96 results on '"Montin, Davide"'
Search Results
2. Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)
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Rossini, Linda, Ricci, Silvia, Montin, Davide, Azzari, Chiara, Gambineri, Eleonora, Tellini, Marco, Conti, Francesca, Pession, Andrea, Saettini, Francesco, Naviglio, Samuele, Valencic, Erica, Magnolato, Andrea, Baselli, Lucia, Azzolini, Sara, Consolini, Rita, Leonardi, Lucia, D’Alba, Irene, Carraro, Elisa, Romano, Roberta, Melis, Daniela, Stagi, Stefano, Cirillo, Emilia, Giardino, Giuliana, Biffi, Alessandra, Pignata, Claudio, Putti, Maria Caterina, and Marzollo, Antonio
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- 2024
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3. Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency
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Migliavacca, Maddalena, Barzaghi, Federica, Fossati, Claudia, Rancoita, Paola M. V., Gabaldo, Michela, Dionisio, Francesca, Giannelli, Stefania, Salerio, Federica Andrea, Ferrua, Francesca, Tucci, Francesca, Calbi, Valeria, Gallo, Vera, Recupero, Salvatore, Consiglieri, Giulia, Pajno, Roberta, Sambuco, Maria, Priolo, Alessio, Ferri, Chiara, Garella, Vittoria, Monti, Ilaria, Silvani, Paolo, Darin, Silvia, Casiraghi, Miriam, Corti, Ambra, Zancan, Stefano, Levi, Margherita, Cesana, Daniela, Carlucci, Filippo, Pituch-Noworolska, Anna, AbdElaziz, Dalia, Baumann, Ulrich, Finocchi, Andrea, Cancrini, Caterina, Ladogana, Saverio, Meinhardt, Andrea, Meyts, Isabelle, Montin, Davide, Notarangelo, Lucia Dora, Porta, Fulvio, Pasquet, Marlène, Speckmann, Carsten, Stepensky, Polina, Tommasini, Alberto, Rabusin, Marco, Karakas, Zeynep, Galicchio, Miguel, Leonardi, Lucia, Duse, Marzia, Guner, Sukru Nail, Di Serio, Clelia, Ciceri, Fabio, Bernardo, Maria Ester, Aiuti, Alessandro, and Cicalese, Maria Pia
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- 2024
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4. The HyperPed-COVID international registry: Impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C
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Caorsi, Roberta, Consolaro, Alessandro, Speziani, Camilla, Sozeri, Betul, Ulu, Kadir, Faugier-Fuentes, Enrique, Menchaca-Aguayo, Hector, Ozen, Seza, Sener, Seher, Akhter Rahman, Shahana, Imnul Islam, Mohammad, Haerynck, Filomeen, Simonini, Gabriele, Mastri, Mariel Viviana, Avcin, Tadej, Sršen, Saša, de Albuquerque Pedrosa Fernandes, Taciana, Stanevicha, Valda, Vojinovic, Jelena, Sobh, Ali, Fingerhutova, Sarka, Minxova, Lenka, Gagro, Alenka, Rodrigues Fonseca, Adriana, Pandya, Devang, Varbanova, Boriana, Sánchez-Manubens, Judith, Ganeva, Margarita, Montin, Davide, Boyarchuk, Oksana, Minghini, Andrea, Bracaglia, Claudia, Brogan, Paul, Candotti, Fabio, Cattalini, Marco, Meyts, Isabelle, Minoia, Francesca, Taddio, Andrea, Wouters, Carine, De Benedetti, Fabrizio, Bovis, Francesca, Ravelli, Angelo, Ruperto, Nicolino, Gattorno, Marco, Bilginer, Yelda, Laila, Kamrul, Islam, Mohammed Mahbubul, Meertens, Bram, Hoste, Levi, Dehoorne, Joke, Schelstraete, Petra, Vandekerckhove, Kristof, Willems, Jef, Matthijs, Inge, Filocamo e Gisella Beatrice Beretta, Giovanni, Magalhaes, Claudia Saad, Chubata, Oksana, Ricci, Francesca, Vukovic, Antonija, Temelkova, Katya, Avramovic, Mojca Zajc, Emersic, Nina, Bizjak, Masa, Vesel, Tina, Rodrigues, Marta Felix, Gasparello de Almeida, Rozana, Lukjanovica, Kristine, Elnagdy, Marwa H., Soliman, Ahmed, Terifajova, Eva, Brejchova, Ivana, Magner, Martin, Myrup, Charlotte, Vougiouka, Olga, Jelusic, Marija, La Torre, Francesco, Rigante, Donato, Maggio, Maria Cristina, Verdoni, Lucio, Rubio-Perez, Nadina, Cornejo, Gabriel Vega, Villarreal Trevino, Ana Victoria, Brito, Iva, Oliveira-Ramos, Filipa, Alexeeva, Ekaterina, Chasnyk, Vyacheslav, Arkachaisri, Thaschawee, Boyko, Yaryna, Vyzhga, Yulia, and Samsonenko, Svitlana
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- 2024
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5. Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job’s syndrome
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Carrabba, Maria, Dellepiane, Rosa Maria, Cortesi, Manuela, Baselli, Lucia Augusta, Soresina, Annarosa, Cirillo, Emilia, Giardino, Giuliana, Conti, Francesca, Dotta, Laura, Finocchi, Andrea, Cancrini, Caterina, Milito, Cinzia, Pacillo, Lucia, Cinicola, Bianca Laura, Cossu, Fausto, Consolini, Rita, Montin, Davide, Quinti, Isabella, Pession, Andrea, Fabio, Giovanna, Pignata, Claudio, Pietrogrande, Maria Cristina, and Badolato, Raffaele
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- 2023
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6. Vaccinations in Children and Adolescents Treated With Immune-Modifying Biologics: Update and Current Developments
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Martire, Baldassarre, Ottaviano, Giorgio, Sangerardi, Maria, Sgrulletti, Mayla, Chini, Loredana, Dellepiane, Rosa Maria, Montin, Davide, Rizzo, Caterina, Pignata, Claudio, Marseglia, Gian Luigi, and Moschese, Viviana
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- 2022
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7. Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network
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Cirillo, Emilia, Polizzi, Agata, Soresina, Annarosa, Prencipe, Rosaria, Giardino, Giuliana, Cancrini, Caterina, Finocchi, Andrea, Rivalta, Beatrice, Dellepiane, Rosa M., Baselli, Lucia A., Montin, Davide, Trizzino, Antonino, Consolini, Rita, Azzari, Chiara, Ricci, Silvia, Lodi, Lorenzo, Quinti, Isabella, Milito, Cinzia, Leonardi, Lucia, Duse, Marzia, Carrabba, Maria, Fabio, Giovanna, Bertolini, Patrizia, Coccia, Paola, D’Alba, Irene, Pession, Andrea, Conti, Francesca, Zecca, Marco, Lunardi, Claudio, Bianco, Manuela Lo, Presti, Santiago, Sciuto, Laura, Micheli, Roberto, Bruzzese, Dario, Lougaris, Vassilios, Badolato, Raffaele, Plebani, Alessandro, Chessa, Luciana, and Pignata, Claudio
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- 2022
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8. Prevalence of familial autoimmune diseases in juvenile idiopathic arthritis: results from the international Pharmachild registry
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van Straalen, Joeri W., de Roock, Sytze, Giancane, Gabriella, Alexeeva, Ekaterina, Koskova, Elena, Mesa-del-Castillo Bermejo, Pablo, Zulian, Francesco, Civino, Adele, Montin, Davide, Wulffraat, Nico M., Ruperto, Nicolino, and Swart, Joost F.
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- 2022
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9. Towards personalized vaccines.
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Montin, Davide, Santilli, Veronica, Beni, Alessandra, Costagliola, Giorgio, Martire, Baldassarre, Mastrototaro, Maria Felicia, Ottaviano, Giorgio, Rizzo, Caterina, Sgrulletti, Mayla, Del Giudice, Michele Miraglia, and Moschese, Viviana
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VACCINE effectiveness ,TRANSCRIPTOMES ,INDIVIDUALIZED medicine ,VACCINE development ,IMMUNIZATION - Abstract
The emergence of vaccinomics and system vaccinology represents a transformative shift in immunization strategies, advocating for personalized vaccines tailored to individual genetic and immunological profiles. Integrating insights from genomics, transcriptomics, proteomics, and immunology, personalized vaccines offer the promise of enhanced efficacy and safety, revolutionizing the field of vaccinology. However, the development of personalized vaccines presents multifaceted challenges, including technical, ethical, economic, and regulatory considerations. Addressing these challenges is essential to ensure equitable access and safety of personalized vaccination strategies. Despite these hurdles, the potential of personalized vaccines to optimize responses and mitigate disease burden underscores the significance of ongoing research and collaboration in advancing precision medicine in immunization. [ABSTRACT FROM AUTHOR]
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- 2024
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10. MicroRNA dysregulation in ataxia telangiectasia.
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Cirillo, Emilia, Tarallo, Antonietta, Toriello, Elisabetta, Carissimo, Annamaria, Giardino, Giuliana, De Rosa, Antonio, Damiano, Carla, Soresina, Annarosa, Badolato, Raffaele, Dellepiane, Rosa Maria, Baselli, Lucia A., Carrabba, Maria, Fabio, Giovanna, Bertolini, Patrizia, Montin, Davide, Conti, Francesca, Romano, Roberta, Pozzi, Elisa, Ferrero, Giulio, and Roncarati, Roberta
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GENE expression ,MONONUCLEAR leukocytes ,ATAXIA telangiectasia ,DNA repair ,BLOOD testing - Abstract
Introduction: Ataxia telangiectasia (AT) is a rare disorder characterized by neurodegeneration, combined immunodeficiency, a predisposition to malignancies, and high clinical variability. Profiling of microRNAs (miRNAs) may offer insights into the underlying mechanisms of complex rare human diseases, as miRNAs play a role in various biological functions including proliferation, differentiation, and DNA repair. In this study, we investigate the differential expression of miRNAs in samples from AT patients to identify miRNA patterns and analyze how these patterns are related to the disease. Methods: We enrolled 20 AT patients (mean age 17.7 ± 9.6 years old) and collected clinical and genetic data. We performed short non-coding RNA-seq analysis on peripheral blood mononuclear cells (PBMCs) and fibroblasts to compare the miRNA expression profile between AT patients and controls. Results: We observed 42 differentially expressed (DE)-miRNAs in blood samples and 26 in fibroblast samples. Among these, three DE-miRNAs, miR-342-3p, miR30a-5p, and miR-195-5p, were further validated in additional AT samples, confirming their dysregulation. Discussion: We identified an AT-related miRNA signature in blood cells and fibroblast samples collected from a group of AT patients. We also predicted several dysregulated pathways, primarily related to cancer, immune system control, or inflammatory processes. The findings suggest that miRNAs may provide insights into the pathophysiology and tumorigenesis of AT and have the potential to serve as useful biomarkers in cancer research. [ABSTRACT FROM AUTHOR]
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- 2024
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11. Vaccines and allergy: Back to the right places.
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Moschese, Viviana, Montin, Davide, Ottaviano, Giorgio, Sgrulletti, Mayla, Beni, Alessandra, Costagliola, Giorgio, Sangerardi, Maria, Santilli, Veronica, Miraglia Del Giudice, Michele, Rizzo, Caterina, and Martire, Baldassarre
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VACCINATION of children , *ANAPHYLAXIS , *MEDICAL personnel , *VACCINATION , *ALLERGIES - Abstract
Hypersensitivity reactions represent one of the most common causes of hesitancy for adherence to national vaccination programs. The majority of hypersensitivity reactions after vaccination are mild, and anaphylaxis is reported to be rare, although it remains challenging to estimate the frequency attributed to each single vaccine, either because of the lower number of administered doses of less common vaccines, or the administration of simultaneous vaccine in most of the vaccination programs. Although literature remains scattered, international consensus guides clinicians in identifying patients who might need the administration of vaccines in protected environments due to demonstrated hypersensitivity to vaccine components or adjuvants. Here we provide the current guidance on hypersensitivity reactions to vaccines and on vaccination of children with allergy disorders. [ABSTRACT FROM AUTHOR]
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- 2024
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12. Altered NK-cell compartment and dysfunctional NKG2D/NKG2D-ligand axis in patients with ataxia-telangiectasia
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Desimio, Maria Giovanna, Finocchi, Andrea, Di Matteo, Gigliola, Di Cesare, Silvia, Giancotta, Carmela, Conti, Francesca, Chessa, Luciana, Piane, Maria, Montin, Davide, Dellepiane, Marta, Rossi, Paolo, Cancrini, Caterina, and Doria, Margherita
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- 2021
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13. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality
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Lougaris, Vassilios, Soresina, Annarosa, Baronio, Manuela, Montin, Davide, Martino, Silvana, Signa, Sara, Volpi, Stefano, Zecca, Marco, Marinoni, Maddalena, Baselli, Lucia Augusta, Dellepiane, Rosa Maria, Carrabba, Maria, Fabio, Giovanna, Putti, Maria Caterina, Cinetto, Francesco, Lunardi, Claudio, Gazzurelli, Luisa, Benvenuto, Alessio, Bertolini, Patrizia, Conti, Francesca, Consolini, Rita, Ricci, Silvia, Azzari, Chiara, Leonardi, Lucia, Duse, Marzia, Pulvirenti, Federica, Milito, Cinzia, Quinti, Isabella, Cancrini, Caterina, Finocchi, Andrea, Moschese, Viviana, Cirillo, Emilia, Crescenzi, Ludovica, Spadaro, Giuseppe, Marasco, Carolina, Vacca, Angelo, Cardinale, Fabio, Martire, Baldassare, Trizzino, Antonino, Licciardello, Maria, Cossu, Fausto, Di Matteo, Gigliola, Badolato, Raffaele, Ferrari, Simona, Giliani, Silvia, Pession, Andrea, Ugazio, Alberto, Pignata, Claudio, and Plebani, Alessandro
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- 2020
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14. Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
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Saettini, Francesco, Herriot, Richard, Prada, Elisabetta, Nizon, Mathilde, Zama, Daniele, Marzollo, Antonio, Romaniouk, Igor, Lougaris, Vassilios, Cortesi, Manuela, Morreale, Alessia, Kosaki, Rika, Cardinale, Fabio, Ricci, Silvia, Domínguez-Garrido, Elena, Montin, Davide, Vincent, Marie, Milani, Donatella, Biondi, Andrea, Gervasini, Cristina, and Badolato, Raffaele
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- 2020
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15. Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome
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Montin, Davide, Marolda, Agostina, Licciardi, Francesco, Robasto, Francesca, Di Cesare, Silvia, Ricotti, Emanuela, Ferro, Francesca, Scaioli, Giacomo, Giancotta, Carmela, Amodio, Donato, Conti, Francesca, Giardino, Giuliana, Leonardi, Lucia, Ricci, Silvia, Volpi, Stefano, Baselli, Lucia Augusta, Azzari, Chiara, Bossi, Grazia, Consolini, Rita, Dellepiane, Rosa Maria, Duse, Marzia, Gattorno, Marco, Martire, Baldassarre, Putti, Maria Caterina, Soresina, Annarosa, Plebani, Alessandro, Ramenghi, Ugo, Martino, Silvana, Pignata, Claudio, and Cancrini, Caterina
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- 2019
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16. Pediatric Presentation of Antiphospholipid Syndrome: A Review of Recent Literature With Estimation of Local Prevalence.
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Radin, Massimo, Cecchi, Irene, Arbrile, Marta, Montin, Davide, Farinasso, Loredana, Cioffi, Michele, Foddai, Silvia Grazietta, Barinotti, Alice, Menegatti, Elisa, Baldovino, Simone, Sciascia, Savino, and Roccatello, Dario
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ANTIPHOSPHOLIPID syndrome ,LITERATURE reviews ,COMORBIDITY ,SYSTEMIC lupus erythematosus ,VENOUS thrombosis ,CHILD patients - Abstract
We aimed to investigate the epidemiology, the clinical and laboratory characteristics of the pediatric involvement of antiphospholipid syndrome (APS), by performing a review of the current evidence and reviewing local experience in the Northwest Italy. To achieve this, we performed a detailed literature search to identify articles describing clinical and laboratory characteristics of pediatric APS. In concomitance, we conducted a registry-based study collecting data from the Piedmont and Aosta Valley Rare Disease Registry including pediatric patients diagnosed with APS in the last 11 years. The literature review led to inclusion of six articles with a total of 386 pediatric patients (65% females, 50% with systemic lupus erythematosus (SLE) as concomitant diagnosis). Rates of venous and arterial thrombosis were 57 and 35%, respectively. "Extra-criteria manifestations" included mostly hematologic and neurologic involvement. Almost one-quarter of patients (19%) reported recurrent events and 13% manifested as catastrophic APS. A total of 17 pediatric patients (mean age 15.1 ± 2.8, 76% female) developed APS in the Northwest of Italy. In 29% of cases, SLE was a concomitant diagnosis. Deep vein thrombosis was the most frequent manifestation (28%) followed by catastrophic APS (6%). The estimated prevalence of pediatric APS in Piedmont and Aosta Valley Region is 2.5/100,000 people, whereas the estimated annual incidence is 0.2/100,000 inhabitants. In conclusion, clinical manifestations of pediatric APS seem to be more severe and with a high prevalence of noncriteria manifestations. International efforts are needed to better characterize this condition and to develop new specific diagnostic criteria to avoid missed/delayed diagnosis in children with APS. [ABSTRACT FROM AUTHOR]
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- 2024
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17. Epidemiologic Impact of the New Guidelines for the Diagnosis of Acute Rheumatic Fever
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Licciardi, Francesco, Scaioli, Giacomo, Mulatero, Roberta, Marolda, Agostina, Delle Piane, Marta, Martino, Silvana, Montin, Davide, and Tovo, Pier Angelo
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- 2018
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18. Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactoferrin Counteracts This Effect
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Di Comite, Amelia, Borghesi, Alessandro, Tzialla, Chryssoula, Agriesti, Giovanni, Arisio, Riccardo, Franco, Caterina, Guardione, Roberta, Boano, Elena, Catarinella, Alessia, Romano, Cristina, Monetti, Cesare, Sala, Ugo, Carbonara, Caterina, Mastretta, Emmanuele, Del Sordo, Paola, Priolo, Claudio, Galletto, Paolo, Campagnoli, Francesca, Vivalda, Mauro, Bonfante, Giuseppina, Gomirato, Giovanna, Montin, Davide, Camilla, Roberta, Messina, Alessandro, Pieretto, Marta, Cipolla, Domenico, Giuffrè, Mario, Corsello, Giovanni, Natale, Fabio, Vetrano, Gennaro, Tridapalli, Elisabetta, Faldella, Giacomo, Grazia Capretti, Maria, Paolillo, PierMichele, Picone, Simonetta, Lacerenza, Serafina, Gargano, Giancarlo, Magnani, Cristiana, Sergio Saia, Onofrio, Della Casa, Elena, Manzoni, Paolo, García Sánchez, Ruben, Meyer, Michael, Stolfi, Ilaria, Pugni, Lorenza, Messner, Hubert, Cattani, Silvia, Betta, Pasqua Maria, Memo, Luigi, Decembrino, Lidia, Bollani, Lina, Rinaldi, Matteo, Fioretti, Maria, Quercia, Michele, Maule, Milena, Tavella, Elena, Mussa, Alessandro, Laforgia, Nicola, Mosca, Fabio, Magaldi, Rosario, Mostert, Michael, and Farina, Daniele
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- 2018
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19. Early anakinra treatment improves cardiac outcome of multisystem inflammatory syndrome in children, regardless of disease severity.
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Taddio, Andrea, Paolera, Sara Della, Abbagnato, Luisa, Agrusti, Anna, Badolato, Raffaele, Biscaro, Francesca, Caorsi, Roberta, Consolaro, Alessandro, Dellepiane, Rosa Maria, Fabi, Marianna, Floretta, Ilenia, Gattorno, Marco, Giangreco, Manuela, Torre, Francesco La, Maggio, Maria Cristina, Mambelli, Lorenzo, Mauro, Angela, Mastrolia, Maria Vincenza, Meneghel, Alessandra, and Montin, Davide
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PREVENTION of heart diseases ,RESEARCH ,METHYLPREDNISOLONE ,STATISTICS ,MULTISYSTEM inflammatory syndrome ,BIOLOGICAL products ,CONFIDENCE intervals ,HEART ,INTERLEUKIN-1 ,ACQUISITION of data ,RETROSPECTIVE studies ,ANTIRHEUMATIC agents ,SEVERITY of illness index ,TREATMENT effectiveness ,INTRAVENOUS immunoglobulins ,TREATMENT failure ,MEDICAL records ,DESCRIPTIVE statistics ,RESEARCH funding ,DEATH ,ODDS ratio ,EARLY medical intervention ,LONGITUDINAL method ,PATIENT safety ,CHEMICAL inhibitors ,EVALUATION ,CHILDREN - Abstract
Objective The main aim of this study was to define the best treatment option for multisystem inflammatory syndrome in children (MIS-C) and to analyse the role of anakinra. Methods This is a multicentre retrospective cohort study. Patients were treated according to the attending physician's decision. The patients were divided into four groups on the basis of the first treatment at time of admittance: (i) IVIG, (ii) IVIG and methylprednisolone (≤2 mg/kg/day), (iii) IVIG with high-dose methylprednisolone (>2 mg/kg/day) and (iv) anakinra with or without IVIG and/or methylprednisolone. Primary outcomes were defined as the presence of at least one of the following features: death, the failure of initial treatment, meaning the need for additional treatment for clinical worsening and cardiac involvement at the end of follow-up. Results Two hundred thirty-nine patients were recruited. At univariate analysis, persistent heart involvement at discharge was more frequent in those not receiving anakinra as initial treatment (3/21 vs 66/189; P = 0.047). After comparisons between the four treatment regimens, adjusting for the propensity score, we observed that early treatment with anakinra was associated with a lower probability of developing persistent heart disease at the end of follow-up (odds ratio: 0.6; 95% CI: 0.4–1.0). Conclusion We report that early treatment with anakinra is safe and very effective in patients with severe MIS-C. In addition, our study suggests that early treatment with anakinra is the most favourable option for patients with a higher risk of developing a severe disease outcome. [ABSTRACT FROM AUTHOR]
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- 2024
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20. Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
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Gazzin, Andrea, Pala, Francesca, Bosticardo, Marita, Niemela, Julie, Stoddard, Jennifer, Biasin, Eleonora, Quarello, Paola, Carli, Diana, Ferroni, Francesca, Delmonte, Ottavia M., Montin, Davide, Rosenzweig, Sergio D., Licciardi, Francesco, and Notarangelo, Luigi D.
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LITERATURE reviews ,CARDIAC magnetic resonance imaging ,INTESTINAL lymphangiectasia ,LYMPHOPENIA ,NEPHROBLASTOMA ,INTRAVENOUS immunoglobulins - Abstract
Introduction: Mulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an increased risk of Wilms' tumor. Although immune system impairment has been documented inMUL, the underlying mechanisms remain poorly understood. Methods: We present a case of MUL with progressive lymphopenia and review similar cases from the literature. Results: Our patient presented with prenatal onset growth restriction, characteristic dysmorphic features, and Wilms' tumor. She developed progressive lymphopenia starting at 10 years of age, leading to the initiation of intravenous immunoglobulin (IVIG) replacement therapy and infection prophylaxis. Genetic analysis detected a likely pathogenic variant on the maternal allele and copy number loss on the paternal allele in TRIM37. Subsequently a cardiac magnetic resonance imaging was conducted revealing signs of pericardial constriction raising concerns for intestinal lymphatic losses. The cessation of IVIG therapy did not coincide with any increase in the rate of infections. The patient exhibited a distinct immunological profile, characterized by hypogammaglobulinemia, impaired antibody responses, and skewed T-cell subsets with an altered CD4+/CD8+ ratio, consistent with previous reports. Normal thymocyte development assessed by artificial thymic organoid platform ruled out an early hematopoietic intrinsic defect of T-cell development. Discussion: The immunological profile of MUL patients reported so far shares similarities with that described in protein-losing enteropathy secondary to CHF in Fontan circulation and primary intestinal lymphangiectasia. These similarities include hypogammaglobulinemia, significant T-cell deficiency with decreased CD4+ and CD8+ counts, altered CD4+/CD8+ ratios, and significantly modified CD4+ and CD8 + T-cell phenotypes toward effector and terminal differentiated T cells, accompanied by a loss of naïve CD45RA+ T lymphocytes. In MUL, CHF is a cardinal feature, occurring in a significant proportion of patients and influencing prognosis. Signs of CHF or constrictive pericarditis have been evident in the case reported here and in all cases of MUL with documented immune dysfunction reported so far. These observations raise intriguing connections between these conditions. However, further investigation is warranted to in-depth define the immunological defect, providing valuable insights into the pathophysiology and treatment strategies for this condition. [ABSTRACT FROM AUTHOR]
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- 2023
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21. Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies
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Cristina Cifaldi, Immacolata Brigida, Federica Barzaghi, Matteo Zoccolillo, Valentina Ferradini, Davide Petricone, Maria Pia Cicalese, Dejan Lazarevic, Davide Cittaro, Maryam Omrani, Enrico Attardi, Francesca Conti, Alessia Scarselli, Maria Chiriaco, Silvia Di Cesare, Francesco Licciardi, Montin Davide, Francesca Ferrua, Clementina Canessa, Claudio Pignata, Silvia Giliani, Simona Ferrari, Georgia Fousteri, Graziano Barera, Pietro Merli, Paolo Palma, Simone Cesaro, Marco Gattorno, Antonio Trizzino, Viviana Moschese, Loredana Chini, Anna Villa, Chiara Azzari, Andrea Finocchi, Franco Locatelli, Paolo Rossi, Federica Sangiuolo, Alessandro Aiuti, Caterina Cancrini, and Gigliola Di Matteo
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primary immunodeficiencies ,Next Generation Sequencing ,gene panels ,Ion Torrent ,Haloplex ,Immunologic diseases. Allergy ,RC581-607 - Published
- 2019
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22. Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies
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Cristina Cifaldi, Immacolata Brigida, Federica Barzaghi, Matteo Zoccolillo, Valentina Ferradini, Davide Petricone, Maria Pia Cicalese, Dejan Lazarevic, Davide Cittaro, Maryam Omrani, Enrico Attardi, Francesca Conti, Alessia Scarselli, Maria Chiriaco, Silvia Di Cesare, Francesco Licciardi, Montin Davide, Francesca Ferrua, Clementina Canessa, Claudio Pignata, Silvia Giliani, Simona Ferrari, Georgia Fousteri, Graziano Barera, Pietro Merli, Paolo Palma, Simone Cesaro, Marco Gattorno, Antonio Trizzino, Viviana Moschese, Loredana Chini, Anna Villa, Chiara Azzari, Andrea Finocchi, Franco Locatelli, Paolo Rossi, Federica Sangiuolo, Alessandro Aiuti, Caterina Cancrini, and Gigliola Di Matteo
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primary immunodeficiencies ,Next Generation Sequencing ,gene panels ,Ion Torrent ,Haloplex ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders.Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes.Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology.Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage.Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successfully applied for a robust diagnostic suspicion, while when the spectrum of clinical phenotypes overlaps more than one PID an in-depth NGS analysis is required, including also whole exome/genome sequencing to identify the causative gene.
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- 2019
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23. Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis
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Meazza, Raffaella, Tuberosa, Claudia, Cetica, Valentina, Falco, Michela, Parolini, Silvia, Grieve, Sam, Griffiths, Gillian M., Sieni, Elena, Marcenaro, Stefania, Micalizzi, Concetta, Montin, Davide, Fagioli, Franca, Moretta, Alessandro, Mingari, Maria C., Moretta, Lorenzo, Notarangelo, Luigi D., Bottino, Cristina, Aricò, Maurizio, and Pende, Daniela
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- 2014
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24. B-cell development and functions and therapeutic options in adenosine deaminase–deficient patients
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Brigida, Immacolata, Sauer, Aisha V., Ferrua, Francesca, Giannelli, Stefania, Scaramuzza, Samantha, Pistoia, Valentina, Castiello, Maria Carmina, Barendregt, Barbara H., Cicalese, Maria Pia, Casiraghi, Miriam, Brombin, Chiara, Puck, Jennifer, Müller, Klaus, Notarangelo, Lucia Dora, Montin, Davide, van Montfrans, Joris M., Roncarolo, Maria Grazia, Traggiai, Elisabetta, van Dongen, Jacques J.M., van der Burg, Mirjam, and Aiuti, Alessandro
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- 2014
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25. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study
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Barzaghi, Federica, Amaya Hernandez, Laura Cristina, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J., Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R., Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M., Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frédéric, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H., Kobayashi, Ichiro, Alonso, Laura, De Heredia, Cristina Diaz, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G., Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Richmond Padilla, Erick J., Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G., Kałwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C., Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J., Roncarolo, Maria-Grazia, and Bacchetta, Rosa
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- 2018
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26. Development of a Low-Cost Stem-Loop Real-Time Quantification PCR Technique for EBV miRNA Expression Analysis
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Bergallo, Massimiliano, Merlino, Chiara, Montin, Davide, Galliano, Ilaria, Gambarino, Stefano, Mareschi, Katia, Fagioli, Franca, Montanari, Paola, Martino, Silvana, and Tovo, Pier-Angelo
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- 2016
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27. Canakinumab in systemic juvenile idiopathic arthritis: real-world data from a retrospective Italian cohort.
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Matteis, Arianna De, Bracaglia, Claudia, Marafon, Denise Pires, Piscitelli, Anna Lucia, Alessio, Maria, Naddei, Roberta, Orlando, Francesca, Filocamo, Giovanni, Minoia, Francesca, Ravelli, Angelo, Tibaldi, Jessica, Cimaz, Rolando, Marino, Achille, Simonini, Gabriele, Mastrolia, Maria Vincenza, Torre, Francesco La, Tricarico, Ilaria, Licciardi, Francesco, Montin, Davide, and Maggio, Maria Cristina
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THERAPEUTIC use of monoclonal antibodies ,RESEARCH ,GLUCOCORTICOIDS ,STATISTICS ,MACROPHAGE activation syndrome ,CONFIDENCE intervals ,MULTIVARIATE analysis ,JUVENILE idiopathic arthritis ,RETROSPECTIVE studies ,ODDS ratio - Abstract
Objective The objective of this study was to use real-world data to evaluate the effectiveness and safety of canakinumab in Italian patients with systemic JIA (sJIA). Methods A retrospective multicentre study of children with sJIA was performed. Clinical features, laboratory parameters and adverse events were collected at baseline, and 6 and 12 months after starting canakinumab. The primary outcome measure of effectiveness was clinically inactive disease (CID) off glucocorticoids (GCs) treatment at 6 months. Results A total of 80 children from 15 Italian centres were analysed. Of the 12 patients who started canakinumab in CID while receiving anakinra, all maintained CID. Of the 68 with active disease at baseline, 57.4% achieved CID off GCs at 6 months and 63.8% at 12 months. In univariate analysis, the variables significantly related to non-response were number of active joints (NAJs) ≥5, history of macrophage activation syndrome (MAS) and disease duration. Multivariate analysis confirmed the association between non-response and NAJs ≥5 [odds ratio (OR) 6.37 (95% CI: 1.69, 24.02), P = 0.006] and between non-response and history of MAS [OR 3.53 (95% CI: 1.06, 11.70), P = 0.039]. No serious adverse events were recorded in this series. There were two cases of MAS during canakinumab, leading to a rate of 2.9 episodes per 100 patient years. Conclusion We have confirmed, using real-world data, the efficacy of canakinumab in sJIA in a multicentric cohort. History of MAS and higher NAJ were associated with lower probability of achieving CID. [ABSTRACT FROM AUTHOR]
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- 2022
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28. Discordance between Clinical and Ultrasound Examinations in Juvenile Idiopathic Arthritis: An Experimental Approach.
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Licciardi, Francesco, Petraz, Marco, Covizzi, Carlotta, Santarelli, Francesca, Cirone, Carlotta, Mulatero, Roberta, Robasto, Francesca, Dellepiane, Marta, Martino, Silvana, Montin, Davide, and Ravagnani, Viviana
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PHYSICAL diagnosis ,STATISTICS ,SYNOVITIS ,CONFIDENCE intervals ,JUVENILE idiopathic arthritis ,MANN Whitney U Test ,INTER-observer reliability ,CHI-squared test ,DATA analysis software - Abstract
Clinical examination (CE) and musculoskeletal ultrasound (MSUS) of ten joints (knee, ankle, wrist, elbow, II-MCP) and their extra-articular (EA) compartments (tendons and bursae) were performed on 35 consecutive patients with active juvenile idiopathic arthritis (JIA) (active group) to test how the extension of MSUS examinations to EA changes the concordance between MSUS and CE. The overall concordance between CE and MSUS, measured with Cohen's Kappa (k), was moderate (k = 0.43); the addition of EA MSUS increased the concordance in all joints, with the exclusion of II-MCP (k = 0.49). In the ankle and wrist, the k increase was relevant (k from 0.13 to 0.27 and 0.11 to 0.41). In the active group patients, we observed 44 subclinical synovitis; the number of subclinical synovitis per patient was correlated with JADAS-27 (p = 0.03) and was higher in a control group composed of 15 patients with persistent disease remission (1.3 vs. 0.4 p = 0.03). Our results show that EA compartments should always be evaluated during MSUS. Furthermore, we demonstrate a moderate concordance between CE and MSUS in JIA; the finding of subclinical synovitis is common in patients with active diseases and is related to disease activity. [ABSTRACT FROM AUTHOR]
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- 2022
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29. Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome
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Cancrini, Caterina, Puliafito, Pamela, Digilio, Maria Cristina, Soresina, Annarosa, Martino, Silvana, Rondelli, Roberto, Consolini, Rita, Ruga, Ezia Maria, Cardinale, Fabio, Finocchi, Andrea, Romiti, Maria Luisa, Martire, Baldassarre, Bacchetta, Rosa, Albano, Veronica, Carotti, Adriano, Specchia, Fernando, Montin, Davide, Cirillo, Emilia, Cocchi, Guido, Trizzino, Antonino, Bossi, Grazia, Milanesi, Ornella, Azzari, Chiara, Corsello, Giovanni, Pignata, Claudio, Aiuti, Alessandro, Pietrogrande, Maria Cristina, Marino, Bruno, Ugazio, Alberto Giovanni, Plebani, Alessandro, and Rossi, Paolo
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- 2014
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30. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias
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Chen, Rui, Giliani, Silvia, Lanzi, Gaetana, Mias, George I., Lonardi, Silvia, Dobbs, Kerry, Manis, John, Im, Hogune, Gallagher, Jennifer E., Phanstiel, Douglas H., Euskirchen, Ghia, Lacroute, Philippe, Bettinger, Keith, Moratto, Daniele, Weinacht, Katja, Montin, Davide, Gallo, Eleonora, Mangili, Giovanna, Porta, Fulvio, Notarangelo, Lucia D., Pedretti, Stefania, Al-Herz, Waleed, Alfahdli, Wasmi, Comeau, Anne Marie, Traister, Russell S., Pai, Sung-Yun, Carella, Graziella, Facchetti, Fabio, Nadeau, Kari C., Snyder, Michael, and Notarangelo, Luigi D.
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- 2013
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31. Premature Senescence and Increased Oxidative Stress in the Thymus of Down Syndrome Patients.
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Marcovecchio, Genni Enza, Ferrua, Francesca, Fontana, Elena, Beretta, Stefano, Genua, Marco, Bortolomai, Ileana, Conti, Anastasia, Montin, Davide, Cascarano, Maria Teresa, Bergante, Sonia, D'Oria, Veronica, Giamberti, Alessandro, Amodio, Donato, Cancrini, Caterina, Carotti, Adriano, Di Micco, Raffaella, Merelli, Ivan, Bosticardo, Marita, and Villa, Anna
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PEOPLE with Down syndrome ,CELLULAR aging ,OXIDATIVE stress ,THYMUS ,IMMUNOSENESCENCE - Abstract
Down syndrome (DS) patients prematurely show clinical manifestations usually associated with aging. Their immune system declines earlier than healthy individuals, leading to increased susceptibility to infections and higher incidence of autoimmune phenomena. Clinical features of accelerated aging indicate that trisomy 21 increases the biological age of tissues. Based on previous studies suggesting immune senescence in DS, we hypothesized that induction of cellular senescence may contribute to early thymic involution and immune dysregulation. Immunohistochemical analysis of thymic tissue showed signs of accelerated thymic aging in DS patients, normally seen in older healthy subjects. Moreover, our whole transcriptomic analysis on human Epcam-enriched thymic epithelial cells (hTEC), isolated from three DS children, which revealed disease-specific transcriptomic alterations. Gene set enrichment analysis (GSEA) of DS TEC revealed an enrichment in genes involved in cellular response to stress, epigenetic histone DNA modifications and senescence. Analysis of senescent markers and oxidative stress in hTEC and thymocytes confirmed these findings. We detected senescence features in DS TEC, thymocytes and peripheral T cells, such as increased β-galactosidase activity, increased levels of the cell cycle inhibitor p16, telomere length and integrity markers and increased levels of reactive oxygen species (ROS), all factors contributing to cellular damage. In conclusion, our findings support the key role of cellular senescence in the pathogenesis of immune defect in DS while adding new players, such as epigenetic regulation and increased oxidative stress, to the pathogenesis of immune dysregulation. [ABSTRACT FROM AUTHOR]
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- 2021
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32. Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
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Magg, Thomas, Okano, Tsubasa, Koenig, Lars M., Boehmer, Daniel F.R., Schwartz, Samantha L., Inoue, Kento, Heimall, Jennifer, Licciardi, Francesco, Ley-Zaporozhan, Julia, Ferdman, Ronald M., Caballero-Oteyza, Andrés, Park, Esther N., Calderon, Brenda M., Dey, Debayan, Kanegane, Hirokazu, Cho, Kazutoshi, Montin, Davide, Reiter, Karl, Griese, Matthias, and Albert, Michael H.
- Abstract
Mutated OAS1 leads to immunodeficiency: Inborn errors of immunity can result in autoinflammatory immunodeficiencies. Type I interferon–inducible oligoadenylate synthetase 1 (OAS1) can initiate antiviral immune responses and is linked to pulmonary alveolar proteinosis with hypogammaglobulinemia. Here, Magg et al. identified four heterozygous OAS1 gain-of-function mutations that cause a polymorphic immunodeficiency in six patients. The OAS1 mutants induced functional and transcriptomic alterations in monocytes, B cells, and T cells, which related to RNase L–dependent cellular dysfunction, apoptosis, protein translation arrest, and cellular RNA degradation. These deficiencies correlated to the altered structure of the OAS1 mutants. Some of these OAS1 gain-of-function patients were cured by hematopoietic stem cell transplantation, suggesting that these immune defects directly contributed to the disease phenotypes. These data give further insight into a rare autoinflammatory immunodeficiency. Analysis of autoinflammatory and immunodeficiency disorders elucidates human immunity and fosters the development of targeted therapies. Oligoadenylate synthetase 1 is a type I interferon–induced, intracellular double-stranded RNA (dsRNA) sensor that generates 2′-5′-oligoadenylate to activate ribonuclease L (RNase L) as a means of antiviral defense. We identified four de novo heterozygous OAS1 gain-of-function variants in six patients with a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinemia. To establish causality, we applied genetic, molecular dynamics simulation, biochemical, and cellular functional analyses in heterologous, autologous, and inducible pluripotent stem cell–derived macrophages and/or monocytes and B cells. We found that upon interferon-induced expression, OAS1 variant proteins displayed dsRNA-independent activity, which resulted in RNase L–mediated RNA cleavage, transcriptomic alteration, translational arrest, and dysfunction and apoptosis of monocytes, macrophages, and B cells. RNase L inhibition with curcumin modulated and allogeneic hematopoietic cell transplantation cured the disorder. Together, these data suggest that human OAS1 is a regulator of interferon-induced hyperinflammatory monocyte, macrophage, and B cell pathophysiology. [ABSTRACT FROM AUTHOR]
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- 2021
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33. Peculiar immunophenotypic signature in MIS‐C‐affected children.
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Licciardi, Francesco, Baldini, Letizia, Denina, Marco, Ricotti, Emanuela, Covizzi, Carlotta, Dellepiane, Marta, Mignone, Federica, Zoppo, Marisa, Felici, Enrico, Montin, Davide, and Kalaycı, Ömer
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COVID-19 ,COVID-19 treatment ,AGAMMAGLOBULINEMIA - Abstract
Between April and July 2020, we performed peripheral B lymphocyte immunophenotype in five patients with positive specific IgG against SARS-CoV2, who satisfied WHO preliminary case definition criteria for MIS-C,1 and compared them with eight children affected by COVID-19 and 15 age-matched healthy donors (HD). Immunophenotype studies in COVID-19 patients have demonstrated a peculiar B-cell response with increased plasmablast (PB) frequency.4 Interestingly, the increase in PB is not associated with an augmentation in spike protein-specific IgG titer. Since April 2020, an increasing number of authors have reported a new clinical syndrome related to SARS-COV2 infection in children, characterized by rapidly progressive systemic inflammation with multi-organ dysfunction. [Extracted from the article]
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- 2021
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34. Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey.
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Cattalini, Marco, Della Paolera, Sara, Zunica, Fiammetta, Bracaglia, Claudia, Giangreco, Manuela, Verdoni, Lucio, Meini, Antonella, Sottile, Rita, Caorsi, Roberta, Zuccotti, Gianvincenzo, Fabi, Marianna, Montin, Davide, Meneghel, Alessandra, Consolaro, Alessandro, Dellepiane, Rosa Maria, Maggio, Maria Cristina, La Torre, Francesco, Marchesi, Alessandra, Simonini, Gabriele, and Villani, Alberto
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SARS-CoV-2 ,FISHER exact test ,CHI-squared test ,ASPIRIN ,COVID-19 ,MULTISYSTEM inflammatory syndrome in children ,MUCOCUTANEOUS lymph node syndrome - Abstract
Background: There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome-temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining whether KD and PIMS are two distinct entities. Methods: The Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD (Kawasaki Disease Group – KDG) or KD-like (Kawacovid Group - KCG) disease between February 1st 2020, and May 31st 2020. Demographic, clinical, laboratory data, treatment information, and patients' outcome were collected in an online anonymized database (RedCAP®). Relationship between clinical presentation and SARS-CoV-2 infection was also taken into account. Moreover, clinical characteristics of KDG during SARS-CoV-2 epidemic (KDG-CoV2) were compared to Kawasaki Disease patients (KDG-Historical) seen in three different Italian tertiary pediatric hospitals (Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste; AOU Meyer, Florence; IRCCS Istituto Giannina Gaslini, Genoa) from January 1st 2000 to December 31st 2019. Chi square test or exact Fisher test and non-parametric Wilcoxon Mann-Whitney test were used to study differences between two groups. Results: One-hundred-forty-nine cases were enrolled, (96 KDG and 53 KCG). KCG children were significantly older and presented more frequently from gastrointestinal and respiratory involvement. Cardiac involvement was more common in KCG, with 60,4% of patients with myocarditis. 37,8% of patients among KCG presented hypotension/non-cardiogenic shock. Coronary artery abnormalities (CAA) were more common in the KDG. The risk of ICU admission were higher in KCG. Lymphopenia, higher CRP levels, elevated ferritin and troponin-T characterized KCG. KDG received more frequently immunoglobulins (IVIG) and acetylsalicylic acid (ASA) (81,3% vs 66%; p = 0.04 and 71,9% vs 43,4%; p = 0.001 respectively) as KCG more often received glucocorticoids (56,6% vs 14,6%; p < 0.0001). SARS-CoV-2 assay more often resulted positive in KCG than in KDG (75,5% vs 20%; p < 0.0001). Short-term follow data showed minor complications. Comparing KDG with a KD-Historical Italian cohort (598 patients), no statistical difference was found in terms of clinical manifestations and laboratory data. Conclusion: Our study suggests that SARS-CoV-2 infection might determine two distinct inflammatory diseases in children: KD and PIMS-TS. Older age at onset and clinical peculiarities like the occurrence of myocarditis characterize this multi-inflammatory syndrome. Our patients had an optimal response to treatments and a good outcome, with few complications and no deaths. [ABSTRACT FROM AUTHOR]
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- 2021
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35. Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.
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Carli, Diana, Moroni, Alice, Eleonora, Di Gregorio, Zonta, Andrea, Montin, Davide, Licciardi, Francesco, Aidala, Enrico, Bordese, Roberto, Carlo, Pace Napoleone, Brusco, Alfredo, Giovanni Battista, Ferrero, and Mussa, Alessandro
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TETRALOGY of Fallot ,22Q11 deletion syndrome ,CONGENITAL heart disease ,CHILD patients ,HEART abnormalities ,GENES - Abstract
The 22q11.2 microdeletion syndrome (22q11.2 DGS) is characterized by an extreme intrafamilial and interfamilial variability. The main clinical features are congenital heart defects, palatal abnormalities, learning disability, facial dysmorphisms and immune deficiency. In 85–90% of cases, the 22q11.2 DGS is caused by a heterozygous ~3-Mb deletion, including the TBX1 gene, considered one of the major genes responsible for heart defects. Individuals with atypical deletions with at least one breakpoint outside low copy repeats have been reported. Our patient is a child presenting tetralogy of Fallot (TOF) with an atypical 22q11.2 deletion proximal to the critical DiGeorge region. The rearrangement was inherited from the healthy mother and spanned ~642–970 kb, encompassing DGCR6 and PRODH, two novel possible candidate genes for conotruncal heart defects. [ABSTRACT FROM AUTHOR]
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- 2021
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36. Novel artful applications of vaccines at the horizon.
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Montin, Davide, Ottaviano, Giorgio, Sangerardi, Maria, Sgrulletti, Mayla, Chini, Loredana, Dellepiane, Rosa Maria, Martire, Baldassarre, Rizzo, Caterina, Moschese, Viviana, and Marseglia, Gian Luigi
- Subjects
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ORAL vaccines , *VACCINES , *POLIOMYELITIS vaccines , *MEASLES vaccines , *VACCINE hesitancy - Abstract
Some live vaccines, particularly Bacillus Calmette‐Guérin (BCG), oral polio vaccine (OPV), and measles vaccine, can reduce the incidence of all‐cause mortality by outreaching the mere control of specific infections and exerting off‐target effects. Asides from the prevention of viral infection, some other vaccines, such as those against flu or rotavirus, could reduce the risk of developing autoimmunity. The nonspecific effects of vaccines are mediated by the innate immune system, mainly through the so‐called trained innate immunity. These observations paved the way for developing tolerogenic and trained immunity‐based vaccines with substantial implications for more effective use of vaccines and combat vaccine hesitancy. [ABSTRACT FROM AUTHOR]
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- 2022
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37. Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity.
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Cirillo, Emilia, Giardino, Giuliana, Ricci, Silvia, Moschese, Viviana, Lougaris, Vassilios, Conti, Francesca, Azzari, Chiara, Barzaghi, Federica, Canessa, Clementina, Martire, Baldassarre, Badolato, Raffaele, Dotta, Laura, Soresina, Annarosa, Cancrini, Caterina, Finocchi, Andrea, Montin, Davide, Romano, Roberta, Amodio, Donato, Ferrua, Francesca, and Tommasini, Alberto
- Abstract
Medical advances have dramatically improved the long-term prognosis of children and adolescents with inborn errors of immunity (IEIs). Transfer of the medical care of individuals with pediatric IEIs to adult facilities is also a complex task because of the large number of distinct disorders, which requires involvement of patients and both pediatric and adult care providers. To date, there is no consensus on the optimal pathway of the transitional care process and no specific data are available in the literature regarding patients with IEIs. We aimed to develop a consensus statement on the transition process to adult health care services for patients with IEIs. Physicians from major Italian Primary Immunodeficiency Network centers formulated and answered questions after examining the currently published literature on the transition from childhood to adulthood. The authors voted on each recommendation. The most frequent IEIs sharing common main clinical problems requiring full attention during the transitional phase were categorized into different groups of clinically related disorders. For each group of clinically related disorders, physicians from major Italian Primary Immunodeficiency Network institutions focused on selected clinical issues representing the clinical hallmark during early adulthood. [ABSTRACT FROM AUTHOR]
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- 2020
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38. Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network.
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Gaggiano, Carla, Vitale, Antonio, Obici, Laura, Merlini, Giampaolo, Soriano, Alessandra, Viapiana, Ombretta, Cattalini, Marco, Maggio, Maria Cristina, Lopalco, Giuseppe, Montin, Davide, Jaber, Masen Abdel, Dagna, Lorenzo, Manna, Raffaele, Insalaco, Antonella, Piga, Matteo, La Torre, Francesco, Berlengiero, Virginia, Gelardi, Viviana, Ciarcia, Luisa, and Emmi, Giacomo
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TUMOR necrosis factors ,AGE of onset ,ABDOMINAL pain ,SYNDROMES ,AGE groups ,ANTI-NMDA receptor encephalitis - Abstract
This study explores demographic, clinical, and therapeutic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a cohort of 80 patients recruited from 19 Italian referral Centers. Patients' data were collected retrospectively and then analyzed according to age groups (disease onset before or after 16 years) and genotype (high penetrance (HP) and low penetrance (LP) TNFRSF1A gene variants). Pediatric- and adult-onset were reported, respectively, in 44 and 36 patients; HP and LP variants were found, respectively, in 32 and 44 cases. A positive family history for recurrent fever was reported more frequently in the pediatric group than in the adult group (p < 0.05). With reference to clinical features during attacks, pericarditis and myalgia were reported more frequently in the context of adult-onset disease than in the pediatric age (with p < 0.01 and p < 0.05 , respectively), while abdominal pain was present in 84% of children and in 25% of adults (p < 0.01). Abdominal pain was significantly associated also to the presence of HP mutations (p < 0.01), while oral aphthosis was more frequently found in the LP variant group (p < 0.05). Systemic amyloidosis occurred in 25% of subjects carrying HP variants. As concerns laboratory features, HP mutations were significantly associated to higher ESR values (p < 0.01) and to the persistence of steadily elevated inflammatory markers during asymptomatic periods (p < 0.05). The presence of mutations involving a cysteine residue, abdominal pain, and lymphadenopathy during flares significantly correlated with the risk of developing amyloidosis and renal impairment. Conversely, the administration of colchicine negatively correlated to the development of pathologic proteinuria (p < 0.05). Both NSAIDs and colchicine were used as monotherapy more frequently in the LP group compared to the HP group (p < 0.01). Biologic agents were prescribed to 49 (61%) patients; R92Q subjects were more frequently on NSAIDs monotherapy than other patients (p < 0.01); nevertheless, they required biologic therapy in 53.1% of cases. At disease onset, the latest classification criteria for TRAPS were fulfilled by 64/80 (80%) patients (clinical plus genetic items) and 46/80 (57.5%) patients (clinical items only). No statistically significant differences were found in the sensitivity of the classification criteria according to age at onset and according to genotype (p < 0.05). This study describes one of the widest cohorts of TRAPS patients in the literature, suggesting that the clinical expression of this syndrome is more influenced by the penetrance of the mutation rather than by the age at onset itself. Given the high phenotypic heterogeneity of the disease, a definite diagnosis should rely on both accurate working clinical assessment and complementary genotype. [ABSTRACT FROM AUTHOR]
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- 2020
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39. SARS-CoV-2--Induced Kawasaki-Like Hyperinflammatory Syndrome: A Novel COVID Phenotype in Children.
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Licciardi, Francesco, Pruccoli, Giulia, Denina, Marco, Parodi, Emilia, Taglietto, Manuela, Rosati, Sergio, and Montin, Davide
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- 2020
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40. Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network.
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Vitale, Antonio, Sota, Jurgen, Obici, Laura, Ricco, Nicola, Maggio, Maria Cristina, Cattalini, Marco, Ruscitti, Piero, Caso, Francesco, Manna, Raffaele, Viapiana, Ombretta, Caggiano, Valeria, Emmi, Giacomo, Insalaco, Antonella, Montin, Davide, Licciardi, Francesco, Soriano, Alessandra, Dagna, Lorenzo, Salvarani, Carlo, Lamacchia, Vittoria, and Hernández-Rodríguez, José
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TUMOR necrosis factor receptors ,TUMOR treatment ,COLCHICINE - Abstract
Objective. To analyze the potential role of colchicine monotherapy in patients with tumor necrosis factor receptor associated periodic syndrome (TRAPS) in terms of control of clinical and laboratory manifestations. Methods. Patients with TRAPS treated with colchicine monotherapy were retrospectively enrolled; demographic, clinical and therapeutic data were collected and statistically analysed after having clustered patients according to different times at disease onset, penetrance of mutations, dosage of colchicine, and different disease manifestations. Results. 24 patients (14 males; 15 with pediatric disease onset) treated with colchicine monotherapy were enrolled. Colchicine resulted in a complete response in 3 (12.5%) cases, partial response in 14 (58.3%) patients, and lack of response in 7 (29.2%) patients. There were not significant differences in colchicine response between pediatric and adult disease onset (p = 0.42), between low- and high-penetrance mutations (p = 0.62), and according to different dosages (p = 0.66). No significant differences were identified in the frequency of specific disease manifestations between patients experiencing any response to colchicine and patients with lack of response. Conclusions. Colchicine monotherapy is useful in a low percentage of TRAPS patients; nevertheless, it could be attempted in patients with milder phenotypes and at a lower risk of developing reactive amyloidosis. [ABSTRACT FROM AUTHOR]
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- 2020
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41. NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations.
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Carli, Diana, Giorgio, Elisa, Pantaleoni, Francesca, Bruselles, Alessandro, Barresi, Sabina, Riberi, Evelise, Licciardi, Francesco, Gazzin, Andrea, Baldassarre, Giuseppina, Pizzi, Simone, Niceta, Marcello, Radio, Francesca C., Molinatto, Cristina, Montin, Davide, Calvo, Pier L., Ciolfi, Andrea, Fleischer, Nicole, Ferrero, Giovanni B., Brusco, Alfredo, and Tartaglia, Marco
- Abstract
The pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) are associated with a clinical spectrum involving the hepatic, skeletal, ocular, and immune systems. Here, we report on two unrelated subjects with a complex phenotype solved by whole‐exome sequencing, who shared a synonymous change in NBAS that was documented to affect the transcript processing and co‐occurring with a truncating change. Starting from these two cases, we systematically assessed the clinical information available for all subjects with biallelic NBAS pathogenic variants (73 cases in total). We revealed a recognizable facial profile (hypotelorism, thin lips, pointed chin, and "progeroid" appearance) determined by using DeepGestalt facial recognition technology, and we provide evidence for the occurrence of genotype–phenotype correlations. Notably, severe hepatic involvement was associated with variants affecting the NBAS‐Nter and Sec39 domains, whereas milder liver involvement and immunodeficiency were generally associated with variants located at the N‐terminus and C‐terminus of the protein. Remarkably, no patient was reported to carry two nonsense variants, suggesting lethality of complete NBAS loss‐of‐function. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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42. NeMO mutations: a rare cause of monogenic Behçet-like disease.
- Author
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Baldini, Letizia, Sabatino, Fabiana Di, Bodrero, Enrico, Dellepiane, Marta, Covizzi, Carlotta, Selva, Roberta La, Montin, Davide, and Licciardi, Francesco
- Subjects
GENETIC mutation ,ULCERS ,BEHCET'S disease ,TREATMENT effectiveness ,GENES ,RHEUMATOID arthritis ,TUMOR necrosis factors ,PREDNISONE ,COLCHICINE ,ADALIMUMAB ,MOUTH - Abstract
In the article, the authors present a case of a 4-year-old girl who was presented to a rheumatology clinic due to relapsing knee arthritis associated to episodic oral ulcers to discuss a rare cause of monogenic Behçet-like disease. Also cited are the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB), and NF-kB Essential MOdulator (NEMO).
- Published
- 2021
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43. All that glisters is not COVID: Low prevalence of seroconversion against SARS-CoV-2 in a pediatric cohort of patients with chilblain-like lesions.
- Author
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Denina, Marco, Pellegrino, Francesco, Morotti, Francesco, Coppo, Paola, Bonsignori, Ilaria Maria, Garazzino, Silvia, Ravanini, Paolo, Avolio, Maria, Cavallo, Rossana, Bertolotti, Luigi, Felici, Enrico, Acucella, Gabriela, Montin, Davide, Rabbone, Ivana, and Licciardi, Francesco
- Published
- 2020
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- View/download PDF
44. One step closer to influenza vaccine inclusiveness.
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Sgrulletti, Mayla, Ottaviano, Giorgio, Sangerardi, Maria, Chini, Loredana, Dellepiane, Rosa Maria, Martire, Baldassarre, Montin, Davide, Rizzo, Caterina, Moschese, Viviana, and Marseglia, Gian Luigi
- Subjects
INFLUENZA vaccines ,VIRUS diseases ,INFLUENZA viruses ,INFLUENZA ,ACUTE diseases ,CHRONIC diseases - Abstract
Flu virus infection is a common cause of acute respiratory illness, with the major incidence in pediatric age, high morbidity, and mortality. The flu vaccine is recommended for all people aged ≥6 months, unless specific contraindications are present. Younger and older age, pregnancy, chronic diseases like asthma, and immunodeficiency are risk factors for severe complications following flu infection. Thus, these categories represent the target for flu vaccine strategies in most countries. Inactivated influenza vaccine (IIV), recombinant influenza vaccine (RIV) or live‐attenuated influenza virus (LAIV) are currently available, with specific precautions and contraindications. We aim to resume the current indications for vaccines in the vulnerable populations to support flu vaccination inclusiveness, in anticipation of a "universal vaccine" strategy. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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- View/download PDF
45. Circulating Follicular Helper and Follicular Regulatory T Cells Are Severely Compromised in Human CD40 Deficiency: A Case Report.
- Author
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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, and Fousteri, Georgia
- Subjects
T cells ,CD40 antigen ,CYTIDINE deaminase - Abstract
Mutations in genes that control class switch recombination and somatic hypermutation during the germinal center (GC) response can cause diverse immune dysfunctions. In particular, mutations in CD40LG, CD40, AICDA , or UNG cause hyper-IgM (HIGM) syndrome, a heterogeneous group of primary immunodeficiencies. Follicular helper (Tfh) and follicular regulatory (Tfr) T cells play a key role in the formation and regulation of GCs, but their role in HIGM pathogenesis is still limited. Here, we found that compared to CD40 ligand (CD40L)- and activation-induced cytidine deaminase (AICDA)-deficient patients, circulating Tfh and Tfr cells were severely compromised in terms of frequency and activation phenotype in a child with CD40 deficiency. These findings offer useful insight for human Tfh biology, with potential implications for understanding the molecular basis of HIGM syndrome caused by mutations in CD40. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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46. Low synovial double negative T and γδ T cells predict longer free‐disease survival in oligoarticular JIA.
- Author
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Licciardi, Francesco, Ceci, Maria, Toppino, Claudia, Turco, Marco, Martino, Silvana, Ricotti, Emanuela, Ferro, Francesca, and Montin, Davide
- Published
- 2018
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47. Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients.
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Montin, Davide, Licciardi, Francesco, Giorgio, Elisa, Ciolfi, Andrea, Pizzi, Simone, Mussa, Alessandro, Meazza, Raffaella, Tartaglia, Marco, Brusco, Alfredo, Pende, Daniela, and Ferrero, Giovanni Battista
- Subjects
- *
B cells , *ANTIGEN presenting cells , *PLASMA cells , *CONNECTIVE tissue cells , *CELL proliferation - Published
- 2018
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48. Comparison of Two Available RNA Extraction Protocols for microRNA Amplification in Serum Samples.
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Bergallo, Massimiliano, Gambarino, Stefano, Martino, Silvana, Montin, Davide, Montanari, Paola, Galliano, Ilaria, Tovo, Pier‐Angelo, and Tovo, Pier-Angelo
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- 2016
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49. The Complex Surgical Management of the First Case of Severe Combined Immunodeficiency and Multiple Intestinal Atresias Surviving after the Fourth Year of Life.
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Guanà, Riccardo, Garofano, Salvatore, Teruzzi, Elisabetta, Vinardi, Simona, Carbonaro, Giulia, Cerrina, Alessia, Morra, Isabella, Montin, Davide, Mussa, Alessandro, and Schleef, Jürgen
- Subjects
SURGERY ,SEVERE combined immunodeficiency ,INTESTINAL atresia ,GASTROINTESTINAL diseases ,IMMUNE system ,T cells ,SURGICAL excision ,MANAGEMENT - Abstract
Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastrointestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prognosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meconium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion (c.313ΔTATC; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A). He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management. [ABSTRACT FROM AUTHOR]
- Published
- 2014
- Full Text
- View/download PDF
50. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016
- Author
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Lomakina, Olga, Alekseeva, Ekaterina, Valieva, Sania, Bzarova, Tatiana, Nikishina, Irina, Zholobova, Elena, Rodionovskaya, Svetlana, Kaleda, Maria, Nakagishi, Yasuo, Shimizu, Masaki, Mizuta, Mao, Yachie, Akihiro, Sugita, Yuko, Okamoto, Nami, Shabana, Kousuke, Murata, Takuji, Tamai, Hiroshi, Smith, Eve M., Yin, Peng, Jorgensen, Andrea L., Beresford, Michael W., Eleuteri, Antonio, Goilav, Beatrice, Lewandowski, Laura, Phuti, Angel, Wahezi, Dawn, Rubinstein, Tamar, Jones, Caroline, Newland, Paul, Marks, Stephen, Corkhill, Rachel, Ekdawy, Diana, Pilkington, Clarissa, Tullus, Kjell, Putterman, Chaim, Scott, Chris, Fisher, Antony C., Jorgensen, Andrea, Batu, Ezgi Deniz, Kosukcu, Can, Taskiran, Ekim, Akman, Sema, Ozturk, Kubra, Sozeri, Betul, Unsal, Erbil, Ekinci, Zelal, Bilginer, Yelda, Alikasifoglu, Mehmet, Ozen, Seza, Lythgoe, Hanna, Brunner, Hermine I., Gulati, Gaurav, Jones, Jordan T., Altaye, Mekibib, Eaton, Jamie, Difrancesco, Mark, Yeo, Joo Guan, Leong, Jingyao, Bathi, Loshinidevi D/O Thana, Arkachaisri, Thaschawee, Albani, Salvatore, Abdelrahman, Nagla, Beresford, Michael W, Leone, Valentina, Groot, Noortje, Shaikhani, D., Bultink, I. E. M., Bijl, M., Dolhain, R. J. E. M., Teng, Y. K. O., Zirkzee, E., de Leeuw, K., Fritsch-Stork, R., Kamphuis, S. S. M., Wright, Rachael D., Abdawani, Reem, Al Shaqshi, Laila, Al Zakwani, Ibrahim, Gormezano, Natali W., Kern, David, Pereira, Oriany L., Esteves, Gladys C. C., Sallum, Adriana M., Aikawa, Nadia E., Pereira, Rosa M., Silva, Clovis A., Bonfa, Eloisa, Beckmann, Jessica, Bartholomä, Nora, Venhoff, Nils, Henneke, Philipp, Salzer, Ulrich, Janda, Ales, Boteanu, Alina Lucica, Corral, Sandra Garrote, Giraldo, Alberto Sifuentes, Gámir, Mariluz Gámir, Mendoza, Antonio Zea, Adrovic, Amra, Dedeoglu, Reyhan, Sahin, Sezgin, Barut, Kenan, Koka, Aida, Oztunc, Funda, Kasapcopur, Ozgur, Rodriguez-Lozano, Ana Luisa, Rivas-Larrauri, Francisco, de la Puente, Silvestre García, Alves, Andressa G. F., Giacomin, Maria F. D. A., Farhat, Juliana, Braga, Alfésio L. F., Sallum, Adriana M. E., Campos, Lúcia M. D. A., Pereira, Luiz A. A., Lichtenfels, Ana J. D. F. C., Silva, Clóvis A., Farhat, Sylvia C. L., Acar, Banu, Ozcakar, Z. Birsin, Çakar, Nilgün, Uncu, Nermin, Gür, Gökçe, Özdel, Semanur, Yalçınkaya, Fatoş, Scott, Christiaan, Brice, Nicky, Nourse, Peter, Arango, Christine, Mosquera, Angela C., Malagon, Clara, Sakamoto, Ana P., Silva, Marco F. C. D., Lopes, Ananadreia S., Russo, Gleice C. S., Sallum, Adriana E. M., Kozu, Katia, Bonfá, Eloisa, Saad-Magalhães, Claudia, Pereira, Rosa M. R., Len, Claudio A., Terreri, Maria T., Suri, Deepti, Didel, Siyaram, Rawat, Amit, Singh, Surjit, Maritsi, Despoina, Onoufriou, MArgarita, Vougiouka, Olga, Tsolia, Maria, Bosak, Edi Paleka, Vidović, Mandica, Lamot, Mirta, Lamot, Lovro, Harjaček, Miroslav, Van Nieuwenhove, Erika, Liston, Adrian, Wouters, Carine, Tahghighi, Fatemeh, Ziaee, Vahid, Raeeskarami, Seid-Reza, Aguiar, Francisca, Pereira, Sandra, Rodrigues, Mariana, Moura, Cláudia, Rocha, Gustavo, Guimarães, Hercília, Brito, Iva, Fonseca, Rita, Horneff, Gerd, Klein, Ariane, Minden, Kirsten, Huppertz, Hans-Iko, Weller-Heinemann, Frank, Kuemmerle-Deschner, Jasmin, Haas, J-Peter, Hospach, Anton, Menendez-Castro, Ricardo, Huegle, Boris, Haas, Johannes-Peter, Swart, Joost, Giancane, Gabriella, Bovis, Francesca, Castagnola, Elio, Groll, Andreas, Lovell, Daniel J., Wolfs, Tom, Hofer, Michael, Panaviene, Violeta, Nielsen, Susan, Anton, Jordi, Uettwiller, Florence, Stanevicha, Valda, Trachana, Maria, Marafon, Denise Pires, Ailioaie, Constantin, Tsitsami, Elena, Kamphuis, Sylvia, Herlin, Troels, Doležalová, Pavla, Susic, Gordana, Flatø, Berit, Sztajnbok, Flavio, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Gattorno, Marco, Brucato, Antonio, Finetti, Martina, Lazaros, George, Maestroni, Silvia, Carraro, Mara, Cumetti, Davide, Carobbio, Alessandra, Lorini, Monia, Rimini, Alessandro, Marcolongo, Renzo, Valenti, Anna, Erre, Gian Luca, Belli, Riccardo, Gaita, Fiorenzo, Sormani, Maria Pia, Imazio, Massimo, Abinun, Mario, Smith, Nicola, Rapley, Tim, McErlane, Flora, Kearsley-Fleet, Lianne, Hyrich, Kimme L., Foster, Helen, Tzaribachev, Nikolay, Zeft, Andrew, Cimaz, Rolando, Bohnsack, John, Griffin, Thomas, Carrasco, Ruy, Dare, Jason, Foeldvari, Ivan, Vehe, Richard, Simon, Teresa, Brunner, Hermine, Verazza, S., Davì, S., Consolaro, A., Insalaco, A., Gerloni, V., Cimaz, R., Zulian, F., Pastore, S., Corona, F., Conti, G., Barone, P., Cattalini, M., Cortis, E., Breda, L., Olivieri, A. N., Civino, A., Podda, R., Rigante, D., La Torre, F., D’Angelo, G., Jorini, M., Gallizzi, R., Maggio, M. C., Consolini, R., De Fanti, A., Alpigiani, M. G., Martini, A., Ravelli, A., Kısaarslan, Aysenur Pac, Gunduz, Zubeyde, Dusunsel, Ruhan, Dursun, Ismail, Poyrazoglu, Hakan, Kuchinskaya, Ekaterina, Abduragimova, Farida, Kostik, Mikhail, Sundberg, Erik, Omarsdottir, Soley, Klevenvall, Lena, Erlandsson-Harris, Helena, Basbozkurt, Gokalp, Erdemli, Ozge, Simsek, Dogan, Yazici, Fatih, Karsioglu, Yildirim, Tezcaner, Aysen, Keskin, Dilek, Ozkan, Huseyin, Acikel, Cengizhan, Demirkaya, Erkan, Orbán, Ilonka, Sevcic, Krisztina, Brodszky, Valentin, Kiss, Emese, Tekko, Ismaiel A., Rooney, Madeleine, McElnay, James, Taggart, Cliff, McCarthy, Helen, Donnelly, Ryan F., Slatter, Mary, Nademi, Zohreh, Friswell, Mark, Jandial, Sharmila, Flood, Terence, Hambleton, Sophie, Gennery, Andrew, Cant, Andrew, Duong, Phoi-Ngoc, Koné-Paut, Isabelle, Filocamo, Giovanni, Gamir, María Luz, Sanner, Helga, Carenini, Laura, Topdemir, Mesut, Karslioglu, Yildirim, Gok, Faysal, Tsurikova, Nadezhda, Ligostaeva, Elena, Ramchurn, Navdha R., Kostareva, O., Nikishina, I., Arsenyeva, S., Rodionovskaya, S., Kaleda, M., Alexeev, D., Dursun, Ismail Dursun, Murias, Sara, Barral, Estefania, Alcobendas, Rosa, Enriquez, Eugenia, Remesal, Agustin, de Inocencio, Jaime, Castro, Tania M., Lotufo, Simone A., Freye, Tatjana, Carlomagno, Raffaella, Zumbrunn, Thomas, Bonhoeffer, Jan, Schneider, Elvira Cannizzaro, Kaiser, Daniela, Hofer, Michaël, Hentgen, Véronique, Woerner, Andreas, Schwarz, Tobias, Klotsche, Jens, Niewerth, Martina, Ganser, Gerd, Jeyaratnam, Jerold, ter Haar, Nienke, Rigante, Donato, Dedeoglu, Fatma, Baris, Ezgi, Vastert, Sebastiaan, Frenkel, Joost, Hausmann, Jonathan S., Lomax, Kathleen G., Shapiro, Ari, Durrant, Karen L., Brogan, P. A., Hofer, M., Kuemmerle-Deschner, J. B., Lauwerys, B., Speziale, A., Leon, K., Wei, X., Laxer, R. M., Signa, Sara, Rusmini, Marta, Campione, Elena, Chiesa, Sabrina, Grossi, Alice, Omenetti, Alessia, Caorsi, Roberta, Viglizzo, Gianmaria, Ceccherini, Isabella, Federici, Silvia, Lachmann, Helen, Ruperto, Nicola, Vanoni, Federica, Gomes, Sonia Melo, Omoyinmi, Ebun, Arostegui, Juan I., Gonzalez-Roca, Eva, Eleftheriou, Despina, Klein, Nigel, Brogan, Paul, Volpi, Stefano, Santori, Elettra, Picco, Paolo, Pastorino, Claudia, Rice, Gillian, Tesser, Alessandra, Crow, Yanick, Candotti, Fabio, Sinoplu, Ada B., Yucel, Gozde, Pamuk, Gizem, Damian, Laura O., Lazea, Cecilia, Sparchez, Mihaela, Vele, Paulina, Muntean, Laura, Albu, Adriana, Rednic, Simona, Lazar, Calin, Mendonça, Leonardo O., Pontillo, Alessandra, Kalil, Jorge, Castro, Fabio M., Barros, Myrthes T., Pardeo, Manuela, Messia, Virginia, De Benedetti, Fabrizio, Insalaco, Antonella, Malighetti, Giorgia, Gorio, Chiara, Ricci, Francesca, Parissenti, Ilaria, Montesano, Paola, Bonafini, Barbara, Medeghini, Veronica, Cattalini, Marco, Giordano, Lucio, Zani, Giulia, Ferraro, Rosalba, Vairo, Donatella, Giliani, Silvia, Maggio, Maria Cristina, Luppino, Girolamo, Corsello, Giovanni, Fernandez, Maria Isabel Gonzalez, Montesinos, Berta Lopez, Vidal, Adriana Rodriguez, Gorospe, Juan I. Arostegui, Penades, Inmaculada Calvo, Rafiq, Nadia K., Wynne, Karen, Hussain, Khalid, Brogan, Paul A., Ang, Elizabeth, Ng, Nicholas, Kacar, Ayla, Gucenmez, Ozge Altug, Makay, Balahan, Unsal, Sevket Erbil, Sahin, Yasin, Kutlu, Tufan, Cullu-Cokugras, Fugen, Ayyildiz-Civan, Hasret, Erkan, Tulay, Al Zuhbi, Sana, Abdalla, Eiman, Russo, Ricardo A., Katsicas, María M., Minoia, Francesca, Ravelli, Angelo, Bhattad, Sagar, Gupta, Anju, Pandiarajan, Vignesh, Nada, Ritambhra, Tiewsoh, Kaara, Hawkins, Philip, Rowczenio, Dorota, Fingerhutova, Sarka, Franova, Jana, Prochazkova, Leona, Hlavackova, Eva, Dolezalova, Pavla, Evrengül, Havva, Yüksel, Selçuk, Doğan, Mustafa, Gürses, Dolunay, Evrengül, Harun, De Pauli, Silvia, Pastore, Serena, Bianco, Anna Monica, Severini, Giovanni Maria, Taddio, Andrea, Tommasini, Alberto, Salugina, Svetlana O., Fedorov, Evgeny, Kamenets, Elena, Zaharova, Ekaterina, Sleptsova, Tatiana, Alexeeva, Ekaterina, Savostyanov, Kirill, Pushkov, Alexander, Bzarova, Tatyana, Valieva, Saniya, Denisova, Rina, Isayeva, Kseniya, Chistyakova, Evgeniya, Soloshenko, Margarita, Kaschenko, Elena, Kaneko, Utako, Imai, Chihaya, Saitoh, Akihiko, Teixeira, Vitor A., Ramos, Filipa O., Costa, Manuela, Aviel, Yonatan Butbul, Fahoum, Shafe, Brik, Riva, Özçakar, Zeynep Birsin, Celikel, Banu Acar, Yalcinkaya, Fatos, Schiappapietra, Benedetta, Davi’, Sergio, Mongini, Federica, Giannone, Luisa, Bava, Cecilia, Alpigiani, Maria Giannina, Consolaro, Alessandro, Lazarevic, Dragana S., Vojinovic, Jelena, Basic, Jelena, Muratore, Valentina, Marzetti, Valentina, Quilis, Neus, Benavente, Belen Serrano, Alongi, Alessandra, Civino, Adele, Quartulli, Lorenzo, Januskeviciute, Giedre, van Dijkhuizen, Pieter, Groot, N., van Dijk, W., Kardolus, A., Suárez, Raul Gutiérrez, Nordal, Ellen B., Rypdal, Veronika G., Berntson, Lillemor, Ekelund, Maria, Aalto, Kristiina, Peltoniemi, Suvi, Zak, Marek, Glerup, Mia, Arnstad, Ellen D., Fasth, Anders, Rygg, Marite, Duarte, Ana Catarina, Sousa, Sandra, Teixeira, Lídia, Cordeiro, Ana, Santos, Mª José, Mourão, Ana Filipa, Santos, Maria José, Eusébio, Mónica, Lopes, Ana, Oliveira-Ramos, Filipa, Salgado, Manuel, Estanqueiro, Paula, Melo-Gomes, José, Martins, Fernando, Costa, José, Furtado, Carolina, Figueira, Ricardo, Branco, Jaime C., Fonseca, João E., Canhão, Helena, Mourão, Ana F., Santos, Maria Jose, Coda, Andrea, Cassidy, Samuel, West, Kerry, Hendry, Gordon, Grech, Debra, Jones, Julie, Hawke, Fiona, Grewal, Davinder Singh, Foley, Charlene, Killeen, Orla, MacDermott, Emma, Veale, Douglas, Fearon, Ursula, Konukbay, Dilek, Tarakci, Ela, Arman, Nilay, Şahin, Sezgin, Munro, Jane, Morgan, Esi, Riebschleger, Meredith, Horonjeff, Jennifer, Strand, Vibeke, Bingham, Clifton, Collante, Ma. Theresa M., Ganeva, Margarita, Stefanov, Stefan, Telcharova, Albena, Mihaylova, Dimitrina, Saraeva, Radoslava, Tzveova, Reni, Kaneva, Radka, Tsakova, Adelina, Temelkova, Katya, Picarelli, Maria Mercedes C., Danzmann, Luiz C., Barbé-Tuana, Florencia, Grun, Lucas K., Jones, Marcus H., Frković, Marijan, Ištuk, Karla, Birkić, Ika, Sršen, Saša, Jelušić, Marija, Easton, Alan, Quarmby, Rachael, Khubchandani, Raju, Chan, Mercedes, Srp, Radoslav, Kobrova, Katerina, Nemcova, Dana, Hoza, Jozef, Uher, Michal, Saifridova, Melania, Linkova, Lenka, Charuvanij, Sirirat, Leelayuwattanakul, Isree, Pacharapakornpong, Thita, Vallipakorn, Sakda A.-O., Lerkvaleekul, Butsabong, Vilaiyuk, Soamarat, Lanni, Stefano, Davì, Sergio, Cron, Randy Q., Passarelli, Chiara, Pisaneschi, Elisa, Novelli, Antonio, Bracaglia, Claudia, Caiello, Ivan, de Graaf, Kathy, Guilhot, Florence, Ferlin, Walter, Schulert, Grant, Grom, Alexi A., Nelson, Robert, de Min, Cristina, Holzinger, Dirk, Kessel, Christoph, Fall, Ndate, Grom, Alexei, de Jager, Wilco, Strippoli, Raffaele, Horne, Anna, Ehl, Stephan, Ammann, Sandra, Lehmberg, Kai, Beutel, Karin, Foell, Dirk, Horne, AnnaCarin, Pagani, Laura, Espada, Graciela, Gao, Yi-jin, Shenoi, Susan, Weitzman, Sheila, Prencipe, Giusi, Pascarella, Antonia, Ferlin, Walter G., Chatel, Laurence, Jacqmin, Philippe, De Graaf, Kathy, Ballabio, Maria, Johnson, Zoë, Lapeyre, Geneviève, de Benedetti, Fabrizio, Cristina, de Min, Wakiguchi, Hiroyuki, Hasegawa, Shunji, Hirano, Reiji, Okazaki, Fumiko, Nakamura, Tamaki, Kaneyasu, Hidenobu, Ohga, Shouichi, Yamazaki, Kazuko, Nozawa, Tomo, Kanetaka, Taichi, Ito, Shuichi, Yokota, Shumpei, McLellan, Kirsty, MacGregor, Ishbel, Martin, Neil, Davidson, Joyce, Hansmann, Sandra, Eikelberg, Andreas, Haug, Iris, Schuller, Sabrina, Benseler, Susanne M., Nazarova, Liliia S., Danilko, Kseniia V., Malievsky, Viktor A., Viktorova, Tatiana V., Mauro, Angela, Barnicoat, Angela, Hurst, Jane, Canham, Nathalie, Lacassagne, Sandrine, Wiener, Anastasia, Hügle, Boris, Denecke, Bernd, Costa-Filho, Ivan, Haas, Johannes Peter, Tenbrock, Klaus, Popp, David, Boltjes, Arjan, Rühle, Frank, Herresthal, Stefanie, van Wijk, Femke, Schultze, Joachim, Stoll, Monika, Klotz, Luisa, Vogl, Thomas, Roth, Johannes, Quesada-Masachs, Estefania, de la Sierra, Daniel Álvarez, Prat, Marina Garcia, Sánchez, Ana M. Marín, Borrell, Ricardo Pujol, Barril, Sara Marsal, Gallo, Mónica Martínez, Caballero, Consuelo Modesto, Chyzheuskaya, Iryna, Byelyaeva, Lyudmyla M., Filonovich, Rostislav M., Khrustaleva, Helena K., Zajtseva, Larisa I., Yuraga, Tamara M., Giner, Thomas, Hackl, Lukas, Albrecht, Julia, Würzner, Reinhard, Brunner, Juergen, Minute, Marta, Parentin, Fulvio, Nocerino, Agostino, Nørgaard, Mette, Alberdi-Saugstrup, Mikel, Zak, Marek S., Nielsen, Susan M., Nordal, Ellen, Müller, Klaus G., Avramovič, Mojca Zajc, Dolžan, Vita, Toplak, Nataša, Avčin, Tadej, Ruperto, N., Lovell, D. J., Wallace, C., Toth, M., Foeldvari, I., Bohnsack, J., Milojevic, D., Rabinovich, C., Kingsbury, D., Marzan, K., Quartier, P., Minden, K., Chalom, E., Horneff, G., Kuester, R. M., Dare, J., Heinrich, M., Kupper, H., Kalabic, J., Brunner, H. I., Burgos-Vargas, Ruben, Constantin, Tamas, Dehoorne, Joke, Stanevica, Valda, Kobusinska, Katarzyna, Zuber, Zbigniew, Mouy, Richard, Rumba-Rozenfelde, Ingrida, Job-Deslandre, Chantal, Pederson, Ronald, Bukowski, Jack, Hinnershitz, Tina, Vlahos, Bonnie, Keskitalo, Paula, Kangas, Salla, Vähäsalo, Paula, Valencia, Raul A. Chavez, Martino, David, Ponsonby, Anne-Louise, Chiaroni-Clarke, Rachel, Meyer, Braydon, Allen, Roger C., Akikusa, Jonathan D., Craig, Jeffrey M., Saffrey, Richard, Ellis, Justine A., Wallace, Carol, Uziel, Yosef, Sterba, Gary, Schneider, Rayfel, Russo, Ricardo, Ramanan, Athimalaipet V., Schmid, Jana Pachlopnik, Nichols, Kim E, Miettunen, Paivi, Kitoh, Toshiyuki, Ilowite, Norman T., Henter, Jan-Inge, Grom, Alexei A, Behrens, Edward M., Avcin, Tadej, Aricò, Maurizio, Grevich, Sriharsha, Lee, Peggy, Ringold, Sarah, Leroux, Brian, Leahey, Hannah, Yuasa, Megan, Foster, Jessica, Sokolove, Jeremy, Lahey, Lauren, Robinson, William, Newson, Joshua, Stevens, Anne, Shoop, Stephanie J. W., Verstappen, Suzanne M. M., Thomson, Wendy, McDonagh, Janet E., Beukelman, Timothy, Kimura, Yuki, Natter, Marc, Ilowite, Norm, Mieszkalski, Kelly, Burrell, Grendel, Best, Brian, Bristow, Helen, Carr, Shannon, Dennos, Anne, Kaufmann, Rachel, Schanberg, Laura, Simonini, Gabriele, Lancini, Francesca, Gerbaux, Margaux, Lê, Phu-Quoc, Goffin, Laurence, Badot, Valérie, La, Céline, Caspers, Laure, Willermain, François, Ferster, Alina, Ceci, Maria, Licciardi, Francesco, Turco, Marco, Santarelli, Francesca, Montin, Davide, Toppino, Claudia, Alizzi, Clotilde, Papia, Bruno, Vergara, Beatrice, Corpora, Umberto, Messina, Luca, Tsinti, Maria, Dermentzoglou, Vasiliko, Tziavas, Panagiotis, Perica, Marija, Bukovac, Lana Tambić, Çakan, Mustafa, Ayaz, Nuray Aktay, Keskindemirci, Gonca, Lang, Michael, Laing, Catherine, Benseler, Susanne, Gerschman, Tommy, Luca, Nadia, Schmeling, Heinrike, Dropol, Anastasia, Taiani, Jaymi, Johnson, Nicole, Rusted, Brian, Nalbanti, Panagiota, Pratsidou, Polyxeni, Pardalos, Grigoris, Tzimouli, Vasiliki, Taparkou, Anna, Stavrakidou, Maria, Papachristou, Fotios, Kanakoudi-Tsakalidou, Florence, Bale, Peter, Robinson, Emily, Palman, Jason, Ralph, Elizabeth, Gilmour, Kimberly, Heard, Clare, Wedderburn, Lucy R., Barrense-Dias, Yara, Gregory, Antonarakis, Amira, Dhouib, Paolo, Scolozzi, Sylviane, Hanquinet, Michaël, Hofer, Panko, Nataliya, Shokry, Salah, Rakovska, Liudmila, Pino, Sally, Diaz-Maldonado, Adriana, Guarnizo, Pilar, Torreggiani, Sofia, Cressoni, Paolo, Garagiola, Umberto, Di Landro, Giancarla, Farronato, Giampietro, Corona, Fabrizia, Bell, Samantha, Bhatti, Parveen, Nelson, Lee, Mueller, Beth A., Simon, T. A., Baheti, A., Ray, N., Guo, Z., Hazra, Anasuya, Stock, Thomas, Wang, Ronnie, Mebus, Charles, Alvey, Christine, Lamba, Manisha, Krishnaswami, Sriram, Conte, Umberto, Wang, Min, Kingsbury, Daniel, Koskova, Elena, Smolewska, Elzbieta, Vehe, Richard K., Lovell, Daniel, Kubota, Tomohiro, Yasumura, Junko, Kizawa, Toshitaka, Yashiro, Masato, Yamatou, Tsuyoshi, Yamasaki, Yuichi, Takei, Syuji, Kawano, Yoshifumi, Nykvist, Ulrika Järpemo, Magnusson, Bo, Wicksell, Rikard, Palmblad, Karin, Olsson, Gunnar L., Modaressi, Mohammadreza, Moradinejad, Mohammad-Hassan, Seraya, Valentina, Vitebskaya, Alisa, Moshe, Veronica, Amarilyo, Gil, Harel, Liora, Hashkes, Phillip J, Mendelson, Amir, Rabinowicz, Noa, Reis, Yonit, Dāvidsone, Zane, Lazareva, Arina, Šantere, Ruta, Bērziņa, Dace, Staņēviča, Valda, Varnier, Giulia Camilla, Maillard, Susan, Ferrari, Cristina, Zaffarano, Silvia, Wienke, Judith, Enders, Felicitas Bellutti, van den Hoogen, Lucas L., Mertens, Jorre S., Radstake, Timothy R., Hotten, Henny G., Fritsch, Ruth, Wedderburn, Lucy, Nistala, Kiran, Prakken, Berent, van Royen-Kerkhof, Annet, Alhemairi, Mohammad, Muzaffer, Mohammed, Van Dijkhuizen, Pieter, Deakin, Claire T., Simou, Stefania, De Iorio, Maria, Wu, Qiong, Amin, Tania, Dossetter, Lee, Campanilho-Marques, Raquel, Deakin, Claire, Pilkington, Clarissa A., Rosina, Silvia, Soponkanaporn, Sirisucha, Arıcı, Zehra S., Tuğcu, Gökçen D., Batu, Ezgi D., Sönmez, Hafize E., Doğru-Ersöz, Deniz, Talim, Beril, Kiper, Nural, Özen, Seza, Solyom, Alexander, Batu, Ezgi, Mitchell, John, Kariminejad, Ariana, Hadipour, Fatemeh, Hadipour, Zahra, Torcoletti, Marta, Agostoni, Carlo, Di Rocco, Maja, Tanpaiboon, Pranoot, Superti-Furga, Andrea, Bonafé, Luisa, Arslan, Nur, Guelbert, Norberto, Ehlert, Karoline, Grigelioniene, Giedre, Puri, Ratna, Schuchman, Edward, Gomez, Pilar, Gonzalez, Tatiana, Yepez, Ricardo, Vargas, Camilo, Fernanda, Falcini, Lepri, Gemma, Ferrari, Alessandra, Matucci-Cerinic, Marco, Meini, Antonella, Moneta, Gian Marco, Marasco, Emiliano, Nicolai, Rebecca, Bracci-Laudiero, Luisa, Kopchak, Olga, Mushkin, Alexander, Maletin, Alexey, Mosquera, Catalina, Amorim, Rita A., Molina, Juliana, Moreira, Gustavo, Santos, Flávia H., Fraga, Melissa, Keppeke, Livia, Silva, Vanessa M., Hirotsu, Camila, Tufik, Sergio, Terreri, Maria Teresa, Braga, Vinícius L., Fonseca, Maria Beatriz, Schinzel, Vania, Terreri, Maria Teresa R., Jorge, Liliana, Guerra, Liana, Junior, Edson Amaro, Castiglione, Maria Cristina, Tricarico, Alessandra, Boulter, Emily, Schultz, Andre, Murray, Kevin, Falcini, Fernanda, Stagi, Stefano, Bellucci, Eleonora, Grein, Ingrid H. R., Pileggi, Gecilmara, Pinto, Natália B. F., de Oliveira, Aline L., Belyaeva, Lyudmila, Filonovich, Rostislav, Khrustaleva, Helena, Zajtseva, Larisa, Ilisson, Jaanika, Pruunsild, Chris, Gilliaux, Olivier, Corazza, Francis, Lelubre, Christophe, Morel, Zoilo, C, Claudia Saad-Magalhães, Lira, Luis, Ladino, Mabel, Eraso, Ruth, Arroyo, Ivonne, Silva, Clovis, and Rose, Carlos
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