VOLPI, STEFANO
VOLPI, STEFANO
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
2019-01-01 Volpi, Stefano; Cicalese, Maria Pia; Tuijnenburg, Paul; Tool, Anton T J; Cuadrado, Eloy; Abu-Halaweh, Marwan; Ahanchian, Hamid; Alzyoud, Raed; Akdemir, Zeynep Coban; Barzaghi, Federica; Blank, Alexander; Boisson, Bertrand; Bottino, Cristina; Brigida, Immacolata; Caorsi, Roberta; Casanova, Jean-Laurent; Chiesa, Sabrina; Chinn, Ivan Kingyue; Dückers, Gregor; Enders, Anselm; Erichsen, Hans Christian; Forbes, Lisa R; Gambin, Tomasz; Gattorno, Marco; Karimiani, Ehsan Ghayoor; Giliani, Silvia; Gold, Michael S; Jacobsen, Eva-Maria; Jansen, Machiel H; King, Jovanka R; Laxer, Ronald M; Lupski, James R; Mace, Emily; Marcenaro, Stefania; Maroofian, Reza; Meijer, Alexander B; Niehues, Tim; Notarangelo, Luigi D; Orange, Jordan; Pannicke, Ulrich; Pearson, Chris; Picco, Paolo; Quinn, Patrick J; Schulz, Ansgar; Seeborg, Filiz; Stray-Pedersen, Asbjørg; Tawamie, Hasan; van Leeuwen, Ester M M; Aiuti, Alessandro; Yeung, Rae; Schwarz, Klaus; Kuijpers, Taco W
A novel LC–MS/MS-based method for the diagnosis of ADA2 deficiency from dried plasma spot
2021-01-01 Cafaro, A.; Pigliasco, F.; Barco, S.; Penco, F.; Schena, F.; Caorsi, R.; Volpi, S.; Tripodi, G.; Gattorno, M.; Cangemi, G.
A Report of 2 Cases of Kidney Involvement in ADA2 Deficiency: Different Disease Phenotypes and the Tissue Response to Type I Interferon
2022-01-01 Trivioli, Giorgio; Gelain, Elena; Angelotti, Maria L; Ravaglia, Fiammetta; Allinovi, Marco; Lodi, Lorenzo; Caroti, Leonardo; Buccoliero, Annamaria; Emmi, Giacomo; Gattorno, Marco; Romagnani, Paola; Volpi, Stefano; Vaglio, Augusto
A three-dimensional model of human lung development and disease from pluripotent stem cells
2017-01-01 Chen, Ya-Wen; Huang, Sarah Xuelian; De Carvalho, Ana Luisa Rodrigues Toste; Ho, Siu-Hong; Islam, Mohammad Naimul; Volpi, Stefano; Notarangelo, Luigi D.; Ciancanelli, Michael; Casanova, Jean-Laurent; Bhattacharya, Jahar; Liang, Alice F.; Palermo, Laura M.; Porotto, Matteo; Moscona, Anne; Snoeck, Hans-Willem
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation
2021-01-01 Papa, R.; Penco, F.; Volpi, S.; Gattorno, M.
Activated phosphoinositide 3-dinase delta syndrome (APDS): An update
2022-01-01 Lougaris, V.; Cancrini, C.; Rivalta, B.; Castagnoli, R.; Giardino, G.; Volpi, S.; Leonardi, L.; La Torre, F.; Federici, S.; Corrente, S.; Cinicola, B. L.; Soresina, A.; Marseglia, G. L.; Cardinale, F.
Activated PI3Kd breaches multiple B cell tolerance checkpoints and causes autoantibody production
2020-01-01 Lau, A.; Avery, D. T.; Jackson, K.; Lenthall, H.; Volpi, S.; Brigden, H.; Russell, A. J.; Bier, J.; Reed, J. H.; Smart, J. M.; Cole, T.; Choo, S.; Gray, P. E.; Berglund, L. J.; Hsu, P.; Wong, M.; O'Sullivan, M.; Boztug, K.; Meyts, I.; Uzel, G.; Notarangelo, L. D.; Brink, R.; Goodnow, C. C.; Tangye, S. G.; Deenick, E. K.; Deenick, E. K.
Activated PI3Kd breaches multiple B cell tolerance checkpoints and causes autoantibody production
2020-01-01 Lau, A.; Avery, D. T.; Jackson, K.; Lenthall, H.; Volpi, S.; Brigden, H.; Russell, A. J.; Bier, J.; Reed, J. H.; Smart, J. M.; Cole, T.; Choo, S.; Gray, P. E.; Berglund, L. J.; Hsu, P.; Wong, M.; O'Sullivan, M.; Boztug, K.; Meyts, I.; Uzel, G.; Notarangelo, L. D.; Brink, R.; Goodnow, C. C.; Tangye, S. G.; Deenick, E. K.; Deenick, E. K.
Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production
2020-01-01 Lau, Anthony; Avery, Danielle T.; Jackson, Katherine; Lenthall, Helen; Volpi, Stefano; Brigden, Henry; Russell, Amanda J.; Bier, Julia; Reed, Joanne H.; Smart, Joanne M.; Cole, Theresa; Choo, Sharon; Gray, Paul E.; Berglund, Lucinda J.; Hsu, Peter; Wong, Melanie; O’Sullivan, Michael; Boztug, Kaan; Meyts, Isabelle; Uzel, Gulbu; Notarangelo, Luigi D.; Brink, Robert; Goodnow, Christopher C.; Tangye, Stuart G.; Deenick, Elissa K.
Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity
2022-01-01 Signa, Sara; Bertoni, Arinna; Penco, Federica; Caorsi, Roberta; Cafaro, Alessia; Cangemi, Giuliana; Volpi, Stefano; Gattorno, Marco; Schena, Francesca
Allele-specific regulation of primary cilia function by the von Hippel-Lindau tumor suppressor
2008-01-01 Lolkema, Martijn P.; Mans, Dorus A.; Ulfman, Laurien H.; Volpi, Stefano; Voest, Emile E.; Giles, Rachel H.
An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy
2021-01-01 Bertamino, M.; Signa, S.; Vagelli, G.; Caorsi, R.; Zanetti, A.; Volpi, S.; Losurdo, G.; Amico, G.; Dodi, I.; Prato, G.; Ronchetti, A. B.; Di Rocco, M.; Nagel, M.; Severino, M.
Analysis of pulmonary features and treatment approaches in the COPA syndrome
2018-01-01 Tsui, Jessica L; Estrada, Oscar A; Deng, Zimu; Wang, Kristin M; Law, Christopher S; Elicker, Brett M; Jones, Kirk D; Dell, Sharon D; Gudmundsson, Gunnar; Hansdottir, Sif; Helfgott, Simon M; Volpi, Stefano; Gattorno, Marco; Waterfield, Michael R; Chan, Alice Y; Chung, Sharon A; Ley, Brett; Shum, Anthony K
Autoantibody-mediated impairment of DNASE1L3 activity in sporadic systemic lupus erythematosus
2021-01-01 Hartl, J.; Serpas, L.; Wang, Y.; Rashidfarrokhi, A.; Perez, O. A.; Sally, B.; Sisirak, V.; Soni, C.; hodadadi-Jamayran, A.; Tsirigos, A.; Caiello, I.; Bracaglia, C.; Volpi, S.; Ghiggeri, G. M.; Chida, A. S.; Sanz, I.; Kim, M. Y.; Michael Belmont, H.; Silverman, G. J.; Clancy, R. M.; Izmirly, P. M.; Buyon, J. P.; Reizis, B.
B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice
2012-01-01 Recher, Mike; Burns, Siobhan O.; De La Fuente, Miguel A.; Volpi, Stefano; Dahlberg, Carin; Walter, Jolan E.; Moffitt, Kristin; Mathew, Divij; Honke, Nadine; Lang, Philipp A.; Patrizi, Laura; Falet, Hervé; Keszei, Marton; Mizui, Masayuki; Csizmadia, Eva; Candotti, Fabio; Nadeau, Kari; Bouma, Gerben; Delmonte, Ottavia M.; Frugoni, Francesco; Ferraz Fomin, Angela B.; Buchbinder, David; Lundequist, Emma Maria; Massaad, Michel J.; Tsokos, George C.; Hartwig, John; Manis, John; Terhorst, Cox; Geha, Raif S.; Snapper, Scott; Lang, Karl S.; Malley, Richard; Westerberg, Lisa; Thrasher, Adrian J.; Notarangelo, Luigi D.
Bone marrow-derived mesenchymal stem cells induce both polyclonal expansion and differentiation of B cells isolated from healthy donors and systemic lupus erythematosus patients
2008-01-01 Traggiai, Elisabetta; Volpi, Stefano; Schena, Francesca; Gattorno, Marco; Ferlito, Francesca; Moretta, Lorenzo; Martini, Alberto
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia
2015-01-01 Crestani, Elena; Volpi, Stefano; Candotti, Fabio; Giliani, Silvia; Notarangelo, Lucia Dora; Chu, Julia; Becerra, Juan Carlos Aldave; Buchbinder, David; Chou, Janet; Geha, Raif S.; Kanariou, Maria; King, Alejandra; Mazza, Cinzia; Moratto, Daniele; Sokolic, Robert; Garabedian, Elizabeth; Porta, Fulvio; Putti, Maria Caterina; Wakim, Rima H.; Tsitsikov, Erdyni; Pai, Sung-Yun; Notarangelo, Luigi D.
CD70 deficiency due to a novel mutation in a patient with severe chronic EBV infection presenting as a periodic fever
2018-01-01 Caorsi, Roberta; Rusmini, Marta; Volpi, Stefano; Chiesa, Sabrina; Pastorino, Claudia; Sementa, ANGELA RITA; Uva, Paolo; Grossi, Alice; Lanino, Edoardo; Faraci, Maura; Minoia, Francesca; Signa, Sara; Picco, Paolo; Martini, Alberto; Ceccherini, Isabella; Gattorno, Marco
Circulating follicular helper and follicular regulatory T cells are severely compromised in human CD40 deficiency: A case report
2018-01-01 Cicalese, Maria Pia; Gerosa, Jolanda; Baronio, Manuela; Montin, Davide; Licciardi, Francesco; Soresina, Annarosa; Dellepiane, Rosa Maria; Miano, Maurizio; Baselli, Lucia Augusta; Volpi, Stefano; Dufour, Carlo; Plebani, Alessandro; Aiuti, Alessandro; Lougaris, Vassilios; Fousteri, Georgia
Clinical characterization, long-term follow-up, and response to treatment of patients with syndrome of undifferentiated recurrent fever (SURF)
2022-01-01 Sutera, Diana; Bustaffa, Marta; Papa, Riccardo; Matucci-Cerinic, Caterina; Matarese, Simona; D'Orsi, Claudia; Penco, Federica; Prigione, Ignazia; Palmeri, Serena; Bovis, Francesca; Volpi, Stefano; Caorsi, Roberta; Gattorno, Marco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency | 1-gen-2019 | Volpi, Stefano; Cicalese, Maria Pia; Tuijnenburg, Paul; Tool, Anton T J; Cuadrado, Eloy; Abu-Halaweh, Marwan; Ahanchian, Hamid; Alzyoud, Raed; Akdemir, Zeynep Coban; Barzaghi, Federica; Blank, Alexander; Boisson, Bertrand; Bottino, Cristina; Brigida, Immacolata; Caorsi, Roberta; Casanova, Jean-Laurent; Chiesa, Sabrina; Chinn, Ivan Kingyue; Dückers, Gregor; Enders, Anselm; Erichsen, Hans Christian; Forbes, Lisa R; Gambin, Tomasz; Gattorno, Marco; Karimiani, Ehsan Ghayoor; Giliani, Silvia; Gold, Michael S; Jacobsen, Eva-Maria; Jansen, Machiel H; King, Jovanka R; Laxer, Ronald M; Lupski, James R; Mace, Emily; Marcenaro, Stefania; Maroofian, Reza; Meijer, Alexander B; Niehues, Tim; Notarangelo, Luigi D; Orange, Jordan; Pannicke, Ulrich; Pearson, Chris; Picco, Paolo; Quinn, Patrick J; Schulz, Ansgar; Seeborg, Filiz; Stray-Pedersen, Asbjørg; Tawamie, Hasan; van Leeuwen, Ester M M; Aiuti, Alessandro; Yeung, Rae; Schwarz, Klaus; Kuijpers, Taco W | |
| A novel LC–MS/MS-based method for the diagnosis of ADA2 deficiency from dried plasma spot | 1-gen-2021 | Cafaro, A.; Pigliasco, F.; Barco, S.; Penco, F.; Schena, F.; Caorsi, R.; Volpi, S.; Tripodi, G.; Gattorno, M.; Cangemi, G. | |
| A Report of 2 Cases of Kidney Involvement in ADA2 Deficiency: Different Disease Phenotypes and the Tissue Response to Type I Interferon | 1-gen-2022 | Trivioli, Giorgio; Gelain, Elena; Angelotti, Maria L; Ravaglia, Fiammetta; Allinovi, Marco; Lodi, Lorenzo; Caroti, Leonardo; Buccoliero, Annamaria; Emmi, Giacomo; Gattorno, Marco; Romagnani, Paola; Volpi, Stefano; Vaglio, Augusto | |
| A three-dimensional model of human lung development and disease from pluripotent stem cells | 1-gen-2017 | Chen, Ya-Wen; Huang, Sarah Xuelian; De Carvalho, Ana Luisa Rodrigues Toste; Ho, Siu-Hong; Islam, Mohammad Naimul; Volpi, Stefano; Notarangelo, Luigi D.; Ciancanelli, Michael; Casanova, Jean-Laurent; Bhattacharya, Jahar; Liang, Alice F.; Palermo, Laura M.; Porotto, Matteo; Moscona, Anne; Snoeck, Hans-Willem | |
| Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation | 1-gen-2021 | Papa, R.; Penco, F.; Volpi, S.; Gattorno, M. | |
| Activated phosphoinositide 3-dinase delta syndrome (APDS): An update | 1-gen-2022 | Lougaris, V.; Cancrini, C.; Rivalta, B.; Castagnoli, R.; Giardino, G.; Volpi, S.; Leonardi, L.; La Torre, F.; Federici, S.; Corrente, S.; Cinicola, B. L.; Soresina, A.; Marseglia, G. L.; Cardinale, F. | |
| Activated PI3Kd breaches multiple B cell tolerance checkpoints and causes autoantibody production | 1-gen-2020 | Lau, A.; Avery, D. T.; Jackson, K.; Lenthall, H.; Volpi, S.; Brigden, H.; Russell, A. J.; Bier, J.; Reed, J. H.; Smart, J. M.; Cole, T.; Choo, S.; Gray, P. E.; Berglund, L. J.; Hsu, P.; Wong, M.; O'Sullivan, M.; Boztug, K.; Meyts, I.; Uzel, G.; Notarangelo, L. D.; Brink, R.; Goodnow, C. C.; Tangye, S. G.; Deenick, E. K.; Deenick, E. K. | |
| Activated PI3Kd breaches multiple B cell tolerance checkpoints and causes autoantibody production | 1-gen-2020 | Lau, A.; Avery, D. T.; Jackson, K.; Lenthall, H.; Volpi, S.; Brigden, H.; Russell, A. J.; Bier, J.; Reed, J. H.; Smart, J. M.; Cole, T.; Choo, S.; Gray, P. E.; Berglund, L. J.; Hsu, P.; Wong, M.; O'Sullivan, M.; Boztug, K.; Meyts, I.; Uzel, G.; Notarangelo, L. D.; Brink, R.; Goodnow, C. C.; Tangye, S. G.; Deenick, E. K.; Deenick, E. K. | |
| Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production | 1-gen-2020 | Lau, Anthony; Avery, Danielle T.; Jackson, Katherine; Lenthall, Helen; Volpi, Stefano; Brigden, Henry; Russell, Amanda J.; Bier, Julia; Reed, Joanne H.; Smart, Joanne M.; Cole, Theresa; Choo, Sharon; Gray, Paul E.; Berglund, Lucinda J.; Hsu, Peter; Wong, Melanie; O’Sullivan, Michael; Boztug, Kaan; Meyts, Isabelle; Uzel, Gulbu; Notarangelo, Luigi D.; Brink, Robert; Goodnow, Christopher C.; Tangye, Stuart G.; Deenick, Elissa K. | |
| Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity | 1-gen-2022 | Signa, Sara; Bertoni, Arinna; Penco, Federica; Caorsi, Roberta; Cafaro, Alessia; Cangemi, Giuliana; Volpi, Stefano; Gattorno, Marco; Schena, Francesca | |
| Allele-specific regulation of primary cilia function by the von Hippel-Lindau tumor suppressor | 1-gen-2008 | Lolkema, Martijn P.; Mans, Dorus A.; Ulfman, Laurien H.; Volpi, Stefano; Voest, Emile E.; Giles, Rachel H. | |
| An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy | 1-gen-2021 | Bertamino, M.; Signa, S.; Vagelli, G.; Caorsi, R.; Zanetti, A.; Volpi, S.; Losurdo, G.; Amico, G.; Dodi, I.; Prato, G.; Ronchetti, A. B.; Di Rocco, M.; Nagel, M.; Severino, M. | |
| Analysis of pulmonary features and treatment approaches in the COPA syndrome | 1-gen-2018 | Tsui, Jessica L; Estrada, Oscar A; Deng, Zimu; Wang, Kristin M; Law, Christopher S; Elicker, Brett M; Jones, Kirk D; Dell, Sharon D; Gudmundsson, Gunnar; Hansdottir, Sif; Helfgott, Simon M; Volpi, Stefano; Gattorno, Marco; Waterfield, Michael R; Chan, Alice Y; Chung, Sharon A; Ley, Brett; Shum, Anthony K | |
| Autoantibody-mediated impairment of DNASE1L3 activity in sporadic systemic lupus erythematosus | 1-gen-2021 | Hartl, J.; Serpas, L.; Wang, Y.; Rashidfarrokhi, A.; Perez, O. A.; Sally, B.; Sisirak, V.; Soni, C.; hodadadi-Jamayran, A.; Tsirigos, A.; Caiello, I.; Bracaglia, C.; Volpi, S.; Ghiggeri, G. M.; Chida, A. S.; Sanz, I.; Kim, M. Y.; Michael Belmont, H.; Silverman, G. J.; Clancy, R. M.; Izmirly, P. M.; Buyon, J. P.; Reizis, B. | |
| B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice | 1-gen-2012 | Recher, Mike; Burns, Siobhan O.; De La Fuente, Miguel A.; Volpi, Stefano; Dahlberg, Carin; Walter, Jolan E.; Moffitt, Kristin; Mathew, Divij; Honke, Nadine; Lang, Philipp A.; Patrizi, Laura; Falet, Hervé; Keszei, Marton; Mizui, Masayuki; Csizmadia, Eva; Candotti, Fabio; Nadeau, Kari; Bouma, Gerben; Delmonte, Ottavia M.; Frugoni, Francesco; Ferraz Fomin, Angela B.; Buchbinder, David; Lundequist, Emma Maria; Massaad, Michel J.; Tsokos, George C.; Hartwig, John; Manis, John; Terhorst, Cox; Geha, Raif S.; Snapper, Scott; Lang, Karl S.; Malley, Richard; Westerberg, Lisa; Thrasher, Adrian J.; Notarangelo, Luigi D. | |
| Bone marrow-derived mesenchymal stem cells induce both polyclonal expansion and differentiation of B cells isolated from healthy donors and systemic lupus erythematosus patients | 1-gen-2008 | Traggiai, Elisabetta; Volpi, Stefano; Schena, Francesca; Gattorno, Marco; Ferlito, Francesca; Moretta, Lorenzo; Martini, Alberto | |
| Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia | 1-gen-2015 | Crestani, Elena; Volpi, Stefano; Candotti, Fabio; Giliani, Silvia; Notarangelo, Lucia Dora; Chu, Julia; Becerra, Juan Carlos Aldave; Buchbinder, David; Chou, Janet; Geha, Raif S.; Kanariou, Maria; King, Alejandra; Mazza, Cinzia; Moratto, Daniele; Sokolic, Robert; Garabedian, Elizabeth; Porta, Fulvio; Putti, Maria Caterina; Wakim, Rima H.; Tsitsikov, Erdyni; Pai, Sung-Yun; Notarangelo, Luigi D. | |
| CD70 deficiency due to a novel mutation in a patient with severe chronic EBV infection presenting as a periodic fever | 1-gen-2018 | Caorsi, Roberta; Rusmini, Marta; Volpi, Stefano; Chiesa, Sabrina; Pastorino, Claudia; Sementa, ANGELA RITA; Uva, Paolo; Grossi, Alice; Lanino, Edoardo; Faraci, Maura; Minoia, Francesca; Signa, Sara; Picco, Paolo; Martini, Alberto; Ceccherini, Isabella; Gattorno, Marco | |
| Circulating follicular helper and follicular regulatory T cells are severely compromised in human CD40 deficiency: A case report | 1-gen-2018 | Cicalese, Maria Pia; Gerosa, Jolanda; Baronio, Manuela; Montin, Davide; Licciardi, Francesco; Soresina, Annarosa; Dellepiane, Rosa Maria; Miano, Maurizio; Baselli, Lucia Augusta; Volpi, Stefano; Dufour, Carlo; Plebani, Alessandro; Aiuti, Alessandro; Lougaris, Vassilios; Fousteri, Georgia | |
| Clinical characterization, long-term follow-up, and response to treatment of patients with syndrome of undifferentiated recurrent fever (SURF) | 1-gen-2022 | Sutera, Diana; Bustaffa, Marta; Papa, Riccardo; Matucci-Cerinic, Caterina; Matarese, Simona; D'Orsi, Claudia; Penco, Federica; Prigione, Ignazia; Palmeri, Serena; Bovis, Francesca; Volpi, Stefano; Caorsi, Roberta; Gattorno, Marco |