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1. Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency

Author

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

Published
2024
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2. 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

Author

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

Published
2023
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4. Towards personalized vaccines.

Author

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

Subjects
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]

Published
2024
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5. MicroRNA dysregulation in ataxia telangiectasia.

Author

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

Subjects
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]

Published
2024
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6. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Author

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, Diaz De Heredia, Cristina, 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, Bacchetta, Rosa, and Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Subjects
Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation, Humans, Genetic Diseases, X-Linked, Diabetes Mellitus, Type 1, Immune System Diseases, Diarrhea, Disease-Free Survival, Hematopoietic Stem Cell Transplantation, Survival Rate, Retrospective Studies, Follow-Up Studies, Mutation, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Forkhead Transcription Factors, Allografts, Immunosuppression Therapy, FOXP3, IPEX, Treg cells, enteropathy, genetic autoimmunity, hematopoietic stem cell transplantation, immunosuppression, neonatal diabetes, primary immune deficiency, rapamycin, Clinical Research, Stem Cell Research, Regenerative Medicine, Pediatric, Genetics, Transplantation, Aetiology, 2.1 Biological and endogenous factors, Immunology, Allergy
Abstract

BackgroundImmunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.ObjectiveThis analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors.MethodsClinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed.ResultsWe confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS.ConclusionsPatients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.

Published
2018

7. Mulibrey nanism and immunological complications: a comprehensive case report and literature review

Author

Gazzin, Andrea, primary, Pala, Francesca, additional, Bosticardo, Marita, additional, Niemela, Julie, additional, Stoddard, Jennifer, additional, Biasin, Eleonora, additional, Quarello, Paola, additional, Carli, Diana, additional, Ferroni, Francesca, additional, Delmonte, Ottavia M., additional, Montin, Davide, additional, Rosenzweig, Sergio D., additional, Licciardi, Francesco, additional, and Notarangelo, Luigi D., additional

Published
2023
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8. B-cell development and functions and therapeutic options in adenosine deaminase–deficient patients

Author

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 JM, van der Burg, Mirjam, and Aiuti, Alessandro

Subjects
Regenerative Medicine, Genetics, Pediatric, Stem Cell Research, Transplantation, Stem Cell Research - Nonembryonic - Non-Human, Gene Therapy, 2.1 Biological and endogenous factors, 5.2 Cellular and gene therapies, Aetiology, Development of treatments and therapeutic interventions, Inflammatory and immune system, Adenosine Deaminase, Adolescent, B-Cell Activating Factor, B-Lymphocytes, Child, Child, Preschool, Enzyme Replacement Therapy, Genetic Therapy, Hematopoietic Stem Cell Transplantation, Humans, Infant, Gene therapy, adenosine deaminase-deficient severe combined immunodeficiency, B-cell development, antibodies, adenosine deaminase–deficient severe combined immunodeficiency, Immunology, Allergy
Abstract

BackgroundAdenosine deaminase (ADA) deficiency causes severe cellular and humoral immune defects and dysregulation because of metabolic toxicity. Alterations in B-cell development and function have been poorly studied. Enzyme replacement therapy (ERT) and hematopoietic stem cell (HSC) gene therapy (GT) are therapeutic options for patients lacking a suitable bone marrow (BM) transplant donor.ObjectiveWe sought to study alterations in B-cell development in ADA-deficient patients and investigate the ability of ERT and HSC-GT to restore normal B-cell differentiation and function.MethodsFlow cytometry was used to characterize B-cell development in BM and the periphery. The percentage of gene-corrected B cells was measured by using quantitative PCR. B cells were assessed for their capacity to proliferate and release IgM after stimulation.ResultsDespite the severe peripheral B-cell lymphopenia, patients with ADA-deficient severe combined immunodeficiency showed a partial block in central BM development. Treatment with ERT or HSC-GT reverted most BM alterations, but ERT led to immature B-cell expansion. In the periphery transitional B cells accumulated under ERT, and the defect in maturation persisted long-term. HSC-GT led to a progressive improvement in B-cell numbers and development, along with increased levels of gene correction. The strongest selective advantage for ADA-transduced cells occurred at the transition from immature to naive cells. B-cell proliferative responses and differentiation to immunoglobulin secreting IgM after B-cell receptor and Toll-like receptor triggering were severely impaired after ERT and improved significantly after HSC-GT.ConclusionsADA-deficient patients show specific defects in B-cell development and functions that are differently corrected after ERT and HSC-GT.

Published
2014

9. Outcomes of MIS-C patients treated with anakinra: a retrospective multicenter national study

Author

Licciardi, Francesco, primary, Covizzi, Carlotta, additional, Dellepiane, Marta, additional, Olivini, Nicole, additional, Mastrolia, Maria Vincenza, additional, Lo Vecchio, Andrea, additional, Monno, Viviana, additional, Tardi, Maria, additional, Mauro, Angela, additional, Alessio, Maria, additional, Filocamo, Giovanni, additional, Cattalini, Marco, additional, Taddio, Andrea, additional, Caorsi, Roberta, additional, Marseglia, Gian Luigi, additional, La Torre, Francesco, additional, Campana, Andrea, additional, Simonini, Gabriele, additional, Ravelli, Angelo, additional, and Montin, Davide, additional

Published
2023
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10. Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Author

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

Subjects
primary immunodeficiencies, Next Generation Sequencing, gene panels, Ion Torrent, Haloplex, Immunologic diseases. Allergy, RC581-607
Published
2019
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11. Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Author

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

Subjects
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.

Published
2019
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12. Discordance between Clinical and Ultrasound Examinations in Juvenile Idiopathic Arthritis: An Experimental Approach

Author

Licciardi, Francesco, primary, Petraz, Marco, additional, Covizzi, Carlotta, additional, Santarelli, Francesca, additional, Cirone, Carlotta, additional, Mulatero, Roberta, additional, Robasto, Francesca, additional, Dellepiane, Marta, additional, Martino, Silvana, additional, Montin, Davide, additional, and Ravagnani, Viviana, additional

Published
2022
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13. Prevalence of familial autoimmune diseases in juvenile idiopathic arthritis: results from the international Pharmachild registry

Author

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

Subjects
Registry, Epidemiology, Juvenile idiopathic arthritis, Familial autoimmune diseases, Pediatric rheumatology, Arthritis, Juvenile, Arthritis, Rheumatoid, Rheumatology, Pediatrics, Perinatology and Child Health, Prevalence, Humans, Immunology and Allergy, Spondylitis, Ankylosing, Registries, Child
Abstract

Background Little is known about the disposition to autoimmune diseases (ADs) among children diagnosed with JIA. In this study, we provide a comprehensive overview of the prevalence of and factors associated with ADs in parents of children with juvenile idiopathic arthritis (JIA). Methods Prevalence rates of ADs and 95% Poisson confidence intervals were calculated for parents of JIA patients from the international Pharmachild registry and compared with general population prevalence rates as reported in the literature. Demographic, clinical and laboratory features were compared between JIA patients with and without a family history of AD using χ2 and Mann-Whitney U tests. Results Eight thousand six hundred seventy three patients were included and the most common familial ADs were psoriasis, autoimmune thyroid disease, rheumatoid arthritis and ankylosing spondylitis. The prevalence of several ADs was higher in parents of the included JIA patients than in the general population. Clinical Juvenile Arthritis Disease Activity Scores at study entry and last follow-up were not significantly different between patients with (n = 1231) and without a family history of AD (n = 7442). Factors associated with familial AD were older age at JIA onset (P P P P = 0.03) and HLA-B27 positivity (P Conclusions Familial AD proves to be a risk factor for JIA development and certain diseases should therefore not be overlooked during family health history at the diagnosis stage. A family history of AD is associated with the JIA category but does not influence the severity or disease course.

Published
2022

14. Additional file 3 of Prevalence of familial autoimmune diseases in juvenile idiopathic arthritis: results from the international Pharmachild registry

Author

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.

Abstract

Additional file 3. Prevalence rates of diseases from the “other autoimmune disease” category in parents of included JIA patients (n = 17,346).

Published
2022
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15. Additional file 2 of Prevalence of familial autoimmune diseases in juvenile idiopathic arthritis: results from the international Pharmachild registry

Author

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.

Abstract

Additional file 2. Classification of reported autoimmune diseases in parents of included JIA patients.

Published
2022
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16. Corrigendum: MIS-C Treatment: Is IVIG Always Necessary?

Author

Licciardi, Francesco, primary, Baldini, Letizia, additional, Dellepiane, Marta, additional, Covizzi, Carlotta, additional, Mogni, Roberta, additional, Pruccoli, Giulia, additional, Orsi, Cecilia, additional, Rabbone, Ivana, additional, Parodi, Emilia, additional, Mignone, Federica, additional, and Montin, Davide, additional

Published
2022
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17. MIS-C Treatment: Is IVIG Always Necessary?

Author

Licciardi, Francesco, primary, Baldini, Letizia, additional, Dellepiane, Marta, additional, Covizzi, Carlotta, additional, Mogni, Roberta, additional, Pruccoli, Giulia, additional, Orsi, Cecilia, additional, Rabbone, Ivana, additional, Parodi, Emilia, additional, Mignone, Federica, additional, and Montin, Davide, additional

Published
2021
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18. Canakinumab in systemic juvenile idiopathic arthritis: real-world data from a retrospective Italian cohort

Author

De Matteis, Arianna, primary, Bracaglia, Claudia, additional, Pires Marafon, Denise, additional, Piscitelli, Anna Lucia, additional, Alessio, Maria, additional, Naddei, Roberta, additional, Orlando, Francesca, additional, Filocamo, Giovanni, additional, Minoia, Francesca, additional, Ravelli, Angelo, additional, Tibaldi, Jessica, additional, Cimaz, Rolando, additional, Marino, Achille, additional, Simonini, Gabriele, additional, Mastrolia, Maria Vincenza, additional, La Torre, Francesco, additional, Tricarico, Ilaria, additional, Licciardi, Francesco, additional, Montin, Davide, additional, Maggio, Maria Cristina, additional, Alizzi, Clotilde, additional, Martini, Giorgia, additional, Civino, Adele, additional, Gallizzi, Romina, additional, Olivieri, Alma Nunzia, additional, Ardenti Morini, Francesca, additional, Conti, Giovanni, additional, De Benedetti, Fabrizio, additional, and Pardeo, Manuela, additional

Published
2021
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19. Biotechnological Agents for Patients With Tumor Necrosis Factor Receptor Associated Periodic Syndrome—Therapeutic Outcome and Predictors of Response: Real-Life Data From the AIDA Network

Author

Vitale, Antonio, primary, Obici, Laura, additional, Cattalini, Marco, additional, Lopalco, Giuseppe, additional, Merlini, Giampaolo, additional, Ricco, Nicola, additional, Soriano, Alessandra, additional, La Torre, Francesco, additional, Verrecchia, Elena, additional, Insalaco, Antonella, additional, Dagna, Lorenzo, additional, Jaber, Masen Abdel, additional, Montin, Davide, additional, Emmi, Giacomo, additional, Ciarcia, Luisa, additional, Barneschi, Sara, additional, Parronchi, Paola, additional, Ruscitti, Piero, additional, Maggio, Maria Cristina, additional, Viapiana, Ombretta, additional, Sota, Jurgen, additional, Gaggiano, Carla, additional, Giacomelli, Roberto, additional, Sicignano, Ludovico Luca, additional, Manna, Raffaele, additional, Renieri, Alessandra, additional, Lo Rizzo, Caterina, additional, Frediani, Bruno, additional, Rigante, Donato, additional, and Cantarini, Luca, additional

Published
2021
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20. Premature Senescence and Increased Oxidative Stress in the Thymus of Down Syndrome Patients

Author

Marcovecchio, Genni Enza, primary, Ferrua, Francesca, additional, Fontana, Elena, additional, Beretta, Stefano, additional, Genua, Marco, additional, Bortolomai, Ileana, additional, Conti, Anastasia, additional, Montin, Davide, additional, Cascarano, Maria Teresa, additional, Bergante, Sonia, additional, D’Oria, Veronica, additional, Giamberti, Alessandro, additional, Amodio, Donato, additional, Cancrini, Caterina, additional, Carotti, Adriano, additional, Di Micco, Raffaella, additional, Merelli, Ivan, additional, Bosticardo, Marita, additional, and Villa, Anna, additional

Published
2021
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21. Additional file 2 of 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

Author

Cattalini, Marco, Paolera, Sara Della, 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, Torre, Francesco La, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, and Taddio, Andrea

Subjects
hemic and lymphatic diseases, cardiovascular diseases, skin and connective tissue diseases
Abstract

Additional file 2: Appendix 2. Clinical comparison between Kawasaki Disease patients seen during SARS-CoV-2 epidemic and a Historical Cohort of Kawasaki Disease Patients.

Published
2021
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22. Additional file 1 of 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

Author

Cattalini, Marco, Paolera, Sara Della, 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, Torre, Francesco La, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, and Taddio, Andrea

Abstract

Additional file 1: Appendix 1.

Published
2021
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23. Additional file 3 of 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

Author

Cattalini, Marco, Paolera, Sara Della, 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, Torre, Francesco La, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, and Taddio, Andrea

Subjects
hemic and lymphatic diseases, cardiovascular diseases, skin and connective tissue diseases
Abstract

Additional file 3: Appendix 3. Laboratory comparison between Kawasaki Disease patients seen during SARS-CoV-2 epidemic and a Historical Cohort of Kawasaki Disease Patients.

Published
2021
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24. Additional file 4 of 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

Author

Cattalini, Marco, Paolera, Sara Della, 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, Torre, Francesco La, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, and Taddio, Andrea

Subjects
hemic and lymphatic diseases, cardiovascular diseases, skin and connective tissue diseases
Abstract

Additional file 4: Appendix 4. Clinical comparison between Kawasaki Disease patients seen during SARS-CoV-2 in high epidemic regions (Piedmont and Lombardy) and Kawasaki Disease Patients in low epidemic regions.

Published
2021
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25. Additional file 5 of 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

Author

Cattalini, Marco, Paolera, Sara Della, 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, Torre, Francesco La, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, and Taddio, Andrea

Subjects
hemic and lymphatic diseases, cardiovascular diseases, skin and connective tissue diseases
Abstract

Additional file 5: Appendix 5. Comparison of laboratory tests between Kawasaki Disease patients seen during SARS-CoV-2 in high epidemic regions (Piedmont and Lombardy) and Kawasaki Disease Patients in low epidemic regions.

Published
2021
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26. Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: Analysis by the Pharmachild Safety Adjudication Committee

Author

Immuno/reuma patientenzorg, Child Health, Infectieziekten patientenzorg, Infection & Immunity, Cluster B, Immuno/reuma onderzoek 1 (Vastert), Immunologie/Reumatologie, Regenerative Medicine and Stem Cells, Onderzoek, Giancane, Gabriella, Swart, Joost F., Castagnola, Elio, Groll, Andreas H., Horneff, Gerd, Huppertz, Hans Iko, Lovell, Daniel J., Wolfs, Tom, Herlin, Troels, Dolezalova, Pavla, Sanner, Helga, Susic, Gordana, Sztajnbok, Flavio, Maritsi, Despoina, Constantin, Tamas, Vargova, Veronika, Sawhney, Sujata, Rygg, Marite, Oliveira, Sheila K., Cattalini, Marco, Bovis, Francesca, Bagnasco, Francesca, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Cuttica, Ruben, Garay, Stella Maris, Brunner, Jurgen, Emminger, Wolfgang, Appenzeller, Simone, Len, Claudio, Saad Magalhaes, Claudia, Telcharova-Mihaylovska, Albena, Harjacek, Miroslav, Jelusic, Marija, Estmann, Anne, Nielsen, Susan, Herrera Mora, Cristina, Gervais, Elisabeth, Koné-Paut, Isabelle, Quartier, Pierre, Foeldvari, Ivan, Lutz, Thomas, Minden, Kirsten, Tzaribachev, Nikolay, Trachana, Maria, Tsitsami, Elena, Vougiouka, Olga, Orban, Ilonka, Harel, Liora, Hashkes, Philip, Uziel, Yosef, Cimaz, Rolando, Civino, Adele, Consolini, Rita, D'Angelo, Gianfranco, De Benedetti, Fabrizio, Filocamo, Giovanni, Fueri, Elena, Gallizzi, Romina, Maggio, Maria Cristina, Magnolia, Maria Greca, Miniaci, Angela, Montin, Davide, Olivieri, Alma Nunzia, Pastore, Serena, Rigante, Donato, Zulian, Francesco, Rumba-Rozenfelde, Ingrida, Stanevicha, Valda, Panaviene, Violeta, Rodriguez Lozano, Ana Luisa, Rubio-Perez, Nadina, Vega Cornejo, Gabriel, Hoppenreijs, Esther, Kamphuis, Sylvia, Flato, Berit, Nordal, Ellen Berit, Abdwani, Reem, Miraval, Tatiana, Paz Gastanaga, Maria Eliana, Smolewska, Elzbieta, Ailioaie, Constantin, Cochino, Alexis Virgil, Laday, Matilda, Lazar, Calin, Alexeeva, Ekaterina, Chasnyk, Vyacheslav, Keltsev, Vladimir, Suwairi, Wafaa Mohammed Saad, Vijatov-Djuric, Gordana, Vojinovic, Jelena, Arkachaisri, Thaschawee, Koskova, Elena, Avcin, Tadej, Ally, Mahmood, Van Rensburg, Christa Janse, Louw, Ingrid, Lopez, Jordi Anton, Boteanu, Alina Lucica, Calvo Penades, Inmaculada, De Inocencio, Jaime, Mesa-Del-Castillo, Pablo, Moreno, Estefania, Remesal, Agustin, Hofer, Michael, Gok, Faysal, Ozen, Seza, Ramanan, Athimalaipet, Pallotti, Chiara, Villa, Luca, Immuno/reuma patientenzorg, Child Health, Infectieziekten patientenzorg, Infection & Immunity, Cluster B, Immuno/reuma onderzoek 1 (Vastert), Immunologie/Reumatologie, Regenerative Medicine and Stem Cells, Onderzoek, Giancane, Gabriella, Swart, Joost F., Castagnola, Elio, Groll, Andreas H., Horneff, Gerd, Huppertz, Hans Iko, Lovell, Daniel J., Wolfs, Tom, Herlin, Troels, Dolezalova, Pavla, Sanner, Helga, Susic, Gordana, Sztajnbok, Flavio, Maritsi, Despoina, Constantin, Tamas, Vargova, Veronika, Sawhney, Sujata, Rygg, Marite, Oliveira, Sheila K., Cattalini, Marco, Bovis, Francesca, Bagnasco, Francesca, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Cuttica, Ruben, Garay, Stella Maris, Brunner, Jurgen, Emminger, Wolfgang, Appenzeller, Simone, Len, Claudio, Saad Magalhaes, Claudia, Telcharova-Mihaylovska, Albena, Harjacek, Miroslav, Jelusic, Marija, Estmann, Anne, Nielsen, Susan, Herrera Mora, Cristina, Gervais, Elisabeth, Koné-Paut, Isabelle, Quartier, Pierre, Foeldvari, Ivan, Lutz, Thomas, Minden, Kirsten, Tzaribachev, Nikolay, Trachana, Maria, Tsitsami, Elena, Vougiouka, Olga, Orban, Ilonka, Harel, Liora, Hashkes, Philip, Uziel, Yosef, Cimaz, Rolando, Civino, Adele, Consolini, Rita, D'Angelo, Gianfranco, De Benedetti, Fabrizio, Filocamo, Giovanni, Fueri, Elena, Gallizzi, Romina, Maggio, Maria Cristina, Magnolia, Maria Greca, Miniaci, Angela, Montin, Davide, Olivieri, Alma Nunzia, Pastore, Serena, Rigante, Donato, Zulian, Francesco, Rumba-Rozenfelde, Ingrida, Stanevicha, Valda, Panaviene, Violeta, Rodriguez Lozano, Ana Luisa, Rubio-Perez, Nadina, Vega Cornejo, Gabriel, Hoppenreijs, Esther, Kamphuis, Sylvia, Flato, Berit, Nordal, Ellen Berit, Abdwani, Reem, Miraval, Tatiana, Paz Gastanaga, Maria Eliana, Smolewska, Elzbieta, Ailioaie, Constantin, Cochino, Alexis Virgil, Laday, Matilda, Lazar, Calin, Alexeeva, Ekaterina, Chasnyk, Vyacheslav, Keltsev, Vladimir, Suwairi, Wafaa Mohammed Saad, Vijatov-Djuric, Gordana, Vojinovic, Jelena, Arkachaisri, Thaschawee, Koskova, Elena, Avcin, Tadej, Ally, Mahmood, Van Rensburg, Christa Janse, Louw, Ingrid, Lopez, Jordi Anton, Boteanu, Alina Lucica, Calvo Penades, Inmaculada, De Inocencio, Jaime, Mesa-Del-Castillo, Pablo, Moreno, Estefania, Remesal, Agustin, Hofer, Michael, Gok, Faysal, Ozen, Seza, Ramanan, Athimalaipet, Pallotti, Chiara, and Villa, Luca

Published
2020

27. Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot

Author

Carli, Diana, primary, Moroni, Alice, additional, Eleonora, Di Gregorio, additional, Zonta, Andrea, additional, Montin, Davide, additional, Licciardi, Francesco, additional, Aidala, Enrico, additional, Bordese, Roberto, additional, Carlo, Pace Napoleone, additional, Brusco, Alfredo, additional, Giovanni Battista, Ferrero, additional, and Mussa, Alessandro, additional

Published
2021
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29. Canakinumab in systemic juvenile idiopathic arthritis: real-world data from a retrospective Italian cohort.

Author

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

Subjects
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]

Published
2022
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31. 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

Author

Gaggiano, Carla, primary, Vitale, Antonio, additional, Obici, Laura, additional, Merlini, Giampaolo, additional, Soriano, Alessandra, additional, Viapiana, Ombretta, additional, Cattalini, Marco, additional, Maggio, Maria Cristina, additional, Lopalco, Giuseppe, additional, Montin, Davide, additional, Jaber, Masen Abdel, additional, Dagna, Lorenzo, additional, Manna, Raffaele, additional, Insalaco, Antonella, additional, Piga, Matteo, additional, La Torre, Francesco, additional, Berlengiero, Virginia, additional, Gelardi, Viviana, additional, Ciarcia, Luisa, additional, Emmi, Giacomo, additional, Ruscitti, Piero, additional, Caso, Francesco, additional, Cimaz, Rolando, additional, Hernández-Rodríguez, José, additional, Parronchi, Paola, additional, Sicignano, Ludovico Luca, additional, Verrecchia, Elena, additional, Iannone, Florenzo, additional, Sota, Jurgen, additional, Grosso, Salvatore, additional, Salvarani, Carlo, additional, Frediani, Bruno, additional, Giacomelli, Roberto, additional, Mencarelli, Maria Antonietta, additional, Renieri, Alessandra, additional, Rigante, Donato, additional, and Cantarini, Luca, additional

Published
2020
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32. Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network

Author

Vitale, Antonio, primary, Sota, Jurgen, additional, Obici, Laura, additional, Ricco, Nicola, additional, Maggio, Maria Cristina, additional, Cattalini, Marco, additional, Ruscitti, Piero, additional, Caso, Francesco, additional, Manna, Raffaele, additional, Viapiana, Ombretta, additional, Caggiano, Valeria, additional, Emmi, Giacomo, additional, Insalaco, Antonella, additional, Montin, Davide, additional, Licciardi, Francesco, additional, Soriano, Alessandra, additional, Dagna, Lorenzo, additional, Salvarani, Carlo, additional, Lamacchia, Vittoria, additional, Hernández-Rodríguez, José, additional, Giacomelli, Roberto, additional, Frediani, Bruno, additional, Renieri, Alessandra, additional, and Cantarini, Luca, additional

Published
2020
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33. Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

Author

Cirillo, Emilia, primary, Cancrini, Caterina, additional, Azzari, Chiara, additional, Martino, Silvana, additional, Martire, Baldassarre, additional, Pession, Andrea, additional, Tommasini, Alberto, additional, Naviglio, Samuele, additional, Finocchi, Andrea, additional, Consolini, Rita, additional, Pierani, Paolo, additional, D'Alba, Irene, additional, Putti, Maria Caterina, additional, Marzollo, Antonio, additional, Giardino, Giuliana, additional, Prencipe, Rosaria, additional, Esposito, Federica, additional, Grasso, Fiorentino, additional, Scarselli, Alessia, additional, Di Matteo, Gigliola, additional, Attardi, Enrico, additional, Ricci, Silvia, additional, Montin, Davide, additional, Specchia, Fernando, additional, Barzaghi, Federica, additional, Cicalese, Maria Pia, additional, Quaremba, Giuseppe, additional, Lougaris, Vassilios, additional, Giliani, Silvia, additional, Locatelli, Franco, additional, Rossi, Paolo, additional, Aiuti, Alessandro, additional, Badolato, Raffaele, additional, Plebani, Alessandro, additional, and Pignata, Claudio, additional

Published
2019
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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.

Author

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

Subjects
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]

Published
2021
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35. Circulating Follicular Helper and Follicular Regulatory T Cells Are Severely Compromised in Human CD40 Deficiency: A Case Report

Author

Cicalese, Maria Pia, primary, Gerosa, Jolanda, additional, Baronio, Manuela, additional, Montin, Davide, additional, Licciardi, Francesco, additional, Soresina, Annarosa, additional, Dellepiane, Rosa Maria, additional, Miano, Maurizio, additional, Baselli, Lucia Augusta, additional, Volpi, Stefano, additional, Dufour, Carlo, additional, Plebani, Alessandro, additional, Aiuti, Alessandro, additional, Lougaris, Vassilios, additional, and Fousteri, Georgia, additional

Published
2018
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36. NeMO mutations: a rare cause of monogenic Behçet-like disease.

Author

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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37. Comparison of Two Available RNA Extraction Protocols for microRNA Amplification in Serum Samples

Author

Bergallo, Massimiliano, Gambarino, Stefano, Martino, Silvana, Montin, Davide, Montanari, Paola, Galliano, Ilaria, and Tovo, Pier Angelo

Subjects
microRNA, MGB probe, extraction, real-time PCR, retrotrascription, serum, stem-loop primers, Humans, MicroRNAs, Nucleic Acid Conformation, RNA, Real-Time Polymerase Chain Reaction, Research Articles
Abstract

BACKGROUND: microRNAs play a critical role in many biological processes such as cell proliferation and maturation, apoptosis, regulation of chronic inflammation and development of cancer. METHODS: In this study is described a protocol for the isolation of RNA from serum and subsequent determination of miRNA expression levels using TaqMan‐based MGB Real‐Time PCR detection. RNA was extracted using two different isolation methods including available kits RNAzol and a modified RNAzol protocol. In all cases, RNA was eluted in RNase free H(2)O, kept frozen until analysis and the presence of contaminants assessed by NanoDrop spectrophotometry. RESULTS: Higher RNA quantity was observed in RNAzol (378.8 ng/μl) vs RNAzol modified protocol (226.5 ng/μl) and a better performance in terms of RNA extraction yield and purity. Subsequently, measurements of endogenous miRNAs (RNU43), cellular miRNAs (mir155 and mir146a) and EBV miRNAs (mirBART2‐5p, mirBART15 and mirBART22) were performed by RT‐qPCR. CONCLUSION: In contrast to the findings in terms of purity and quantity, the amplifiable RNA was more abundant using RNAzol modified protocol compared to not modified protocol.

Published
2014

38. Whole Exome Sequencing Identifies TTC7A Mutations for Combined Immunodeficiency with Intestinal Atresias

Author

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.

Subjects
Male, Immunologic Deficiency Syndromes, Infant, Newborn, Intestinal Atresia, Infant, Proteins, Thymus Gland, Article, Intestines, Mice, Tissue Array Analysis, Child, Preschool, Mutation, Animals, Humans, Exome, Female, RNA, Messenger, Oligonucleotide Array Sequence Analysis
Abstract

Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects.We sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequences of 5 patients and their healthy direct relatives from 5 unrelated families.We performed whole-exome sequencing on 5 patients with CID-MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA. We also performed targeted Sanger sequencing for the candidate gene tetratricopeptide repeat domain 7A (TTC7A) on 3 additional patients with CID-MIA.Through analysis and comparison of the exomic sequence of the subjects from these 5 families, we identified biallelic damaging mutations in the TTC7A gene, for a total of 7 distinct mutations. Targeted TTC7A gene sequencing in 3 additional unrelated patients with CID-MIA revealed biallelic deleterious mutations in 2 of them, as well as an aberrant splice product in the third patient. Staining of normal thymus showed that the TTC7A protein is expressed in thymic epithelial cells, as well as in thymocytes. Moreover, severe lymphoid depletion was observed in the thymus and peripheral lymphoid tissues from 2 patients with CID-MIA.We identified deleterious mutations of the TTC7A gene in 8 unrelated patients with CID-MIA and demonstrated that the TTC7A protein is expressed in the thymus. Our results strongly suggest that TTC7A gene defects cause CID-MIA.

Published
2013

40. Correction: The Complex Surgical Management of the First Case of Severe Combined Immunodeficiency and Multiple Intestinal Atresias Surviving after the Fourth Year of Life

Author

Guanà, Riccardo, primary, Garofalo, Salvatore, additional, Teruzzi, Elisabetta, additional, Vinardi, Simona, additional, Carbonaro, Giulia, additional, Cerrina, Alessia, additional, Morra, Isabella, additional, Montin, Davide, additional, Mussa, Alessandro, additional, and Schleef, Jürgen, additional

Published
2015
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41. The Complex Surgical Management of the First Case of Severe Combined Immunodeficiency and Multiple Intestinal Atresias Surviving after the Fourth Year of Life

Author

Guanà, Riccardo, primary, Garofano, Salvatore, additional, Teruzzi, Elisabetta, additional, Vinardi, Simona, additional, Carbonaro, Giulia, additional, Cerrina, Alessia, additional, Morra, Isabella, additional, Montin, Davide, additional, Mussa, Alessandro, additional, and Schleef, Jürgen, additional

Published
2014
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43. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

Author

Lanzi, Gaetana, primary, Moratto, Daniele, additional, Vairo, Donatella, additional, Masneri, Stefania, additional, Delmonte, Ottavia, additional, Paganini, Tiziana, additional, Parolini, Silvia, additional, Tabellini, Giovanna, additional, Mazza, Cinzia, additional, Savoldi, Gianfranco, additional, Montin, Davide, additional, Martino, Silvana, additional, Tovo, Pierangelo, additional, Pessach, Itai M., additional, Massaad, Michel J., additional, Ramesh, Narayanaswamy, additional, Porta, Fulvio, additional, Plebani, Alessandro, additional, Notarangelo, Luigi D., additional, Geha, Raif S., additional, and Giliani, Silvia, additional

Published
2012
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44. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016

Author

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. 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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. 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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. 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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

Published
2017
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45. Familial segregation of group B streptococcal infection in a consanguineous kindred.

Author

Licciardi, Francesco, Montin, Davide, Versace, Antonia, Migliore, Giuseppina, Tzialla, Chryssoula, Fellay, Jacques, and Borghesi, Alessandro

Subjects
*STREPTOCOCCAL diseases, *DISEASE susceptibility, *GENETIC disorders, *IMMUNODEFICIENCY, *MENDEL'S law
Abstract

Summary Two cases of neonatal group B streptococcal (GBS) infection occurring in a large consanguineous kindred are described. The observation suggests that susceptibility to isolated GBS disease in this family may have been the result of an inborn error of immunity inherited as a Mendelian autosomal recessive trait. [ABSTRACT FROM AUTHOR]

Published
2016
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46. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

Author

Lanzi, Gaetana, Moratto, Daniele, Vairo, Donatella, Masneri, Stefania, Delmonte, Ottavia, Paganini, Tiziana, Parolini, Silvia, Tabellini, Giovanna, Mazza, Cinzia, Savoldi, Gianfranco, Montin, Davide, Martino, Silvana, Tovo, Pierangelo, Pessach, Itai M., Massaad, Michel J., Ramesh, Narayanaswamy, Porta, Fulvio, Plebani, Alessandro, Notarangelo, Luigi D., Geha, Raif S., and Giliani, Silvia

Abstract

A female offspring of consanguineous parents, showed features of Wiskott-Aldrich syndrome (WAS), including recurrent infections, eczema, thrombocytopenia, defective T cell proliferation and chemotaxis, and impaired natural killer cell function. Cells from this patient had undetectable WAS protein (WASP), but normal WAS sequence and messenger RNA levels. WASP interacting protein (WIP), which stabilizes WASP, was also undetectable. A homozygous c.1301C>G stop codon mutation was found in the WIPF1 gene, which encodes WIP. Introduction of WIP into the patient’s T cells restored WASP expression. These findings indicate that WIP deficiency should be suspected in patients with features of WAS in whom WAS sequence and mRNA levels are normal.

Published
2012
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47. Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network

Author

Bruno Frediani, Laura Obici, Alessandra Renieri, Jurgen Sota, Valeria Caggiano, Francesco Licciardi, José Hernández-Rodríguez, Roberto Giacomelli, Piero Ruscitti, Antonio Vitale, Nicola Ricco, Lorenzo Dagna, Carlo Salvarani, Maria Cristina Maggio, Davide Montin, Giacomo Emmi, Alessandra Soriano, Marco Cattalini, Luca Cantarini, Ombretta Viapiana, Vittoria Lamacchia, Francesco Caso, Raffaele Manna, Antonella Insalaco, 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, Hernández-Rodríguez, José, Giacomelli, Roberto, Frediani, Bruno, Renieri, Alessandra, Cantarini, Luca, Vitale, A., Sota, J., Obici, L., Ricco, N., Maggio, M. C., Cattalini, M., Ruscitti, P., Caso, F., Manna, R., Viapiana, O., Caggiano, V., Emmi, G., Insalaco, A., Montin, D., Licciardi, F., Soriano, A., Dagna, L., Salvarani, C., Lamacchia, V., Hernandez-Rodriguez, J., Giacomelli, R., Frediani, B., Renieri, A., and Cantarini, L.

Subjects
Male, 0301 basic medicine, Eye Diseases, TRAPS,Colchicine,AIDA Network, Gene mutation, Gastroenterology, Receptors, Tumor Necrosis Factor, chemistry.chemical_compound, Settore MED/38 - Pediatria Generale E Specialistica, 0302 clinical medicine, Receptors, Pathology, RB1-214, Colchicine, Age of Onset, Young adult, Child, Amyloidosis, Syndrome, Middle Aged, Colchicine, tumor necrosis factor, TRAPS, Inflamació, Penetrance, Phenotype, Child, Preschool, Female, Joint Diseases, Research Article, Adult, Risk, medicine.medical_specialty, Adolescent, Fever, Article Subject, Immunology, Exanthema, Humans, Mutation, Myalgia, Retrospective Studies, Young Adult, Lower risk, 03 medical and health sciences, Internal medicine, medicine, Preschool, Inflammation, 030203 arthritis & rheumatology, business.industry, TRAPS, Retrospective cohort study, Cell Biology, medicine.disease, 030104 developmental biology, chemistry, Age of onset, Tumor Necrosis Factor, business
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.

Published
2020
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48. Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency

Author

Giulia Milardi, Biagio Di Lorenzo, Jolanda Gerosa, Federica Barzaghi, Gigliola Di Matteo, Maryam Omrani, Tatiana Jofra, Ivan Merelli, Matteo Barcella, Matteo Filippini, Anastasia Conti, Francesca Ferrua, Francesco Pozzo Giuffrida, Francesca Dionisio, Patrizia Rovere‐Querini, Sarah Marktel, Andrea Assanelli, Simona Piemontese, Immacolata Brigida, Matteo Zoccolillo, Emilia Cirillo, Giuliana Giardino, Maria Giovanna Danieli, Fernando Specchia, Lucia Pacillo, Silvia Di Cesare, Carmela Giancotta, Francesca Romano, Alessandro Matarese, Alfredo Antonio Chetta, Matteo Trimarchi, Andrea Laurenzi, Maurizio De Pellegrin, Silvia Darin, Davide Montin, Maddalena Marinoni, Rosa Maria Dellepiane, Valeria Sordi, Vassilios Lougaris, Angelo Vacca, Raffaella Melzi, Rita Nano, Chiara Azzari, Lucia Bongiovanni, Claudio Pignata, Caterina Cancrini, Alessandro Plebani, Lorenzo Piemonti, Constantinos Petrovas, Raffaella Di Micco, Maurilio Ponzoni, Alessandro Aiuti, Maria Pia Cicalese, Georgia Fousteri, Milardi, Giulia, Di Lorenzo, Biagio, Gerosa, Jolanda, Barzaghi, Federica, Di Matteo, Gigliola, Omrani, Maryam, Jofra, Tatiana, Merelli, Ivan, Barcella, Matteo, Filippini, Matteo, Conti, Anastasia, Ferrua, Francesca, Pozzo Giuffrida, Francesco, Dionisio, Francesca, Rovere-Querini, Patrizia, Marktel, Sarah, Assanelli, Andrea, Piemontese, Simona, Brigida, Immacolata, Zoccolillo, Matteo, Cirillo, Emilia, Giardino, Giuliana, Danieli, Maria Giovanna, Specchia, Fernando, Pacillo, Lucia, Di Cesare, Silvia, Giancotta, Carmela, Romano, Francesca, Matarese, Alessandro, Chetta, Alfredo Antonio, Trimarchi, Matteo, Laurenzi, Andrea, De Pellegrin, Maurizio, Darin, Silvia, Montin, Davide, Marinoni, Maddalena, Dellepiane, Rosa Maria, Sordi, Valeria, Lougaris, Vassilio, Vacca, Angelo, Melzi, Raffaella, Nano, Rita, Azzari, Chiara, Bongiovanni, Lucia, Pignata, Claudio, Cancrini, Caterina, Plebani, Alessandro, Piemonti, Lorenzo, Petrovas, Constantino, Di Micco, Raffaella, Ponzoni, Maurilio, Aiuti, Alessandro, Cicalese, Maria Pia, Fousteri, Georgia, and Giuffrida, Francesco Pozzo

Subjects
T cell exhaustion, B cells, B cell, T Follicular Helper Cells, Immunology, Programmed Cell Death 1 Receptor, Apoptosi, Apoptosis, T-Lymphocytes, Helper-Inducer, Common variable immunodeficiency, Common Variable Immunodeficiency, Settore MED/02, T-cell exhaustion, Immune aging, Humans, T follicular helper cells, Immunology and Allergy, T Follicular Helper Cell, immune aging, Human
Abstract

Common variable immunodeficiency (CVID) is the most frequent primary antibody deficiency whereby follicular helper T (Tfh) cells fail to establish productive responses with B cells in germinal centers. Here, we analyzed the frequency, phenotype, transcriptome and function of circulating Tfh (cTfh) cells in CVID patients displaying autoimmunity as an additional phenotype. A group of patients showed a high frequency of cTfh1 cells and a prominent expression of PD-1 and ICOS, as well as a cTfh mRNA signature consistent with highly activated, but exhausted, senescent and apoptotic cells. Plasmatic CXCL13 levels were elevated in this group and positively correlated with cTfh1 cell frequency and PD-1 levels. Monoallelic variants in RTEL1, a telomere length- and DNA repair-related gene, were identified in four patients belonging to this group. Their blood lymphocytes showed shortened telomeres, while their cTfh were more prone to apoptosis. These data point toward a novel pathogenetic mechanism in CVID, whereby alterations in DNA repair and telomere elongation might predispose to antibody deficiency. A Th1, highly activated but exhausted and apoptotic cTfh phenotype was associated with this form of CVID. This article is protected by copyright. All rights reserved.

Published
2022
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49. 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

Author

Cattalini M, Della Paolera S, Zunica F, Bracaglia C, Giangreco M, Verdoni L, Meini A, Sottile R, Caorsi R, Zuccotti G, Fabi M, Montin D, Meneghel A, Consolaro A, Dellepiane RM, Maggio MC, La Torre F, Marchesi A, Simonini G, Villani A, Cimaz R, Ravelli A, Taddio A Maria Concetta Alberelli: UOC Pediatria, Marche-Nord, Clotilde Alizzi: Department of Health Promotion Sciences Maternal and Infantile Care, Internal Medicine and Medical Specialities 'G. D’Alessandro', University of Palermo, Palermo Italy, Patrizia Barone: Unità Operativa Complessa di Broncopneumologia Pediatrica AOU 'Policlinico - Vittorio Emanuele Via Santa Sofia 78 Catania, Lucia Augusta Baselli: Pediatric Intermediate Care Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan Italy, Veronica Bennato: U. O. Pediatria, Ospedale A, Manzoni Lecco, Francesca Biscaro: UOC Pediatria, Ospedale Ca’ Foncello, Treviso, Grazia Bossi: UOC Pediatria, Fondazione IRCCS Policlinico San Matteo, Pavia Italy, Andrea Campana: Bambino Gesù Children’s Hospital, Rome Italy, Maurizio Carone: UO Malattie Infettive, Ospedale Pediatrico ‘Giovanni XXIII’, Bari Italy, Adele Civino: U. O. C. Pediatria P. O. Vito Fazzi, Lecce, Giovanni Conti: Nefrologia e Reumatologia Pediatrica con Dialisi, Azienda Ospedaliero-Universitario 'G. Martino', Eleonora Dei Rossi: University of Trieste, Trieste Italy, Emanuela Del Giudice: Department of Maternal Infantile and Urological Sciences, Sapeinza University of Rome, Polo Pontini, Alice Dell’Anna: U. O. C. Pediatria P. O. Vito Fazzi Lecce, Maia De Luca: Bambino Gesù Children’s Hospital, Piazza S. Onofrio n. 4, 00165 Rome, Italy, Enrico Felici: Pediatric and Pediatric Emergency Unit, The Children Hospital, AO SS Antonio e Biago e C. Arrigo, Alessandria Italy, Giovanni Filocamo: Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milano, Ilenia Floretta: Pediatria, Ospedale Santa Chiara, Trento Italy, Maria Loreta Foschini: SC Pediatria, PO SAN MICHELE AOBrotzu, Cagliari Italy, Marcello Lanari: Department of Pediatrics, University of Bologna, IRCCS S. Orsola-Malpighi Hospital, Bologna Italy, Bianca Lattanzi: SOD Pediatria, Ospedali Riuniti, Ancona Italy, Alessandra Lazzerotti: Clinica Pediatrica, Università Milano Bicocca, Fondazione MBBM - onlus c/o Ospedale San Gerardo, Monza Italy, Francesco Licciardi: Department of Pediatrics and Public Health, University of Turin, Turin Italy, Alessandra Manerba: Child Cardiology, ASST Spedali Civili di Brescia and University of Brescia, Brescia Italy, Savina Mannarino: Division of Cardiology, Children’s Hospital V Buzzi, ASST FBF Sacco, Achille Marino: Department of Pediatrics, Desio Hospital, ASST Monza, Desio Italy, Agostina Marolda: Pediatrics and Neonatology Dipartment, ASST Ovest Milanese, 'G. Fornaroli' Hospital, Magenta Milan, Laura Martelli: Paediatric Department, Hospital Papa Giovanni XXIII, Bergamo Italy, Giorgia Martini, Department of Woman’s and Child’s Health, University of Padova, Padua Italy, Angela Mauro: Department of Paediatrics, Emergency Department, Santobono-Pausilipon Children’s Hospital, Naples, Italy. Maria Vincenza Mastrolia: Pediatric Rheumatology Unit, AOU Meyer, University of Florence, Florence, Italy. Angelo Mazza: Paediatric Department, Angela Miniaci: Clinica Pediatrica, Reumatologia, Azienda Ospedaliero-Universitaria di Bologna, Francesca Minoia: Fondazione IRCCS Cà Granda, Alma Olivieri: Dipartimento della donna, del bambino e di chirurgia generale e specialistica, Università della Campania, 'L Vanvitelli, Napoli, Guido Pennoni: Dipartimento Materno-Infantile, Gubbio-Gualdo Tadino, Italy, Rossana Pignataro: UOC Pediatria e Neonatologia, ASST Lodi, Lodi, Francesca Ricci, Clinica Pediatrica, ASST Spedali Civili di Brescia e Università degli Studi di Brescia, Donato Rigante: Department of Pediatrics, Univarsità Cattolica Sacro Cuore, Matilde Rossi: UOC di Pediatrai e Neonatologia, Ospedale di Macerata, Macerata, Claudia Santagati: Dipartimento di Pediatria, Ospedale di Rovigo, Rovigo, Martina Soliani: Pediatria ASST Cremona, Italy, Silvia Sonego: University of Trieste, Domenico Sperlì: UOC di Pediatria, S. O. 'Annunziata' - A. O. di Cosenza, Sara Stucchi: Maternal and Child Health, Division of Paediatrics, ASST Grande Ospedale Metropolitano Niguarda, Milano Italy, Barbara Teruzzi: Maternal and Child Health, Elpidio Tierno: UOC di Pediatria, Dipartimento della Salute della Donna e del Bambin, AORN 'Sant’Anna e San Sebastiano'- Caserta, Tatiana Utytatnikova: Dipartimento Materno-Infantile, Pediatria, ASST Bergamo-EST, Seriate Bergamo, Piero Valentini, Department of Pediatrics, Gianluca Vergine, UOC Pediatria Rimini, Ospedale Infermi, ASL Romagna, Rimini Italy., 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, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, Taddio, Andrea, Cattalini, M, Della Paolera, S, Zunica, F, Bracaglia, C, Giangreco, M, Verdoni, L, Meini, A, Sottile, R, Caorsi, R, Zuccotti, G, Fabi, M, Montin, D, Meneghel, A, Consolaro, A, Dellepiane, Rm, Maggio, Mc, La Torre, F, Marchesi, A, Simonini, G, Villani, A, Cimaz, R, Ravelli, A, Taddio, A Maria Concetta Alberelli: UOC Pediatria, Marche-Nord, Clotilde Alizzi: Department of Health Promotion Sciences Maternal and Infantile, Care, Internal Medicine and Medical Specialities 'G., D’Alessandro', University of, Palermo, Palermo, Italy, Patrizia Barone: Unità Operativa Complessa di Broncopneumologia Pediatrica AOU 'Policlinico, - Vittorio Emanuele Via Santa Sofia 78 Catania, Lucia Augusta Baselli: Pediatric Intermediate Care, Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore, Policlinico, Milan, Italy, Veronica Bennato: U. O., Pediatria, Ospedale, A, Manzoni, Lecco, Francesca Biscaro: UOC, Pediatria, Ospedale Ca’, Foncello, Treviso, Grazia Bossi: UOC, Pediatria, Fondazione IRCCS Policlinico San, Matteo, Pavia, Italy, Andrea Campana: Bambino Gesù Children’s, Hospital, Rome, Italy, Maurizio Carone: UO Malattie, Infettive, Ospedale Pediatrico ‘Giovanni, Xxiii’, Bari, Italy, Adele Civino: U. O. C. Pediatria P. O. Vito Fazzi, Lecce, Giovanni Conti: Nefrologia e Reumatologia Pediatrica con Dialisi, Azienda Ospedaliero-Universitario 'G. Martino', Eleonora Dei Rossi: University of, Trieste, Trieste, Italy, Emanuela Del Giudice: Department of Maternal Infantile and Urological, Science, Sapeinza University of, Rome, Polo, Pontini, Alice Dell’Anna: U. O. C. Pediatria P. O., Vito Fazzi Lecce, Maia De Luca: Bambino Gesù Children’s, Hospital, Piazza, S. Onofrio n. 4., 00165, Rome, Italy, Enrico Felici: Pediatric and Pediatric Emergency, Unit, The Children, Hospital, AO SS Antonio e Biago e C., Arrigo, Alessandria, Italy, Giovanni Filocamo: Fondazione IRCCS Cà, Granda, Ospedale Maggiore, Policlinico, Milano, Ilenia Floretta:, Pediatria, Ospedale Santa, Chiara, Trento, Italy, Maria Loreta Foschini: SC, Pediatria, PO SAN MICHELE, Aobrotzu, Cagliari, Italy, Marcello Lanari: Department of, Pediatric, University of, Bologna, IRCCS S., Orsola-Malpighi Hospital, Bologna, Italy, Bianca Lattanzi: SOD, Pediatria, Ospedali, Riuniti, Ancona, Italy, Alessandra Lazzerotti: Clinica, Pediatrica, Università Milano, Bicocca, Fondazione MBBM, - onlus c/o Ospedale San Gerardo, Monza, Italy, Francesco Licciardi: Department of Pediatrics and Public, Health, University of, Turin, Turin, Italy, Alessandra Manerba: Child, Cardiology, ASST Spedali Civili di Brescia and University of, Brescia, Brescia, Italy, Savina Mannarino: Division of, Cardiology, Children’s Hospital, V Buzzi, ASST FBF, Sacco, Achille Marino: Department of, Pediatric, Desio, Hospital, Asst, Monza, Desio, Italy, Agostina Marolda: Pediatrics and Neonatology, Dipartment, ASST Ovest, Milanese, 'G., Fornaroli' Hospital, Magenta, Milan, Laura Martelli: Paediatric, Department, Hospital Papa Giovanni, Xxiii, Bergamo, Italy, Giorgia, Martini, Department of Woman’s and Child’s, Health, University of, Padova, Padua, Italy, Angela Mauro: Department of, Paediatric, Emergency, Department, Santobono-Pausilipon Children’s, Hospital, Naples, Italy., Maria Vincenza Mastrolia: Pediatric Rheumatology Unit, Aou, Meyer, University of, Florence, Florence, Italy., Angelo Mazza: Paediatric Department, Angela Miniaci: Clinica, Pediatrica, Reumatologia, Azienda Ospedaliero-Universitaria di, Bologna, Francesca Minoia: Fondazione IRCCS Cà, Granda, Alma Olivieri: Dipartimento della, Donna, del bambino e di chirurgia generale, e specialistica, Università della, Campania, 'L, Vanvitelli, Napoli, Claudio, Guido Pennoni: Dipartimento, Materno-Infantile, Gubbio-Gualdo Tadino, Italy, Rossana Pignataro: UOC Pediatria, e Neonatologia, Asst, Lodi, Lodi, Francesca, Ricci, Clinica, Pediatrica, ASST Spedali Civili di Brescia, e Università degli Studi di Brescia, Donato Rigante: Department of, Pediatric, Univarsità Cattolica Sacro, Cuore, Matilde Rossi: UOC di Pediatrai, e Neonatologia, Ospedale di, Macerata, Macerata, Claudia Santagati: Dipartimento di, Pediatria, Ospedale di, Rovigo, Rovigo, Martina Soliani: Pediatria ASST Cremona, Italy, Silvia Sonego: University of, Trieste, Domenico Sperlì: UOC di Pediatria, S. O. 'Annunziata' - A. O. di Cosenza, Sara Stucchi: Maternal and Child, Health, Division of, Paediatric, ASST Grande Ospedale Metropolitano, Niguarda, Milano, Italy, Barbara Teruzzi: Maternal and Child, Health, Elpidio Tierno: UOC di, Pediatria, Dipartimento della Salute della Donna, e del Bambin, AORN 'Sant’Anna, e San Sebastiano'- Caserta, Tatiana Utytatnikova: Dipartimento, Materno-Infantile, Pediatria, Asst, Bergamo-EST, Seriate, Bergamo, Piero, Valentini, Department of, Pediatric, Gianluca, Vergine, UOC Pediatria, Rimini, Ospedale, Infermi, Asl, Romagna, Rimini, Italy., Cattalini M., Della Paolera S., Zunica F., Bracaglia C., Giangreco M., Verdoni L., Meini A., Sottile R., Caorsi R., Zuccotti G., Fabi M., Montin D., Meneghel A., Consolaro A., Dellepiane R.M., Maggio M.C., La Torre F., Marchesi A., Simonini G., Villani A., Cimaz R., Ravelli A., Taddio A., Adamoli P., Alberelli M.C., Alizzi C., Barone P., Bennato V., Biscaro F., Bossi G., Campana A., Carone M., Civino A., Conti G., Rossi E.D., Del Giudice E., Dell'Anna A., De Luca M., Felici E., Filocamo G., Floretta I., Foschini M.L., Lanari M., Lattanzi B., Lazzerotti A., Licciardi F., Manerba A., Mannarino S., Marino A., Marolda A., Martelli L., Martini G., Mauro A., Mastrolia M.V., Mazza A., Miniaci A., Minoia F., Olivieri A., Pennoni G., Pignataro R., Ricci F., Rigante D., Rossi M., Santagati C., Soliani M., Sonego S., Sperli D., Stucchi S., Teruzzi B., Tierno E., Utytatnikova T., Valentini P., and Vergine G.

Subjects
Coronary artery abnormalities, Hypotension, Kawasaki disease, Multisystem inflammatory syndrome associated with coronavirus disease, Myocarditis, Pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection, SARS-CoV-2, Age Distribution, Antirheumatic Agents, Aspirin, C-Reactive Protein, COVID-19, Child, Child, Preschool, Coronary Artery Disease, Cough, Diarrhea, Dyspnea, Female, Glucocorticoids, Heart Failure, Humans, Hyperferritinemia, Immunoglobulins, Intravenous, Immunologic Factors, Infant, Intensive Care Units, Pediatric, Interleukin 1 Receptor Antagonist Protein, Italy, Lymphopenia, Male, Mucocutaneous Lymph Node Syndrome, Platelet Aggregation Inhibitors, Shock, Systemic Inflammatory Response Syndrome, Tachypnea, Troponin T, Vomiting, lcsh:Diseases of the musculoskeletal system, coronary artery abnormalities, hypotension, kawasaki disease, multisystem inflammatory syndrome associated with coronavirus disease, myocarditis, pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection, age distribution, antirheumatic agents, aspirin, C-reactive protein, child, preschool, coronary artery disease, cough, diarrhea, yspnea, female, glucocorticoids, heart failure, humans, hyperferritinemia, immunoglobulins, intravenous, immunologic factors, infant, intensive care units, pediatric, interleukin 1 receptor antagonist protein, italy, lymphopenia, male, mucocutaneous lymph node syndrome, platelet aggregation inhibitors, shock, systemic inflammatory response syndrome, tachypnea, troponin T, vomiting, Myocarditi, 030204 cardiovascular system & hematology, SARS-CoV-2, Kawasaki disease, Pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection, Myocarditis, Hypotension, Multisystem inflammatory syndrome associated with coronavirus disease, Coronary artery abnormalities, Coronary artery disease, Settore MED/38 - Pediatria Generale E Specialistica, 0302 clinical medicine, Glucocorticoid, Immunologic Factor, Immunology and Allergy, Coronary artery abnormalitie, Fisher's exact test, Pediatric, biology, lcsh:RJ1-570, Antirheumatic Agent, Settore MED/38, Intensive Care Units, Cohort, symbols, Platelet aggregation inhibitor, Intravenous, Human, Research Article, medicine.medical_specialty, Immunoglobulins, 03 medical and health sciences, symbols.namesake, Rheumatology, Internal medicine, medicine, Preschool, 030203 arthritis & rheumatology, business.industry, Platelet Aggregation Inhibitor, lcsh:Pediatrics, medicine.disease, Systemic inflammatory response syndrome, Immunoglobulins, Intravenou, Pediatrics, Perinatology and Child Health, biology.protein, lcsh:RC925-935, business
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 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.

Published
2020

50. Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: analysis by the Pharmachild Safety Adjudication Committee

Author

Giancane G1, Swart JF2, Castagnola E3, Groll AH4, Horneff G5, 6, Huppertz HI7, Lovell DJ8, Wolfs T2, Herlin T9, Dolezalova P10, Sanner H11, Susic G13, Sztajnbok F14, Maritsi D15, Constantin T16, Vargova V17, Sawhney S18, Rygg M19, K Oliveira S21, Cattalini M22, Bovis F1, Bagnasco F1, Pistorio A23, Martini A24, Wulffraat N2, Ruperto N25, Paediatric Rheumatology International Trials Organisation (PRINTO). Cuttica R, Garay SM, Brunner J, Emminger W, Appenzeller S, Len C, Saad Magalhaes C, Telcharova-Mihaylovska A, Harjacek M, Jelusic M, Estmann A, Nielsen S, Herrera Mora C, Gervais E, Koné-Paut I, Quartier P, Foeldvari I, Horneff G, Lutz T, Minden K, Tzaribachev N, Trachana M, Tsitsami E, Vougiouka O, Orban I, Harel L, Hashkes P, Uziel Y, Cimaz R, Civino A, Consolini R, D'Angelo G, De Benedetti F, Filocamo G, Fueri E, Gallizzi R, Maggio MC, Magnolia MG, Miniaci A, Montin D, Olivieri A. N., Pastore S, Rigante D, Zulian F, Rumba-Rozenfelde I, Stanevicha V, Panaviene V, Rodriguez Lozano AL, Rubio-Perez N, Vega Cornejo G, Hoppenreijs E, Kamphuis S, Flato B, Nordal EB, Abdwani R, Miraval T, Paz Gastanaga ME, Smolewska E, Ailioaie C, Cochino AV, Laday M, Lazar C, Alexeeva E, Chasnyk V, Keltsev V, Suwairi WMS, Vijatov-Djuric G, Vojinovic J, Arkachaisri T, Koskova E, Avcin T, Ally M, Van Rensburg CJ, Louw I, Lopez JA, Boteanu AL, Calvo Penades I, De Inocencio J, Mesa-Del-Castillo P, Moreno E, Remesal A, Hofer M, Gok F, Ozen S, Ramanan A, Pallotti C, Villa L., Giancane, G1, Swart, Jf2, Castagnola, E3, Groll, Ah4, Horneff, G5, Huppertz, Hi7, Lovell, Dj8, Wolfs, T2, Herlin, T9, Dolezalova, P10, Sanner, H11, Susic, G13, Sztajnbok, F14, Maritsi, D15, Constantin, T16, Vargova, V17, Sawhney, S18, Rygg, M19, K Oliveira, S21, Cattalini, M22, Bovis, F1, Bagnasco, F1, Pistorio, A23, Martini, A24, Wulffraat, N2, Ruperto, N25, Paediatric Rheumatology International Trials Organisation (PRINTO)., Cuttica R, Garay, Sm, Brunner, J, Emminger, W, Appenzeller, S, Len, C, Saad Magalhaes, C, Telcharova-Mihaylovska, A, Harjacek, M, Jelusic, M, Estmann, A, Nielsen, S, Herrera Mora, C, Gervais, E, Koné-Paut, I, Quartier, P, Foeldvari, I, Horneff, G, Lutz, T, Minden, K, Tzaribachev, N, Trachana, M, Tsitsami, E, Vougiouka, O, Orban, I, Harel, L, Hashkes, P, Uziel, Y, Cimaz, R, Civino, A, Consolini, R, D'Angelo, G, De Benedetti, F, Filocamo, G, Fueri, E, Gallizzi, R, Maggio, Mc, Magnolia, Mg, Miniaci, A, Montin, D, Olivieri, A. N., Pastore, S, Rigante, D, Zulian, F, Rumba-Rozenfelde, I, Stanevicha, V, Panaviene, V, Rodriguez Lozano, Al, Rubio-Perez, N, Vega Cornejo, G, Hoppenreijs, E, Kamphuis, S, Flato, B, Nordal, Eb, Abdwani, R, Miraval, T, Paz Gastanaga, Me, Smolewska, E, Ailioaie, C, Cochino, Av, Laday, M, Lazar, C, Alexeeva, E, Chasnyk, V, Keltsev, V, Suwairi, Wm, Vijatov-Djuric, G, Vojinovic, J, Arkachaisri, T, Koskova, E, Avcin, T, Ally, M, Van Rensburg, Cj, Louw, I, Lopez, Ja, Boteanu, Al, Calvo Penades, I, De Inocencio, J, Mesa-Del-Castillo, P, Moreno, E, Remesal, A, Hofer, M, Gok, F, Ozen, S, Ramanan, A, Pallotti, C, Villa, L., Giancane, Gabriella, Swart, Joost F, Castagnola, Elio, Groll, Andreas H, Horneff, Gerd, Huppertz, Hans-Iko, Lovell, Daniel J, Wolfs, Tom, Herlin, Troel, Dolezalova, Pavla, Sanner, Helga, Susic, Gordana, Sztajnbok, Flavio, Maritsi, Despoina, Constantin, Tama, Vargova, Veronika, Sawhney, Sujata, Rygg, Marite, K Oliveira, Sheila, Cattalini, Marco, Bovis, Francesca, Bagnasco, Francesca, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Cuttica, Ruben, Garay, Stella Mari, Brunner, Jurgen, Emminger, Wolfgang, Appenzeller, Simone, Len, Claudio, Saad Magalhaes, Claudia, Telcharova-Mihaylovska, Albena, Harjacek, Miroslav, Jelusic, Marija, Estmann, Anne, Nielsen, Susan, Herrera Mora, Cristina, Gervais, Elisabeth, Koné-Paut, Isabelle, Quartier, Pierre, Foeldvari, Ivan, Lutz, Thoma, Minden, Kirsten, Tzaribachev, Nikolay, Trachana, Maria, Tsitsami, Elena, Vougiouka, Olga, Orban, Ilonka, Harel, Liora, Hashkes, Philip, Uziel, Yosef, Cimaz, Rolando, Civino, Adele, Consolini, Rita, D'Angelo, Gianfranco, De Benedetti, Fabrizio, Filocamo, Giovanni, Fueri, Elena, Gallizzi, Romina, Maggio, Maria Cristina, Magnolia, Maria Greca, Miniaci, Angela, Montin, Davide, Olivieri, Alma Nunzia, Pastore, Serena, Rigante, Donato, Zulian, Francesco, Rumba-Rozenfelde, Ingrida, Stanevicha, Valda, Panaviene, Violeta, Rodriguez Lozano, Ana Luisa, Rubio-Perez, Nadina, Vega Cornejo, Gabriel, Hoppenreijs, Esther, Kamphuis, Sylvia, Flato, Berit, Nordal, Ellen Berit, Abdwani, Reem, Miraval, Tatiana, Paz Gastanaga, Maria Eliana, Smolewska, Elzbieta, Ailioaie, Constantin, Cochino, Alexis-Virgil, Laday, Matilda, Lazar, Calin, Alexeeva, Ekaterina, Chasnyk, Vyacheslav, Keltsev, Vladimir, Suwairi, Wafaa Mohammed Saad, Vijatov-Djuric, Gordana, Vojinovic, Jelena, Arkachaisri, Thaschawee, Koskova, Elena, Avcin, Tadej, Ally, Mahmood, Van Rensburg, Christa Janse, Louw, Ingrid, Lopez, Jordi Anton, Boteanu, Alina Lucica, Calvo Penades, Inmaculada, De Inocencio, Jaime, Mesa-Del-Castillo, Pablo, Moreno, Estefania, Remesal, Agustin, Hofer, Michael, Gok, Faysal, Ozen, Seza, Ramanan, Athimalaipet, Pallotti, Chiara, Villa, Luca, and Pediatrics

Subjects
Male, lcsh:Diseases of the musculoskeletal system, Biologic, Paediatrics: 760 [VDP], Artritis infecciosa, MedDRA, Infants malalts, Arthritis, Severity of Illness Index, Hospital patients, Cohort Studies, Pharmacovigilance, 0302 clinical medicine, 030212 general & internal medicine, Registries, Child, Biologics, Immunosuppressive therapy, Infections, Juvenile idiopathic arthritis, Opportunistic, biologics, immunosuppressive therapy, infections, juvenile idiopathic arthritis, opportunistic, Barneleddgikt, 3. Good health, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Antirheumatic Agents, Child, Preschool, Cohort, Pediatric Infectious Disease, Female, Infection, Research Article, medicine.medical_specialty, Tuberculosis, juvenil idiopathic arthritis, Opportunistic Infections, Herpes Zoster, 03 medical and health sciences, Immunocompromised Host, Juvenile idiopathic arthriti, Internal medicine, medicine, Humans, book, 030203 arthritis & rheumatology, Malalts hospitalitzats, Immunosupressió, business.industry, Sick children, medicine.disease, Rheumatology, Arthritis, Juvenile, Infectious arthritis, Pediatri: 760 [VDP], Orthopedic surgery, Opportunistiske infeksjoner, book.journal, lcsh:RC925-935, business, Infeccions oportunistes, Immunosuppression
Abstract

Background: To derive a list of opportunistic infections (OI) through the analysis of the juvenile idiopathic arthritis (JIA) patients in the Pharmachild registry by an independent Safety Adjudication Committee (SAC). Methods: The SAC (3 pediatric rheumatologists and 2 pediatric infectious disease specialists) elaborated and approved by consensus a provisional list of OI for use in JIA. Through a 5 step-procedure, all the severe and serious infections, classified as per MedDRA dictionary and retrieved in the Pharmachild registry, were evaluated by the SAC by answering six questions and adjudicated with the agreement of 3/5 specialists. A final evidence-based list of OI resulted by matching the adjudicated infections with the provisional list of OI. Results: A total of 772 infectious events in 572 eligible patients, of which 335 serious/severe/very severe non-OI and 437 OI (any intensity/severity), according to the provisional list, were retrieved. Six hundred eighty-two of 772 (88.3%) were adjudicated as infections, of them 603/682 (88.4%) as common and 119/682 (17.4%) as OI by the SAC. Matching these 119 opportunistic events with the provisional list, 106 were confirmed by the SAC as OI, and among them infections by herpes viruses were the most frequent (68%), followed by tuberculosis (27.4%). The remaining events were divided in the groups of non-OI and possible/patient and/or pathogen-related OI. Conclusions: We found a significant number of OI in JIA patients on immunosuppressive therapy. The proposed list of OI, created by consensus and validated in the Pharmachild cohort, could facilitate comparison among future pharmacovigilance studies. © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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2020
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