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1. POS0773 STRATIFICATION OF PEDIATRIC SAPHO SYNDROME BASED ON SKIN MANIFESTATIONS: RESULTS FROM AN ITALIAN MULTICENTRIC STUDY (SAPHOPED)

Author

Matucci-Cerinic, C., primary, Attico, A., additional, Malattia, C., additional, Consolaro, A., additional, Rosina, S., additional, Breda, L., additional, La Bella, S., additional, Cattalini, M., additional, Ricci, F., additional, Conti, G., additional, Civino, A., additional, Licciardi, F., additional, Baldini, L., additional, Insalaco, A., additional, La Torre, F., additional, Pastore, S., additional, Filocamo, G., additional, Beretta, G. B., additional, Simonini, G., additional, Marrani, E., additional, Pistorio, A., additional, Volpi, S., additional, Caorsi, R., additional, Ruperto, N., additional, Viglizzo, G., additional, and Gattorno, M., additional

Published
2024
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2. POS0133 TRADITIONAL LABORATORY PARAMETERS AND NEW BIOMARKERS IN MACROPHAGE ACTIVATION SYNDROME (MAS) AND SECONDARY HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (sHLH)

Author

De Matteis, A., primary, Pires Marafon, D., additional, Caiello, I., additional, Pardeo, M., additional, Marucci, G., additional, Sacco, E., additional, Minoia, F., additional, Licciardi, F., additional, Minaici, A., additional, Maccora, I., additional, Maggio, M. C., additional, Prencipe, G., additional, De Benedetti, F., additional, and Bracaglia, C., additional

Published
2023
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3. Canakinumab in systemic juvenile idiopathic arthritis: real-world data from a retrospective Italian cohort

Author

De Matteis A, Bracaglia C, Pires Marafon D, Piscitelli AL, Alessio M, Naddei R, Orlando F, Filocamo G, Minoia F, Ravelli A, Tibaldi J, Cimaz R, Marino A, Simonini G, Mastrolia MV, La Torre F, Tricarico I, Licciardi F, Montin D, Maggio MC, Alizzi C, Martini G, Civino A, Gallizzi R, Olivieri AN, Ardenti Morini F, Conti G, De Benedetti F, Pardeo M., De Matteis, A, Bracaglia, C, Pires Marafon, D, Piscitelli, Al, Alessio, M, Naddei, R, Orlando, F, Filocamo, G, Minoia, F, Ravelli, A, Tibaldi, J, Cimaz, R, Marino, A, Simonini, G, Mastrolia, Mv, La Torre, F, Tricarico, I, Licciardi, F, Montin, D, Maggio, Mc, Alizzi, C, Martini, G, Civino, A, Gallizzi, R, Olivieri, An, Ardenti Morini, F, Conti, G, De Benedetti, F, and Pardeo, M.

Published
2022

4. Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19

Author

Carmona-Rivera, C, Zhang, Y, Dobbs, K, Markowitz, T, Dalgard, C, Oler, A, Claybaugh, D, Draper, D, Truong, M, Delmonte, O, Licciardi, F, Ramenghi, U, Crescenzio, N, Imberti, L, Sottini, A, Quaresima, V, Fiorini, C, Discepolo, V, Lo Vecchio, A, Guarino, A, Pierri, L, Catzola, A, Biondi, A, Bonfanti, P, Poli Harlowe, M, Espinosa, Y, Astudillo, C, Rey-Jurado, E, Vial, C, De la Cruz, J, Gonzalez, R, Pinera, C, Mays, J, Ng, A, Platt, A, Drolet, B, Moon, J, Cowen, E, Kenney, H, Weber, S, Castagnoli, R, Magliocco, M, Stack, M, Montealegre Sanchez, G, Barron, K, Fink, D, Kuhns, D, Hewitt, S, Arkin, L, Chertow, D, Su, H, Notarangelo, L, Kaplan, M, Carmona-Rivera, Carmelo, Zhang, Yu, Dobbs, Kerry, Markowitz, Tovah E, Dalgard, Clifton L, Oler, Andrew J, Claybaugh, Dillon R, Draper, Deborah, Truong, Meng, Delmonte, Ottavia M, Licciardi, Francesco, Ramenghi, Ugo, Crescenzio, Nicoletta, Imberti, Luisa, Sottini, Alessandra, Quaresima, Virginia, Fiorini, Chiara, Discepolo, Valentina, Lo Vecchio, Andrea, Guarino, Alfredo, Pierri, Luca, Catzola, Andrea, Biondi, Andrea, Bonfanti, Paolo, Poli Harlowe, Maria Cecilia, Espinosa, Yazmin, Astudillo, Camila A, Rey-Jurado, Emma, Vial, Cecilia, De la Cruz, Javiera, Gonzalez, Ricardo, Pinera, Cecilia, Mays, Jacqueline W, Ng, Ashley, Platt, Andrew, Drolet, Beth A, Moon, John, Cowen, Edward W, Kenney, Heather, Weber, Sarah E, Castagnoli, Riccardo, Magliocco, Mary K, Stack, Michael Austin, Montealegre Sanchez, Gina A, Barron, Karyl, Fink, Danielle L, Kuhns, Douglas B, Hewitt, Stephen M, Arkin, Lisa M, Chertow, Daniel S, Su, Helen C, Notarangelo, Luigi D, Kaplan, Mariana J, Carmona-Rivera, C, Zhang, Y, Dobbs, K, Markowitz, T, Dalgard, C, Oler, A, Claybaugh, D, Draper, D, Truong, M, Delmonte, O, Licciardi, F, Ramenghi, U, Crescenzio, N, Imberti, L, Sottini, A, Quaresima, V, Fiorini, C, Discepolo, V, Lo Vecchio, A, Guarino, A, Pierri, L, Catzola, A, Biondi, A, Bonfanti, P, Poli Harlowe, M, Espinosa, Y, Astudillo, C, Rey-Jurado, E, Vial, C, De la Cruz, J, Gonzalez, R, Pinera, C, Mays, J, Ng, A, Platt, A, Drolet, B, Moon, J, Cowen, E, Kenney, H, Weber, S, Castagnoli, R, Magliocco, M, Stack, M, Montealegre Sanchez, G, Barron, K, Fink, D, Kuhns, D, Hewitt, S, Arkin, L, Chertow, D, Su, H, Notarangelo, L, Kaplan, M, Carmona-Rivera, Carmelo, Zhang, Yu, Dobbs, Kerry, Markowitz, Tovah E, Dalgard, Clifton L, Oler, Andrew J, Claybaugh, Dillon R, Draper, Deborah, Truong, Meng, Delmonte, Ottavia M, Licciardi, Francesco, Ramenghi, Ugo, Crescenzio, Nicoletta, Imberti, Luisa, Sottini, Alessandra, Quaresima, Virginia, Fiorini, Chiara, Discepolo, Valentina, Lo Vecchio, Andrea, Guarino, Alfredo, Pierri, Luca, Catzola, Andrea, Biondi, Andrea, Bonfanti, Paolo, Poli Harlowe, Maria Cecilia, Espinosa, Yazmin, Astudillo, Camila A, Rey-Jurado, Emma, Vial, Cecilia, De la Cruz, Javiera, Gonzalez, Ricardo, Pinera, Cecilia, Mays, Jacqueline W, Ng, Ashley, Platt, Andrew, Drolet, Beth A, Moon, John, Cowen, Edward W, Kenney, Heather, Weber, Sarah E, Castagnoli, Riccardo, Magliocco, Mary K, Stack, Michael Austin, Montealegre Sanchez, Gina A, Barron, Karyl, Fink, Danielle L, Kuhns, Douglas B, Hewitt, Stephen M, Arkin, Lisa M, Chertow, Daniel S, Su, Helen C, Notarangelo, Luigi D, and Kaplan, Mariana J

Abstract

Dysregulation in neutrophil extracellular trap (NET) formation and degradation may play a role in the pathogenesis and severity of COVID-19; however, its role in the pediatric manifestations of this disease, including multisystem inflammatory syndrome in children (MIS-C) and chilblain-like lesions (CLLs), otherwise known as "COVID toes,"remains unclear. Studying multinational cohorts, we found that, in CLLs, NETs were significantly increased in serum and skin. There was geographic variability in the prevalence of increased NETs in MIS-C, in association with disease severity. MIS-C and CLL serum samples displayed decreased NET degradation ability, in association with C1q and G-actin or anti-NET antibodies, respectively, but not with genetic variants of DNases. In adult COVID-19, persistent elevations in NETs after disease diagnosis were detected but did not occur in asymptomatic infection. COVID-19-affected adults displayed significant prevalence of impaired NET degradation, in association with anti-DNase1L3, G-actin, and specific disease manifestations, but not with genetic variants of DNases. NETs were detected in many organs of adult patients who died from COVID-19 complications. Infection with the Omicron variant was associated with decreased NET levels when compared with other SARS-CoV-2 strains. These data support a role for NETs in the pathogenesis and severity of COVID-19 in pediatric and adult patients.

Published
2022

5. Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19

Author

Sacco, K, Castagnoli, R, Vakkilainen, S, Liu, C, Delmonte, O, Oguz, C, Kaplan, I, Alehashemi, S, Burbelo, P, Bhuyan, F, de Jesus, A, Dobbs, K, Rosen, L, Cheng, A, Shaw, E, Vakkilainen, M, Pala, F, Lack, J, Zhang, Y, Fink, D, Oikonomou, V, Snow, A, Dalgard, C, Chen, J, Sellers, B, Montealegre Sanchez, G, Barron, K, Rey-Jurado, E, Vial, C, Poli, M, Licari, A, Montagna, D, Marseglia, G, Licciardi, F, Ramenghi, U, Discepolo, V, Lo Vecchio, A, Guarino, A, Eisenstein, E, Imberti, L, Sottini, A, Biondi, A, Mató, S, Gerstbacher, D, Truong, M, Stack, M, Magliocco, M, Bosticardo, M, Kawai, T, Danielson, J, Hulett, T, Askenazi, M, Hu, S, Cohen, J, Su, H, Kuhns, D, Lionakis, M, Snyder, T, Holland, S, Goldbach-Mansky, R, Tsang, J, Notarangelo, L, Sacco, Keith, Castagnoli, Riccardo, Vakkilainen, Svetlana, Liu, Can, Delmonte, Ottavia M, Oguz, Cihan, Kaplan, Ian M, Alehashemi, Sara, Burbelo, Peter D, Bhuyan, Farzana, de Jesus, Adriana A, Dobbs, Kerry, Rosen, Lindsey B, Cheng, Aristine, Shaw, Elana, Vakkilainen, Mikko S, Pala, Francesca, Lack, Justin, Zhang, Yu, Fink, Danielle L, Oikonomou, Vasileios, Snow, Andrew L, Dalgard, Clifton L, Chen, Jinguo, Sellers, Brian A, Montealegre Sanchez, Gina A, Barron, Karyl, Rey-Jurado, Emma, Vial, Cecilia, Poli, Maria Cecilia, Licari, Amelia, Montagna, Daniela, Marseglia, Gian Luigi, Licciardi, Francesco, Ramenghi, Ugo, Discepolo, Valentina, Lo Vecchio, Andrea, Guarino, Alfredo, Eisenstein, Eli M, Imberti, Luisa, Sottini, Alessandra, Biondi, Andrea, Mató, Sayonara, Gerstbacher, Dana, Truong, Meng, Stack, Michael A, Magliocco, Mary, Bosticardo, Marita, Kawai, Tomoki, Danielson, Jeffrey J, Hulett, Tyler, Askenazi, Manor, Hu, Shaohui, Cohen, Jeffrey I, Su, Helen C, Kuhns, Douglas B, Lionakis, Michail S, Snyder, Thomas M, Holland, Steven M, Goldbach-Mansky, Raphaela, Tsang, John S, Notarangelo, Luigi D, Sacco, K, Castagnoli, R, Vakkilainen, S, Liu, C, Delmonte, O, Oguz, C, Kaplan, I, Alehashemi, S, Burbelo, P, Bhuyan, F, de Jesus, A, Dobbs, K, Rosen, L, Cheng, A, Shaw, E, Vakkilainen, M, Pala, F, Lack, J, Zhang, Y, Fink, D, Oikonomou, V, Snow, A, Dalgard, C, Chen, J, Sellers, B, Montealegre Sanchez, G, Barron, K, Rey-Jurado, E, Vial, C, Poli, M, Licari, A, Montagna, D, Marseglia, G, Licciardi, F, Ramenghi, U, Discepolo, V, Lo Vecchio, A, Guarino, A, Eisenstein, E, Imberti, L, Sottini, A, Biondi, A, Mató, S, Gerstbacher, D, Truong, M, Stack, M, Magliocco, M, Bosticardo, M, Kawai, T, Danielson, J, Hulett, T, Askenazi, M, Hu, S, Cohen, J, Su, H, Kuhns, D, Lionakis, M, Snyder, T, Holland, S, Goldbach-Mansky, R, Tsang, J, Notarangelo, L, Sacco, Keith, Castagnoli, Riccardo, Vakkilainen, Svetlana, Liu, Can, Delmonte, Ottavia M, Oguz, Cihan, Kaplan, Ian M, Alehashemi, Sara, Burbelo, Peter D, Bhuyan, Farzana, de Jesus, Adriana A, Dobbs, Kerry, Rosen, Lindsey B, Cheng, Aristine, Shaw, Elana, Vakkilainen, Mikko S, Pala, Francesca, Lack, Justin, Zhang, Yu, Fink, Danielle L, Oikonomou, Vasileios, Snow, Andrew L, Dalgard, Clifton L, Chen, Jinguo, Sellers, Brian A, Montealegre Sanchez, Gina A, Barron, Karyl, Rey-Jurado, Emma, Vial, Cecilia, Poli, Maria Cecilia, Licari, Amelia, Montagna, Daniela, Marseglia, Gian Luigi, Licciardi, Francesco, Ramenghi, Ugo, Discepolo, Valentina, Lo Vecchio, Andrea, Guarino, Alfredo, Eisenstein, Eli M, Imberti, Luisa, Sottini, Alessandra, Biondi, Andrea, Mató, Sayonara, Gerstbacher, Dana, Truong, Meng, Stack, Michael A, Magliocco, Mary, Bosticardo, Marita, Kawai, Tomoki, Danielson, Jeffrey J, Hulett, Tyler, Askenazi, Manor, Hu, Shaohui, Cohen, Jeffrey I, Su, Helen C, Kuhns, Douglas B, Lionakis, Michail S, Snyder, Thomas M, Holland, Steven M, Goldbach-Mansky, Raphaela, Tsang, John S, and Notarangelo, Luigi D

Abstract

Transcriptomic, proteomic and immune repertoire profiling reveals distinct peripheral features of MIS-C and pediatric COVID-19, including elevated soluble spike protein levels, more pronounced type II IFN-dependent gene expression and a higher B cell mutation rate in patients with MIS-C.Pediatric Coronavirus Disease 2019 (pCOVID-19) is rarely severe; however, a minority of children infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) might develop multisystem inflammatory syndrome in children (MIS-C), with substantial morbidity. In this longitudinal multi-institutional study, we applied multi-omics (analysis of soluble biomarkers, proteomics, single-cell gene expression and immune repertoire analysis) to profile children with COVID-19 (n = 110) and MIS-C (n = 76), along with pediatric healthy controls (pHCs; n = 76). pCOVID-19 was characterized by robust type I interferon (IFN) responses, whereas prominent type II IFN-dependent and NF-kappa B-dependent signatures, matrisome activation and increased levels of circulating spike protein were detected in MIS-C, with no correlation with SARS-CoV-2 PCR status around the time of admission. Transient expansion of TRBV11-2 T cell clonotypes in MIS-C was associated with signatures of inflammation and T cell activation. The association of MIS-C with the combination of HLA A*02, B*35 and C*04 alleles suggests genetic susceptibility. MIS-C B cells showed higher mutation load than pCOVID-19 and pHC. These results identify distinct immunopathological signatures in pCOVID-19 and MIS-C that might help better define the pathophysiology of these disorders and guide therapy.

Published
2022

7. 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, Adamoli, P, Alberelli, Mc, Alizzi, C, Barone, P, Bennato, V, Biscaro, F, Bossi, G, Campana, A, Carone, M, Civino, A, Conti, Giorgio, Dei Rossi, E, Del Giudice, E, Dell'Anna, A, De Luca, M, Felici, E, Filocamo, G, Floretta, I, Foschini, Ml, Lanari, M, Lattanzi, B, Lazzerotti, A, Licciardi, F, Manerba, A, Mannarino, S, Marino, A, Marolda, A, Martelli, L, Martini, G, Mauro, A, Mastrolia, Mv, Mazza, A, Miniaci, A, Minoia, F, Olivieri, A, Pennoni, G, Pignataro, R, Ricci, F, Rigante, Donato, Rossi, M, Santagati, C, Soliani, M, Sonego, S, Sperlì, D, Stucchi, S, Teruzzi, B, Tierno, E, Utytatnikova, T, Valentini, Piero, Vergine, G, Conti G (ORCID:0000-0002-8566-9365), Rigante D (ORCID:0000-0001-7032-7779), Valentini P (ORCID:0000-0001-6095-9510), 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, Adamoli, P, Alberelli, Mc, Alizzi, C, Barone, P, Bennato, V, Biscaro, F, Bossi, G, Campana, A, Carone, M, Civino, A, Conti, Giorgio, Dei Rossi, E, Del Giudice, E, Dell'Anna, A, De Luca, M, Felici, E, Filocamo, G, Floretta, I, Foschini, Ml, Lanari, M, Lattanzi, B, Lazzerotti, A, Licciardi, F, Manerba, A, Mannarino, S, Marino, A, Marolda, A, Martelli, L, Martini, G, Mauro, A, Mastrolia, Mv, Mazza, A, Miniaci, A, Minoia, F, Olivieri, A, Pennoni, G, Pignataro, R, Ricci, F, Rigante, Donato, Rossi, M, Santagati, C, Soliani, M, Sonego, S, Sperlì, D, Stucchi, S, Teruzzi, B, Tierno, E, Utytatnikova, T, Valentini, Piero, Vergine, G, Conti G (ORCID:0000-0002-8566-9365), Rigante D (ORCID:0000-0001-7032-7779), and Valentini P (ORCID:0000-0001-6095-9510)

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 SARSCoV-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 freque

Published
2021

9. Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2

Author

Boogaard, M.L. van den, Thijssen, P.E., Aytekin, C., Licciardi, F., Kiykim, A.A., Spossito, L., Weemaes, C.M.R., and Maarel, S.M. van der

Subjects
All institutes and research themes of the Radboud University Medical Center, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]
Abstract

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Published
2017
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10. Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies. Front Immunol. 2019 Apr 11;10:316. doi: 10.3389/fimmu.2019.00316. eCollection 2019. Erratum in: Front Immunol. 2019 May 31;10:1184

Author

Cifaldi, C, Brigida, I, Barzaghi, F, Zoccolillo, M, Ferradini, V, Petricone, D, Cicalese, Mp, Lazarevic, D, Cittaro, D, Omrani, M, Attardi, E, Conti, F, Scarselli, A, Chiriaco, M, Cesare, Sd, Licciardi, F, Davide, M, Ferrua, F, Canessa, C, Pignata, C, Giliani, S, Ferrari, S, Fousteri, G, Barera, G, Merli, P, Palma, P, Cesaro, S, Gattorno, M, Trizzino, A, Moschese, V, Chini, L, Villa, A, Azzari, C, Finocchi, A, Locatelli, F, Rossi, P, Sangiuolo, F, Aiuti, A, Cancrini, C, and Di Matteo, G

Subjects
Settore MED/38 - Pediatria Generale e Specialistica, gene panels, Next Generation Sequencing, Haloplex, Ion Torrent, primary immunodeficiencies
Published
2019

11. Corrigendum : Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies (Frontiers in Immunology (2019) 10 (316) DOI: 10.3389/fimmu.2019.00316)

Author

Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Cesare, S. D., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C., Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, Franco, Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C., and Di Matteo, G.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, gene panels, Next Generation Sequencing, Haloplex, Ion Torrent, Settore MED/38, primary immunodeficiencies
Published
2019

13. Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies

Author

Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Di Cesare, S., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C., Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, Franco, Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C., Di Matteo, G., Locatelli F. (ORCID:0000-0002-7976-3654), Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Di Cesare, S., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C., Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, Franco, Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C., Di Matteo, G., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic immune disorders. While some PIDs can manifest with more than one phenotype, signs, and symptoms of various PIDs overlap considerably. Recently, novel defects in immune-related genes and additional variants in previously reported genes responsible for PIDs have been successfully identified by Next Generation Sequencing (NGS), allowing the recognition of a broad spectrum of disorders. Objective: To evaluate the strength and weakness of targeted NGS sequencing using custom-made Ion Torrent and Haloplex (Agilent) panels for diagnostics and research purposes. Methods: Five different panels including known and candidate genes were used to screen 105 patients with distinct PID features divided in three main PID categories: T cell defects, Humoral defects and Other PIDs. The Ion Torrent sequencing platform was used in 73 patients. Among these, 18 selected patients without a molecular diagnosis and 32 additional patients were analyzed by Haloplex enrichment technology. Results: The complementary use of the two custom-made targeted sequencing approaches allowed the identification of causative variants in 28.6% (n = 30) of patients. Twenty-two out of 73 (34.6%) patients were diagnosed by Ion Torrent. In this group 20 were included in the SCID/CID category. Eight out of 50 (16%) patients were diagnosed by Haloplex workflow. Ion Torrent method was highly successful for those cases with well-defined phenotypes for immunological and clinical presentation. The Haloplex approach was able to diagnose 4 SCID/CID patients and 4 additional patients with complex and extended phenotypes, embracing all three PID categories in which this approach was more efficient. Both technologies showed good gene coverage. Conclusions: NGS technology represents a powerful approach in the complex field of rare disorders but its different application should be weighted. A relatively small NGS target panel can be successful

Published
2019

15. Correction to: The Italian version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR) (Rheumatology International, (2018), 38, S1, (251-258), 10.1007/s00296-018-3960-1)

Author

Consolaro, A., Bovis, F., Pistorio, A., Cimaz, R., De Benedetti, F., Miniaci, A., Corona, F., Gerloni, V., Martino, S., Pastore, S., Barone, P., Pieropan, S., Cortis, E., Podda, R. A., Gallizzi, R., Civino, A., La Torre, F., Rigante, Donato, Consolini, R., Maggio, M. C., Magni-Manzoni, S., Perfetti, F., Filocamo, G., Toppino, C., Licciardi, F., Garrone, M., Scala, S., Patrone, E., Tonelli, M., Tani, D., Ravelli, A., Martini, A., and Ruperto, N.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Juvenile idiopathic arthritis
Published
2018

19. The Italian version of the juvenile arthritis multidimensional assessment report (JAMAR)

Author

Consolaro, A, Bovis, F, Pistorio, A, Cimaz, R, De Benedetti, F, Miniaci, A, Corona, F, Gerloni, F, Martino, S, Pastore, S, Barone, P, Pieropan, S, Cortis, E, Podda, Ra, Gallizzi, R, Civino, A, La Torre, F, Rigante, Donato, Consolini, R, Maggio, Mc, Magni-Manzoni, S, Perfetti, F, Toppino, C, Licciardi, F, Garrone, M, Scala, S, Patrone, E, Tonelli, M, Tani, D, Ravelli, A, Martini, A, Ruperto, N, Rigante D (ORCID:0000-0001-7032-7779), Consolaro, A, Bovis, F, Pistorio, A, Cimaz, R, De Benedetti, F, Miniaci, A, Corona, F, Gerloni, F, Martino, S, Pastore, S, Barone, P, Pieropan, S, Cortis, E, Podda, Ra, Gallizzi, R, Civino, A, La Torre, F, Rigante, Donato, Consolini, R, Maggio, Mc, Magni-Manzoni, S, Perfetti, F, Toppino, C, Licciardi, F, Garrone, M, Scala, S, Patrone, E, Tonelli, M, Tani, D, Ravelli, A, Martini, A, Ruperto, N, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Italian language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the 3 Likert assumptions, floor/ceiling effects, internal consistency, Cronbach’s alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 1296 JIA patients (7.2% systemic, 59.5% oligoarticular, 21.4% RF negative polyarthritis, 11.9% other categories) and 100 healthy children, were enrolled in 18 centres. The JAMAR components discriminated well healthy subjects from JIA patients except for the Paediatric Rheumatology Quality of Life (PRQL) Psychosocial Health (PsH) subscales. All JAMAR components revealed good psychometric performances. In conclusion, the Italian version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.

Published
2018

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