8 results on '"Dellepiane, Rosa Maria"'
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2. The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet)
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Giuliana Giardino, Cinzia Milito, Vassilios Lougaris, Alessandra Punziano, Maria Carrabba, Francesco Cinetto, Riccardo Scarpa, Rosa Maria Dellepiane, Silvia Ricci, Beatrice Rivalta, Francesca Conti, Antonio Marzollo, Davide Firinu, Emilia Cirillo, Gianluca Lagnese, Caterina Cancrini, Baldassare Martire, Maria Giovanna Danieli, Andrea Pession, Angelo Vacca, Chiara Azzari, Giovanna Fabio, Annarosa Soresina, Carlo Agostini, Giuseppe Spadaro, Raffaele Badolato, Maria Pia Cicalese, Alessandro Aiuti, Alessandro Plebani, Isabella Quinti, Claudio Pignata, Giardino, Giuliana, Milito, Cinzia, Lougaris, Vassilio, Punziano, Alessandra, Carrabba, Maria, Cinetto, Francesco, Scarpa, Riccardo, Dellepiane, Rosa Maria, Ricci, Silvia, Rivalta, Beatrice, Conti, Francesca, Marzollo, Antonio, Firinu, Davide, Cirillo, Emilia, Lagnese, Gianluca, Cancrini, Caterina, Martire, Baldassare, Danieli, Maria Giovanna, Pession, Andrea, Vacca, Angelo, Azzari, Chiara, Fabio, Giovanna, Soresina, Annarosa, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Cicalese, Maria Pia, Aiuti, Alessandro, Plebani, Alessandro, Quinti, Isabella, and Pignata, Claudio
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Adult ,Male ,SARS-CoV-2 ,COVID-19 ,Inborn errors of immunity ,Outcome ,Seroconversion ,Viral shedding ,Immunology ,Hospitalization ,Common Variable Immunodeficiency ,Post-Acute COVID-19 Syndrome ,Settore MED/02 ,Immunology and Allergy ,Humans ,Female ,Child ,Retrospective Studies - Abstract
COVID-19 manifestations range from asymptomatic to life-threatening infections. The outcome in different inborn errors of immunity (IEI) is still a matter of debate. In this retrospective study, we describe the experience of the of the Italian Primary Immunodeficiencies Network (IPINet). Sixteen reference centers for adult or pediatric IEI were involved. One hundred fourteen patients were enrolled including 35 pediatric and 79 adult patients. Median age was 32 years, and male-to-female ratio was 1.5:1. The most common IEI were 22q11.2 deletion syndrome in children (26%) and common variable immunodeficiency (CVID) in adults (65%). Ninety-one patients did not require hospital admission, and among these, 33 were asymptomatic. Hospitalization rate was 20.17%. Older age (p 0.004) and chronic lung disease (p 0.0008) represented risk factors for hospitalization. Hospitalized patients mainly included adults suffering from humoral immunodeficiencies requiring immunoglobulin replacement therapy and as expected had lower B cell counts compared to non-hospitalized patients. Infection fatality rate in the whole cohort was 3.5%. Seroconversion was observed is 86.6% of the patients evaluated and in 83.3% of CVID patients. 16.85% of the patients reported long-lasting COVID symptoms. All but one patient with prolonged symptoms were under IgRT. The fatality rate observed in IEI was slightly similar to the general population. The age of the patients who did not survive was lower compared to the general population, and the age stratified mortality in the 50–60 age range considerable exceeded the mortality from 50 to 60 age group of the Italian population (14.3 vs 0.6%; p
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- 2022
3. Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey
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Cattalini 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.
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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.
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- 2020
4. Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity
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Baldassarre Martire, Luciana Chessa, Alessandro Plebani, Francesca Conti, Andrea Finocchi, Francesca Ferrua, Laura Dotta, Clementina Canessa, Vassilios Lougaris, Donato Amodio, Emilia Cirillo, Davide Montin, Federica Barzaghi, Franco Locatelli, Alberto Tommasini, Viviana Moschese, Maria Pia Cicalese, Rosa Maria Dellepiane, Andrea Pession, Chiara Azzari, Lucia Augusta Baselli, Caterina Cancrini, Maria Caterina Putti, Raffaele Badolato, Alessandro Aiuti, Claudio Pignata, Annarosa Soresina, Roberta Romano, Silvia Ricci, Agata Polizzi, Antonio Marzollo, Giuliana Giardino, Cirillo, E., Giardino, G., Ricci, S., Moschese, V., Lougaris, V., Conti, F., Azzari, C., Barzaghi, F., Canessa, C., Martire, B., Badolato, R., Dotta, L., Soresina, A., Cancrini, C., Finocchi, A., Montin, D., Romano, R., Amodio, D., Ferrua, F., Tommasini, A., Baselli, L. A., Dellepiane, R. M., Polizzi, A., Chessa, L., Marzollo, A., Cicalese, M. P., Putti, M. C., Pession, A., Aiuti, A., Locatelli, F., Plebani, A., Pignata, C., Cirillo, Emilia, Giardino, Giuliana, Ricci, Silvia, Moschese, Viviana, Lougaris, Vassilio, Conti, Francesca, Azzari, Chiara, Barzaghi, Federica, Canessa, Clementina, Martire, Baldassarre, Badolato, Raffaele, Dotta, Laura, Soresina, Annarosa, Cancrini, Caterina, Finocchi, Andrea, Montin, Davide, Romano, Roberta, Amodio, Antonio, Ferrua, Francesca, Tommasini, Alberto, Baselli, Lucia Augusta, Dellepiane, Rosa Maria, Polizzi, Agata, Chessa, Luciana, Marzollo, Antonio, Cicalese, Mariapia, Putti, Maria Caterina, Pession, Andrea, Aiuti, Alessandro, Locatelli, Franco, Plebani, Alessandro, and Pignata, Claudio
- Subjects
0301 basic medicine ,Stress management ,DiGeorge syndrome ,Italian Network of Primary Immunodeficiencies ,Transitional care ,combined immunodeficiency ,dna-repai syndromes ,humoral immune defects ,inborn errors of immunity ,innate immune defects ,primary immunodeficiency ,DNA repair syndromes ,0302 clinical medicine ,Italian Network of Primary Immunodeficiencie ,Intellectual disability ,Immunology and Allergy ,Medicine ,dna-repai syndrome ,Age of Onset ,Child ,Settore MED/38 ,Italy ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,Practice Guidelines as Topic ,Adult ,medicine.medical_specialty ,Transition to Adult Care ,Consensus ,Genetic counseling ,Primary Immunodeficiency Diseases ,Immunology ,humoral immune defect ,03 medical and health sciences ,Quality of life (healthcare) ,Humans ,Information Services ,business.industry ,Common variable immunodeficiency ,medicine.disease ,DNA repair syndrome ,030104 developmental biology ,Family medicine ,Primary immunodeficiency ,Age of onset ,business ,innate immune defect ,030217 neurology & neurosurgery - Abstract
Medical advances have dramatically improved the long-term prognosis of children and adolescents with inborn errors of immunity (IEIs). Transfer of the medical care of individuals with pediatric IEIs to adult facilities is also a complex task because of the large number of distinct disorders, which requires involvement of patients and both pediatric and adult care providers. To date, there is no consensus on the optimal pathway of the transitional care process and no specific data are available in the literature regarding patients with IEIs. We aimed to develop a consensus statement on the transition process to adult health care services for patients with IEIs. Physicians from major Italian Primary Immunodeficiency Network centers formulated and answered questions after examining the currently published literature on the transition from childhood to adulthood. The authors voted on each recommendation. The most frequent IEIs sharing common main clinical problems requiring full attention during the transitional phase were categorized into different groups of clinically related disorders. For each group of clinically related disorders, physicians from major Italian Primary Immunodeficiency Network institutions focused on selected clinical issues representing the clinical hallmark during early adulthood.
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- 2020
5. Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 deletion syndrome
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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
6. Circulating follicular helper and follicular regulatory T cells are severely compromised in human CD40 deficiency: A case report
- Author
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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
7. Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis
- Author
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Mara Giordano, Luca De Maso, Laura Dell'Era, Paolo Macor, Rosa Maria Dellepiane, Massimo Cugno, Paola Pavesi, Maria Cristina Pietrogrande, Dellepiane, Rosa Maria, Dell'Era, Laura, Pavesi, Paola, Macor, Paolo, Giordano, Mara, De Maso, Luca, Pietrogrande, Maria Cristina, and Cugno, Massimo
- Subjects
0301 basic medicine ,Male ,Necrosis ,Neisseria meningitidis ,medicine.disease_cause ,0302 clinical medicine ,Genetics(clinical) ,Pharmacology (medical) ,Antibiotic prophylaxis ,Child ,Genetics (clinical) ,Medicine(all) ,Meningococcal disease ,Medicine (all) ,General Medicine ,Complement C8 ,Anti-Bacterial Agents ,Vaccination ,Child, Preschool ,Female ,medicine.symptom ,Adult ,Complement deficiency ,Adolescent ,C8 deficiency ,Meningococcal Vaccines ,03 medical and health sciences ,Young Adult ,Neisseria meningitidi ,medicine ,Humans ,Genetic Testing ,business.industry ,Siblings ,Research ,Immunologic Deficiency Syndromes ,Amoxicillin ,Infant ,medicine.disease ,Complement system ,Meningococcal Infections ,030104 developmental biology ,Gene Expression Regulation ,Case-Control Studies ,Immunology ,Primary immunodeficiency ,business ,030215 immunology - Abstract
Background Deficiency of the eighth component of complement (C8) is a very rare primary immunodeficiency, associated with invasive, recurrent infections mainly caused by Neisseria species. We report functional and immunochemical C8 deficiency diagnosed in three Albanian siblings who presented with severe meningococcal infections at the age of 15 years, 4 years and 17 months, respectively. The youngest suffered serious complications (necrosis of fingers and toes requiring amputation). Methods Functional activity of the classical, alternative and mannose-binding lectin complement pathways was measured in serum from the 3 siblings and their parents (37-year-old woman and 42-year-old man). Forty healthy subjects (20 males and 20 females aged 4–38 years) served as normal controls. Serum complement factors were measured by haemolytic assays and immunoblotting. Sequence DNA analysis of the C8B gene was performed. Results Analyses of the three complement pathways revealed no haemolytic activity and also absence of C8beta in serum samples from all three siblings. The genetic analysis showed that the three siblings were homozygous for the p.Arg428* mutation in the C8B gene on chromosome 1p32 (MIM 120960). The parents were heterozygous for the mutation and presented normal complement activities. A 2-year follow-up revealed no further infective episodes in the siblings after antibiotic prophylaxis and meningococcal vaccination. Conclusions Complement deficiencies are rare and their occurrence is often underestimated. In presence of invasive meningococcal infection, we highlight the importance of complement screening in patients and their relatives in order to discover any genetic defects which would render necessary prophylaxis to prevent recurrent infections and severe complications.
- Published
- 2016
8. Nutritional Status in Agammaglobulinemia: An Italian Multicenter Study
- Author
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Viviana Moschese, Marzia Duse, Giuseppe Patuzzo, M. Raimondi, Gian Luigi Marseglia, Silvana Martino, Laura Dell'Era, Fernando Specchia, Giuseppe Spadaro, Maria Cristina Pietrogrande, Lorena Vanesa Beilis, Annarosa Soresina, Giovanna Russo, Paola Pavesi, Baldassarre Martire, Maria Carrabba, Vassilios Lougaris, Romina Gallizzi, Claudio Pignata, Rosa Maria Dellepiane, Carlo Agostoni, Giorgio Bedogni, Dellepiane, Rosa Maria, Dell'Era, Laura, Beilis, Lorena Vanesa, Pavesi, Paola, Raimondi, Micol, Soresina, Annarosa, Lougaris, Vassilio, Carrabba, Maria, Martire, Baldassarre, Martino, Silvana, Russo, Giovanna, Patuzzo, Giuseppe, Pignata, Claudio, Spadaro, Giuseppe, Gallizzi, Romina, Duse, Marzia, Specchia, Fernando Giuseppe, Moschese, Viviana, Marseglia, Gian Luigi, Pietrogrande, Maria Cristina, Bedogni, Giorgio, and Agostoni, Carlo
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Chronic Obstructive Pulmonary Disease, Nutritional Status, Standard Deviation Score, Tertiary Care Center, Primary Immunodeficiency ,Immunology ,Nutritional Status ,Body Mass Index ,Young Adult ,Agammaglobulinemia ,Primari Immunodeficiency ,nutritional status ,medicine ,Humans ,Immunology and Allergy ,Obesity ,Child ,Settore MED/38 - Pediatria Generale e Specialistica ,Anthropometry ,business.industry ,agammaglobulinemia ,Infant, Newborn ,Follow up studies ,Infant ,Genetic Diseases, X-Linked ,Nutritional status ,Child, Preschool ,Female ,Follow-Up Studies ,Italy ,Infant newborn ,Multicenter study ,Family medicine ,antibody deficiency, nutritional status, primary immunodeficiency ,NA ,business - Abstract
Although primary antibody deficiencies may be associated with undernutrition, there is just one published study on the nutritional status of patients with primary immunodeficiencies. In this multi-center study of XLA and ARA patients, overweight and obesity (38 %) were much more common than undernutrition (5 %). The low frequency of undernutrition is at least partly attributable to the appropriate immunoglobulin replacement therapy, which is known to decrease the occurrence of infectious disease and to increase the life expectancy. In conclusion, the most interesting finding of this study is the unexpected high frequency of apparent overnutrition with excess body weight in a group of XLA and ARA patients. No one displayed enough features justifying the diagnosis of metabolic syndrome.
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