Search Results - "PERNIOLA, Roberto"

Twenty Years of AIRE by Perniola, Roberto

“…About two decades ago, cloning of the autoimmune regulator ( ) gene materialized one of the most important actors on the scene of self-tolerance. Thymic…”
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Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence by Perniola, Roberto, Fierabracci, Alessandra, Falorni, Alberto

“…The autoimmune polyglandular syndrome type 1 (APS1) is caused by pathogenic variants of the autoimmune regulator ( ) gene, located in the chromosomal region…”
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Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral Tolerance by Perniola, Roberto

“…The autoimmune polyendocrine syndrome type 1 (APS-1) is a monogenic disease due to pathogenic variants occurring in the autoimmune regulator (AIRE) gene. Its…”
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Autoantibody responses in autoimmune ovarian insufficiency and in Addison's disease are IgG1 dominated and suggest a predominant, but not exclusive, Th1 type of response by Brozzetti, Annalisa, Marzotti, Stefania, La Torre, Daria, Bacosi, Maria Luisa, Morelli, Silvia, Bini, Vittorio, Ambrosi, Bruno, Giordano, Roberta, Perniola, Roberto, De Bellis, Annamaria, Betterle, Corrado, Falorni, Alberto

“…ObjectiveSteroid-producing cell autoantibodies (SCAs) directed against 21-hydroxylase autoantibodies (21OHAbs), 17α-hydroxylase autoantibodies (17OHAb), and…”
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The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein by Perniola, Roberto, Musco, Giovanna

“…AIRE (for autoimmune regulator) is a multidomain protein that performs a fundamental function in the thymus and possibly in the secondary lymphoid organs: the…”
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Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines by Kisand, Kai, Bøe Wolff, Anette S, Podkrajsek, Katarina Trebusak, Tserel, Liina, Link, Maire, Kisand, Kalle V, Ersvaer, Elisabeth, Perheentupa, Jaakko, Erichsen, Martina Moter, Bratanic, Nina, Meloni, Antonella, Cetani, Filomena, Perniola, Roberto, Ergun-Longmire, Berrin, Maclaren, Noel, Krohn, Kai J E, Pura, Mikulás, Schalke, Berthold, Ströbel, Philipp, Leite, Maria Isabel, Battelino, Tadej, Husebye, Eystein S, Peterson, Pärt, Willcox, Nick, Meager, Anthony

“…Chronic mucocutaneous candidiasis (CMC) is frequently associated with T cell immunodeficiencies. Specifically, the proinflammatory IL-17A-producing Th17 subset…”
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Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral Tolerance by Perniola, Roberto

“…The autoimmune polyendocrine syndrome type 1 (APS-1) is a monogenic disease due to pathogenic variants occurring in the autoimmune regulator (AIRE) gene. Its…”
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Lung recruitment before surfactant administration in extremely preterm neonates with respiratory distress syndrome (IN-REC-SUR-E): a randomised, unblinded, controlled trial by Vento, Giovanni, Ventura, Maria Luisa, Pastorino, Roberta, van Kaam, Anton H, Carnielli, Virgilio, Cools, Filip, Dani, Carlo, Mosca, Fabio, Polglase, Graeme, Tagliabue, Paolo, Boni, Luca, Cota, Francesco, Tana, Milena, Tirone, Chiara, Aurilia, Claudia, Lio, Alessandra, Costa, Simonetta, D'Andrea, Vito, Lucente, Mariella, Nigro, Gabriella, Giordano, Lucio, Roma, Vincenzina, Villani, Paolo E, Fusco, Francesca P, Fasolato, Valeria, Colnaghi, Maria Rosa, Matassa, Piero G, Vendettuoli, Valentina, Poggi, Chiara, Del Vecchio, Antonio, Petrillo, Flavia, Betta, Pasqua, Mattia, Carmine, Garani, Giampaolo, Solinas, Agostina, Gitto, Eloisa, Salvo, Vincenzo, Gargano, Giancarlo, Balestri, Eleonora, Sandri, Fabrizio, Mescoli, Giovanna, Martinelli, Stefano, Ilardi, Laura, Ciarmoli, Elena, Di Fabio, Sandra, Maranella, Eugenia, Grassia, Carolina, Ausanio, Gaetano, Rossi, Vincenzo, Motta, Angela, Tina, Lucia G, Maiolo, Kim, Nobile, Stefano, Messner, Hubert, Staffler, Alex, Ferrero, Federica, Stasi, Ilaria, Pieragostini, Luisa, Mondello, Isabella, Haass, Cristina, Consigli, Chiara, Vedovato, Stefania, Grison, Alessandra, Maffei, Gianfranco, Presta, Giuseppe, Perniola, Roberto, Vitaliti, Marcello, Re, Maria P, De Curtis, Mario, Cardilli, Viviana, Lago, Paola, Tormena, Francesca, Orfeo, Luigi, Gizzi, Camilla, Massenzi, Luca, Gazzolo, Diego, Strozzi, Maria Chiara M, Bottino, Roberto, Pontiggia, Federica, Berardi, Alberto, Guidotti, Isotta, Cacace, Caterina, Meli, Valerio, Quartulli, Lorenzo, Scorrano, Antonio, Casati, Alessandra, Grappone, Lidia, Pillow, J Jane

“…The importance of lung recruitment before surfactant administration has been shown in animal studies. Well designed trials in preterm infants are absent. We…”
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Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I by Meloni, Antonella, Furcas, Maria, Cetani, Filomena, Marcocci, Claudio, Falorni, Alberto, Perniola, Roberto, Pura, Mikuláš, Bøe Wolff, Anette S., Husebye, Eystein S., Lilic, Desa, Ryan, Kelli R., Gennery, Andrew R., Cant, Andrew J., Abinun, Mario, Spickett, Gavin P., Arkwright, Peter D., Denning, David, Costigan, Colm, Dominguez, Maria, McConnell, Vivienne, Willcox, Nick, Meager, Anthony

“…Context: In autoimmune polyendocrinopathy syndrome type I (APS-I), mutations in the autoimmune regulator gene (AIRE) impair thymic self-tolerance induction in…”
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Autoantibody Response Against NALP5/MATER in Primary Ovarian Insufficiency and in Autoimmune Addison's Disease by Brozzetti, Annalisa, Alimohammadi, Mohammad, Morelli, Silvia, Minarelli, Viviana, Hallgren, Åsa, Giordano, Roberta, De Bellis, Annamaria, Perniola, Roberto, Kämpe, Olle, Falorni, Alberto

“…Context: NACHT leucine-rich-repeat protein 5 (NALP5)/maternal antigen that embryo requires (MATER) is an autoantigen in hypoparathyroidism associated with…”
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From Genetic Predisposition to Molecular Mechanisms of Autoimmune Primary Adrenal Insufficiency by Falorni, Alberto, Brozzetti, Annalisa, Perniola, Roberto

“…Autoimmune Addison's disease (AAD) is a complex disease that results from the interaction of a predisposing genetic background with still unknown environmental…”
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High prevalence of thyroid autoimmunity in Apulian patients with autoimmune polyglandular syndrome type 1 by Perniola, Roberto, Filograna, Ornella, Greco, Gabriele, Pellegrino, Vincenzo

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Efficacy of a new technique - INtubate-RECruit-SURfactant-Extubate - "IN-REC-SUR-E" - in preterm neonates with respiratory distress syndrome: study protocol for a randomized controlled trial by Vento, Giovanni, Pastorino, Roberta, Boni, Luca, Cota, Francesco, Carnielli, Virgilio, Cools, Filip, Dani, Carlo, Mosca, Fabio, Pillow, Jane, Polglase, Graeme, Tagliabue, Paolo, van Kaam, Anton H, Ventura, Maria Luisa, Tana, Milena, Tirone, Chiara, Aurilia, Claudia, Lio, Alessandra, Ricci, Cinzia, Gambacorta, Alessandro, Consigli, Chiara, D'Onofrio, Danila, Gizzi, Camilla, Massenzi, Luca, Cardilli, Viviana, Casati, Alessandra, Bottino, Roberto, Pontiggia, Federica, Ciarmoli, Elena, Martinelli, Stefano, Ilardi, Laura, Colnaghi, Mariarosa, Matassa, Piero Giuseppe, Vendettuoli, Valentina, Villani, Paolo, Fusco, Francesca, Gazzolo, Diego, Ricotti, Alberto, Ferrero, Federica, Stasi, Ilaria, Magaldi, Rosario, Maffei, Gianfranco, Presta, Giuseppe, Perniola, Roberto, Messina, Francesco, Montesano, Giovanna, Poggi, Chiara, Giordano, Lucio, Roma, Enza, Grassia, Carolina, Ausanio, Gaetano, Sandri, Fabrizio, Mescoli, Giovanna, Giura, Francesco, Garani, Giampaolo, Solinas, Agostina, Lucente, Maria, Nigro, Gabriella, Del Vecchio, Antonello, Petrillo, Flavia, Orfeo, Luigi, Grappone, Lidia, Quartulli, Lorenzo, Scorrano, Antonio, Messner, Hubert, Staffler, Alex, Gargano, Giancarlo, Balestri, Eleonora, Nobile, Stefano, Cacace, Caterina, Meli, Valerio, Dallaglio, Sara, Pasqua, Betta, Mattia, Loretta, Gitto, Eloisa, Vitaliti, Marcello, Re, Maria Paola, Vedovato, Stefania, Grison, Alessandra, Berardi, Alberto, Torcetta, Francesco, Guidotti, Isotta, di Fabio, Sandra, Maranella, Eugenia, Mondello, Isabella, Visentin, Stefano, Tormena, Francesca

“…Although beneficial in clinical practice, the INtubate-SURfactant-Extubate (IN-SUR-E) method is not successful in all preterm neonates with respiratory…”
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Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy by Meloni, Alessandra, Perniola, Roberto, Faà, Valeria, Corvaglia, Enrico, Cao, Antonio, Rosatelli, Maria Cristina

“…In this study, we have carried out molecular analysis of the AIRE (autoimmune regulator) gene in 11 patients (from 8 families) affected by autoimmune…”
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Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy by MELONI, Alessandra, PERNIOLA, Roberto, FAA, Valeria, CORVAGLIA, Enrico, CAO, Antonio, ROSATELLI, Maria Cristina

“…In this study, we have carried out molecular analysis of the AIRE (autoimmune regulator) gene in 11 patients (from 8 families) affected by autoimmune…”
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Autoantibody responses in autoimmune ovarian insufficiency and in Addison's disease are IgG 1 dominated and suggest a predominant, but not exclusive, Th1 type of response by BROZZETTI, Annalisa, MARZOTTI, Stefania, BETTERLE, Corrado, FALORNI, Alberto, LA TORRE, Daria, BACOSI, Maria Luisa, MORELLI, Silvia, BINI, Vittorio, AMBROSI, Bruno, GIORDANO, Roberta, PERNIOLA, Roberto, DE BELLIS, Annamaria

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Mapping of Human Autoantibody Epitopes on Aromatic l-Amino Acid Decarboxylase by Candeloro, Paola, Voltattorni, Carla Borri, Perniola, Roberto, Bertoldi, Mariarita, Betterle, Corrado, Mannelli, Massimo, Giordano, Roberta, De Bellis, Annamaria, Tiberti, Claudio, Laureti, Stefano, Santeusanio, Fausto, Falorni, Alberto

“…Context: Aromatic l-amino acid decarboxylase (AADC) is target of autoantibodies in autoimmune polyendocrine syndrome I (APS I), especially in patients with…”
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Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) by Perniola, R, Falorni, A, Clemente, MG, Forini, F, Accogli, E, Lobreglio, G

“…OBJECTIVE: The aim of the study was to assess the complex of autoantibodies which can be detected in patients with autoimmune…”
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Immunophenotypic characterisation of peripheral blood lymphocytes in autoimmune polyglandular syndrome type 1: clinical study and review of the literature by Perniola, Roberto, Lobreglio, Giambattista, Rosatelli, Maria Cristina, Pitotti, Elena, Accogli, Elisa, De Rinaldis, Corrado

“…Autoimmune endocrinopathies are characterised by an increased number of peripheral blood lymphocytes (PBL) expressing activation/ memory markers on their…”
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Assessment of enamel hypoplasia in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) by Perniola, Roberto, Tamborrino, Giuseppe, Marsigliante, Santo, De Rinaldis, Corrado

“…The features of enamel hypoplasia in a small group of patients with autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) are described…”
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