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2. Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job’s syndrome

Author

Carrabba, Maria, Dellepiane, Rosa Maria, Cortesi, Manuela, Baselli, Lucia Augusta, Soresina, Annarosa, Cirillo, Emilia, Giardino, Giuliana, Conti, Francesca, Dotta, Laura, Finocchi, Andrea, Cancrini, Caterina, Milito, Cinzia, Pacillo, Lucia, Cinicola, Bianca Laura, Cossu, Fausto, Consolini, Rita, Montin, Davide, Quinti, Isabella, Pession, Andrea, Fabio, Giovanna, Pignata, Claudio, Pietrogrande, Maria Cristina, and Badolato, Raffaele

Published
2023
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3. Risk factors and scores for prediction of coronary artery aneurysms in Kawasaki disease: a European monocentric study

Author

La Vecchia, A, Stracquadaino, R, Mauri, L, Baselli, L, Abdallah, R, Cucchetti, M, Colli, A, Agostoni, C, Dellepiane, R, La Vecchia, Adriano, Stracquadaino, Rita, Mauri, Lucia, Baselli, Lucia Augusta, Abdallah, Rozan, Cucchetti, Martina, Colli, Anna Maria, Agostoni, Carlo, Dellepiane, Rosa Maria, La Vecchia, A, Stracquadaino, R, Mauri, L, Baselli, L, Abdallah, R, Cucchetti, M, Colli, A, Agostoni, C, Dellepiane, R, La Vecchia, Adriano, Stracquadaino, Rita, Mauri, Lucia, Baselli, Lucia Augusta, Abdallah, Rozan, Cucchetti, Martina, Colli, Anna Maria, Agostoni, Carlo, and Dellepiane, Rosa Maria

Abstract

Background: Japanese Kawasaki disease (KD) risk scores cannot be adopted in non-Japanese patients. In North American populations a baseline coronary artery Z-score > 2 and the Son score are associated with coronary artery aneurysms (CAAs) at 4 and 8 weeks from disease onset. In European populations, the Kawanet and Kawanet-echo scores are associated with intravenous immunoglobulin resistance. This study aims to evaluate the association between KD risk scores and baseline coronary artery Z-scores with CAAs at one, two, and six months in a European population. Methods: Historical cohort study of all the children diagnosed with KD in a tertiary care hospital in Milan, Italy, between 1st January 2015 and 31st May 2021. Univariate and multivariate (adjusting for age and corticosteroid therapy) logistic regression analyses were used to study the association between the risk scores, a baseline Z-score ≥ 2 and ≥ 2.5 with CAAs. Results: Eighty-nine patients were diagnosed with KD at our Centre, and 12 were excluded based on the exclusion criteria. We included 77 patients, 51 (66%) males, and 26 (34%) females, with a median age at presentation of 27 months (IQR 13–46). A baseline Z-score ≥ 2 was correlated with CAAs at one and two-month follow-ups (odds ratio (OR) 10, 95% confidence interval (CI) 2–72, and OR 18, CI 3-357) but not at six-month follow-up. The Son score showed an association with one and two-month follow-up CAAs (OR 3, CI 1.3-7, and OR 3, CI 1.3-8) but not with a six-month follow-up. Conclusions: Patients with a baseline Z-score ≥ 2 are at higher risk for CAAs in the long term. The Son score should be tested in larger European samples. Further studies should keep the observational periods longer than 8 weeks from KD onset.

Published
2024

4. MicroRNA dysregulation in ataxia telangiectasia.

Author

Cirillo, Emilia, Tarallo, Antonietta, Toriello, Elisabetta, Carissimo, Annamaria, Giardino, Giuliana, De Rosa, Antonio, Damiano, Carla, Soresina, Annarosa, Badolato, Raffaele, Dellepiane, Rosa Maria, Baselli, Lucia A., Carrabba, Maria, Fabio, Giovanna, Bertolini, Patrizia, Montin, Davide, Conti, Francesca, Romano, Roberta, Pozzi, Elisa, Ferrero, Giulio, and Roncarati, Roberta

Subjects
GENE expression, MONONUCLEAR leukocytes, ATAXIA telangiectasia, DNA repair, BLOOD testing
Abstract

Introduction: Ataxia telangiectasia (AT) is a rare disorder characterized by neurodegeneration, combined immunodeficiency, a predisposition to malignancies, and high clinical variability. Profiling of microRNAs (miRNAs) may offer insights into the underlying mechanisms of complex rare human diseases, as miRNAs play a role in various biological functions including proliferation, differentiation, and DNA repair. In this study, we investigate the differential expression of miRNAs in samples from AT patients to identify miRNA patterns and analyze how these patterns are related to the disease. Methods: We enrolled 20 AT patients (mean age 17.7 ± 9.6 years old) and collected clinical and genetic data. We performed short non-coding RNA-seq analysis on peripheral blood mononuclear cells (PBMCs) and fibroblasts to compare the miRNA expression profile between AT patients and controls. Results: We observed 42 differentially expressed (DE)-miRNAs in blood samples and 26 in fibroblast samples. Among these, three DE-miRNAs, miR-342-3p, miR30a-5p, and miR-195-5p, were further validated in additional AT samples, confirming their dysregulation. Discussion: We identified an AT-related miRNA signature in blood cells and fibroblast samples collected from a group of AT patients. We also predicted several dysregulated pathways, primarily related to cancer, immune system control, or inflammatory processes. The findings suggest that miRNAs may provide insights into the pathophysiology and tumorigenesis of AT and have the potential to serve as useful biomarkers in cancer research. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Revised recommendations of the Italian Society of Pediatrics about the general management of Kawasaki disease

Author

Marchesi, Alessandra, Rigante, Donato, Cimaz, Rolando, Ravelli, Angelo, Tarissi de Jacobis, Isabella, Rimini, Alessandro, Cardinale, Fabio, Cattalini, Marco, De Zorzi, Andrea, Dellepiane, Rosa Maria, Salice, Patrizia, Secinaro, Aurelio, Taddio, Andrea, Palma, Paolo, El Hachem, Maya, Cortis, Elisabetta, Maggio, Maria Cristina, Corsello, Giovanni, and Villani, Alberto

Published
2021
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6. Preventing HIV mother-to-child transmission in a vertically infected pregnant woman with multiclass drug resistance, role of bis-in-die dolutegravir and neonatal AZT prophylaxis: A case report

Author

Saltini, Paola, primary, Tassis, Beatrice, additional, Ronchi, Alice, additional, Tagliabue, Claudia, additional, Di Pietro, Giada, additional, Dellepiane, Rosa Maria, additional, Muscatello, Antonio, additional, Giacomelli, Andrea, additional, Pugni, Lorenza, additional, Ferrazzi, Enrico, additional, Bandera, Alessandra, additional, and Bozzi, Giorgio, additional

Published
2023
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9. Development of a score for early identification of children with Kawasaki disease requiring second-line treatment in multi-ethnic populations in Europe: A multicentre retrospective cohort study

Author

Ouldali, Naim, primary, Dellepiane, Rosa Maria, additional, Torreggiani, Sofia, additional, Mauri, Lucia, additional, Beaujour, Gladys, additional, Beyler, Constance, additional, Cucchetti, Martina, additional, Dumaine, Cécile, additional, La Vecchia, Adriano, additional, Melki, Isabelle, additional, Stracquadaino, Rita, additional, Vinit, Caroline, additional, Cimaz, Rolando, additional, and Meinzer, Ulrich, additional

Published
2022
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10. Kawasaki disease: guidelines of Italian Society of Pediatrics, part II - treatment of resistant forms and cardiovascular complications, follow-up, lifestyle and prevention of cardiovascular risks

Author

Marchesi, Alessandra, Tarissi de Jacobis, Isabella, Rigante, Donato, Rimini, Alessandro, Malorni, Walter, Corsello, Giovanni, Bossi, Grazia, Buonuomo, Sabrina, Cardinale, Fabio, Cortis, Elisabetta, De Benedetti, Fabrizio, De Zorzi, Andrea, Duse, Marzia, Del Principe, Domenico, Dellepiane, Rosa Maria, D’Isanto, Livio, El Hachem, Maya, Esposito, Susanna, Falcini, Fernanda, Giordano, Ugo, Maggio, Maria Cristina, Mannarino, Savina, Marseglia, Gianluigi, Martino, Silvana, Marucci, Giulia, Massaro, Rossella, Pescosolido, Christian, Pietraforte, Donatella, Pietrogrande, Maria Cristina, Salice, Patrizia, Secinaro, Aurelio, Straface, Elisabetta, and Villani, Alberto

Published
2018
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11. Kawasaki disease: guidelines of the Italian Society of Pediatrics, part I - definition, epidemiology, etiopathogenesis, clinical expression and management of the acute phase

Author

Marchesi, Alessandra, Tarissi de Jacobis, Isabella, Rigante, Donato, Rimini, Alessandro, Malorni, Walter, Corsello, Giovanni, Bossi, Grazia, Buonuomo, Sabrina, Cardinale, Fabio, Cortis, Elisabetta, De Benedetti, Fabrizio, De Zorzi, Andrea, Duse, Marzia, Del Principe, Domenico, Dellepiane, Rosa Maria, D’Isanto, Livio, El Hachem, Maya, Esposito, Susanna, Falcini, Fernanda, Giordano, Ugo, Maggio, Maria Cristina, Mannarino, Savina, Marseglia, Gianluigi, Martino, Silvana, Marucci, Giulia, Massaro, Rossella, Pescosolido, Christian, Pietraforte, Donatella, Pietrogrande, Maria Cristina, Salice, Patrizia, Secinaro, Aurelio, Straface, Elisabetta, and Villani, Alberto

Published
2018
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12. Multiple Breath Washout for Early Assessment of Pulmonary Complications in Patients With Primary Antibody Deficiencies: An Observational Study in Pediatric Age

Author

Secchi, Teresa, primary, Baselli, Lucia Augusta, additional, Russo, Maria Chiara, additional, Borzani, Irene Maria, additional, Carta, Federica, additional, Lopopolo, Maria Amalia, additional, Foà, Michaela, additional, La Vecchia, Adriano, additional, Agostoni, Carlo, additional, Agosti, Massimo, additional, and Dellepiane, Rosa Maria, additional

Published
2022
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14. Additional file 2 of Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey

Author

Cattalini, Marco, Paolera, Sara Della, Zunica, Fiammetta, Bracaglia, Claudia, Giangreco, Manuela, Verdoni, Lucio, Meini, Antonella, Sottile, Rita, Caorsi, Roberta, Zuccotti, Gianvincenzo, Fabi, Marianna, Montin, Davide, Meneghel, Alessandra, Consolaro, Alessandro, Dellepiane, Rosa Maria, Maggio, Maria Cristina, Torre, Francesco La, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, and Taddio, Andrea

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

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

Published
2021
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15. Additional file 1 of Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey

Author

Cattalini, Marco, Paolera, Sara Della, Zunica, Fiammetta, Bracaglia, Claudia, Giangreco, Manuela, Verdoni, Lucio, Meini, Antonella, Sottile, Rita, Caorsi, Roberta, Zuccotti, Gianvincenzo, Fabi, Marianna, Montin, Davide, Meneghel, Alessandra, Consolaro, Alessandro, Dellepiane, Rosa Maria, Maggio, Maria Cristina, Torre, Francesco La, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, and Taddio, Andrea

Abstract

Additional file 1: Appendix 1.

Published
2021
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16. Additional file 3 of Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey

Author

Cattalini, Marco, Paolera, Sara Della, Zunica, Fiammetta, Bracaglia, Claudia, Giangreco, Manuela, Verdoni, Lucio, Meini, Antonella, Sottile, Rita, Caorsi, Roberta, Zuccotti, Gianvincenzo, Fabi, Marianna, Montin, Davide, Meneghel, Alessandra, Consolaro, Alessandro, Dellepiane, Rosa Maria, Maggio, Maria Cristina, Torre, Francesco La, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, and Taddio, Andrea

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

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

Published
2021
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17. Additional file 4 of Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey

Author

Cattalini, Marco, Paolera, Sara Della, Zunica, Fiammetta, Bracaglia, Claudia, Giangreco, Manuela, Verdoni, Lucio, Meini, Antonella, Sottile, Rita, Caorsi, Roberta, Zuccotti, Gianvincenzo, Fabi, Marianna, Montin, Davide, Meneghel, Alessandra, Consolaro, Alessandro, Dellepiane, Rosa Maria, Maggio, Maria Cristina, Torre, Francesco La, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, and Taddio, Andrea

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

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

Published
2021
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18. Additional file 5 of Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey

Author

Cattalini, Marco, Paolera, Sara Della, Zunica, Fiammetta, Bracaglia, Claudia, Giangreco, Manuela, Verdoni, Lucio, Meini, Antonella, Sottile, Rita, Caorsi, Roberta, Zuccotti, Gianvincenzo, Fabi, Marianna, Montin, Davide, Meneghel, Alessandra, Consolaro, Alessandro, Dellepiane, Rosa Maria, Maggio, Maria Cristina, Torre, Francesco La, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, and Taddio, Andrea

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

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

Published
2021
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21. Double-Blind, Placebo-Controlled Randomized Trial on Low Dose Azithromycin Prophilaxis in Primary Antibody Deficiencies

Author

Milito, Cinzia, Pulvirenti, Federica, Cinetto, Francesco, Lougaris, Vassilios, Soresina, Annarosa, Pecoraro, Antonio, Vultaggio, Alessandra, Carrabba, Maria, Lassandro, Giuseppe, Plebani, Alessandro, Spadaro, Giuseppe, Matucci, Andrea, Fabio, Giovanna, Dellepiane, Rosa Maria, Martire, Baldassarre, Agostini, Carlo, Abeni, Damiano, Tabolli, Stefano, and Quinti, Isabella

Subjects
Primary Antibody DefectsAzithromycinAntibiotic ProphylaxisRespiratory exacerbationCOPD, Respiratory exacerbation, Antibiotic Prophylaxis, Azithromycin, COPD, Primary Antibody Defects
Published
2019

22. Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey.

Author

Cattalini, Marco, Della Paolera, Sara, Zunica, Fiammetta, Bracaglia, Claudia, Giangreco, Manuela, Verdoni, Lucio, Meini, Antonella, Sottile, Rita, Caorsi, Roberta, Zuccotti, Gianvincenzo, Fabi, Marianna, Montin, Davide, Meneghel, Alessandra, Consolaro, Alessandro, Dellepiane, Rosa Maria, Maggio, Maria Cristina, La Torre, Francesco, Marchesi, Alessandra, Simonini, Gabriele, and Villani, Alberto

Subjects
SARS-CoV-2, FISHER exact test, CHI-squared test, ASPIRIN, COVID-19, MULTISYSTEM inflammatory syndrome in children, MUCOCUTANEOUS lymph node syndrome
Abstract

Background: There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome-temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining whether KD and PIMS are two distinct entities. Methods: The Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD (Kawasaki Disease Group – KDG) or KD-like (Kawacovid Group - KCG) disease between February 1st 2020, and May 31st 2020. Demographic, clinical, laboratory data, treatment information, and patients' outcome were collected in an online anonymized database (RedCAP®). Relationship between clinical presentation and SARS-CoV-2 infection was also taken into account. Moreover, clinical characteristics of KDG during SARS-CoV-2 epidemic (KDG-CoV2) were compared to Kawasaki Disease patients (KDG-Historical) seen in three different Italian tertiary pediatric hospitals (Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste; AOU Meyer, Florence; IRCCS Istituto Giannina Gaslini, Genoa) from January 1st 2000 to December 31st 2019. Chi square test or exact Fisher test and non-parametric Wilcoxon Mann-Whitney test were used to study differences between two groups. Results: One-hundred-forty-nine cases were enrolled, (96 KDG and 53 KCG). KCG children were significantly older and presented more frequently from gastrointestinal and respiratory involvement. Cardiac involvement was more common in KCG, with 60,4% of patients with myocarditis. 37,8% of patients among KCG presented hypotension/non-cardiogenic shock. Coronary artery abnormalities (CAA) were more common in the KDG. The risk of ICU admission were higher in KCG. Lymphopenia, higher CRP levels, elevated ferritin and troponin-T characterized KCG. KDG received more frequently immunoglobulins (IVIG) and acetylsalicylic acid (ASA) (81,3% vs 66%; p = 0.04 and 71,9% vs 43,4%; p = 0.001 respectively) as KCG more often received glucocorticoids (56,6% vs 14,6%; p < 0.0001). SARS-CoV-2 assay more often resulted positive in KCG than in KDG (75,5% vs 20%; p < 0.0001). Short-term follow data showed minor complications. Comparing KDG with a KD-Historical Italian cohort (598 patients), no statistical difference was found in terms of clinical manifestations and laboratory data. Conclusion: Our study suggests that SARS-CoV-2 infection might determine two distinct inflammatory diseases in children: KD and PIMS-TS. Older age at onset and clinical peculiarities like the occurrence of myocarditis characterize this multi-inflammatory syndrome. Our patients had an optimal response to treatments and a good outcome, with few complications and no deaths. [ABSTRACT FROM AUTHOR]

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

Author

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

Published
2018
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25. Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study

Author

Channon-Wells, Samuel, Vito, Ortensia, McArdle, Andrew J, Seaby, Eleanor G, Patel, Harsita, Shah, Priyen, Pazukhina, Ekaterina, Wilson, Clare, Broderick, Claire, D'Souza, Giselle, Keren, Ilana, Nijman, Ruud G, Tremoulet, Adriana, Munblit, Daniel, Ulloa-Gutierrez, Rolando, Carter, Michael J, Ramnarayan, Padmanabhan, De, Tisham, Hoggart, Clive, Whittaker, Elizabeth, Herberg, Jethro A, Kaforou, Myrsini, Cunnington, Aubrey J, Blyuss, Oleg, Levin, Michael, Chouli, Mohamed, Hamadouche, Nacera, Ladj, Mohamed Samir, Agrimbau Vázquez, Jorge, Carmona, Rodrigo, Collia, Adrian Gustavo, Ellis, Alejandro, Natta, Diego, Pérez, Laura, Rubiños, Mayra, Veliz, Natalia, Yori, Silvana, Britton, Philip N., Burgner, David P., Carey, Emma, Crawford, Nigel W., Giuliano, Hayley, McMinn, Alissa, Wong, Shirley, Wood, Nicholas, Holter, Wolfgang, Krainz, Matthias, Ulreich, Raphael, Zurl, Christoph, Dehoorne, Jo, Haerynck, Filomeen, Hoste, Levi, Schelstraete, Petra, Vandekerckhove, Kristof, Willems, Jef, Almeida Farias, Camila Giuliana, Almeida, Flávia Jacqueline, Alves Leal, Izabel, Araujo da Silva, André Ricardo, Araujo e Silva, Anna Esther, Barreiro, Sabrina T.A., Bomfim Prado da Silva, Daniella Gregória, Cervi, Maria Celia, dos Santos Naja Cardoso, Mirian Viviane, Henriques Teixeira, Cristiane, Jarovsky, Daniel, Martins Araujo, Julienne, Naaman Berezin, Eitan, Palazzi Sáfadi, Marco Aurélio, Paternina-de la Ossa, Rolando Andres, Souza Vieira, Cristina, Dimitrova, Anna, Ganeva, Margarita, Stefanov, Stefan, Telcharova-Mihaylovska, Albena, Biggs, Catherine M., Lopez, Alison, Scuccimarri, Rosie, Tan, Ryan, Wasserman, Sam, Withington, Davinia, Ampuero, Camila, Aravena, Javiera, Bustos B, Raul, Casanova, Daniel, Cruces, Pablo, Diaz, Franco, García-Salum, Tamara, Godoy, Loreto, Medina, Rafael A., Valenzuela Galaz, Gonzalo, Camacho-Moreno, Germán, Avila-Aguero, María L., Brenes-Chacón, Helena, Camacho-Badilla, Kattia, Ivankovich-Escoto, Gabriela, Naranjo-Zuniga, Gabriela, Soriano-Fallas, Alejandra, Yock-Corrales, Adriana, Amer, Maysa Abbas, Abdelmeguid, Yasmine, Ahmed, Yomna H.H.Z., Badib, Adham, Badreldin, Karim, Elkhashab, Yara, Heshmat, Hassan, Hussein, Amna, Mohamed Hussein, Amna Hussein, Ibrahim, Sandra, Shoman, Walaa, Yakout, Radwa M, Heinonen, Santtu, Angoulvant, François, Belot, Alexandre, Ouldali, Naïm, Beske, Florian, Heep, Axel, Masjosthusmann, Katja, Reiter, Karl, van den Heuvel, Ingeborg, von Both, Ulrich, Agrafiotou, Aikaterini, Antachopoulos, Charalampos, Charisi, Konstantina, Eleftheriou, Irini, Farmaki, Evangelia, Fotis, Lampros, Kafetzis, Dimitrios, Koletsi, Patra, Kourtesi, Katerina, Lampidi, Stavroula, Liakopoulou, Theodota, Maritsi, Despoina, Michailidou, Elisa, Milioudi, Maria, Mparmpounaki, Ioanna, Papadimitriou, Eleni, Papaevangelou, Vassiliki, Roilides, Emmanuel, Tsiatsiou, Olga, Tsolas, Georgios, Tsolia, Maria, Vantsi, Petrina, Banegas Pineda, Linda Yajeira, Borjas Aguilar, Karla Leversia, Cantillano Quintero, Edwin Mauricio, Ip, Patrick, Kwan, Mike Yat Wah, Kwok, Janette, Lau, Yu Lung, To, Kelvin, Wong, Joshua Sung Chih, David, Mate, Farkas, David, Kalcakosz, Szofia, Szekeres, Klaudia, Zsigmond, Borbala, Aslam, Nadeem, Luder, Anthony, Andreozzi, Laura, Bianco, Francesco, Bucciarelli, Valentina, Buonsenso, Danilo, Cimaz, Rolando, De Luca, Maia, Dellepiane, Rosa Maria, Fabi, Marianna, Filice, Emanuele, Lanari, Marcello, Lo Vecchio, Andrea, Mastrolia, Maria Vincenza, Mauro, Angela, Mazza, Angelo, Papa, Mario Virgilio, Romani, Lorenza, Scarano, Sara Maria, Simonini, Gabriele, Tipo, Vincenzo, Verdoni, Lucio, Macharia, Anne-Marie, Musiime, Grace, Reel, Bhupi, Wangai, Frederick, Pace, David, Torpiano, Paul, Anaya-Enriquez, Nancy, Carreon-Guerrero, Juan Manuel, Chacon-Cruz, Enrique, Cheung López, Mariana, Faugier Fuentes, Enrique, Fonseca Flores, Marisol, García-Domínguez, Miguel, Giron Vargas, Ana Luisa, Lopez-Delgado, Ivan, Lopez Hernández, Liliana, Menchaca Aguayo, Hector F., Montaño-Duron, Jesus Gilberto, Pérez-Gaxiola, Giordano, Ramos Tiñini, Pamela, Tostado-Morales, Edgardo, Valadez, Julio, Inchley, Christopher, Klevberg, Sjur, Knudsen, Per Kristian, Måseide, Per Helge, Carrera, Jose Manuel, Castaño, Elizabeth, Daza Timana, Carlos Alberto, De Leon, Tirza, Estripeaut, Dora, Levy, Jacqueline, Norero, Ximena, Record, Javier, Rojas-Bonilla, Magda, Wong, Mayra, Iramain, Ricardo, Hernandez, Roger, Huamán, Gian, Munaico, Manuel, Peralta, Carlos, Seminario, Diego, Zapata Yarlequé, Elmer Hans, Gadzinska, Justyna, Ludwikowska, Kamila, Mandziuk, Joanna, Okarska-Napierała, Magdalena, Alacheva, Zalina A., Alexeeva, Ekaterina, Ananin, Petr V., Antsupova, Margarita, Bakradze, Maya D., Berbenyuk, Anna, Bobkova, Polina, Borzakova, Svetlana, Chashchina, Irina L., El-Taravi, Yasmin, Fisenko, Andrey P., Gautier, Marina S., Glazyrina, Anastasia, Gorlenko, Cyrill, Grosheva, Mariia, Kiselev, Herman, Kondrikova, Elena, Korobyants, Evgeniya, Korsunskiy, Anatoliy A., Kovygina, Karina, Krasnaya, Ekaterina, Kurbanova, Seda, Kurdup, Maria K., Mamutova, Anna V., Mazankova, Lyudmila, Mitushin, Ilya L., Nargizyan, Anzhelika, Orlova, Yanina O., Osmanov, Ismail M., Polyakova, Anastasia S., Pushkareva, Anna, Romanova, Olga, Samitova, Elmira, Shvedova, Anastasia, Sologub, Anna, Iakovleva, Ekaterina, Tepaev, Rustem F., Tkacheva, Anna A., Yegiyan, Margarita, Yusupova, Valeriya, Zholobova, Elena, Grasa, Carlos Daniel, Epalza, Cristina, Lopez Segura, Nuria, Martinon-Torres, Federico, Melendo, Susana, Mendez-Echevarria, Ana, Mesa Guzmán, Juan Miguel, Palacios Argueta, Jorge Roberto, Rivero-Calle, Irene, Rivière, Jacques, Rodríguez-González, Moisés, Rojo, Pablo, Sanchez Manubens, Judith, Soler-Palacin, Pere, Soriano-Arandes, Antoni, Tagarro, Alfredo, Villaverde, Serena, Altman, Maria, Brodin, Petter, Horne, AnnaCarin, Palmblad, Karin, Brotschi, Barbara, Meyer Sauteur, Patrick, Pachlopnik Schmid, Jana, Prader, Seraina, Relly, Christa, Schlapbach, Luregn J., Seiler, Michelle, Strasser, Sophie, Trück, Johannes, Weber, Kathrin, Wütz, Daniela, Hamdan, Alaa, Melhem, Ibrahim, Moussa, Ahmed, Dunk, Joke, Ketharanathan, Naomi, Vermont, Clementien, Akyüz Özkan, Esra, Cetin, Benhur Sirvan, Erdeniz, Emine Hafize, Şahin, Irfan Oğuz, Borisova, Galina, Boyarchuk, Oksana, Boychenko, Lidiya, Boyko, Yaryna, Diudenko, Nadiia, Dyvonyak, Olha, Kasiyan, Olexandr, Katerynych, Kostiantyn, Kostyuchenko, Larysa, Mamenko, Marina, Melnyk, Kateryna, Miagka, Nelia, Nazarenko, Liliya, Nezgoda, Iryna, Rykova, Stanislava, Svyst, Olga, Teslenko, Maria, Trykosh, Mykola, Vasilenko, Nataliya, Volokha, Alla, Adams, Charlotte, Akomolafe, Toju, Al-Abadi, Eslam, Alders, Nele, Alifieraki, Styliani, Ansumanu, Hareef, Aston, Emily, Avram, Paula, Bamford, Alasdair, Banks, Millie, Basu Roy, Robin, Beattie, Thomas, Boleti, Olga, Bracken, Abbey, Broad, Jonathan, Cai, James, Carrol, Enitan D., Carter, Michael, Chandran, Anchit, Charlesworth, James, Chawla, Jaya, Cooper, Hannah, Cooray, Samantha, Davies, Patrick, Davis, Francesca, Drysdale, Simon B., Dzora, Ella, Emonts, Marieke, Evans, Ceri, Fidler, Katy, Foster, Caroline, Gong, Chen, Gongrun, Berin, Gonzalez, Carmen, Gorgun, Berin, Grandjean, Louis, Grant, Karlie, Guo, Jonathan, Hacohen, Yael, Hall, Jack, Hamid, Hytham K.S., Hassell, Jane, Hesketh, Christine, Hewlett, Jessica, Hnieno, Ahmad, Holt-Davis, Hannah, Hossain, Aleena, Hu, Shiying, Hudson, Lee D., Jheeta, Sharon, Johnson, Mae, Johnson, Sarah, Jyothish, Deepthi, Kampmann, Beate, Kavirayani, Akhila, Kelly, Deborah, Kirubakaran, Arangan, Kucera, Filip, Langer, Daniel, Lawson, George, Lees, Emily A, Lenihan, Rebecca, Lillie, Jon, Longbottom, Katherine, Lyall, Hermione, Mackdermott, Niamh, Maltby, Sarah, Mclelland, Thomas, McMahon, Anne-Marie, Miller, Danielle, Miranda, Mariana, Mirza, Luwaiza, Morrison, Zoe, Moshal, Karyn, Muller, Jennifer, Musuka, Phoebe, Myttaraki, Evangelia, Nadel, Simon, Nair, Sreedevi, Nuttall, Luke, Oremakinde, Oyinkansola, Osaghae, Daniella, Osman, Fatima, Ostrzewska, Anna, Paccagnella, Davide, Panthula, Mrinalini, Papachatzi, Eleni, Papadopoulou, Charalampia, Patel, Fahim, Payne, Helen, Penner, Justin, Polandi, Shervin, Prendergast, Andrew J., Ranasinghe, Lasith, Ravichandran, Muthukumaran, Rhys-Evans, Sophie, Riordan, Andrew, Rodrigues, Charlene M.C., Roe, Lauren, Romaine, Sam, Schobi, Nina, Seddon, James, Shingadia, Delane, Sikdar, Oishi, Srivastava, Anand, Struik, Siske, Sun, Thomas, Tan, Rachel Wei, Taylor, Alice, Taylor, Amanda, Taylor, Andrew, Tran, Steven, Tsagkaris, Stavros, Tudor-Williams, Gareth, van den Berg, Sarah, van der Velden, Fabian, Ventilacion, Lyn, Wellman, Paul A., Withers Green, Joseph, Yanney, Michael P., Yeung, Shunmay, Badheka, Aditya, Badran, Sarah, Bailey, Dwight M., Burch, Anna Kathryn, Burns, Jane C., Cichon, Catherine, Cirks, Blake, Dallman, Michael D., Delany, Dennis R., Fairchok, Mary, Friedman, Samantha, Geracht, Jennifer, Langs-Barlow, Allison, Mann, Kelly, Padhye, Amruta, Quade, Alexis, Ramirez, Kacy Alyne, Rockett, John, Sayed, Imran Ali, Santos, Roberto P., Shahin, Amr A., Umaru, Samuel, Widener, Rebecca, Mujuru, Hilda Angela, Kandawasvika, Gwendoline, and Best Available Treatment Study (BATS) consortium, on behalf of the

Subjects
Rheumatology, Immunology, Medicine and Health Sciences, Immunology and Allergy
Abstract

Background Multisystem inflammatory syndrome in children (MIS-C), a hyperinflammatory condition associated with SARS-CoV-2 infection, has emerged as a serious illness in children worldwide. Immunoglobulin or glucocorticoids, or both, are currently recommended treatments. Methods The Best Available Treatment Study evaluated immunomodulatory treatments for MIS-C in an international observational cohort. Analysis of the first 614 patients was previously reported. In this propensity-weighted cohort study, clinical and outcome data from children with suspected or proven MIS-C were collected onto a web-based Research Electronic Data Capture database. After excluding neonates and incomplete or duplicate records, inverse probability weighting was used to compare primary treatments with intravenous immunoglobulin, intravenous immunoglobulin plus glucocorticoids, or glucocorticoids alone, using intravenous immunoglobulin as the reference treatment. Primary outcomes were a composite of inotropic or ventilator support from the second day after treatment initiation, or death, and time to improvement on an ordinal clinical severity scale. Secondary outcomes included treatment escalation, clinical deterioration, fever, and coronary artery aneurysm occurrence and resolution. This study is registered with the ISRCTN registry, ISRCTN69546370. Findings We enrolled 2101 children (aged 0 months to 19 years) with clinically diagnosed MIS-C from 39 countries between June 14, 2020, and April 25, 2022, and, following exclusions, 2009 patients were included for analysis (median age 8·0 years [IQR 4·2–11·4], 1191 [59·3%] male and 818 [40·7%] female, and 825 [41·1%] White). 680 (33·8%) patients received primary treatment with intravenous immunoglobulin, 698 (34·7%) with intravenous immunoglobulin plus glucocorticoids, 487 (24·2%) with glucocorticoids alone; 59 (2·9%) patients received other combinations, including biologicals, and 85 (4·2%) patients received no immunomodulators. There were no significant differences between treatments for primary outcomes for the 1586 patients with complete baseline and outcome data that were considered for primary analysis. Adjusted odds ratios for ventilation, inotropic support, or death were 1·09 (95% CI 0·75–1·58; corrected p value=1·00) for intravenous immunoglobulin plus glucocorticoids and 0·93 (0·58–1·47; corrected p value=1·00) for glucocorticoids alone, versus intravenous immunoglobulin alone. Adjusted average hazard ratios for time to improvement were 1·04 (95% CI 0·91–1·20; corrected p value=1·00) for intravenous immunoglobulin plus glucocorticoids, and 0·84 (0·70–1·00; corrected p value=0·22) for glucocorticoids alone, versus intravenous immunoglobulin alone. Treatment escalation was less frequent for intravenous immunoglobulin plus glucocorticoids (OR 0·15 [95% CI 0·11–0·20]; p

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

Author

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

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

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

Published
2022
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27. The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet)

Author

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

Subjects
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

Published
2022

28. 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

29. 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

Author

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.

Published
2020

30. 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

31. Double-blind, placebo-controlled, randomized trial on low-dose azithromycin prophylaxis in patients with primary antibody deficiencies

Author

Alessandra Vultaggio, Maria Carrabba, Baldassarre Martire, Cinzia Milito, Francesco Cinetto, Federica Pulvirenti, Alessandro Plebani, Antonio Pecoraro, Isabella Quinti, Giovanna Fabio, Andrea Matucci, Vassilios Lougaris, Annarosa Soresina, Giuseppe Spadaro, Giuseppe Lassandro, Damiano Abeni, Stefano Tabolli, Carlo Agostini, Rosa Maria Dellepiane, Milito, Cinzia, Pulvirenti, Federica, Cinetto, Francesco, Lougaris, Vassilio, Soresina, Annarosa, Pecoraro, Antonio, Vultaggio, Alessandra, Carrabba, Maria Cristina, Lassandro, Giuseppe, Plebani, Alessandro, Spadaro, Giuseppe, Matucci, Andrea, Fabio, Giovanna, Dellepiane, Rosa Maria, Martire, Baldassarre, Agostini, Carlo, Abeni, Damiano, Tabolli, Stefano, and Quinti, Isabella

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, Haemophilus Infections, Exacerbation, Primary Immunodeficiency Diseases, Immunology, antibiotic prophylaxis, azithromycin, chronic obstructive pulmonary disease, Primary antibody defects, respiratory exacerbation, Placebo, Azithromycin, law.invention, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Randomized controlled trial, law, Internal medicine, antibiotic prophylaxi, Humans, Medicine, Immunology and Allergy, Antibiotic prophylaxis, Adverse effect, COPD, Primary antibody defect, Dose-Response Relationship, Drug, Respiratory tract infections, business.industry, Middle Aged, Pneumonia, Pneumococcal, medicine.disease, Haemophilus influenzae, Streptococcus pneumoniae, 030104 developmental biology, 030228 respiratory system, Female, business, medicine.drug
Abstract

Background Lacking protective antibodies, patients with primary antibody deficiencies (PADs) experience frequent respiratory tract infections, leading to chronic pulmonary damage. Macrolide prophylaxis has proved effective in patients with chronic respiratory diseases. Objective We aimed to test the efficacy and safety of orally administered low-dose azithromycin prophylaxis in patients with PADs. Methods We designed a 3-year, double-blind, placebo-controlled, randomized clinical trial to test whether oral azithromycin (250 mg administered once daily 3 times a week for 2 years) would reduce respiratory exacerbations in patients with PADs and chronic infection–related pulmonary diseases. The primary end point was the number of annual respiratory exacerbations. Secondary end points included time to first exacerbation, additional antibiotic courses, number of hospitalizations, and safety. Results Eighty-nine patients received azithromycin (n = 44) or placebo (n = 45). The number of exacerbations was 3.6 (95% CI, 2.5-4.7) per patient-year in the azithromycin arm and 5.2 (95% CI, 4.1-6.4) per patient-year in the placebo arm (P = .02). In the azithromycin group the hazard risk for having an acute exacerbation was 0.5 (95% CI, 0.3-0.9; P = .03), and the hazard risk for hospitalization was 0.5 (95% CI, 0.2-1.1; P = .04). The rate of additional antibiotic treatment per patient-year was 2.3 (95% CI, 2.1-3.4) in the intervention group and 3.6 (95% CI, 2.9-4.3) in the placebo group (P = .004). Haemophilus influenzae and Streptococcus pneumoniae were the prevalent isolates, and they were not susceptible to macrolides in 25% of patients of both arms. Azithromycin's safety profile was comparable with that of placebo. Conclusion The study reached the main outcome centered on the reduction of exacerbation episodes per patient-year, with a consequent reduction in additional courses of antibiotics and risk of hospitalization.

Published
2019

32. 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

33. Kawasaki disease: guidelines of the Italian Society of Pediatrics, part I - definition, epidemiology, etiopathogenesis, clinical expression and management of the acute phase

Author

Domenico Del Principe, Elisabetta Cortis, Gian Luigi Marseglia, Alberto Villani, Elisabetta Straface, Ugo Giordano, Maya El Hachem, Silvana Martino, Isabella Tarissi de Jacobis, Alessandro Rimini, Savina Mannarino, Aurelio Secinaro, Donato Rigante, Rosa Maria Dellepiane, Marzia Duse, Donatella Pietraforte, Rossella Massaro, Grazia Bossi, Alessandra Marchesi, Walter Malorni, Christian Pescosolido, Fabio Cardinale, Susanna Esposito, Patrizia Salice, Fabrizio De Benedetti, Giovanni Corsello, Giulia Marucci, Sabrina Buonuomo, Fernanda Falcini, Maria Cristina Maggio, Andrea Zorzi, Livio D’Isanto, Maria Cristina Pietrogrande, Marchesi, Alessandra, Tarissi De Jacobis, Isabella, Rigante, Donato, Rimini, Alessandro, Malorni, Walter, Corsello, Giovanni, Bossi, Grazia, Buonuomo, Sabrina, Cardinale, Fabio, Cortis, Elisabetta, De Benedetti, Fabrizio, De Zorzi, Andrea, Duse, Marzia, Del Principe, Domenico, Dellepiane, Rosa Maria, D'Isanto, Livio, El Hachem, Maya, Esposito, Susanna, Falcini, Fernanda, Giordano, Ugo, Maggio, Maria Cristina, Mannarino, Savina, Marseglia, Gianluigi, Martino, Silvana, Marucci, Giulia, Massaro, Rossella, Pescosolido, Christian, Pietraforte, Donatella, Pietrogrande, Maria Cristina, Salice, Patrizia, Secinaro, Aurelio, Straface, Elisabetta, and Villani, Alberto

Subjects
Male, Pediatrics, Review, Severity of Illness Index, 0302 clinical medicine, Retrospective Studie, Epidemiology, 030212 general & internal medicine, Disease management (health), Coronary artery abnormalitie, Children, Societies, Medical, Randomized Controlled Trials as Topic, Pediatric, lcsh:RJ1-570, Disease Management, Immunoglobulins, Intravenous, General Medicine, Prognosis, Settore MED/38, Treatment Outcome, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Italy, Meta-analysis, Acute Disease, Practice Guidelines as Topic, Disease Progression, Female, Coronary artery abnormalities, Aspirin, Intravenous immunoglobulin, Kawasaki disease, Human, medicine.medical_specialty, Prognosi, Mucocutaneous Lymph Node Syndrome, Risk Assessment, 03 medical and health sciences, 030225 pediatrics, Severity of illness, medicine, Humans, Risk factor, Retrospective Studies, aspirin, children, coronary artery abnormalities, intravenous immunoglobulin, pediatrics, perinatology and child health, business.industry, lcsh:Pediatrics, Retrospective cohort study, medicine.disease, Immunoglobulins, Intravenou, Pediatrics, Perinatology and Child Health, perinatology and child health, Differential diagnosis, business
Abstract

The primary purpose of these practical guidelines related to Kawasaki disease (KD) is to contribute to prompt diagnosis and appropriate treatment on the basis of different specialists’ contributions in the field. A set of 40 recommendations is provided, divided in two parts: the first describes the definition of KD, its epidemiology, etiopathogenetic hints, presentation, clinical course and general management, including treatment of the acute phase, through specific 23 recommendations. Their application is aimed at improving the rate of treatment with intravenous immunoglobulin and the overall potential development of coronary artery abnormalities in KD. Guidelines, however, should not be considered a norm that limits treatment options of pediatricians and practitioners, as treatment modalities other than those recommended may be required as a result of peculiar medical circumstances, patient’s condition, and disease severity or complications.

Published
2018

34. 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

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

35. Nutritional Status in Agammaglobulinemia: An Italian Multicenter Study

Author

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.

36. Development of a score for early identification of children with Kawasaki disease requiring second-line treatment in multi-ethnic populations in Europe: A multicentre retrospective cohort study.

Author

Ouldali N, Dellepiane RM, Torreggiani S, Mauri L, Beaujour G, Beyler C, Cucchetti M, Dumaine C, La Vecchia A, Melki I, Stracquadaino R, Vinit C, Cimaz R, and Meinzer U

Abstract

Background: Early identification of high-risk patients is essential to stratify treatment algorithms of Kawasaki disease (KD) and to appropriately select patients at risk for complicated disease who would benefit from intensified first-line treatment. Several scores have been developed and validated in Asian populations but have shown low sensitivity in predicting intravenous immunoglobulin (IVIG) resistance in non-Asian populations. We sought methods to predict the need for secondary treatment after initial IVIG in non-Asian populations., Methods: We conducted a retrospective, multicenter study including consecutive patients with KD admitted to two tertiary pediatric hospitals in France and Italy from 2005 to 2019. We evaluated the performance of the Kawanet-score and compared it with the performances of initial echocardiography findings, and of a newly proposed score combining the Kawanet-score and initial echocardiography findings. For each score, we assessed the AUC, sensitivity and specificity for predicting the need for second-line treatment., Findings: We included 363 children with KD, 186 from France and 177 from Italy, of whom 57 (16%) required second-line therapy after the first IVIG dose. The Kawanet score, coronary artery dilation or aneurysm with maximal Z-score ≥2.0 at baseline, and abnormal initial echocardiography had a sensitivity of 43%, 55% and 65% and a specificity of 73%, 78%, 73%, respectively, for predicting the need for second-line treatment. The Kawanet-score was significantly improved by combining it with initial echocardiography findings. The best predictive performance (Sensitivity 76%, Specificity 54%) was obtained by combining the Kawanet-score with abnormal initial echocardiography, defined by the presence of either coronary artery maximal Z-score ≥2.0, pericarditis, myocarditis and/or ventricular dysfunction. This score predicted the need for second-line treatment in European, African/Afro-Caribbean and Asian ethnicity with a sensitivity of 80%, 65% and 100%, respectively, and a specificity of 56%, 51% and 61%, respectively., Interpretation: Our study proposes a score that we named the Kawanet-echo score, which allows early identification of children with KD who require a second-line treatment in multi-ethnic populations in Europe., Funding: None., Competing Interests: All authors: None to declare., (© 2022 The Authors.)

Published
2022
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