miriam, Ferrua, Francesca, Recupero, Salvatore, Consiglieri, Giulia, Calbi, Valeria, Tucci, Francesca, Gallo, Vera, Bernardo, Maria Ester, Cenciarelli, Sabina, Palmoni, Monica, Moni, Margherita, Galimberti, Luca, Duse, Marzia, Leonardi, Lucia, Sieni, Elena, Soncini, Elena, Porta, Fulvio, Notarangelo, Lucia Dora, De Santis, Raffaella, Ladogana, Saverio, Aiuti, Alessandro, Cicalese, Maria Pia

“…Hemophagocytic inflammatory syndrome (HIS) is a rare form of secondary hemophagocytic lymphohistiocytosis caused by an impaired equilibrium between natural…”
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Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency by Barzaghi, Federica, Cicalese, Maria Pia, Zoccolillo, Matteo, Brigida, Immacolata, Barcella, Matteo, Merelli, Ivan, Sartirana, Claudia, Zanussi, Monica, Calbi, Valeria, Bernardo, Maria Ester, Tucci, Francesca, Migliavacca, Maddalena, Giglio, Fabio, Doglio, Matteo, Canarutto, Daniele, Ferrua, Francesca, Consiglieri, Giulia, Prunotto, Giulia, Saettini, Francesco, Bonanomi, Sonia, Rovere-Querini, Patrizia, Di Colo, Giulia, Jofra, Tatiana, Fousteri, Georgia, Penco, Federica, Gattorno, Marco, Hershfield, Michael S., Bongiovanni, Lucia, Ponzoni, Maurilio, Marktel, Sarah, Milani, Raffaella, Peccatori, Jacopo, Ciceri, Fabio, Mortellaro, Alessandra, Aiuti, Alessandro

“…Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, including vasculitis,…”
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A Case of William's Syndrome in a Ugandan Child: A Feasible Diagnosis Even in a Low-Resource Setting by Mapelli, Massimo, Zagni, Paola, Calbi, Valeria, Twalib, Aliku, Ferrara, Roberto, Agostoni, Piergiuseppe

“…Williams-Beuren syndrome (WS) is a rare, complex, congenital developmental disorder including cardiovascular manifestations, intellectual disability and a…”
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Bone marrow harvesting from paediatric patients undergoing haematopoietic stem cell gene therapy by Tucci, Francesca, Frittoli, Marta, Barzaghi, Federica, Calbi, Valeria, Migliavacca, Maddalena, Ferrua, Francesca, Fumagalli, Francesca, Lorioli, Laura, Castagnaro, Laura, Facchini, Marcella, Fossati, Claudia, Zancan, Stefano, Massariello, Paola, Manfredini, Michele, Consiglieri, Giulia, Canarutto, Daniele, Recupero, Salvatore, Calzatini, Francesco, Casiraghi, Miriam, Darin, Silvia, Antonioli, Gigliola, Miniero, Roberto, Fiori, Rossana, Silvani, Paolo, Zambelli, Matilde, Marktel, Sarah, Gattillo, Salvatore, Milani, Raffaella, Santoleri, Luca, Ciceri, Fabio, Biffi, Alessandra, Cicalese, Maria Pia, Bernardo, Maria Ester, Aiuti, Alessandro

“…Collection of an adequate amount of autologous haematopoietic stem progenitor cells (HSPC) is required for ex vivo manipulation and successful engraftment for…”
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Mild SARS-CoV-2 Infection After Gene Therapy in a Child With Wiskott-Aldrich Syndrome: A Case Report by Cenciarelli, Sabina, Calbi, Valeria, Barzaghi, Federica, Bernardo, Maria Ester, Oltolini, Chiara, Migliavacca, Maddalena, Gallo, Vera, Tucci, Francesca, Fraschetta, Federico, Albertazzi, Elena, Fratini, Elena Sophia, Consiglieri, Giulia, Giannelli, Stefania, Dionisio, Francesca, Sartirana, Claudia, Racca, Sara, Camesasca, Chiara, Peretto, Giovanni, Daverio, Rita, Esposito, Antonio, De Cobelli, Francesco, Silvani, Paolo, Rabusin, Marco, Cara, Andrea, Trabattoni, Daria, Dispinseri, Stefania, Scarlatti, Gabriella, Piemonti, Lorenzo, Lampasona, Vito, Cicalese, Maria Pia, Aiuti, Alessandro, Ferrua, Francesca

“…In this work we present the case of SARS-CoV-2 infection in a 1.5-year-old boy affected by severe Wiskott-Aldrich Syndrome with previous history of…”
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Unexpected Huge Prevalence of Intracardiac Extension of Wilms Tumor-A Single Center Experience from a Ugandan Hospital by Mapelli, Massimo, Zagni, Paola, Ferrara, Roberto, Calbi, Valeria, Mattavelli, Irene, Muratori, Manuela, Kansiime, Jackson, Opira, Cyprian, Agostoni, Piergiuseppe

“…Wilms tumor (WT) is the most common primary renal malignancy in young children. WT vascular extension to the inferior vena cava (IVC) occurs in 4-10% of cases…”
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Peripheral blood stem and progenitor cell collection in pediatric candidates for ex vivo gene therapy: a 10-year series by Canarutto, Daniele, Tucci, Francesca, Gattillo, Salvatore, Zambelli, Matilde, Calbi, Valeria, Gentner, Bernhard, Ferrua, Francesca, Marktel, Sarah, Migliavacca, Maddalena, Barzaghi, Federica, Consiglieri, Giulia, Gallo, Vera, Fumagalli, Francesca, Massariello, Paola, Parisi, Cristina, Viarengo, Gianluca, Albertazzi, Elena, Silvani, Paolo, Milani, Raffaella, Santoleri, Luca, Ciceri, Fabio, Cicalese, Maria Pia, Bernardo, Maria Ester, Aiuti, Alessandro

“…Hematopoietic stem and progenitor cell (HSPC)-based gene therapy (GT) requires the collection of a large number of cells. While bone marrow (BM) is the most…”
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Echocardiographic Screening for Rheumatic Heart Disease in a Ugandan Orphanage: Feasibility and Outcomes by Mapelli, Massimo, Zagni, Paola, Calbi, Valeria, Fusini, Laura, Twalib, Aliku, Ferrara, Roberto, Mattavelli, Irene, Alberghina, Laura, Salvioni, Elisabetta, Opira, Cyprian, Kansiime, Jackson, Tamborini, Gloria, Pepi, Mauro, Agostoni, Piergiuseppe

“…Background: Rheumatic heart disease (RHD) is a major cause of cardiovascular disease in developing nations, leading to more than 230,000 deaths annually. Most…”
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P005: Atidarsagene autotemcel (hematopoietic stem cell–gene therapy) preserves cognitive and motor development in metachromatic leukodystrophy with up to 12 years follow-up by Fumagalli, Francesca, Calbi, Valeria, De Mattia, Fabiola, Zambon, Alberto, Gallo, Vera, Recupero, Salvatore, Fratini, Elena Sophia, Ippolito, Alessia, Ciotti, Francesca, Fraschini, Maddalena, Sarzana, Marina, Scarparo, Stefano, Montini, Eugenio, Locatelli, Sara, Facchini, Marcella, Clerici, Alessandra, Morena, Francesco, Martino, Sabata, Yarzi, Muska, Moro, Sean, Shenker, Andrew, Brooks, Jean, Richardson, Alan, Meltzer, Leslie, Campbell, Laura, Aiuti, Alessandro

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Outcome of BCG Vaccination in ADA-SCID Patients: A 12-Patient Series by Canarutto, Daniele, Oltolini, Chiara, Barzaghi, Federica, Calbi, Valeria, Migliavacca, Maddalena, Tucci, Francesca, Gallo, Vera, Consiglieri, Giulia, Ferrua, Francesca, Recupero, Salvatore, Cervi, Maria Celia, Al-Mousa, Hamoud, Pituch-Noworolska, Anna, Tassan Din, Chiara, Scarpellini, Paolo, Silvani, Paolo, Fossati, Claudia, Casiraghi, Miriam, Cirillo, Daniela Maria, Castagna, Antonella, Bernardo, Maria Ester, Aiuti, Alessandro, Cicalese, Maria Pia

“…Vaccination with Bacillus Calmette-Guérin (BCG) can be harmful to patients with combined primary immunodeficiencies. We report the outcome of BCG vaccination…”
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