GATTORNO, MARCO
GATTORNO, MARCO
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A child with a novel ACAN missense variant mimicking a septic arthritis
2019-01-01 Florio, Angelo; Papa, R.; Caorsi, R.; Consolaro, A.; Gastaldi, R.; Gattorno, M.; Picco, P.
A circulating reservoir of pathogenic-like CD4+ T cells shares a genetic and phenotypic signature with the inflamed synovial micro-environment
2016-01-01 Spreafico, R.; Rossetti, M.; Van Loosdregt, J.; Wallace, C. A.; Massa, M.; Magni-Manzoni, S.; Gattorno, M.; Martini, A.; Lovell, D. J.; Albani, S.
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 Method for Therapeutic Drug Monitoring of Baricitinib in Plasma of Pediatric Patients
2023-01-01 Cafaro, Alessia; Baiardi, Giammarco; Pigliasco, Federica; Barco, Sebastiano; Mattioli, Francesca; Volpi, Stefano; Caorsi, Roberta; Gattorno, Marco; Cangemi, Giuliana
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 web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
2017-01-01 Papa, R.; Doglio, M.; Lachmann, H. J.; Ozen, S.; Frenkel, J.; Simon, A.; Neven, B.; Kuemmerle-Deschner, J.; Ozgodan, H.; Caorsi, R.; Federici, S.; Finetti, M.; Trachana, M.; Brunner, J.; Bezrodnik, L.; Pinedo Gago, M. C.; Maggio, M. C.; Tsitsami, E.; Al Suwairi, W.; Espada, G.; Shcherbina, Anna; Aksu, G.; Ruperto, N.; Martini, A.; Ceccherini, I.; Gattorno, M.
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation
2021-01-01 Papa, R.; Penco, F.; Volpi, S.; Gattorno, M.
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study
2017-01-01 Caorsi, Roberta; Penco, Federica; Grossi, Alice; Insalaco, Antonella; Omenetti, Alessia; Alessio, Maria; Conti, Giovanni; Marchetti, Federico; Picco, Paolo; Tommasini, Alberto; Martino, Silvana; Malattia, Clara; Gallizi, Romina; Podda, Rosa Anna; Salis, Annalisa; Falcini, Fernanda; Schena, Francesca; Garbarino, Francesca; Morreale, Alessia; Pardeo, Manuela; Ventrici, Claudia; Passarelli, Chiara; Zhou, Qing; Severino, Mariasavina; Gandolfo, Carlo; Damonte, Gianluca; Martini, Alberto; Ravelli, Angelo; Aksentijevich, Ivona; Ceccherini, Isabella; Gattorno, Marco
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
An international delphi survey for the definition of new classification criteria for familial mediterranean fever, mevalonate kinase deficiency, TNF receptor-associated periodic fever syndromes, and cryopyrin-associated periodic syndrome
2019-01-01 Federici, S.; Vanoni, F.; Ben-Chetrit, E.; Cantarini, L.; Frenkel, J.; Goldbach-Mansky, R.; Gul, A.; Hoffman, H.; Kone-Paut, I.; Kuemmerle-Deschner, J.; Lachmann, H. J.; Martini, A.; Obici, L.; Ozen, S.; Simon, A.; Hofer, M.; Gattorno, M.
An international delphi survey for the definition of the variables for the development of new classification criteria for periodic fever aphtous stomatitis pharingitis cervical adenitis (PFAPA)
2018-01-01 Vanoni, F.; Federici, S.; Anton, J.; Barron, K. S.; Brogan, P.; De Benedetti, F.; Dedeoglu, F.; Demirkaya, E.; Hentgen, V.; Kallinich, T.; Laxer, R.; Russo, R.; Toplak, N.; Uziel, Y.; Martini, A.; Ruperto, N.; Gattorno, M.; Hofer, M.
An Update on Familial Mediterranean Fever
2023-01-01 Lancieri, M.; Bustaffa, M.; Palmeri, S.; Prigione, I.; Penco, F.; Papa, R.; Volpi, S.; Caorsi, R.; Gattorno, M.
Anakinra: An emerging option for refractory idiopathic recurrent pericarditis: A systematic review of published evidence
2016-01-01 Lazaros, G.; Imazio, M.; Brucato, A.; Vassilopoulos, D.; Vasileiou, P.; Gattorno, M.; Tousoulis, D.; Martini, A.
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
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling
2023-01-01 Hirschenberger, M.; Lepelley, A.; Rupp, U.; Klute, S.; Hunszinger, V.; Koepke, L.; Merold, V.; Didry-Barca, B.; Wondany, F.; Bergner, T.; Moreau, T.; Rodero, M. P.; Rosler, R.; Wiese, S.; Volpi, S.; Gattorno, M.; Papa, R.; Lynch, S. -A.; Haug, M. G.; Houge, G.; Wigby, K. M.; Sprague, J.; Lenberg, J.; Read, C.; Walther, P.; Michaelis, J.; Kirchhoff, F.; de Oliveira Mann, C. C.; Crow, Y. J.; Sparrer, K. M. J.
Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): An open-label, phase II study
2017-01-01 Gattorno, M.; Obici, L.; Cattalini, M.; Tormey, V.; Abrams, K.; Davis, N.; Speziale, A.; Bhansali, S. G.; Martini, A.; Lachmann, H. J.
Cardiovascular Manifestations in Multisystem Inflammatory Syndrome in Children (MIS-C) Associated with COVID-19 According to Age
2022-01-01 Campanello, Claudia; Mercuri, Claudia; Derchi, Maria; Trocchio, Gianluca; Consolaro, Alessandro; Caorsi, Roberta; Ravelli, Angelo; Rimini, Alessandro; Marasini, Maurizio; Gattorno, Marco
Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency
2022-01-01 Drago, E.; Garbarino, F.; Signa, S.; Grossi, A.; Schena, F.; Penco, F.; Santori, E.; Candotti, F.; Boztug, K.; Volpi, S.; Gattorno, M.; Caorsi, R.
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A child with a novel ACAN missense variant mimicking a septic arthritis | 1-gen-2019 | Florio, Angelo; Papa, R.; Caorsi, R.; Consolaro, A.; Gastaldi, R.; Gattorno, M.; Picco, P. | |
| A circulating reservoir of pathogenic-like CD4+ T cells shares a genetic and phenotypic signature with the inflamed synovial micro-environment | 1-gen-2016 | Spreafico, R.; Rossetti, M.; Van Loosdregt, J.; Wallace, C. A.; Massa, M.; Magni-Manzoni, S.; Gattorno, M.; Martini, A.; Lovell, D. J.; Albani, S. | |
| 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 Method for Therapeutic Drug Monitoring of Baricitinib in Plasma of Pediatric Patients | 1-gen-2023 | Cafaro, Alessia; Baiardi, Giammarco; Pigliasco, Federica; Barco, Sebastiano; Mattioli, Francesca; Volpi, Stefano; Caorsi, Roberta; Gattorno, Marco; Cangemi, Giuliana | |
| 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 web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry | 1-gen-2017 | Papa, R.; Doglio, M.; Lachmann, H. J.; Ozen, S.; Frenkel, J.; Simon, A.; Neven, B.; Kuemmerle-Deschner, J.; Ozgodan, H.; Caorsi, R.; Federici, S.; Finetti, M.; Trachana, M.; Brunner, J.; Bezrodnik, L.; Pinedo Gago, M. C.; Maggio, M. C.; Tsitsami, E.; Al Suwairi, W.; Espada, G.; Shcherbina, Anna; Aksu, G.; Ruperto, N.; Martini, A.; Ceccherini, I.; Gattorno, M. | |
| Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation | 1-gen-2021 | Papa, R.; Penco, F.; Volpi, S.; Gattorno, M. | |
| ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study | 1-gen-2017 | Caorsi, Roberta; Penco, Federica; Grossi, Alice; Insalaco, Antonella; Omenetti, Alessia; Alessio, Maria; Conti, Giovanni; Marchetti, Federico; Picco, Paolo; Tommasini, Alberto; Martino, Silvana; Malattia, Clara; Gallizi, Romina; Podda, Rosa Anna; Salis, Annalisa; Falcini, Fernanda; Schena, Francesca; Garbarino, Francesca; Morreale, Alessia; Pardeo, Manuela; Ventrici, Claudia; Passarelli, Chiara; Zhou, Qing; Severino, Mariasavina; Gandolfo, Carlo; Damonte, Gianluca; Martini, Alberto; Ravelli, Angelo; Aksentijevich, Ivona; Ceccherini, Isabella; Gattorno, Marco | |
| 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 | |
| An international delphi survey for the definition of new classification criteria for familial mediterranean fever, mevalonate kinase deficiency, TNF receptor-associated periodic fever syndromes, and cryopyrin-associated periodic syndrome | 1-gen-2019 | Federici, S.; Vanoni, F.; Ben-Chetrit, E.; Cantarini, L.; Frenkel, J.; Goldbach-Mansky, R.; Gul, A.; Hoffman, H.; Kone-Paut, I.; Kuemmerle-Deschner, J.; Lachmann, H. J.; Martini, A.; Obici, L.; Ozen, S.; Simon, A.; Hofer, M.; Gattorno, M. | |
| An international delphi survey for the definition of the variables for the development of new classification criteria for periodic fever aphtous stomatitis pharingitis cervical adenitis (PFAPA) | 1-gen-2018 | Vanoni, F.; Federici, S.; Anton, J.; Barron, K. S.; Brogan, P.; De Benedetti, F.; Dedeoglu, F.; Demirkaya, E.; Hentgen, V.; Kallinich, T.; Laxer, R.; Russo, R.; Toplak, N.; Uziel, Y.; Martini, A.; Ruperto, N.; Gattorno, M.; Hofer, M. | |
| An Update on Familial Mediterranean Fever | 1-gen-2023 | Lancieri, M.; Bustaffa, M.; Palmeri, S.; Prigione, I.; Penco, F.; Papa, R.; Volpi, S.; Caorsi, R.; Gattorno, M. | |
| Anakinra: An emerging option for refractory idiopathic recurrent pericarditis: A systematic review of published evidence | 1-gen-2016 | Lazaros, G.; Imazio, M.; Brucato, A.; Vassilopoulos, D.; Vasileiou, P.; Gattorno, M.; Tousoulis, D.; Martini, A. | |
| 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 | |
| ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling | 1-gen-2023 | Hirschenberger, M.; Lepelley, A.; Rupp, U.; Klute, S.; Hunszinger, V.; Koepke, L.; Merold, V.; Didry-Barca, B.; Wondany, F.; Bergner, T.; Moreau, T.; Rodero, M. P.; Rosler, R.; Wiese, S.; Volpi, S.; Gattorno, M.; Papa, R.; Lynch, S. -A.; Haug, M. G.; Houge, G.; Wigby, K. M.; Sprague, J.; Lenberg, J.; Read, C.; Walther, P.; Michaelis, J.; Kirchhoff, F.; de Oliveira Mann, C. C.; Crow, Y. J.; Sparrer, K. M. J. | |
| Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): An open-label, phase II study | 1-gen-2017 | Gattorno, M.; Obici, L.; Cattalini, M.; Tormey, V.; Abrams, K.; Davis, N.; Speziale, A.; Bhansali, S. G.; Martini, A.; Lachmann, H. J. | |
| Cardiovascular Manifestations in Multisystem Inflammatory Syndrome in Children (MIS-C) Associated with COVID-19 According to Age | 1-gen-2022 | Campanello, Claudia; Mercuri, Claudia; Derchi, Maria; Trocchio, Gianluca; Consolaro, Alessandro; Caorsi, Roberta; Ravelli, Angelo; Rimini, Alessandro; Marasini, Maurizio; Gattorno, Marco | |
| Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency | 1-gen-2022 | Drago, E.; Garbarino, F.; Signa, S.; Grossi, A.; Schena, F.; Penco, F.; Santori, E.; Candotti, F.; Boztug, K.; Volpi, S.; Gattorno, M.; Caorsi, R. | |
| 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 |