Author: "Francesco Licciardi" / Topic: 0302 clinical medicine - Searchworks@Jio Institute Digital Library Search Results

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21 results on '"Francesco Licciardi"'

1. 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

2. 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

3. Peculiar immunophenotypic signature in MIS‐C‐affected children

Author: Francesco Licciardi, Marco Denina, Marta Dellepiane, Letizia Baldini, Enrico Felici, Carlotta Covizzi, Emanuela Ricotti, Marisa Zoppo, Davide Montin, and Federica Mignone
Subjects: Child, Humans, Immunophenotyping, SARS-CoV-2, COVID-19, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Immunology, Systemic inflammation, Virus, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Immune system, hemic and lymphatic diseases, Medicine, Immunology and Allergy, 030212 general & internal medicine, Pediatrics, Perinatology, and Child Health, skin and connective tissue diseases, Clinical syndrome, business.industry, fungi, body regions, Specific antibody, 030228 respiratory system, Pediatrics, Perinatology and Child Health, medicine.symptom, business
Abstract: Since April 2020, an increasing number of authors have reported a new clinical syndrome related to SARS-COV2 infection in children, characterized by rapidly progressive systemic inflammation with multiorgan dysfunction. This syndrome has been addressed with many names since its description such as Multisystem Inflammatory Syndrome in children (MIS-C), Pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-ST), and SARS-CoV-2-Induced Kawasaki-Like Hyperinflammatory Syndrome (SCiKH).1-3 The pathogenesis of MIS-C is still unknown, even if the positivity of a nasopharyngeal RT-PCR assay for the SARS-COV2 and/or of specific antibody testing in most patients suggests that this syndrome develops while the immune system is activated against the SARS-COV2 virus.
Published: 2021
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4. Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes

Author: Raffaele Buganza, Davide Montin, Gerdi Tuli, Luisa de Sanctis, P Matarazzo, Andrea Carpino, Francesco Licciardi, Pier Luigi Calvo, and Michele Pinon
Subjects: Male, 0301 basic medicine, Adolescent, lcsh:QH426-470, genotype, Case Report, 030209 endocrinology & metabolism, Autoimmune polyendocrinopathy, Candidiasis, Ectodermal dystrophy (APECED), AIRE gene, Phenotype correlation, COVID-19, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Mutation, Phenotype, Polyendocrinopathies, Autoimmune, Siblings, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Genotype, Genetics, medicine, Epigenetics, Chronic mucocutaneous candidiasis, Preschool, Genetics (clinical), Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), business.industry, Dystrophy, genotype–phenotype correlation, Newborn, medicine.disease, lcsh:Genetics, 030104 developmental biology, Polyendocrinopathies, Hypoparathyroidism, Immunology, business, Autoimmune
Abstract: Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), caused by mutations in the AIRE gene, is mainly characterized by the triad of hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidiasis, but can include many other manifestations, with no currently clear genotype–phenotype correlation. We present the clinical features of two siblings, a male and a female, with the same mutations in the AIRE gene associated with two very different phenotypes. Interestingly, the brother recently experienced COVID-19 infection with pneumonia, complicated by hypertension, hypokalemia and hypercalcemia. Although APECED is a monogenic disease, its expressiveness can be extremely different. In addition to the genetic basis, epigenetic and environmental factors might influence the phenotypic expression, although their exact role remains to be elucidated.
Published: 2021

5. Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency

Author: Kathleen E. Sullivan, Paul Gray, Debayan Dey, Lars M. Koenig, Daniel F. R. Boehmer, Davide Montin, Matthias Griese, Tomohiro Morio, Tsubasa Okano, Hirokazu Kanegane, Thomas Magg, Francesco Licciardi, Samantha L. Schwartz, Julia Ley-Zaporozhan, Andrés Caballero-Oteyza, Meino Rohlfs, Karl Reiter, Esther N. Park, Jennifer Heimall, Kazutoshi Cho, Michael H. Albert, Brenda M. Calderon, Kento Inoue, Christoph Walz, Christoph Klein, Fabian Hauck, Ronald M. Ferdman, and Graeme L. Conn
Subjects: 0301 basic medicine, Heterozygote, RNase P, 2',5'-Oligoadenylate Synthetase, B-Lymphocytes, Cells, Cultured, DNA Mutational Analysis, Endoribonucleases, Enzyme Assays, Gain of Function Mutation, Gene Knockout Techniques, Hematopoietic Stem Cell Transplantation, Hereditary Autoinflammatory Diseases, Humans, Infant, Infant, Newborn, Interferon Type I, Macrophages, Molecular Dynamics Simulation, Monocytes, Primary Cell Culture, Primary Immunodeficiency Diseases, Recombinant Proteins, Signal Transduction, Cells, Immunology, 03 medical and health sciences, 0302 clinical medicine, Immunity, medicine, Macrophage, Immunodeficiency, B cell, Cultured, biology, Monocyte, General Medicine, medicine.disease, Newborn, Transplantation, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, biology.protein, 2', Ribonuclease L, 5'-Oligoadenylate Synthetase
Abstract: Analysis of autoinflammatory and immunodeficiency disorders elucidates human immunity and fosters the development of targeted therapies. Oligoadenylate synthetase 1 is a type I interferon-induced, intracellular double-stranded RNA (dsRNA) sensor that generates 2'-5'-oligoadenylate to activate ribonuclease L (RNase L) as a means of antiviral defense. We identified four de novo heterozygous OAS1 gain-of-function variants in six patients with a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinemia. To establish causality, we applied genetic, molecular dynamics simulation, biochemical, and cellular functional analyses in heterologous, autologous, and inducible pluripotent stem cell-derived macrophages and/or monocytes and B cells. We found that upon interferon-induced expression, OAS1 variant proteins displayed dsRNA-independent activity, which resulted in RNase L-mediated RNA cleavage, transcriptomic alteration, translational arrest, and dysfunction and apoptosis of monocytes, macrophages, and B cells. RNase L inhibition with curcumin modulated and allogeneic hematopoietic cell transplantation cured the disorder. Together, these data suggest that human OAS1 is a regulator of interferon-induced hyperinflammatory monocyte, macrophage, and B cell pathophysiology.
Published: 2021

6. Antimicrobial stewardship experience in paediatrics: first-year activity report

Author: Francesca Cusenza, Silvia Garazzino, Francesco Licciardi, Raffaella Marino, Carlo Scolfaro, Erika Silvestro, Marco Denina, Giulia Pruccoli, and Gianfranco De Intinis
Subjects: 0301 basic medicine, Microbiology (medical), Male, Pediatrics, medicine.medical_specialty, Adolescent, 030106 microbiology, Psychological intervention, Drug Prescriptions, Tertiary Care Centers, 03 medical and health sciences, Antimicrobial Stewardship, 0302 clinical medicine, Antibiotic resistance, Medical microbiology, Drug Resistance, Multiple, Bacterial, medicine, Antimicrobial stewardship, Humans, 030212 general & internal medicine, Child, business.industry, Public health, Infant, Newborn, Infant, Retrospective cohort study, General Medicine, Bacterial Infections, Discontinuation, Infectious Diseases, Child, Preschool, Female, business, De-escalation
Abstract: Antimicrobial resistance is one of the most relevant threats in public health worldwide. Strategies as antimicrobial stewardship programs, aiming to preserve our antibiotic armamentarium, have been implemented since 2007 in adult and paediatric patients. We aim to describe the first experience of a paediatric antimicrobial stewardship program. We conducted a retrospective observational study in a tertiary care children's hospital. A team composed of a microbiologist, an infectious diseases physician, and a paediatrician led the project. All positive blood and cerebrospinal fluid cultures and other biological samples yielding multi-drug-resistant bacteria were collected and reviewed through a prospective-audit-with-feedback strategy. We recorded patient characteristics and worth monitoring prescribed antibiotics. The antimicrobial stewardship audit could end in intervention (step-up/step-down and broadening/narrowing) or recommendation(s). We then checked out wards staff compliance. The team performed 192 interventions out of 584 reviews, mostly suggesting discontinuation of antibiotics (in 76.0% of cases and 39.7% of running molecules). The antibiotic spectrum was more likely tapered than expanded (p < 0.0001), and we ordered more narrow-spectrum antibiotic molecules than local medical staff straightaway did (p = 0.0113). Interventions were most likely needed in case of documented infections (p < 0.0001) and in surgical patients (p = 0.0002). In 85.9% of interventions, ward teams fully agreed with our argument. This study demonstrated an antimicrobial stewardship program to be a suitable method for improving the appropriateness of antimicrobial use in hospitalized children.
Published: 2021

7. COVID-19 and what pediatric rheumatologists should know: a review from a highly affected country

Author: Francesco Licciardi, Letizia Baldini, Teresa Giani, Rolando Cimaz, Roberto Caporali, and Ennio Giulio Favalli
Subjects: 0301 basic medicine, lcsh:Diseases of the musculoskeletal system, Anti-Inflammatory Agents, Juvenile, Disease, Review, 0302 clinical medicine, Pandemic, Immunology and Allergy, Viral, 030212 general & internal medicine, Child, Children, Clinical Trials as Topic, Anti-Inflammatory Agents, Non-Steroidal, lcsh:RJ1-570, Chloroquine, 2019-nCoV, COVID-19, Italy, Respiratory syndrome, SARS-CoV-2, Adolescent, Antirheumatic Agents, Arthritis, Juvenile, Betacoronavirus, Child, Preschool, Coronavirus Infections, Cytokine Release Syndrome, Humans, Hydroxychloroquine, Infant, Interleukin-6, Pandemics, Pneumonia, Viral, Rheumatic Diseases, Pediatricians, Rheumatologists, Multiorgan failure, Non-Steroidal, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), World health, 03 medical and health sciences, Rheumatology, Internal medicine, medicine, Preschool, Intensive care medicine, business.industry, Arthritis, lcsh:Pediatrics, Pneumonia, medicine.disease, COVID-19 Drug Treatment, 030104 developmental biology, Pediatrics, Perinatology and Child Health, lcsh:RC925-935, Cytokine storm, business
Abstract: On March 11th, 2020 the World Health Organization declared COVID-19 a global pandemic. The infection, transmitted by 2019 novel coronavirus (2019-nCov), was first discovered in December 2019, in Wuhan, Hubei Province, and then rapidly spread worldwide. Italy was early and severely involved, with a critical spread of the infection and a very high number of victims. Person-to-person spread mainly occurs via respiratory droplets and contact. The median incubation period is 5 days. The spectrum of respiratory symptoms may range from mild to severe, strictly depending on the age of the patient and the underlying comorbidities.In children COVID-19 related disease is less frequent and less aggressive. In Italy 1% of positive cases are under 18 years of age, and no deaths have been recorded before 29 years of age. For patients affected by rheumatic disease, despite the concerns related to the imbalance of their immune response and the effect of immunosuppressive treatments, there are still few data to understand the real consequences of this infection. Major scientific societies have issued recommendations to help rheumatologists in caring their patients. Interestingly, some of the drugs mostly used by rheumatologists appear to be promising in critical COVID-19 infected patients, where the hyperinflammation and cytokine storm seem to drive to the multiorgan failure.Pediatric rheumatologists are expected to play a supporting role in this new front ofCOVID-19 pandemic, both as general pediatricians treating infected children, and as rheumatologists taking care of their rheumatic patients, as well as offering their experience in the possible alternative use of immunomodulatory drugs.
Published: 2020

8. SARS-CoV-2-Induced Kawasaki-Like Hyperinflammatory Syndrome: A Novel COVID Phenotype in Children

Author: Francesco Licciardi, Davide Montin, Emilia Parodi, Marco Denina, Manuela Taglietto, Giulia Pruccoli, and Sergio Rosati
Subjects: Erythema, viruses, Mucocutaneous zone, medicine.disease_cause, 03 medical and health sciences, Betacoronavirus, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Hypoalbuminemia, Viral, skin and connective tissue diseases, Child, Pandemics, Coronavirus, biology, business.industry, SARS-CoV-2, COVID-19, Shock, Pneumonia, medicine.disease, Cardiogenic, Phenotype, Immunoglobulin M, Macrophage activation syndrome, Shock, Cardiogenic, Coronavirus Infections, Pneumonia, Viral, Pediatrics, Perinatology and Child Health, Immunology, biology.protein, Kawasaki disease, medicine.symptom, business, Capillary Leak Syndrome
Abstract: We describe 2 children with persistent fever and profuse diarrhea who developed signs of mucocutaneous involvement (conjunctivitis, fissured lips, skin rash, erythema, and edema of the hands and feet). Blood tests revealed elevated markers of inflammation, lymphopenia, thrombocytopenia, and complement consumption. Afterward, diffuse edema with hypoalbuminemia appeared in the context of a capillary leak syndrome. In both patients, repeated nasal swabs were negative for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), but each patient had high titers of immunoglobulin G and immunoglobulin M against the SARS-CoV-2 virus. The negative PCR results in the presence of immunoglobulin M and immunoglobulin G suggested that the inflammatory response developed in the late phase of viral infection, when SARS-CoV-2 was not detectable in the upper airway. In this report, we describe patients with what we propose to name as SARS-CoV-2–induced Kawasaki-like hyperinflammatory syndrome. SARS-CoV-2–induced Kawasaki-like hyperinflammatory syndrome seems to be caused by a delayed response to SARS-CoV-2. It resembles Kawasaki disease complicated by macrophage activation syndrome, although it has peculiar features, such as prodromal diarrhea, capillary leak syndrome, and myocardial dysfunction. Intravenous corticosteroid treatment appears to be helpful.
Published: 2020

9. COVID-19 in Children: Expressions of Type I/II/III Interferons, TRIM28, SETDB1, and Endogenous Retroviruses in Mild and Severe Cases

Author: Giulia Pruccoli, Massimiliano Bergallo, Carla Alliaudi, Francesco Licciardi, Pier-Angelo Tovo, Silvia Garazzino, Cristina Calvi, Carlo Scolfaro, Ugo Ramenghi, Ilaria Galliano, Valentina Daprà, Marco Denina, Marisa Zoppo, and Federica Mignone
Subjects: Male, 0301 basic medicine, viruses, Endogenous retrovirus, human endogenous retroviruses, Disease, Tripartite Motif-Containing Protein 28, Severity of Illness Index, Interferon Lambda, 0302 clinical medicine, Retrovirus, Interferon, SETDB1, Medicine, Interferon gamma, Biology (General), Child, Spectroscopy, biology, interferon, General Medicine, Computer Science Applications, Chemistry, Italy, 030220 oncology & carcinogenesis, Interferon Type I, Female, medicine.drug, QH301-705.5, Human endogenous retro-viruses, Article, Catalysis, Inorganic Chemistry, Interferon-gamma, 03 medical and health sciences, Immune system, children, Humans, Physical and Theoretical Chemistry, QD1-999, Molecular Biology, Gene, SARS-CoV-2, business.industry, TRIM28, Endogenous Retroviruses, Organic Chemistry, COVID-19, Children, Histone-Lysine N-Methyltransferase, biology.organism_classification, 030104 developmental biology, Case-Control Studies, Immunology, Interferons, business, Interferon type I
Abstract: Children with the new coronavirus disease 2019 (COVID-19) have milder symptoms and a better prognosis than adult patients. Several investigations assessed type I, II, and III interferon (IFN) signatures in SARS-CoV-2 infected adults, however no data are available for pediatric patients. TRIM28 and SETDB1 regulate the transcription of multiple genes involved in the immune response as well as of human endogenous retroviruses (HERVs). Exogenous viral infections can trigger the activation of HERVs, which in turn can induce inflammatory and immune reactions. Despite the potential cross-talks between SARS-CoV-2 infection and TRIM28, SETDB1, and HERVs, information on their expressions in COVID-19 patients is lacking. We assessed, through a PCR real time Taqman amplification assay, the transcription levels of six IFN-I stimulated genes, IFN-II and three of its sensitive genes, three IFN-lIIs, as well as of TRIM28, SETDB1, pol genes of HERV-H, -K, and -W families, and of env genes of Syncytin (SYN)1, SYN2, and multiple sclerosis-associated retrovirus (MRSV) in peripheral blood from COVID-19 children and in control uninfected subjects. Higher expression levels of IFN-I and IFN-II inducible genes were observed in 36 COVID-19 children with mild or moderate disease as compared to uninfected controls, whereas their concentrations decreased in 17 children with severe disease and in 11 with multisystem inflammatory syndrome (MIS-C). Similar findings were found for the expression of TRIM-28, SETDB1, and every HERV gene. Positive correlations emerged between the transcriptional levels of type I and II IFNs, TRIM28, SETDB1, and HERVs in COVID-19 patients. IFN-III expressions were comparable in each group of subjects. This preserved induction of IFN-λs could contribute to the better control of the infection in children as compared to adults, in whom IFN-III deficiency has been reported. The upregulation of IFN-I, IFN-II, TRIM28, SETDB1, and HERVs in children with mild symptoms, their declines in severe cases or with MIS-C, and the positive correlations of their transcription in SARS-CoV-2-infected children suggest that they may play important roles in conditioning the evolution of the infection.
Published: 2021

10. Low synovial double negative T and γδ T cells predict longer free-disease survival in oligoarticular JIA

Author: Emanuela Ricotti, Marco Turco, Davide Montin, Francesco Licciardi, Francesca Ferro, Silvana Martino, Claudia Toppino, and Maria Ceci
Subjects: 030203 arthritis & rheumatology, Histology, biology, medicine.diagnostic_test, business.industry, CD3, Naive B cell, Cell Biology, Group A, Group B, CD19, Pathology and Forensic Medicine, Flow cytometry, 03 medical and health sciences, 0302 clinical medicine, Immunology, biology.protein, Medicine, Synovial fluid, Oligoarticular Juvenile Idiopathic Arthritis, business, 030215 immunology
Abstract: Background Oligoarticular juvenile idiopathic arthritis (oJIA) is the most frequent form of chronic arthritis in children; the clinical course is extremely variable. In this study we have characterized by flow cytometry synovial B and T cells subsets in patients with oJIA in order to identify any parameters that could predict a more aggressive course of disease. Methods B and T cells from synovial fluid (SF) of 39 patients with oJIA were characterized by flow cytometry. In 22 patients SF was analysed at the onset of the disease (GroupA), in 17 SF was analysed at articular relapse (Group B). All patients in Group A were followed up for at least for 2 years after SF analysis: 13 patients relapsed during the follow-up period. Results Comparison of SF from Group A and Group B demonstrated an activated phenotype in relapsed patients, with higher Switched Memory B cells (58.53 vs 36.07% of CD19+, p-value 0.004) and lower Naive B cells (8.53 vs 25.9 of CD19+, p-value 0.002) in Group B. Furthermore, patients from Group A who did not relapse showed lower percentages of synovial DNT (2.38 vs 1.50% of CD3+TCRalpha/beta+, p-value 0.025) and γδ T cells (19.1 vs 15.0% of CD3+ cells, p-value 0.004) at the onset, if compared with other Group A patients. Conclusions In oJIA relapse SF present an activated B phenotype. Patients at disease onset with DNTs
Published: 2017

11. Correction to: The Italian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

Author: Daniela Tani, Elisabetta Cortis, Monica Tonelli, Alessandro Consolaro, Francesco Licciardi, Fabrizia Corona, Francesca Bovis, Rosa Anna Podda, Giovanni Filocamo, Elisa Patrone, Rita Consolini, Maria Cristina Maggio, Romina Gallizzi, Fabrizio De Benedetti, Rolando Cimaz, Sara Pieropan, Patrizia Barone, Francesco La Torre, Angela Pistorio, Claudia Toppino, Silvia Magni-Manzoni, Silvia Scala, Angela Miniaci, Marco Garrone, Nicolino Ruperto, Francesca Perfetti, Silvana Martino, Angelo Ravelli, Serena Pastore, Valeria Gerloni, Alberto Martini, Adele Civino, and Donato Rigante
Subjects: Male, Parents, medicine.medical_specialty, Adolescent, Patients, Psychometrics, Health Status, Immunology, Multidimensional assessment, MEDLINE, Arthritis, 030230 surgery, Disability Evaluation, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Predictive Value of Tests, Humans, Immunology and Allergy, Medicine, Juvenile, Patient Reported Outcome Measures, Age of Onset, Child, 030222 orthopedics, Cultural Characteristics, business.industry, Published Erratum, Correction, Reproducibility of Results, Translating, Prognosis, medicine.disease, Arthritis, Juvenile, Italy, Case-Control Studies, Child, Preschool, Family medicine, Quality of Life, Female, business
Abstract: The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Italian language.The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents.The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the 3 Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity).A total of 1296 JIA patients (7.2% systemic, 59.5% oligoarticular, 21.4% RF negative polyarthritis, 11.9% other categories) and 100 healthy children, were enrolled in 18 centres. The JAMAR components discriminated well healthy subjects from JIA patients except for the Health Related Quality of Life (HRQoL) Psychosocial Health (PsH) subscales. All JAMAR components revealed good psychometric performances.In conclusion, the Italian version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.
Published: 2018

12. 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, Gigliola Di Matteo, Cifaldi, Cristina, Brigida, Immacolata, Barzaghi, Federica, Zoccolillo, Matteo, Ferradini, Valentina, Petricone, Davide, Cicalese, MARIA PIA, Lazarevic, Dejan, Cittaro, Davide, Omrani, Maryam, Attardi, Enrico, Conti, Francesca, Scarselli, Alessia, Chiriaco, Maria, Di Cesare, Silvia, Licciardi, Francesco, Davide, Montin, Ferrua, Francesca, Canessa, Clementina, Pignata, Claudio, Giliani, Silvia, Ferrari, Simona, Fousteri, Georgia, Barera, Graziano, Merli, Pietro, Palma, Paolo, Cesaro, Simone, Gattorno, Marco, Trizzino, Antonio, Moschese, Viviana, Chini, Loredana, Villa, Anna, Azzari, Chiara, Finocchi, Andrea, Locatelli, Franco, Rossi, Paolo, Sangiuolo, Federica, Aiuti, Alessandro, Cancrini and Gigliola Di Matteo, Caterina, Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Di Cesare, S., Licciardi, F., Montin, D., Ferrua, F., Canessa, C., Pignata, C., Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, F., Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C., and Di Matteo, G.
Subjects: Haloplex, Ion Torrent, Next Generation Sequencing, gene panels, primary immunodeficiencies, Adolescent, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Infant, Infant, Newborn, Italy, Male, Phenotype, Primary Immunodeficiency Diseases, 0301 basic medicine, Gene panel, Primary immunodeficiencies, Candidate gene, 0302 clinical medicine, Targeted ngs, NGS, primary immunodeficiencies, child, genetic, Medicine, Immunology and Allergy, Technology Report, Exome, primary immunodeficiencies, Next Generation Sequencing, gene panels, Ion Torrent, Haloplex, lcsh:Immunologic diseases. Allergy, Immunology, Computational biology, DNA sequencing, 03 medical and health sciences, Preschool, Gene, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Correction, Ion semiconductor sequencing, Newborn, 030104 developmental biology, lcsh:RC581-607, business, Gene Discovery, 030215 immunology
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

13. Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 deletion syndrome

Author: Stefano Volpi, Francesca Conti, Baldassarre Martire, Emanuela Ricotti, Silvia Ricci, Ugo Ramenghi, Francesco Licciardi, Donato Amodio, Carmela Giancotta, Grazia Bossi, Chiara Azzari, Agostina Marolda, Marco Gattorno, Francesca Robasto, Giuliana Giardino, Caterina Cancrini, Claudio Pignata, Marzia Duse, Alessandro Plebani, Lucia Leonardi, Rosa Maria Dellepiane, Annarosa Soresina, Rita Consolini, Silvana Martino, Maria Caterina Putti, Francesca Ferro, Davide Montin, Giacomo Scaioli, Lucia Augusta Baselli, Silvia Di Cesare, Montin, Davide, Marolda, Agostina, Licciardi, Francesco, Robasto, Francesca, Di Cesare, Silvia, Ricotti, Emanuela, Ferro, Francesca, Scaioli, Giacomo, Giancotta, Carmela, Amodio, Donato, Conti, Francesca, Giardino, Giuliana, Leonardi, Lucia, Ricci, Silvia, Volpi, Stefano, Baselli, Lucia Augusta, Azzari, Chiara, Bossi, Grazia, Consolini, Rita, Dellepiane, Rosa Maria, Duse, Marzia, Gattorno, Marco, Martire, Baldassarre, Caterina Putti, Maria, Soresina, Annarosa, Plebani, Alessandro, Ramenghi, Ugo, Martino, Silvana, Pignata, Claudio, and Cancrini, Caterina
Subjects: Male, Hemolytic anemia, T-Lymphocytes, Lymphocyte, NK cells, Gastroenterology, 0302 clinical medicine, Immunophenotyping, Immunology and Allergy, 030212 general & internal medicine, CD4 naïve cell, Child, hemolytic anemia, B-Lymphocytes, thrombocytopenic purpura, 22q11.2 deletion syndrome, Autoimmune cytopenia, B immunophenotype, CD4 naïve cells, DiGeorge syndrome, Switched memory B cells, T immunophenotype, Thrombocytopenic purpura, Middle Aged, diGeorge syndrome, medicine.anatomical_structure, Child, Preschool, Female, Switched memory B cell, autoimmune cytopenia, switched memory B cells, Autoimmune hemolytic anemia, Adolescent, Adult, Autoimmune Diseases, Case-Control Studies, DiGeorge Syndrome, Humans, Lymphopenia, Young Adult, medicine.medical_specialty, Naive B cell, 03 medical and health sciences, Internal medicine, medicine, NK cell, Preschool, Survival rate, Settore MED/38 - Pediatria Generale e Specialistica, Cytopenia, business.industry, medicine.disease, 030228 respiratory system, business
Abstract: Background Patients with 22q11.2 deletion syndrome (22q11.2DS) may develop severe thrombocytopenic purpura and hemolytic anemia. There are no reliable predictors for the development of hematologic autoimmunity (HA) in these patients. Objective To describe the peculiar B and T subpopulation defects in patients with 22q11DS who have developed HA and test if these defects precede the development of HA. Methods We performed a case-control multicenter study. Patients with HA were compared with a control population of 22q11.2DS without HA (non-HA). A complete immunological evaluation was performed at diagnosis and at the last follow-up including extensive T and B phenotypes. Results Immunophenotype at the last follow-up was available in 23 HA and 45 non-HA patients. HA patients had significantly decreased percentage of naive CD4+ cells (26.8% vs 43.2%, P = .003) and recent thymic emigrants (48.6% vs 80.5%, P = .046); decreased class-switched B cells (2.0% vs 5.9%, P = .04) and increased naive B cells (83.5% vs 71.4%, P = .02); increased CD16+/56+ both in absolute number (312 vs 199, P = .009) and percentage (20.0% vs 13.0%, P = .03). Immunophenotype was performed in 36 patients (11 HA and 25 non-HA) at diagnosis. Odds ratio (OR) of immune cytopenia were estimated for both CD4 naive ≤30% (OR 14.0, P = .002) and switched memory B cells ≤2% (OR 44.0, P = .01). The estimated survival curves reached statistical significance, respectively, P = .0001 and P = .002. Conclusions Among patients with 22q11.2DS, those with HA have characteristic lymphocyte anomalies that appear considerably before HA onset. Systematic immunophenotyping of patients with 22q11.2DS at diagnosis is advisable for early identification of patients at risk for this severe complication.
Published: 2019

14. Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

Author: Joost Frenkel, Valda Stanevica, Michael Hofer, Francesco Licciardi, Antonella Insalaco, Rolando Cimaz, Riccardo Papa, Alma Nunzia Olivieri, Nienke M. ter Haar, Nicolino Ruperto, Susan Nielsen, Paul A. Brogan, Consuelo Modesto, Nicolae Iagaru, Marco Gattorno, Sarka Fingerhutova, Charlotte Eijkelboom, Antonio Vitale, Marielle E. van Gijn, Luca Cantarini, Marija Jelušić, Yosef Uziel, Gordana Susic, Efimia Papadopoulou-Alataki, Isabelle Koné-Paut, Irina Nikishina, Ter Haar, Nm, Eijkelboom, C, Cantarini, L, Papa, R, Brogan, Pa, Kone-Paut, I, Modesto, C, Hofer, M, Iagaru, N, Fingerhutová, S, Insalaco, A, Licciardi, F, Uziel, Y, Jelusic, M, Nikishina, I, Nielsen, S, Papadopoulou-Alataki, E, Olivieri, An, Cimaz, R, Susic, G, Stanevica, V, van Gijn, M, Vitale, A, Ruperto, N, Frenkel, J, and Gattorno, M
Subjects: Male, myalgia, Abdominal pain, Biochemistry, 0302 clinical medicine, eurofever, Adrenal Cortex Hormones, autoinflammatory diseases, inflammation, recurrent fever, Immunology and Allergy, Registries, Age of Onset, Child, 0303 health sciences, Pedigree, 3. Good health, Europe, Child, Preschool, Antirheumatic Agents, Adolescent, Adult, Chronic Disease, Colchicine, Female, Genetic Variation, Hereditary Autoinflammatory Diseases, Humans, Interleukin 1 Receptor Antagonist Protein, Retrospective Studies, Young Adult, medicine.symptom, medicine.drug, medicine.medical_specialty, Immunology, Mucocutaneous zone, General Biochemistry, Genetics and Molecular Biology, Malaise, 03 medical and health sciences, Pericarditis, Rheumatology, Internal medicine, Journal Article, medicine, Recurrent disease, Preschool, 030304 developmental biology, 030203 arthritis & rheumatology, Anakinra, Biochemistry, Genetics and Molecular Biology(all), business.industry, medicine.disease, business, Genetics and Molecular Biology(all)
Abstract: ObjectivesTo describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs).MethodsClinical and genetic data from patients with undefined SAIDs were extracted from the Eurofever registry, an international web-based registry that retrospectively collects clinical information on patients with autoinflammatory diseases.ResultsThis study included 187 patients. Seven patients had a chronic disease course, 180 patients had a recurrent disease course. The median age at disease onset was 4.3 years. Patients had a median of 12 episodes per year, with a median duration of 4 days. Most commonly reported symptoms were arthralgia (n=113), myalgia (n=86), abdominal pain (n=89), fatigue (n=111), malaise (n=104) and mucocutaneous manifestations (n=128). In 24 patients, relatives were affected as well. In 15 patients, genetic variants were found in autoinflammatory genes. Patients with genetic variants more often had affected relatives compared with patients without genetic variants (p=0.005). Most patients responded well to non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, colchicine and anakinra. Complete remission was rarely achieved with NSAIDs alone. Notable patterns were found in patients with distinctive symptoms. Patients with pericarditis (n=11) were older at disease onset (33.8 years) and had fewer episodes per year (3.0/year) compared with other patients. Patients with an intellectual impairment (n=8) were younger at disease onset (2.2 years) and often had relatives affected (28.6%).ConclusionThis study describes the clinical characteristics of a large cohort of patients with undefined SAIDs. Among these, patients with pericarditis and intellectual impairment appear to comprise distinct subsets.
Published: 2019

15. NFKB2 regulates human Tfh and Tfr pool formation and germinal center potential

Author: Vassilios Lougaris, Francesco Licciardi, Davide Montin, Silvia Di Cesare, Manuela Baronio, Maria Pia Cicalese, Georgia Fousteri, Caterina Cancrini, Carmen Giancotta, Pasqualina De Leo, Alessandro Plebani, Alessandro Aiuti, Luisa Gazzurelli, De Leo, P., Gazzurelli, L., Baronio, M., Montin, D., Di Cesare, S., Giancotta, C., Licciardi, F., Cancrini, C., Aiuti, A., Plebani, A., Cicalese, M. P., Lougaris, V., and Fousteri, G.
Subjects: Male, NFKB2, 0301 basic medicine, Helper-Inducer, T-Lymphocytes, Common variable immunodeficiency (CVID), Autoimmunity, Gene mutation, T-Lymphocytes, Regulatory, Interleukin 21, 0302 clinical medicine, Immunology and Allergy, Child, Cells, Cultured, Sequence Deletion, Cultured, Follicular helper T cells (Tfh), Follicular regulatory T cells (Tfr), T regulatory cells (Treg), Adolescent, Adult, Cell Differentiation, Cell Proliferation, Common Variable Immunodeficiency, Cytokines, Female, Germinal Center, Humans, NF-kappa B, NF-kappa B p52 Subunit, Signal Transduction, T-Lymphocytes, Helper-Inducer, Young Adult, Regulatory, Interleukin 10, medicine.anatomical_structure, Cells, T cell, Immunology, Biology, 03 medical and health sciences, medicine, CXCL13, Interleukin 4, Settore MED/38 - Pediatria Generale e Specialistica, Common variable immunodeficiency, Germinal center, medicine.disease, 030104 developmental biology, 030215 immunology
Abstract: Mutations affecting the non-canonical pathway of NF-κB were recently identified to underlie a form of common variable immunodeficiency strongly associated with autoimmunity. Although intrinsic B-cell abnormalities explain most of the humoral defects of this disease, detailed data on the impact of NFKB2 on follicular helper (Tfh) and regulatory (Tregs) T cells are scarce. Here, we show that Tfh, CXCR5+, and CXCR5− Treg cell subsets were significantly reduced in patients heterozygous for a truncating mutation of NFKB2. Plasma CXCL13 levels were reduced, underlining an important role for NFKB2 in regulating the germinal center (GC) response. Proinflammatory IFNγ, IL-17 and IL-10 cytokine production by CD4 T cells was lower in the mutated patients, but the production of IL-4 and IL-21 was not altered. Taken together, our findings show that NFKB2 influences the quality and efficiency of human GC reaction, by affecting not only the B cells but also GC-relevant T cell subsets.
Published: 2020

16. Circulating follicular helper and follicular regulatory T cells are severely compromised in human CD40 deficiency: A case report

Author: Maria Pia Cicalese, Jolanda Gerosa, Manuela Baronio, Davide Montin, Francesco Licciardi, Annarosa Soresina, Rosa Maria Dellepiane, Maurizio Miano, Lucia Augusta Baselli, Stefano Volpi, Carlo Dufour, Alessandro Plebani, Alessandro Aiuti, Vassilios Lougaris, Georgia Fousteri, Cicalese, Maria Pia, Gerosa, Jolanda, Baronio, Manuela, Montin, Davide, Licciardi, Francesco, Soresina, Annarosa, Dellepiane, Rosa Maria, Miano, Maurizio, Baselli, Lucia Augusta, Volpi, Stefano, Dufour, Carlo, Plebani, Alessandro, Aiuti, Alessandro, Lougaris, Vassilio, and Fousteri, Georgia
Subjects: Male, 0301 basic medicine, Helper-Inducer, T-Lymphocytes, Case Report, AICDA, Hyper-IgM Immunodeficiency Syndrome, Lymphocyte Activation, T-Lymphocytes, Regulatory, 0302 clinical medicine, Activation-induced (cytidine) deaminase, CD40, Immunology and Allergy, Child, CD40LG, class switch recombination, follicular helper T cells, follicular regulatory T cells, hyper-IgM syndrome, somatic hypermutation, Adolescent, Adult, CD40 Antigens, CD40 Ligand, Child, Preschool, Cytidine Deaminase, Female, Humans, Immunophenotyping, Mutation, T-Lymphocytes, Helper-Inducer, Young Adult, biology, Follicular regulatory T cells, Cytidine deaminase, Regulatory, Class switch recombination, Follicular helper T cells, Hyper-IgM syndrome, Somatic hypermutation, Immunology, lcsh:Immunologic diseases. Allergy, Hyper IgM syndrome, 03 medical and health sciences, Immune system, medicine, Preschool, Follicular helper T cell, AICDA, CD40, CD40LG, Class switch recombination, Follicular helper T cells, Follicular regulatory T cells, Hyper-IgM syndrome, Somatic hypermutation, Immunology and Allergy, Immunology, Follicular regulatory T cell, Germinal center, medicine.disease, 030104 developmental biology, Immunoglobulin class switching, biology.protein, lcsh:RC581-607, 030215 immunology
Abstract: Mutations in genes that control class switch recombination and somatic hypermutation during the germinal center (GC) response can cause diverse immune dysfunctions. In particular, mutations in CD40LG, CD40, AICDA, or UNG cause hyper-IgM (HIGM) syndrome, a heterogeneous group of primary immunodeficiencies. Follicular helper (Tfh) and follicular regulatory (Tfr) T cells play a key role in the formation and regulation of GCs, but their role in HIGM pathogenesis is still limited. Here, we found that compared to CD40 ligand (CD40L)- and activation-induced cytidine deaminase (AICDA)-deficient patients, circulating Tfh and Tfr cells were severely compromised in terms of frequency and activation phenotype in a child with CD40 deficiency. These findings offer useful insight for human Tfh biology, with potential implications for understanding the molecular basis of HIGM syndrome caused by mutations in CD40.
Published: 2018

17. The Italian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

Author: Adele Civino, Claudia Toppino, Francesca Perfetti, Monica Tonelli, Silvia Scala, Alessandro Consolaro, Silvia Magni-Manzoni, Angela Miniaci, Francesca Bovis, Nicolino Ruperto, Patrizia Barone, Angela Pistorio, Donato Rigante, Giovanni Filocamo, Francesco La Torre, Elisabetta Cortis, Alberto Martini, Romina Gallizzi, Fabrizio De Benedetti, Fabrizia Corona, Rolando Cimaz, Sara Pieropan, Rita Consolini, Serena Pastore, Rosa Anna Podda, Angelo Ravelli, Valeria Gerloni, Elisa Patrone, Silvana Martino, Francesco Licciardi, Maria Cristina Maggio, Daniela Tani, Marco Garrone, Consolaro, Alessandro, Bovis, Francesca, Pistorio, Angela, Cimaz, Rolando, De Benedetti, Fabrizio, Miniaci, Angela, Corona, Fabrizia, Gerloni, Valeria, Martino, Silvana, Pastore, Serena, Barone, Patrizia, Pieropan, Sara, Cortis, Elisabetta, Podda, Rosa Anna, Gallizzi, Romina, Civino, Adele, Torre, Francesco La, Rigante, Donato, Consolini, Rita, Maggio, Maria Cristina, Magni-Manzoni, Silvia, Perfetti, Francesca, Filocamo, Giovanni, Toppino, Claudia, Licciardi, Francesco, Garrone, Marco, Scala, Silvia, Patrone, Elisa, Tonelli, Monica, Tani, Daniela, Ravelli, Angelo, Martini, Alberto, and Ruperto, Nicolino
Subjects: Gerontology, Male, Parents, Patient Reported Outcome Measure, Psychometrics, Health Status, Arthritis, Juvenile, Predictive Value of Test, Health Statu, Disability Evaluation, 0302 clinical medicine, Medicine, Immunology and Allergy, Functional ability, Age of Onset, Child, JAMAR, Patient, Prognosis, Disease status, Health Related Quality of Life, Juvenile idiopathic arthritis, Adolescent, Arthritis, Juvenile, Case-Control Studies, Child, Preschool, Cultural Characteristics, Female, Humans, Italy, Patients, Predictive Value of Tests, Quality of Life, Reproducibility of Results, Rheumatology, Translating, Patient Reported Outcome Measures, Cultural Characteristic, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Predictive value of tests, Case-Control Studie, Psychometric, Human, medicine.medical_specialty, Prognosi, Immunology, Reproducibility of Result, 03 medical and health sciences, Juvenile idiopathic arthriti, Quality of life (healthcare), Disease status, Functional ability, Health Related Quality of Life, JAMAR, Juvenile idiopathic arthritis, Adolescent, Age of Onset, Arthritis, Juvenile, Case-Control Studies, Child, Child, Preschool, Cultural Characteristics, Female, Health Status, Humans, Italy, Male, Parents, Patients, Predictive Value of Tests, Prognosis, Psychometrics, Quality of Life, Reproducibility of Results, Rheumatology, Translating, Disability Evaluation, Patient Reported Outcome Measures, 030225 pediatrics, Internal medicine, Validation Studies, Disease statu, Preschool, 030203 arthritis & rheumatology, business.industry, medicine.disease, Parent, Age of onset, business
Abstract: The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Italian language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the 3 Likert assumptions, floor/ceiling effects, internal consistency, Cronbach’s alpha, interscale correlations, test–retest reliability, and construct validity (convergent and discriminant validity). A total of 1296 JIA patients (7.2% systemic, 59.5% oligoarticular, 21.4% RF negative polyarthritis, 11.9% other categories) and 100 healthy children, were enrolled in 18 centres. The JAMAR components discriminated well healthy subjects from JIA patients except for the Health Related Quality of Life (HRQoL) Psychosocial Health (PsH) subscales. All JAMAR components revealed good psychometric performances. In conclusion, the Italian version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.
Published: 2018

18. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two

Author: David Kern, Masato Yashiro, Gerd Horneff, Ana P. Sakamoto, Berent J. Prakken, Paula Vähäsalo, Juergen Brunner, Ezgi H. Baris, Helen McCarthy, Janet E. McDonagh, A. Grom, Adriana Albu, Lenka Linkova, I. Nikishina, Daniel Álvarez de la Sierra, Bruno Papia, Peggy Lee, Luisa Giannone, Tobias Schwarz, Mekibib Altaye, Margarita Onoufriou, Tatiana Sleptsova, N. Ruperto, O Thana, A. Baheti, Ilonka Orbán, Kai Lehmberg, F. Zulian, Helga Sanner, Karin Palmblad, Kousuke Shabana, Sebastiaan Vastert, Marta Rusmini, Olga Vougiouka, Dirk Holzinger, D. Shaikhani, Shouichi Ohga, Ismail Dursun Dursun, Claire T Deakin, Ingrid Herta Rotstein Grein, Maria Trachana, Ariane Klein, Eugenia Enriquez, Angelo Ravelli, Paul A. Brogan, L.S. Nazarova, Laila Al Shaqshi, Paulina Vele, Liana Guerra, Antonia Pascarella, Jelena Vojinovic, Juliana Molina, Kjell Tullus, S. Rodionovskaya, Chris Scott, A. N. Olivieri, Cliff Taggart, Clare Heard, Ricardo Pujol Borrell, Jens Klotsche, Grendel Burrell, Oriany L. Pereira, Silvia Giliani, Sandra Pereira, Jennifer Horonjeff, Beth A. Mueller, Lyudmyla M. Byelyaeva, Sergio Tufik, Carlo Agostoni, Valentina Muratore, Rostislav M. Filonovich, Fiona Hawke, Virginia Messia, Bo Magnusson, Kerry West, Sara Murias, Mustafa Doğan, Hafize Emine Sönmez, Annet van Royen-Kerkhof, K. Minden, Raquel Campanilho-Marques, Reem Abdawani, Maria Ceci, Maria Ekelund, Seza Ozen, Ratna Puri, Girolamo Luppino, Shannon Carr, Rita A. Amorim, K Kobrová, Rachael D. Wright, Chantal Job-Deslandre, Daniel J. Lovell, Jorge Kalil, Yi-jin Gao, Kubra Ozturk, Fulvio Parentin, Ursula Fearon, Frank Weller-Heinemann, Elizabeth Ang, Charles A Mebus, Andrea Superti-Furga, Alina Ferster, Rikard Wicksell, Mohammadreza Modaressi, F La Torre, Ela Tarakci, Wendy Thomson, Giorgia Malighetti, Antonio Eleuteri, Helena K. Khrustaleva, Alan Easton, Alexander Mushkin, Sara Marsal Barril, Erkan Demirkaya, Florence Kanakoudi-Tsakalidou, Diana Ekdawy, Lana Tambić Bukovac, Suvi Peltoniemi, Nur Arslan, Hermine I. Brunner, Tim Rapley, Donatella Vairo, Kirill Savostyanov, Fumiko Okazaki, Rachel Corkhill, Tufan Kutlu, MG Alpigiani, Fabio Fernandes Morato Castro, Juliana Farhat, Butsabong Lerkvaleekul, Scolozzi Paolo, Akihiko Saitoh, Jason Dare, Gustavo Rocha, Tatiana V. Viktorova, Riva Brik, Jason Palman, Fabrizia Corona, Susan Nielsen, Johannes Roth, Ma. Theresa M. Collante, Leonardo Oliveira Mendonça, D. Alexeev, Randy Q. Cron, Sriharsha Grevich, Andrea L. Jorgensen, Lúcia Maria de Arruda Campos, Kiran Nistala, Fernando Martins, R. Cimaz, Angela C. Mosquera, Ruy Carrasco, Reyhan Dedeoglu, Giovanni Filocamo, J. Dare, Paula Keskitalo, Ana J. D. F. C. Lichtenfels, Florence Uettwiller, Umberto Conte, Gecilmara Salviato Pileggi, Michal Uher, Mercedes Chan, Sarka Fingerhutova, Anne M. Stevens, Peter Bale, Mikel Alberdi-Saugstrup, Olga L Kopchak, Thomas A. Griffin, Constantin Ailioaie, Clifton Bingham, Ekaterina Alexeeva, Loshinidevi D Bathi, Jane Hurst, AnnaCarin Horne, Laura Muntean, Nermin Uncu, Mara Carraro, C Vargas, Lorenzo Quartulli, Ayşenur Paç Kısaarslan, Angela Mauro, F. Corona, Donato Rigante, Helen J. Lachmann, Ana Cordeiro, Ivan Foeldvari, Faysal Gok, Tatiana Gonzalez, S. S. M. Kamphuis, Hasret Ayyildiz-Civan, Claudia Pastorino, Gleice C. S. Russo, J. B. Kuemmerle-Deschner, Serena Pastore, Nigel Klein, M. Jorini, Tatjana Freye, Maria Tsolia, Philippe Jacqmin, Suzanne M M Verstappen, Syuji Takei, Khalid Hussain, Renzo Marcolongo, Yuichi Yamasaki, Sharmila Jandial, K. Leon, Maria Pia Sormani, T. A. Simon, Mohammed Muzaffer, Catalina Mosquera, Clovis Aa Silva, Zelal Ekinci, Zübeyde Gündüz, Bernd Denecke, Felicitas Bellutti Enders, Despina Eleftheriou, Ishbel MacGregor, Andrew Cant, Luisa Bonafé, Valda Staņēviča, Helen E. Foster, Alberto Tommasini, Nora Bartholomä, Nural Kiper, A. Kardolus, Eloisa Bonfa, Alessandro Consolaro, Lillemor Berntson, Umberto Garagiola, Richard K. Vehe, Vanessa Bugni Miotto e Silva, Chihaya Imai, Kathleen G. Lomax, Brian Best, Barbara Bonafini, M. Toth, D. Rigante, Eiman Abdalla, Leona Prochazkova, Lucy Wedderburn, Lovro Lamot, S. Verazza, Raffaella Carlomagno, Gillian I. Rice, Norm Ilowite, K. de Leeuw, Havva Evrengül, Jerold Jeyaratnam, Andrew Zeft, Andrea Taddio, R. Podda, Samuel Cassidy, Grant S. Schulert, Silvia Rosina, Marija Jelušić, Olivier Gilliaux, Rubén Burgos-Vargas, Mao Mizuta, Akihiro Yachie, Angel Phuti, Antonio Zea Mendoza, Emily Boulter, Zane Dāvidsone, Sofia Torreggiani, Marco Cattalini, Natali W. Gormezano, Fatma Dedeoglu, Hercília Guimarães, A. Insalaco, Andrea Coda, Viktor A. Malievsky, Thomas Zumbrunn, Agostino Nocerino, Ronald Pederson, Katarzyna Kobusinska, Anasuya Hazra, Ananadreia S. Lopes, Elena Campione, Toshiyuki Kitoh, Elena Tsitsami, Henny G. Hotten, Radka Kaneva, R. J. E. M. Dolhain, Ndate Fall, Francesco Licciardi, Deepti Suri, G. D’Angelo, Valentina Seraya, Elżbieta Smolewska, Anastasia Dropol, Ezgi Deniz Batu, Andreas Woerner, Christine Arango, Nadia E. Aikawa, Zoilo Morel, Megan Yuasa, Sandra Ammann, Erbil Unsal, Tomohiro Kubota, Toshitaka Kizawa, Fabrizio De Benedetti, Catherine Laing, Liudmila Rakovska, Yonatan Butbul Aviel, J-Peter Haas, Marta Minute, Christine Alvey, Vasiliko Dermentzoglou, Vania Schinzel, Isree Leelayuwattanakul, Ekim Taskiran, Gabriele Simonini, N. Martin, Nathalie Canham, Nicky Brice, Beatrice Vergara, Ika Birkić, Cengizhan Acikel, Johannes-Peter Haas, Ruth Fritsch, Alisa Vitebskaya, Fatih Yazici, Iva Brito, Nataša Toplak, Veronica Moshe, Gordon J Hendry, Nadia Luca, Deniz Doğru-Ersöz, Marco Matucci-Cerinic, Claudia Toppino, Zoë Johnson, Beatrice Goilav, Siyaram Didel, K. Marzan, Tamar B. Rubinstein, Angela Barnicoat, Peter Nourse, Thita Pacharapakornpong, Adele Civino, Inmaculada Calvo Penades, H. I. Brunner, Massimo Imazio, V. Gerloni, Ayla Kacar, Heinrike Schmeling, Marija Perica, Silvestre García de la Puente, Tadej Avcin, Filipa Oliveira-Ramos, S. Arsenyeva, Phillip J Hashkes, Sabrina Schuller, Adriana Rodriguez Vidal, Kathy de Graaf, Giedre Januskeviciute, M. Kaleda, Lee Dossetter, Jelena Basic, Elena Kaschenko, Erik Sundberg, Gizem Pamuk, Marek Zak, I. Foeldvari, Rachael Quarmby, Marc D. Natter, Antonarakis Gregory, P. A. Brogan, João Eurico Fonseca, Andrea Jorgensen, Ana F. Mourão, Gaurav Gulati, Yelda Bilginer, Banu Acar Celikel, Utako Kaneko, Karen L. Durrant, Alice Grossi, Maurizio Aricò, Ibrahim Al Zakwani, Yildirim Karslioglu, Takuji Murata, Monika Stoll, Maria Teresa Terreri, Ariana Kariminejad, Teresa A. Simon, Laura B Lewandowski, Marina Garcia Prat, Walter G. Ferlin, Albena Telcharova, Giovanni Maria Severini, Judith Wienke, Panagiota Nalbanti, Hakan Poyrazoglu, Athimalaipet V. Ramanan, Manisha Lamba, Z. Guo, J. Bohnsack, Norberto Guelbert, John F. Bohnsack, Lucy R. Wedderburn, Elvira Cannizzaro Schneider, Raul Gutiérrez Suárez, Debra Grech, Yonit Reis, Chris Pruunsild, Amit Rawat, Nienke M. ter Haar, Hiroshi Tamai, Alexander Pushkov, A. De Fanti, Valentina Marzetti, Sheila Weitzman, I. E. M. Bultink, Dilek Keskin, Sania Valieva, Klaus Tenbrock, Ana Luisa Rodriguez-Lozano, Lianne Kearsley-Fleet, Luca Messina, Chiara Gorio, Amra Adrovic, Stephanie J. W. Shoop, Davide Cumetti, Sana Al Zuhbi, Helena Khrustaleva, E. Zirkzee, Elio Castagnola, Clarissa Pilkington, Jingyao Leong, Vitor A. Teixeira, Reinhard Würzner, Sonia Melo Gomes, Orla Killeen, Antony C. Fisher, Sevket Erbil Unsal, Edward M. Behrens, Kristiina Aalto, Rebecca Nicolai, Thomas C. Stock, Luiz Cláudio Danzmann, Y. K. O. Teng, Stephen D. Marks, Fotios Papachristou, Valda Stanevicha, Richard Saffrey, Elizabeth Ralph, Johannes Peter Haas, Mary Slatter, Maria Tsinti, Mehmet Alikasifoglu, Mónica Martínez Gallo, Rayfel Schneider, Rosa Maria Rodrigues Pereira, Maria F. D. A. Giacomin, Alfésio Luís Ferreira Braga, Giulia Camilla Varnier, James McElnay, Jessica Foster, Ingrida Rumba-Rozenfelde, Francesca Minoia, Laurence Goffin, Roger C. Allen, Zehra S. Arıcı, Mette Nørgaard, Alberto Martini, Hofer Michaël, Andreas Eikelberg, Junko Yasumura, Maria José Santos, Tom Wolfs, Ada B. Sinoplu, Natalia Balera Ferreira Pinto, Michael Lang, Umberto Corpora, Hidenobu Kaneyasu, Fiorenzo Gaita, Olga Lomakina, Dimitrina Mihaylova, Gian Luca Erre, Fugen Cullu-Cokugras, Mesut Topdemir, Sriram Krishnaswami, Irina Nikishina, Noortje Groot, S. Pastore, Joke Dehoorne, Paula Estanqueiro, Shafe Fahoum, Francisca Aguiar, Mabel Ladino, Nico M Wulffraat, Jana Franova, Helena Erlandsson-Harris, Denise Pires Marafon, Adrian Liston, Edward H. Schuchman, Jaime C. Branco, Maria Teresa R. Terreri, Radoslava Saraeva, Ulrika Järpemo Nykvist, Maria Cristina Maggio, Kazuko Yamazaki, Lídia Teixeira, Hanquinet Sylviane, Ricardo Yepez, Susan Maillard, Tommy Gerschman, G. Horneff, Anne-Louise Ponsonby, Meredith Riebschleger, Alessandra Alongi, José Melo-Gomes, Iris Haug, Maria De Iorio, Ekaterina Alekseeva, Jan-Inge Henter, Elisa Pisaneschi, H. Kupper, Martina Niewerth, Berta López Montesinos, Shunji Hasegawa, Zahra Hadipour, R. M. Kuester, Silvia Maestroni, Pilar Guarnizo, Antonio Brucato, Tamaki Nakamura, Gustavo Antonio Moreira, Chaim Putterman, A. Hospach, Joost Frenkel, Svetlana O Salugina, A. Ravelli, Pavla Dolezalova, Gunnar L. Olsson, Eva González-Roca, Ellen Dalen Arnstad, Mohammad Alhemairi, Tina Hinnershitz, P. Quartier, Yildirim Karsioglu, Davinder Singh Grewal, Sergio Davì, Gökçen D. Tuğcu, Tomo Nozawa, Emily Robinson, M. C. Maggio, Maria Ballabio, Eleonora Bellucci, Alexei A. Grom, Rosa M. Pereira, Federica Vanoni, Shumpei Yokota, Justine A. Ellis, Helen Bristow, Mohammad-Hassan Moradinejad, Ricardo Russo, Harun Evrengül, Mario Abinun, Laura Carenini, Francesca Santarelli, C. Wallace, Maria Beatriz Fonseca, Timothy Beukelman, Saša Sršen, Véronique Hentgen, Sezgin Sahin, Silvia Zaffarano, Salvatore Albani, Valentin Brodszky, Clovis A. Silva, Graciela Espada, Jana Pachlopnik Schmid, Margaux Gerbaux, Stefano Stagi, Valentina Leone, Brian Leroux, Isabelle Koné-Paut, Gabriella Giancane, Soley Omarsdottir, Benedetta Schiappapietra, Alessandra Carobbio, Ricardo Menendez-Castro, Yoshifumi Kawano, Ozge Erdemli, Monia Lorini, Arjan Boltjes, Ellen Nordal, Carol A. Wallace, Mustafa Çakan, Reni Tzveova, Stefano Lanni, Salah Shokry, Kirsty McLellan, Qiong Wu, Nilay Arman, Adelina Tsakova, Michael W. Beresford, A. Consolaro, Francesca Bovis, Margarita Ganeva, Christoph Kessel, A. Martini, Taichi Kanetaka, Andre Schultz, Flora McErlane, Ronnie Wang, Mojca Zajc Avramovič, Thaschawee Arkachaisri, Boris Huegle, Funda Öztunç, Jane E Munro, Yanick J. Crow, Hiroyuki Wakiguchi, Rita Fonseca, Kim E. Nichols, Mia Glerup, Nils Venhoff, R. Filonovich, Erika Van Nieuwenhove, Nadia Rafiq, Elena Kamenets, Yasuo Nakagishi, Giampietro Farronato, Consuelo Modesto Caballero, Tulay Erkan, Jan Bonhoeffer, Jack Bukowski, Myrthes Toledo Barros, Gladys C. C. Esteves, Mirta Lamot, Rosa Alcobendas, Cláudia Moura, Florencia María Barbé-Tuana, Joo Guan Yeo, Mark Friswell, Yuko Sugita, Ari Shapiro, Nagla Abdelrahman, Phu-Quoc Lê, Kevin Murray, Susanne M Benseler, Anna Monica Bianco, J. Kalabic, Ana Catarina Duarte, Ivan Caiello, Joyce Davidson, Maria Isabel Gonzalez Fernandez, Larisa Zajtseva, Ebun Omoyinmi, Jaime de Inocencio, Dragana Lazarevic, Ritambhra Nada, Claudia Saad-Magalhães C, G. Conti, Andrew Gennery, Caroline Jones, Christophe Lelubre, Brian Rusted, Geneviève Lapeyre, Giulia Zani, Alina Boteanu, Maria T. Terreri, Nataliya Panko, Julia Albrecht, Federica Mongini, Lucio Giordano, Daniela Kaiser, Robert Nelson, Hans-Iko Huppertz, Gonca Keskindemirci, Karla Ištuk, Raffaele Strippoli, Dorota Rowczenio, Emma MacDermott, Roberta Caorsi, Emiliano Marasco, Sandra Sousa, Fatoş Yalçınkaya, Jaanika Ilisson, Yuki Kimura, Marco Turco, Nami Okamoto, Parveen Bhatti, Ekaterina M. Kuchinskaya, Stefano Volpi, Min Wang, Jeffrey M. Craig, M. Bijl, Giusi Prencipe, Fatemeh Tahghighi, W. van Dijk, Christiaan Scott, Masaki Shimizu, Alexey Maletin, Braydon Meyer, Joost F Swart, Sylvia Costa Lima Farhat, Anna Taparkou, R. Fritsch-Stork, Paolo Cressoni, Reiji Hirano, I. Chyzheuskaya, Stefania Simou, Kseniya Isayeva, Mariluz Gámir Gámir, Paivi Miettunen, Francesca Ricci, Ruta Šantere, George Lazaros, Madeleine Rooney, Stefan Stefanov, Huseyin Ozkan, Céline La, Boris Hügle, Vita Dolžan, P. Barone, R. Gallizzi, Aline L. de Oliveira, Silvia Federici, Lauren J. Lahey, Kimme L. Hyrich, Claudia Saad-Magalhães, Selçuk Yüksel, Valda Stanevica, Silvia De Pauli, Seid-Reza Raeeskarami, Calin Lazar, Sema Akman, Laurence Chatel, Kirsten Minden, Ismaiel A. Tekko, Philipp Henneke, E. Cortis, Elena Košková, Gil Amarilyo, Ana M. Marín Sánchez, Antonella Insalaco, Z. Birsin Ozcakar, Melissa Mariti Fraga, Lena Klevenvall, Luis Lira, Phoi-Ngoc Duong, Tatiana Bzarova, Neus Quilis, Wilco de Jager, Gary Sterba, Rina Denisova, Miroslav Harjacek, Eve M D Smith, N Ruperto, Gemma Lepri, Evgeniya Chistyakova, Rachel Kaufmann, Liliana Lourenço Jorge, Violeta Panaviene, Helena Canhão, Riccardo Belli, Grigoris Pardalos, Larisa I. Zajtseva, Nicolino Ruperto, Ezgi Batu, Paola Montesano, Alexander Solyom, Nicola Smith, Ales Janda, Sagar Bhattad, Liora Harel, Philip N. Hawkins, Gozde Yucel, François Willermain, Paolo Picco, Alessandro Rimini, Gordana Susic, Esi M. Morgan, Jessica Beckmann, Arina Lazareva, Agustin Remesal, Özge Altuğ Gücenmez, Troels Herlin, Andreas Groll, T. Yuraga, Ekaterina Zaharova, Adriana E. M. Sallum, Zeynep Birsin Özçakar, D. Milojevic, Can Kosukcu, Isabella Ceccherini, Sandrine Lacassagne, Tania M. Castro, R. Consolini, Klaus Müller, Dogan Simsek, Frank Rühle, Katia Kozu, Femke van Wijk, Yasin Sahin, Jonathan S. Hausmann, Gokalp Basbozkurt, M. Cattalini, Mª José Santos, Norman T. Ilowite, Adriana M. E. Sallum, Simona Rednic, Sirisucha Soponkanaporn, Giancarla Di Landro, Semanur Özdel, Timothy R. Radstake, Anastasia Wiener, Betül Sözeri, Estefania Quesada-Masachs, E. Zholobova, Joshua Newson, Ozgur Kasapcopur, Davide Montin, Terence Flood, Amir Mendelson, Manuela Pardeo, Flávia Heloísa dos Santos, Jamie Eaton, Vignesh Pandiarajan, Lyudmila Belyaeva, Edson Amaro Junior, Claudio Arnaldo Len, Tamás Constantin, Livia de Freitas Keppeke, Cristina Ferrari, Margarita Soloshenko, C. Rabinovich, David Popp, Jeremy Sokolove, Jaymi Taiani, Chiara Passarelli, de Min Cristina, José Costa, Stefanie Herresthal, Thomas Giner, Laure Caspers, Dilek Konukbay, Ulrich Salzer, Jorre S. Mertens, Marijan Frković, Yosef Uziel, Sabrina Chiesa, Luisa Bracci-Laudiero, Anders Fasth, Raul A. Chavez Valencia, Jordan T. Jones, Francesca Lancini, Alessandra Ferrari, Dana Nemcova, Mark Difrancesco, Ricardo Figueira, John Mitchell, Zohreh Nademi, E. Fedorov, Thomas Vogl, Carine Wouters, Mónica Eusébio, Hannah Leahey, Alessandra Pontillo, Marco Gattorno, Mandica Vidović, Lucas L. van den Hoogen, Mikhail Kostik, Giovanni Corsello, Gian Marco Moneta, Richard Mouy, Mariana Rodrigues, Veronica Medeghini, Gökçe Gür, Lucas Kich Grun, Stephan Ehl, Edi Paleka Bosak, Walter Ferlin, Hanna Lythgoe, Tsuyoshi Yamatou, Navdha R. Ramchurn, Carolina Furtado, Estefania Barral, Cecilia Lazea, Nikolay Tzaribachev, Vahid Ziaee, Fatemeh Hadipour, Alberto Sifuentes Giraldo, Kimberly Gilmour, Marite Rygg, Anna Valenti, María M Katsicas, Raju Khubchandani, Despoina Maritsi, Alessandra Tesser, R. M. Laxer, Clotilde Alizzi, Francisco Rivas-Larrauri, Aysen Tezcaner, Anne Dennos, Vasiliki Tzimouli, Vibeke Strand, Banu Acar, Fabio Candotti, Kseniia V. Danilko, Joachim Schultze, María Luz Gámir Gámir, Alessia Omenetti, Berit Flatø, Ruth Eraso, Bernard Lauwerys, Angela Pistorio, Andressa G. F. Alves, Gerd Ganser, Sara Signa, Ana Lopes, Emese Kiss, Charlene Foley, Sylvia Kamphuis, Maja Di Rocco, Kenan Barut, Ilaria Parissenti, Aida Koka, Nicholas Ng, Francis Corazza, Vinícius L. Braga, Laura E. Schanberg, Karin Beutel, Camila Hirotsu, Jonathan D Akikusa, Mihaela Sparchez, Karoline Ehlert, Jordi Anton, Adriana M. Sallum, Maria Cristina Castiglione, Surjit Singh, Julie Jones, Katya Temelkova, Tania S. Amin, Jasmin B Kuemmerle-Deschner, Samantha Bell, Sakda A.-O. Vallipakorn, Manuel Salgado, Filipa Ramos, Balahan Makay, Nadezhda Tsurikova, Gianmaria Viglizzo, Rosalba Ferraro, Sandra Hansmann, Nilgün Çakar, Ismail Dursun, Maria Stavrakidou, T. Bzarova, Sally Pino, Dhouib Amira, Salla Kangas, Antonella Meini, Dirk Foell, Dolunay Gürses, Dace Bērziņa, A. Speziale, Juan I. Arostegui Gorospe, Kelly L. Mieszkalski, Dawn M. Wahezi, S. Davì, Radoslav Srp, Daniel J. Kingsbury, Alexei A Grom, Falcini Fernanda, Peng Yin, Claire T. Deakin, Eva Hlavackova, Pavla Doležalová, Maria Mercedes Picarelli, Ezgi D. Batu, Alessandra Tricarico, Soamarat Vilaiyuk, Ivan Costa-Filho, A. Civino, Lukas Hackl, Pilar Gomez, Michael Hofer, M Manuela Costa, Zbigniew Zuber, Elena Ligostaeva, Carlos D. Rose, Jozef Hoza, Pranoot Tanpaiboon, Bonnie Vlahos, Sandra Garrote Corral, Martina Finetti, Giedre Grigelioniene, Susanne M. Benseler, X Wei, Pieter Van Dijkhuizen, Lee Nelson, Elettra Santori, David Martino, Anju Gupta, Nuray Aktay Ayaz, Noa Rabinowicz, Susan Shenoi, Rachel Chiaroni-Clarke, Claudia Bracaglia, Ruhan Düşünsel, M. Hofer, Rolando Cimaz, Juan I. Aróstegui, Ana Filipa Mourão, Ivonne Arroyo, Laura Damian, Marco F. C. D. Silva, D. J. Lovell, Marta Torcoletti, Clara Malagón, Luisa Klotz, Krisztina Sevcic, Douglas Veale, Belen Serrano Benavente, N. Groot, Polyxeni Pratsidou, Nicole Johnson, Karen Wynne, SR Rodionovskaya, Melania Saifridova, Kaara Tiewsoh, Ryan F. Donnelly, Fernanda Falcini, Valérie Badot, M. G. Alpigiani, L. Breda, Farida Abduragimova, Veronika Gjertsen Rypdal, Sophie Hambleton, E. Chalom, Anna Horne, Antonio Novelli, O. Kostareva, Panagiotis Tziavas, Yara Barrense-Dias, Cecilia Bava, Sarah Ringold, William H. Robinson, Sirirat Charuvanij, D. Kingsbury, Shuichi Ito, Luiz A. A. Pereira, Marcus Herbert Jones, S. I. Valieva, Flavio Sztajnbok, Florence Guilhot, Cristina de Min, Adriana Diaz-Maldonado, Simone A. Lotufo, Beril Talim, M. Heinrich, Paul Newland, and Laura Pagani
Subjects: 030203 arthritis & rheumatology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, Rheumatology, business.industry, 030220 oncology & carcinogenesis, Family medicine, Pediatrics, Perinatology and Child Health, medicine, Immunology and Allergy, business, Paediatric rheumatology
Published: 2017

19. Shift from intravenous or 16% subcutaneous replacement therapy to 20% subcutaneous immunoglobulin in patients with primary antibody deficiencies

Author: Simona Gambini, Angelo Vacca, Francesco Cinetto, Viviana Moschese, Baldassarre Martire, Maria Giovanna Danieli, Jessica Iacopelli, Marco De Carli, Carolina Marasco, Francesco Licciardi, Andrea Finocchi, Alessia Gatta, Antonino Trizzino, Clementina Canessa, Domenico De Mattia, Andrea Matucci, Alessandra Vultaggio, Antonio Pecoraro, Silvana Martino, Chiara Azzari, Giuseppe Spadaro, Mario Di Gioacchino, Carlo Agostini, Cinzia Milito, Alessandro Plebani, Canessa, Clementina, Iacopelli, Jessica, Pecoraro, Antonio, Spadaro, Giuseppe, Matucci, Andrea, Milito, Cinzia, Vultaggio, Alessandra, Agostini, Carlo, Cinetto, Francesco, Danieli, Maria Giovanna, Gambini, Simona, Marasco, Carolina, Trizzino, Antonino, Vacca, Angelo, De Mattia, Domenico, Martire, Baldassarre, Plebani, Alessandro, Di Gioacchino, Mario, Gatta, Alessia, Finocchi, Andrea, Licciardi, Francesco, Martino, Silvana, De Carli, Marco, Moschese, Viviana, and Azzari, Chiara
Subjects: 0301 basic medicine, Male, Subcutaneous immunoglobulin, immunoglobulin replacement, intravenous immunoglobulins, primary immunodeficiency, subcutaneous immunoglobulins, therapy satisfaction, Administration, Intravenous, Adolescent, Adult, Aged, Child, Female, Humans, Immunoglobulin G, Immunoglobulins, Immunoglobulins, Intravenous, Immunologic Deficiency Syndromes, Injections, Subcutaneous, Middle Aged, Young Adult, 0302 clinical medicine, intravenous immunoglobulin, Immunology and Allergy, Young adult, Immunologic Deficiency Syndrome, Incidence (epidemiology), Subcutaneous, Immunology, Pharmacology, Tolerability, Intravenous Immunoglobulins, Anesthesia, Administration, Intravenous, Human, medicine.medical_specialty, Administration, Intravenou, subcutaneous immunoglobulin, Injections, Subcutaneou, Injections, 03 medical and health sciences, Immunoglobulin, medicine, In patient, Letters to the Editor, Adverse effect, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, medicine.disease, Surgery, 030104 developmental biology, Immunoglobulins, Intravenou, Primary immunodeficiency, business, 030215 immunology
Abstract: In patients with primary antibody deficiencies, subcutaneous administration of IgG (SCIG) replacement is effective, safe, well-tolerated, and can be self-administered at home. A new SCIG replacement at 20% concentration (Hizentra®) has been developed and has replaced Vivaglobin® (SCIG 16%). An observational prospective multi-centric open-label study, with retrospective comparison was conducted in 15 Italian centers, in order to investigate whether and to what extent switching to Hizentra® would affect frequency of infusions, number of infusion sites, patients’ satisfaction, and tolerability in patients previously treated with Vivaglobin® or intravenous immunoglobulins (IVIG). Any variations of dosage, frequency and duration of the infusions, and of number of infusion sites induced by Hizentra® with respect to the former treatment were recorded. Practical advantages and disadvantages of Hizentra®, with respect to the medicinal product formerly used, and the variations in patients’ therapy-related satisfaction were monitored by means of the TSQM (Treatment Satisfaction Questionnaire for Medication); number, frequency, and duration of infectious events and adverse effects were recorded. Eighty-two patients switched to Hizentra®: 19 (23.2%) from IVIG and 63 (76.8%) from Vivaglobin®. The mean interval between infusions was not affected by the shift (7.0 ± 2.0 days with previous treatment versus 7.1 ± 1.2 during Hizentra®). A decrease in the number of infusion sites with Hizentra® was recorded in 12 out of 56 patients for whom these data were available. At 6 months, 89.7% of patients were satisfied with Hizentra®; no difference in terms of effectiveness, side effects, convenience, and global satisfaction was observed. No difference in the incidence of adverse events was reported.
Published: 2017

20. Familial segregation of group B streptococcal infection in a consanguineous kindred

Author: Francesco Licciardi, Alessandro Borghesi, Davide Montin, Chryssoula Tzialla, Jacques Fellay, Antonia Versace, and Giuseppina Migliore
Subjects: 0301 basic medicine, Male, Disease, medicine.disease_cause, Group B, Consanguinity, 0302 clinical medicine, Neonatal, Genetics, Primary immunodeficiency, Bacterial, General Medicine, GBS, Genetic, Mendelian, Streptococcus agalactiae, Antibiotic Prophylaxis, Antibodies, Bacterial, Female, Genetic Predisposition to Disease, Humans, Infant, Infant, Newborn, Streptococcal Infections, 3. Good health, Infectious Diseases, symbols, Microbiology (medical), education, Group B Streptococcal Infection, Biology, Antibodies, lcsh:Infectious and parasitic diseases, 03 medical and health sciences, symbols.namesake, Autosomal recessive trait, Immunity, 030225 pediatrics, medicine, lcsh:RC109-216, medicine.disease, bacterial infections and mycoses, Newborn, 030104 developmental biology, Immunology, Mendelian inheritance, bacteria
Abstract: 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. (C) 2016 The Author(s). Published by Elsevier Ltd on behalf of International Society for Infectious Diseases. This is an open access article under the CC BY-NC-ND license.
Published: 2016

21. Epidemiologic Impact of the New Guidelines for the Diagnosis of Acute Rheumatic Fever

Author: Francesco Licciardi, Davide Montin, Pier-Angelo Tovo, Agostina Marolda, Giacomo Scaioli, Silvana Martino, Marta Delle Piane, and Roberta Mulatero
Subjects: Male, medicine.medical_specialty, Adolescent, 030204 cardiovascular system & hematology, Group A, Group B, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, acute rheumatic fever, high-risk criteria, incidence, Jones criteria, Child, Child, Preschool, Female, Humans, Incidence, Italy, Practice Guidelines as Topic, Retrospective Studies, Rheumatic Fever, Seasons, Sex Distribution, Epidemiology, medicine, In patient, 030212 general & internal medicine, Preschool, business.industry, Incidence (epidemiology), Acute rheumatic fever, Northern italy, Pediatrics, Perinatology and Child Health, High incidence, business
Abstract: Objectives To estimate the incidence of acute rheumatic fever (ARF) in a metropolitan area of Northern Italy and study how the introduction of the 2015 revised Jones criteria affects the epidemiology in a region with moderate to high incidence of ARF. Study design The incidence of ARF in children 5-14 years old living in the Province of Turin was estimated using low-risk criteria in a 10-year period (group A patients). The proportion of patients fulfilling only high-risk (HR) criteria (group B patients) was also calculated both prospectively (from July 2015 through December 2016) and retrospectively (from January 2007 through June 2015). Results One hundred thirty-five group A patients were identified for an annual incidence of 3.2-9.6 out of 100 000 children. The use of HR criteria identified an additional 28 patients (group B), resulting in a 20.7% increase in the incidence of ARF. Age, sex annual incidence, and seasonal distribution pattern were comparable between group A and group B patients. Conclusions HR criteria should be used for the diagnosis ARF in our region. The application of these criteria led to a 20% increase in patients with the diagnosis of ARF. The characteristics of patients fulfilling only HR criteria are similar to the remaining patients, suggesting that these criteria are sensitive and specific.
Published: 2018

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21 results on '"Francesco Licciardi"'

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

2. 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

3. Peculiar immunophenotypic signature in MIS‐C‐affected children

4. Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes

5. Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency

6. Antimicrobial stewardship experience in paediatrics: first-year activity report

7. COVID-19 and what pediatric rheumatologists should know: a review from a highly affected country

8. SARS-CoV-2-Induced Kawasaki-Like Hyperinflammatory Syndrome: A Novel COVID Phenotype in Children

9. COVID-19 in Children: Expressions of Type I/II/III Interferons, TRIM28, SETDB1, and Endogenous Retroviruses in Mild and Severe Cases

10. Low synovial double negative T and γδ T cells predict longer free-disease survival in oligoarticular JIA

11. Correction to: The Italian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

12. Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

13. Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 deletion syndrome

14. Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

15. NFKB2 regulates human Tfh and Tfr pool formation and germinal center potential

16. Circulating follicular helper and follicular regulatory T cells are severely compromised in human CD40 deficiency: A case report

17. The Italian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

18. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two

19. Shift from intravenous or 16% subcutaneous replacement therapy to 20% subcutaneous immunoglobulin in patients with primary antibody deficiencies

20. Familial segregation of group B streptococcal infection in a consanguineous kindred

21. Epidemiologic Impact of the New Guidelines for the Diagnosis of Acute Rheumatic Fever

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