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3. Contributors

Author

Abu-Shakra, Mahmoud, primary, Adiguzel, Yekbun, additional, Al Shawaf, Maisam, additional, Alghory, Amal, additional, Almeida, Isabel, additional, Alrais, Mahmoud, additional, Alrifaai, Mohamad Aosama, additional, Alwani, Abdulkarim, additional, Alwani, Abdulrahman, additional, Amital, Howard, additional, Anna, Dubaniewicz, additional, Arleevskaya, Marina, additional, Ashkenazi, Shai, additional, Athanassiou, Lambros, additional, Athanassiou, Panagiotis, additional, Atik, Houda, additional, Atzeni, Fabiola, additional, Balbir-Gurman, Alexandra, additional, Balcioglu, Zeynep Betul, additional, Baldini, Chiara, additional, Barbour, Mohammad, additional, Bashi, Tomer, additional, Belyaeva, Irina V., additional, Ben-Ami, Dana, additional, Blank, Miri, additional, Boccassini, Laura, additional, Bogdanos, Dimitrios P., additional, Bombardieri, Stefano, additional, Bost, Chloé, additional, Brandão, Mariana, additional, Braun-Moscovici, Yolanda, additional, Brooks, Wesley H., additional, Campar, A., additional, Carvalheiras, Graziela, additional, Cervera, R., additional, Churilov, Leonid P., additional, Cohen, Eytan, additional, Correia, J., additional, Darkhabani, Mohammad, additional, David, Paula, additional, de Carvalho, Jozélio Freire, additional, Deniz, Omer Faruk, additional, Detrick, Barbara, additional, Deutsch, Melanie, additional, Di Battista, Marco, additional, Dogan, Emir, additional, Dogru, Omer Faruk, additional, Domingues, Vital Da Silva, additional, Dotan, Arad, additional, Dow, Coad Thomas, additional, Durai, Malarvizhi, additional, Elefante, Elena, additional, Elsalti, Abdulrahman, additional, Erman, Mikhail V., additional, Esirgun, Sevval Nil, additional, Ferrão, C., additional, Ferreira, Álvaro, additional, Ferro, Francesco, additional, Fonseca, Tomás, additional, Garg, Ravindra Kumar, additional, Guilherme, Luiza, additional, Habra, Mona, additional, Halpert, Gilad, additional, Hammerstad, Sara Salehi, additional, Hooks, John J., additional, Ilchovska, Daisy, additional, Invernizzi, Pietro, additional, Israeli, E., additional, Janket, Sok-Ja, additional, Kalil, Jorge, additional, Karaoglan, Birnur Sinem, additional, Kiyak, Zeynep, additional, Kol, Mustafa Yusuf, additional, Kostoglou-Athanassiou, Ifigenia, additional, Krause, Ilan, additional, Kudryavtsev, Igor V., additional, Kumar, Neeraj, additional, Lavine, Noy, additional, Lerman, Tsahi T., additional, Levi, Assi, additional, Ling, Eduard, additional, Moutsopoulos, Haralampos M., additional, Mahajna, Hussein, additional, Mahroum, Naim, additional, Malhotra, Hardeep Singh, additional, Malkova, Аnna M., additional, Maoz-Segal, Ramit, additional, Marinho, António, additional, Mavragani, Clio P., additional, Meurman, Jukka H., additional, Milhes, Jean, additional, Mimouni, Daniel, additional, Morais, Cátia Iracema, additional, Moudgil, Kamal D., additional, Muniz Caldas, Cezar Augusto, additional, Neves, Esmeralda, additional, Neyestani, Kamyar, additional, Nikolaev, Alexei V., additional, Noversa de Sousa, Rita, additional, Ohayon, Aviran, additional, Palumbo, Antonino, additional, Pasoto, Sandra Gofinet, additional, Petríková, Jana, additional, Puxeddu, Ilaria, additional, Raftopoulou, Sylvia, additional, Renaudineau, Yves, additional, Ribeiro, Francinne Machado, additional, Rigopoulou, Eirini I., additional, Rosário, Cristina, additional, Rossa, Alessandra Della, additional, Sahin, Meyha, additional, Sarzi-Puttini, Piercarlo, additional, Seguro, Luciana Parente Costa, additional, Seida, Isa, additional, Seida, Ravend, additional, Serpa Pinto, L., additional, Sharon, Eran, additional, Shoenfeld, Yehuda, additional, Smyk, Daniel S., additional, Sousa, Rita Catarina Medeiros, additional, Starshinova, Anna A., additional, Tamimi, Faleh, additional, Tocut, Milena, additional, Tomer, Yaron, additional, Tunitsky-Lifshitz, Yulia, additional, Vasconcelos, Carlos, additional, Vasconcelos, Júlia, additional, Vassilopoulos, Dimitrios, additional, Venkatesha, Shivaprasad H., additional, Villanueva, Ronald, additional, Vita, Pedro, additional, Yablonskiy, Piotr K., additional, Yilmaz, Mesut, additional, Zamorano, Bryan, additional, Zandman-Goddard, Gisele, additional, Zinchenko, Yulia S., additional, and Zoubi, Magdi, additional

Published
2024
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4. Lymphocytes and Infection in Autoimmune Diseases

Author

Carvalheiras, Graziela, primary, Brandão, Mariana, additional, Domingues, Vital Da Silva, additional, Neves, Esmeralda, additional, Vasconcelos, Júlia, additional, Morais, Cátia Iracema, additional, Almeida, Isabel, additional, and Vasconcelos, Carlos, additional

Published
2024
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5. Prognostic factors associated with disability in a cohort of neuromyelitis optica spectrum disorder and MOG-associated disease from a nationwide Portuguese registry

Author

Moura, João, Samões, Raquel, Sousa, Ana Paula, Figueiroa, Sónia, Mendonça, Teresa, Abreu, Pedro, Guimarães, Joana, Melo, Claúdia, Sousa, Raquel, Soares, Mafalda, Correia, Ana Sofia, Marques, Inês Brás, Perdigão, Sandra, Alves, Ivânia, Felgueiras, Helena, Nzwalo, Hipólito, Mendes, Irene, Almeida, Vânia, Boleixa, Daniela, Carneiro, Paula, Neves, Esmeralda, Silva, Ana Martins, Sá, Maria José, and Santos, Ernestina

Published
2024
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6. Interferon and B-cell Signatures Inform Precision Medicine in Lupus Nephritis

Author

Beretta, Lorenzo, Vigone, Barbara, Pers, Jacques-Olivier, Saraux, Alain, Devauchelle-Pensec, Valérie, Cornec, Divi, Jousse-Joulin, Sandrine, Lauwerys, Bernard, Ducreux, Julie, Maudoux, Anne-Lise, Vasconcelos, Carlos, Tavares, Ana, Neves, Esmeralda, Faria, Raquel, Brandão, Mariana, Campar, Ana, Marinho, António, Farinha, Fátima, Almeida, Isabel, Gonzalez-Gay Mantecón, Miguel Angel, Alonso, Ricardo Blanco, Martínez, Alfonso Corrales, Cervera, Ricard, Rodríguez-Pintó, Ignasi, Espinosa, Gerard, Lories, Rik, De Langhe, Ellen, Hunzelmann, Nicolas, Belz, Doreen, Witte, Torsten, Baerlecken, Niklas, Stummvoll, Georg, Zauner, Michael, Lehner, Michaela, Collantes, Eduardo, Ortega-Castro, Rafaela, Aguirre-Zamorano, Ma Angeles, Escudero-Contreras, Alejandro, Castro-Villegas, Ma Carmen, Ortego, Norberto, Fernández Roldán, María Concepción, Raya, Enrique, Moleón, Inmaculada Jiménez, de Ramon, Enrique, Quintero, Isabel Díaz, Meroni, Pier Luigi, Gerosa, Maria, Schioppo, Tommaso, Artusi, Carolina, Chizzolini, Carlo, Zuber, Aleksandra, Wynar, Donatienne, Kovács, Laszló, Balog, Attila, Deák, Magdolna, Bocskai, Márta, Dulic, Sonja, Kádár, Gabriella, Hiepe, Falk, Gerl, Velia, Thiel, Silvia, Maresca, Manuel Rodriguez, López-Berrio, Antonio, Aguilar-Quesada, Rocío, Navarro-Linares, Héctor, Parodis, Ioannis, Lindblom, Julius, Toro-Domínguez, Daniel, Borghi, Maria O., Castillo, Jessica, Carnero-Montoro, Elena, Enman, Yvonne, Mohan, Chandra, Alarcón-Riquelme, Marta E., Barturen, Guillermo, and Nikolopoulos, Dionysis

Published
2024
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12. A Genome‐Wide Association Study Suggests New Susceptibility Loci for Primary Antiphospholipid Syndrome.

Author

Casares‐Marfil, Desiré, Martínez‐Bueno, Manuel, Borghi, Maria Orietta, Pons‐Estel, Guillermo, Beretta, Lorenzo, Vigone, Barbara, Pers, Jacques‐Olivier, Saraux, Alain, Devauchelle‐Pensec, Valérie, Cornec, Divi, Jousse‐Joulin, Sandrine, Lauwerys, Bernard, Ducreux, Julie, Maudoux, Anne‐Lise, Vasconcelos, Carlos, Tavares, Ana, Neves, Esmeralda, Faria, Raquel, Brandão, Mariana, and Campar, Ana

Subjects
NEUROMYELITIS optica, GENOME-wide association studies, GENOMICS, RESEARCH funding, META-analysis, CELLULAR signal transduction, DESCRIPTIVE statistics, CHI-squared test, LONGITUDINAL method, ODDS ratio, GENE expression profiling, SYSTEMIC scleroderma, DISEASE susceptibility, PREGNANCY complications, SJOGREN'S syndrome, CONFIDENCE intervals, ANTIPHOSPHOLIPID syndrome, ALLELES, HLA-B27 antigen
Abstract

Objective: Primary antiphospholipid syndrome (PAPS) is a rare autoimmune disease characterized by the presence of antiphospholipid antibodies and the occurrence of thrombotic events and pregnancy complications. Our study aimed to identify novel genetic susceptibility loci associated with PAPS. Methods: We performed a genome‐wide association study comprising 5,485 individuals (482 affected individuals) of European ancestry. Significant and suggestive independent variants from a meta‐analysis of approximately 7 million variants were evaluated for functional and biological process enrichment. The genetic risk variability for PAPS in different populations was also assessed. Hierarchical clustering, Mahalanobis distance, and Dirichlet Process Mixtures with uncertainty clustering methods were used to assess genetic similarities between PAPS and other immune‐mediated diseases. Results: We revealed genetic associations with PAPS in a regulatory locus within the HLA class II region near HLA‐DRA and in STAT1‐STAT4 with a genome‐wide level of significance; 34 additional suggestive genetic susceptibility loci for PAPS were also identified. The disease risk allele near HLA‐DRA is associated with overexpression of HLA‐DRB6, HLA‐DRB9, HLA‐DQA2, and HLA‐DQB2 in immune cells, vascular tissue, and nervous tissue. This association is independent of the association between PAPS and HLA‐DRB1*1302. Functional analyses highlighted immune‐related pathways in PAPS‐associated loci. The comparison with other immune‐mediated diseases revealed a close genetic relatedness to neuromyelitis optica, systemic sclerosis, and Sjögren syndrome, suggesting co‐localized causal variations close to STAT1‐STAT4, TNPO3, and BLK. Conclusion: This study represents a comprehensive large‐scale genetic analysis for PAPS and provides new insights into the genetic basis and pathophysiology of this rare disease. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Helper T cell immunity in humans with inherited CD4 deficiency

Author

Guérin, Antoine, primary, Moncada-Vélez, Marcela, additional, Jackson, Katherine, additional, Ogishi, Masato, additional, Rosain, Jérémie, additional, Mancini, Mathieu, additional, Langlais, David, additional, Nunez, Andrea, additional, Webster, Samantha, additional, Goyette, Jesse, additional, Khan, Taushif, additional, Marr, Nico, additional, Avery, Danielle T., additional, Rao, Geetha, additional, Waterboer, Tim, additional, Michels, Birgitta, additional, Neves, Esmeralda, additional, Iracema Morais, Cátia, additional, London, Jonathan, additional, Mestrallet, Stéphanie, additional, Quartier dit Maire, Pierre, additional, Neven, Bénédicte, additional, Rapaport, Franck, additional, Seeleuthner, Yoann, additional, Lev, Atar, additional, Simon, Amos J., additional, Montoya, Jorge, additional, Barel, Ortal, additional, Gómez-Rodríguez, Julio, additional, Orrego, Julio C., additional, L’Honneur, Anne-Sophie, additional, Soudée, Camille, additional, Rojas, Jessica, additional, Velez, Alejandra C., additional, Sereti, Irini, additional, Terrier, Benjamin, additional, Marin, Nancy, additional, García, Luis F., additional, Abel, Laurent, additional, Boisson-Dupuis, Stéphanie, additional, Reis, Joel, additional, Marinho, Antonio, additional, Lisco, Andrea, additional, Faria, Emilia, additional, Goodnow, Christopher C., additional, Vasconcelos, Julia, additional, Béziat, Vivien, additional, Ma, Cindy S., additional, Somech, Raz, additional, Casanova, Jean-Laurent, additional, Bustamante, Jacinta, additional, Franco, Jose Luis, additional, and Tangye, Stuart G., additional

Published
2024
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14. Interferon and B-cell Signatures Inform Precision Medicine in Lupus Nephritis

Author

Parodis, Ioannis, primary, Lindblom, Julius, additional, Toro-Domínguez, Daniel, additional, Beretta, Lorenzo, additional, Borghi, Maria O., additional, Castillo, Jessica, additional, Carnero-Montoro, Elena, additional, Enman, Yvonne, additional, Mohan, Chandra, additional, Alarcón-Riquelme, Marta E., additional, Barturen, Guillermo, additional, Nikolopoulos, Dionysis, additional, Vigone, Barbara, additional, Pers, Jacques-Olivier, additional, Saraux, Alain, additional, Devauchelle-Pensec, Valérie, additional, Cornec, Divi, additional, Jousse-Joulin, Sandrine, additional, Lauwerys, Bernard, additional, Ducreux, Julie, additional, Maudoux, Anne-Lise, additional, Vasconcelos, Carlos, additional, Tavares, Ana, additional, Neves, Esmeralda, additional, Faria, Raquel, additional, Brandão, Mariana, additional, Campar, Ana, additional, Marinho, António, additional, Farinha, Fátima, additional, Almeida, Isabel, additional, Gonzalez-Gay Mantecón, Miguel Angel, additional, Alonso, Ricardo Blanco, additional, Martínez, Alfonso Corrales, additional, Cervera, Ricard, additional, Rodríguez-Pintó, Ignasi, additional, Espinosa, Gerard, additional, Lories, Rik, additional, De Langhe, Ellen, additional, Hunzelmann, Nicolas, additional, Belz, Doreen, additional, Witte, Torsten, additional, Baerlecken, Niklas, additional, Stummvoll, Georg, additional, Zauner, Michael, additional, Lehner, Michaela, additional, Collantes, Eduardo, additional, Ortega-Castro, Rafaela, additional, Aguirre-Zamorano, Ma Angeles, additional, Escudero-Contreras, Alejandro, additional, Castro-Villegas, Ma Carmen, additional, Ortego, Norberto, additional, Fernández Roldán, María Concepción, additional, Raya, Enrique, additional, Moleón, Inmaculada Jiménez, additional, de Ramon, Enrique, additional, Quintero, Isabel Díaz, additional, Meroni, Pier Luigi, additional, Gerosa, Maria, additional, Schioppo, Tommaso, additional, Artusi, Carolina, additional, Chizzolini, Carlo, additional, Zuber, Aleksandra, additional, Wynar, Donatienne, additional, Kovács, Laszló, additional, Balog, Attila, additional, Deák, Magdolna, additional, Bocskai, Márta, additional, Dulic, Sonja, additional, Kádár, Gabriella, additional, Hiepe, Falk, additional, Gerl, Velia, additional, Thiel, Silvia, additional, Maresca, Manuel Rodriguez, additional, López-Berrio, Antonio, additional, Aguilar-Quesada, Rocío, additional, and Navarro-Linares, Héctor, additional

Published
2024
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15. Variable immunodeficiency study: Evaluation of two European cohorts within a variety of clinical phenotypes

Author

Guevara-Hoyer, Kissy et al., Neves, Esmeralda, Gil López, Celia, Recio Hoyas, María José, Fernández Arquero, Miguel, Ramos Amador, José Tomás, Sánchez Ramón, Silvia María, Guevara-Hoyer, Kissy et al., Neves, Esmeralda, Gil López, Celia, Recio Hoyas, María José, Fernández Arquero, Miguel, Ramos Amador, José Tomás, and Sánchez Ramón, Silvia María

Abstract

Introduction: Given the wide heterogeneity of common variable immunodeficiency (CVID), several groups have proposed clinical and immunological classifications to better define follow-up and prognostic algorithms. The present study aims to validate recent clinical and laboratory algorithms, based on different combinations of CVID biomarkers, to provide more personalized treatment and follow-up strategies. Methods: We analysed clinical and immunological features of 80 patients with suspected or diagnosed CVID, in two reference centres of Portugal and Spain. Clinical manifestations were categorized into clinical phenotyping proposed by Chapel et al. [1] that included cytopenia; polyclonal lymphocytic infiltration; unexplained enteropathy; and no disease-related complications. Results: 76% of patients in our cohort entered one of the four categories of clinical phenotyping, without overlap (cytopenia; polyclonal lymphocytic infiltration; unexplained enteropathy; and no disease-related complications). The most prominent phenotype was "cytopenia" (40%) followed by "polyclonal lymphocytic infiltration" (19%). The remaining 24% patients of our cohort had overlap of 2 clinical phenotypes (cytopenia and unexplained enteropathy mainly). A delay of CVID diagnosis in more than 6 years presented 3.7-fold higher risk of developing lymphoproliferation and/or malignancy (p < 0.05), and was associated with increased CD8+CD45RO + T-lymphocytes (p < 0.05). An association between decreased switched-memory B cells with lymphoproliferation and malignancy was observed (p < 0.03 and p < 0.05, respectively). CD4 + T-lymphocytopenia correlated with autoimmune phenotype, with 30% prevalence (p < 0.05). HLA-DR7 expression was related to CVID onset in early life in our patients (13 vs 25 years), and DQ2.5 or DQ2.2 with unexplained enteropathy (p < 0.05). Conclusions: The phenotypic and genetic study is crucial for an adequate clinical orientation of CVID patients. In these two independent cohort, European Federation of Immunological Societies (EFIS), Depto. de Inmunología, Oftalmología y ORL, Fac. de Medicina, TRUE, pub

Published
2024

27. Late onset neuromyelitis optica spectrum disorders (LONMOSD) from a nationwide Portuguese study: Anti-AQP4 positive, anti-MOG positive and seronegative subgroups

Author

Santos, Ernestina, primary, Moura, João, additional, Samões, Raquel, additional, Sousa, Ana Paula, additional, Mendonça, Teresa, additional, Abreu, Pedro, additional, Guimarães, Joana, additional, Correia, Inês, additional, Durães, Joao, additional, Sousa, Lívia, additional, Ferreira, João, additional, de Sá, João, additional, Sousa, Filipa, additional, Sequeira, Marta, additional, Correia, Ana Sofia, additional, André, Ana Luísa, additional, Basílio, Carlos, additional, Arenga, Marta, additional, Marques, Inês Brás, additional, Perdigão, Sandra, additional, Alves, Ivânia, additional, Santos, Mariana, additional, Salgado, Vasco, additional, Palos, Adelaide, additional, Guerreiro, Rui, additional, Isidoro, Luís, additional, Boleixa, Daniela, additional, Carneiro, Paula, additional, Neves, Esmeralda, additional, Silva, Ana Martins, additional, Gonçalves, Guilherme, additional, and Sá, Maria José, additional

Published
2022
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31. A new molecular classification to drive precision treatment strategies in primary Sjögren’s syndrome

Author

Soret, Perrine, Le Dantec, Christelle, Desvaux, Emiko, Foulquier, Nathan, Chassagnol, Bastien, Hubert, Sandra, Christophe, Jamin, Barturen, Guillermo, Desachy, Guillaume, Devauchelle-Pensec, Valérie, Boudjeniba, Cheïma, Cornec, Divi, Saraux, Alain, Jousse-Joulin, Sandrine, Barbarroja, Nuria, Rodríguez-Pintó, Ignasi, de Langhe, Ellen, Beretta, Lorenzo, Chizzolini, Carlo, Kovács, László, Witte, Torsten, Bettacchioli, Eléonore, Buttgereit, Anne, Makowska, Zuzanna, Lesche, Ralf, Borghi, Maria Orietta, Martin, Javier, Courtade-Gaiani, Sophie, Xuereb, Laura, Guedj, Mickaël, Moingeon, Philippe, Alarcón-Riquelme, Marta, Laigle, Laurence, Pers, Jacques-Olivier, Vigone, Barbara, Lauwerys, Bernard, Maudoux, Anne-Lise, Vasconcelos, Carlos, Tavares, Ana, Faria, Raquel, Brandão, Mariana, Campar, Ana, Marinho, António, Farinha, Fátima, Almeida, Isabel, Gonzalez-Gay Mantecón, Miguel Angel, Blanco Alonso, Ricardo, Corrales Martínez, Alfonso, Cervera, Ricard, Espinosa, Gerard, Lories, Rik, Hunzelmann, Nicolas, Belz, Doreen, Baerlecken, Niklas, Stummvoll, Georg, Zauner, Michael, Lehner, Michaela, Collantes, Eduardo, Ortega-Castro, Rafaela, Aguirre-Zamorano, Ma Angeles, Escudero-Contreras, Alejandro, Castro-Villegas, Ma Carmen, Jiménez Gómez, Yolanda, Ortego, Norberto, Fernández Roldán, María Concepción, Raya, Enrique, Jiménez Moleón, Inmaculada, de Ramon, Enrique, Díaz Quintero, Isabel, Meroni, Pier Luigi, Gerosa, Maria, Schioppo, Tommaso, Artusi, Carolina, Zuber, Aleksandra, Wynar, Donatienne, Balog, Attila, Deák, Magdolna, Bocskai, Márta, Dulic, Sonja, Kádár, Gabriella, Hiepe, Falk, Thiel, Silvia, Rodriguez Maresca, Manuel, López-Berrio, Antonio, Aguilar-Quesada, Rocío, Navarro-Linares, Héctor, Ioannou, Yiannis, Chamberlain, Chris, Marovac, Jacqueline, Alarcón Riquelme, Marta, Gomes Anjos, Tania, Marañón, Concepción, Le Lann, Lucas, Simon, Quentin, Rouvière, Bénédicte, Varela, Nieves, Muchmore, Brian, Dufour, Aleksandra, Alvarez, Montserrat, Cremer, Jonathan, Lopez-Pedrera, Chary, Gerl, Velia, Khodadadi, Laleh, Cheng, Qingyu, de Groof, Aurélie, Ducreux, Julie, Trombetta, Elena, Li, Tianlu, Alvarez-Errico, Damiana, Kniesch, Katja, Azevedo, Nancy, Neves, Esmeralda, Rao, Sambasiva, Jouve, Pierre-Emmanuel, Institut de Recherches Internationales Servier [Suresnes] (IRIS), Lymphocytes B, Autoimmunité et Immunothérapies (LBAI), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-LabEX IGO Immunothérapie Grand Ouest, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Centre for Genomics and Oncological Reearch (GENYO), CHRU Brest - Service de Rhumatologie (CHU - BREST - Rhumato), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Instituto Maimonides de Investigación Biomédica de Cordoba (IMIBIC), Universidad de Córdoba = University of Córdoba [Córdoba]-Hospital Universitario Reina Sofía, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Maggiore Hospital, IRCCS Foundation, Milano, Department of Pathology and Immunology [Geneva, Switzerland], Université de Genève = University of Geneva (UNIGE), University of Szeged [Szeged], Clinic for Immunology and Rhematology, Hannover Medical School, Hanover, Germany, Hôpital Morvan - CHRU de Brest (CHU - BREST ), Pharmaceuticals Division Bayer Pharma Aktiengesellschaft, Università degli Studi di Milano = University of Milan (UNIMI), Instituto de Parasitología y Biomedicina 'López-Neyra' (IPBLN), Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Granada = University of Granada (UGR), and Michel, Geneviève

Subjects
MESH: Databases, Protein, MESH: Inflammation, [SDV.IMM] Life Sciences [q-bio]/Immunology, MESH: Flow Cytometry, MESH: Cross-Sectional Studies, MESH: DNA Methylation, MESH: Computer Simulation, cell cycle, chronic lymphocytic leukemia, liquid chromatography-tandem mass spectrometry, splicing, MESH: Autoantibodies, MESH: Interferons, MESH: RNA-Seq, MESH: Cohort Studies, MESH: Databases, Genetic, MESH: Cytokines, MESH: Humans, MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, MESH: Transcriptome, MESH: Adult, MESH: Chemokines, MESH: Male, MESH: Proteome, MESH: Sjogren's Syndrome, MESH: Genome-Wide Association Study, MESH: Biomarkers, MESH: Multigene Family, [SDV.IMM]Life Sciences [q-bio]/Immunology, MESH: Female, MESH: Computational Biology
Abstract

International audience; Abstract There is currently no approved treatment for primary Sjögren’s syndrome, a disease that primarily affects adult women. The difficulty in developing effective therapies is -in part- because of the heterogeneity in the clinical manifestation and pathophysiology of the disease. Finding common molecular signatures among patient subgroups could improve our understanding of disease etiology, and facilitate the development of targeted therapeutics. Here, we report, in a cross-sectional cohort, a molecular classification scheme for Sjögren’s syndrome patients based on the multi-omic profiling of whole blood samples from a European cohort of over 300 patients, and a similar number of age and gender-matched healthy volunteers. Using transcriptomic, genomic, epigenetic, cytokine expression and flow cytometry data, combined with clinical parameters, we identify four groups of patients with distinct patterns of immune dysregulation. The biomarkers we identify can be used by machine learning classifiers to sort future patients into subgroups, allowing the re-evaluation of response to treatments in clinical trials.

Published
2021

34. Lymphocytes and Infection in Autoimmune Diseases

Author

Carvalheiras, Graziela, primary, Brandão, Mariana, additional, Domingues, Vital, additional, Neves, Esmeralda, additional, Vasconcelos, Júlia, additional, Almeida, Isabel, additional, and Vasconcelos, Carlos, additional

Published
2015
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35. Contributors

Author

Abdurakhmanov, Alexander, primary, Abu-Shakra, Mahmoud, additional, Afanasyeva, Marina, additional, Agmon-Levin, Nancy, additional, Albert, Paul J., additional, Almeida, Isabel, additional, Alves, Rute, additional, Amital, Howard, additional, Andrade, Paulo, additional, Antonelli, Alessandro, additional, Puccetti, Antonio, additional, Arango, María-Teresa, additional, Atzeni, Fabiola, additional, Baird, Alison E., additional, Balbir-Gurman, Alexandra, additional, Bashi, Tomer, additional, Batticciotto, Alberto, additional, Benucci, Maurizio, additional, Blank, Miri, additional, Bogdanos, Dimitrios P., additional, Bombardieri, S., additional, Borella, E., additional, Bosis, Samantha, additional, Bournia, Vasiliki Kalliopi, additional, Brandão, Mariana, additional, Braun-Moscovici, Yolanda, additional, Brender-Gotlieb, Neta, additional, Cainelli, Francesca, additional, Caldas, Cezar Augusto Muniz, additional, Campar, A., additional, Carvalheiras, Graziela, additional, Cervera, R., additional, Chapman, Joab, additional, Chastain, Emily M.L., additional, Claudio, Lunardi, additional, Cohen, Eytan, additional, Conti, Fabrizio, additional, Correia, J., additional, Carvalho, Jozélio Freire de, additional, Rossa, A. Della, additional, Detrick, Barbara, additional, Deutsch, Melanie, additional, Di Domenicantonio, Andrea, additional, Domeneghetti, M., additional, Domingues, Vital, additional, Doria, A., additional, Dow, Coad Thomas, additional, Dreyfus, David H., additional, Drouin, Elise E., additional, Dubaniewicz, Anna, additional, Durai, Malarvizhi, additional, Ebringer, Alan, additional, Ehrenfeld, Michael, additional, Elisa, Tinazzi, additional, Esposito, Susanna, additional, Fallahi, Poupak, additional, Faria, Raquel, additional, Farinha, Fátima, additional, Ferrannini, Ele, additional, Ferrari, Silvia Martina, additional, Ferreira, Alvaro, additional, Ferrão, C., additional, Garg, Ravindra Kumar, additional, Gatto, M., additional, Ghirardello, A., additional, Giovanna, Zanoni, additional, Giuseppe, Patuzzo, additional, Givaty, Gili, additional, Guilherme, Luiza, additional, Hammerstad, Sara Salehi, additional, Hodak, Emillia, additional, Hooks, John J., additional, Iaccarino, L., additional, Invernizzi, Pietro, additional, Israeli, Eitan, additional, Jamin, Christophe, additional, Janket, Sok-Ja, additional, Jarčuška, Peter, additional, Jones, Rodney P., additional, Kalil, Jorge, additional, Kanasi, Eleni, additional, Kivity, Shaye, additional, Konikoff, Tom, additional, Kozáková, D., additional, Krause, Ilan, additional, Lerner, Aaron, additional, Lidar, Merav, additional, Ling, Eduard, additional, Mahajna, Hussein, additional, Mahroum, Naim, additional, Maoz-Segal, Ramit, additional, Marinho, António, additional, Marshall, Trevor G., additional, Martinelli, Maria, additional, Marzia, Dolcino, additional, Mavragani, Clio P., additional, Mendonça, Teresa, additional, Miller, Stephen D., additional, Mimouni, Daniel, additional, Monteiro, Marta, additional, Moudgil, Kamal D., additional, Moulton, Vaishali R., additional, Moutsopoulos, Haralampos M., additional, Nagpal, Kamalpreet, additional, Neves, Esmeralda, additional, Nussenblatt, Robert, additional, Ollech, Ayelet, additional, Palma, L., additional, Pasoto, Sandra Gofinet, additional, Pella, Daniel, additional, Pereira, Cláudia, additional, Perricone, Carlo, additional, Petríková, Jana, additional, Proal, Amy D., additional, Rashid, Taha, additional, Reif, Shimon, additional, Renaudineau, Yves, additional, Ribeiro, Francinne Machado, additional, Rigante, Donato, additional, Rigopoulou, Eirini I., additional, Rose, Noel R., additional, Rosário, Cristina, additional, Rovenský, J., additional, Sakkas, Lazaros I., additional, Sarzi-Puttini, Piercarlo, additional, Seguro, Luciana Parente Costa, additional, Semino, Margherita, additional, Shoenfeld, Yehuda, additional, Silva, S., additional, Simonin, Laurent, additional, Smyk, Daniel S., additional, Sousa, Rita Catarina Medeiros, additional, Stagnaro, C., additional, Steere, Allen C., additional, Strle, Klemen, additional, Tektonidou, Maria G., additional, Tishler, Moshe, additional, Tomer, Yaron, additional, Toubi, Elias, additional, Tsokos, George C., additional, Vadasz, Zahava, additional, Valesini, Guido, additional, Vasconcelos, Carlos, additional, Vasconcelos, Júlia, additional, Vassilopoulos, Dimitrios, additional, Venkatesha, Shivaprasad H., additional, Vento, Sandro, additional, Viale, Christophe, additional, Villanueva, Ronald, additional, Vita, Pedro, additional, Wilson, Clyde, additional, Youinou, Pierre, additional, Záňová, E., additional, Zandman-Goddard, Gisele, additional, and Zen, M., additional

Published
2015
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37. Neuromyelitis optica spectrum disorders: A nationwide Portuguese clinical epidemiological study

Author

Santos, Ernestina, primary, Rocha, Ana Luísa, additional, Oliveira, Vanessa, additional, Ferro, Daniela, additional, Samões, Raquel, additional, Sousa, Ana Paula, additional, Figueiroa, Sónia, additional, Mendonça, Teresa, additional, Abreu, Pedro, additional, Guimarães, Joana, additional, Sousa, Raquel, additional, Melo, Cláudia, additional, Correia, Inês, additional, Durães, Joao, additional, Sousa, Lívia, additional, Ferreira, João, additional, de Sá, João, additional, Sousa, Filipa, additional, Sequeira, Marta, additional, Correia, Ana Sofia, additional, André, Ana Luísa, additional, Basílio, Carlos, additional, Arenga, Marta, additional, Mendes, Irene, additional, Marques, Inês Brás, additional, Perdigão, Sandra, additional, Felgueiras, Helena, additional, Alves, Ivânia, additional, Correia, Filipe, additional, Barroso, Cândida, additional, Morganho, Armando, additional, Carmona, Cátia, additional, Palavra, Filipe, additional, Santos, Mariana, additional, Salgado, Vasco, additional, Palos, Adelaide, additional, Nzwalo, Hipólito, additional, Timóteo, Angela, additional, Guerreiro, Rui, additional, Isidoro, Luís, additional, Boleixa, Daniela, additional, Carneiro, Paula, additional, Neves, Esmeralda, additional, Silva, Ana Martins, additional, Gonçalves, Guilherme, additional, Leite, Maria Isabel, additional, and Sá, Maria José, additional

Published
2021
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41. Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature

Author

Teruel, María, Barturen, Guillermo, Martínez Bueno, Manuel, Castellini Pérez, Olivia, Barroso Gil, Miguel, Povedano, Elena, Kerick, Martin, Català Moll, Francesc, Makowska, Zuzanna, Buttgereit, Anne, Beretta, Lorenzo, Chizzolini, Carlo, Zuber, Aleksandra, Wynar, Donatienne, Kovács, Laszló, Balog, Attila, Deák, Magdolna, Bocskai, Márta, Dulic, Sonja, Kádár, Gabriella, Hiepe, Falk, Gerl, Velia, Thiel, Silvia, Rodriguez Maresca, Manuel, López Berrio, Antonio, Aguilar Quesada, Rocío, Navarro Linares, Héctor, Alvarez, Montserrat, Álvarez Errico, Damiana, Azevedo, Nancy, Barbarroja, Nuria, Cheng, Qingyu, Cremer, Jonathan, Groof, Aurélie de, Langhe, Ellen de, Ducreux, Julie, Dufour, Aleksandra, Hernández Fuentes, María, Khodadadi, Laleh, Kniesch, Katja, Li, Tianlu, López Pedrera, Chary, Marañón, Concepción, Muchmore, Brian, Neves, Esmeralda, Rouvière, Bénédicte, Simon, Quentin, Trombetta, Elena, Varela, Nieves, Witte, Torsten, Pers, Jacques-olivier, Ballestar, Esteban, Martin, Javier, Carnero Montoro, Elena, Alarcón Riquelme, Marta, Precisesads Clinical Consortium, Precisesads Flow Cytometry Study Group, Vigone, Barbara, Pers, Jacques Olivier, Saraux, Alain, Devauchelle-Pensec, Valérie, Cornec, Divi, Jousse-Joulin, Sandrine, Lauwerys, Bernard, Maudoux, Anne-lise, Vasconcelos, Carlos, Tavares, Ana, Faria, Raquel, Brandão, Mariana, Campar, Ana, Marinho, António, Farinha, Fátima, Almeida, Isabel, Gonzalez-Gay Mantecón, Miguel Ángel, Blanco Alonso, Ricardo, Corrales Martínez, Alfonso, Cervera, Ricard, Rodríguez Pintó, Ignasi, Espinosa, Gerard, Lories, Rik, Hunzelmann, Nicolas, Belz, Doreen, Baerlecken, Niklas, Stummvoll, Georg, Zauner, Michael, Lehner, Michaela, Collantes, Eduardo, Ortega Castro, Rafaela, Aguirre Zamorano, Mª Angeles, Escudero Contreras, Alejandro, Castro Villegas, Mª Carmen, Ortego, Norberto, Fernández Roldán, María Concepción, Raya, Enrique, Jiménez Moleón, Inmaculada, Ramon, Enrique de, Díaz Quintero, Isabel, Meroni, Pier Luigi, Gerosa, Maria, Schioppo, Tommaso, Artusi, Carolina, PRECISESADS Clinical Consortium, PRECISESADS Flow Cytometry Study Group, [Teruel,M, Barturen,G, Martínez-Bueno,M, Castellini-Pérez,O, Barroso-Gil,M, Povedano,E, Marañón,C, Carnero-Montoro,E, Alarcón-Riquelme,ME] GENYO, Center for Genomics and Oncological Research Pfizer/University of Granada/Andalusian Regional Government, Granada, Spain. [Kerick,M, Martin,J] IPBLN-CSIC, Instituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científcas, Granada, Spain. [Català-Moll,F, Ballestar,E] Epigenetics and Immune Disease Group, Josep Carreras Research Institute (IJC), Badalona, Barcelona, Spain. [Català-Moll,F, Ballestar,E] IDIBELL, Bellvitge Biomedical Research Institute L’Hospitalet de Llobregat, Barcelona, Spain. [Makowska,Z, Buttgereit,A] Pharmaceuticals Division, Bayer Pharma Aktiengesellschaft, Berlin, Germany. [Pers,JO] Université de Brest, INSERM, Labex IGO, CHU de Brest, Brest, France.[Alarcón-Riquelme,ME] Institute for Environmental Medicine, Karolinska Institutet, Solna, Sweden., and Funding for the preparation of this manuscript has received support from the Innovative Medicines Initiative Joint Undertaking under grant agreement nº 115,565, resources composed of the financial contribution from the European Union's Seventh Framework Program (FP7/2007-2013) and the EFPIA companies’ in kind contribution. MT is supported by a Spanish grant from Health Department, Junta de Andalucía (PI/0017/2016) and through the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 806975. This Joint Undertaking receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA. EC-M was funded by the Postdoctoral Training Subprogramme Juan de la Cierva-Ministry of Economy and Competitiveness (FJCI_2014_20652). We thank Ralf Lesche for the production of RNASeq data and Marc Torres Ciuró for design support.

Subjects
Epigenomics, Male, Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation [Medical Subject Headings], Autoimmune diseases, Gene Expression, Quantitative trait, Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Interferons [Medical Subject Headings], 0302 clinical medicine, Rheumatic diseases, HLA Antigens, Genetics, Regulation of gene expression, 0303 health sciences, education.field_of_study, Multidisciplinary, Malalties autoimmunitàries, Molecular medicine, Epigenetic, Autoanticuerpos, Genomics, Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics::Epigenomics [Medical Subject Headings], 3. Good health, Sjogren's Syndrome, DNA methylation, Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Biochemical Processes::DNA Methylation [Medical Subject Headings], Medicine, Chemicals and Drugs::Biological Factors::Antigens::Antigens, Surface::Histocompatibility Antigens::HLA Antigens [Medical Subject Headings], Epigenetics, Female, Phenomena and Processes::Genetic Phenomena::Genetic Variation [Medical Subject Headings], Extracellular matrix organization, Science, Population, Check Tags::Male [Medical Subject Headings], Human leukocyte antigen, Biology, Variación genética, Article, 03 medical and health sciences, Rheumatology, Enfermedades autoinmunes, Diseases::Immune System Diseases::Autoimmune Diseases [Medical Subject Headings], Immunogenetics, Diseases::Immune System Diseases::Autoimmune Diseases::Arthritis, Rheumatoid::Sjogren's Syndrome [Medical Subject Headings], Humans, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Blood Proteins::Immunoproteins::Immunoglobulins::Antibodies [Medical Subject Headings], education, Gene, 030304 developmental biology, Autoantibodies, 030203 arthritis & rheumatology, Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation::Epigenesis, Genetic [Medical Subject Headings], Genetic Variation, DNA Methylation, Epigenètica, Check Tags::Female [Medical Subject Headings], Gene Expression Regulation, Epigenómica, Síndrome de Sjögren, Interferons, Expresión génica
Abstract

Funding for the preparation of this manuscript has received support from the Innovative Medicines Initiative Joint Undertaking under grant agreement no 115,565, resources composed of the financial contribution from the European Union's Seventh Framework Program (FP7/2007-2013) and the EFPIA companies' in kind contribution. MT is supported by a Spanish grant from Health Department, Junta de Andalucia (PI/0017/2016) and through the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 806975. This Joint Undertaking receives support from the European Union's Horizon 2020 research and innovation programme and EFPIA. EC-M was funded by the Postdoctoral Training Subprogramme Juan de la Cierva-Ministry of Economy and Competitiveness (FJCI_2014_20652). We thank Ralf Lesche for the production of RNASeq data and Marc Torres Ciuro for design support., Primary Sjögren’s syndrome (SS) is a systemic autoimmune disease characterized by lymphocytic infiltration and damage of exocrine salivary and lacrimal glands. The etiology of SS is complex with environmental triggers and genetic factors involved. By conducting an integrated multi-omics study, we confirmed a vast coordinated hypomethylation and overexpression effects in IFN-related genes, what is known as the IFN signature. Stratified and conditional analyses suggest a strong interaction between SS-associated HLA genetic variation and the presence of Anti-Ro/SSA autoantibodies in driving the IFN epigenetic signature and determining SS. We report a novel epigenetic signature characterized by increased DNA methylation levels in a large number of genes enriched in pathways such as collagen metabolism and extracellular matrix organization. We identified potential new genetic variants associated with SS that might mediate their risk by altering DNA methylation or gene expression patterns, as well as disease-interacting genetic variants that exhibit regulatory function only in the SS population. Our study sheds new light on the interaction between genetics, autoantibody profiles, DNA methylation and gene expression in SS, and contributes to elucidate the genetic architecture of gene regulation in an autoimmune population., Innovative Medicines Initiative Joint Undertaking from the European Union's Seventh Framework Program (FP7/2007-2013) 115,565, EFPIA companies, Junta de Andalucia PI/0017/2016, Innovative Medicines Initiative 2 Joint Undertaking 806975 European Union's Horizon 2020 research and innovation programme, EFPIA, Postdoctoral Training Subprogramme Juan de la Cierva-Ministry of Economy and Competitiveness FJCI_2014_20652

Published
2021

42. Integrative Analysis Reveals a Molecular Stratification of Systemic Autoimmune Diseases

Author

Barturen, Guillermo, Babaei, Sepideh, Catala-Moll, Francesc, Martinez-Bueno, Manuel, Makowska, Zuzanna, Martorell-Marugan, Jordi, Carmona-Saez, Pedro, Toro-Dominguez, Daniel, Carnero-Montoro, Elena, Teruel, Maria, Kerick, Martin, Acosta-Herrera, Marialbert, Le Lann, Lucas, Jamin, Christophe, Rodriguez-Ubreva, Javier, Garcia-Gomez, Antonio, Kageyama, Jorge, Buttgereit, Anne, Hayat, Sikander, Mueller, Joerg, Lesche, Ralf, Hernandez-Fuentes, Maria, Juarez, Maria, Rowley, Tania, White, Ian, Maranon, Concepcion, Gomes Anjos, Tania, Varela, Nieves, Aguilar-Quesada, Rocio, Garrancho, Francisco Javier, Lopez-Berrio, Antonio, Rodriguez Maresca, Manuel, Navarro-Linares, Hector, Almeida, Isabel, Azevedo, Nancy, Brandao, Mariana, Campar, Ana, Faria, Raquel, Farinha, Fatima, Marinho, Antonio, Neves, Esmeralda, Tavares, Ana, Vasconcelos, Carlos, Trombetta, Elena, Montanelli, Gaia, Vigone, Barbara, Alvarez-Errico, Damiana, Li, Tianlu, Thiagaran, Divya, Blanco Alonso, Ricardo, Corrales Martinez, Alfonso, Genre, Fernanda, Lopez Mejias, Raquel, Gonzalez-Gay, Miguel A., Remuzgo, Sara, Ubilla Garcia, Begona, Cervera, Ricard, Espinosa, Gerard, Rodriguez-Pinto, Ignasi, De Langhe, Ellen, Cremer, Jonathan, Lories, Rik, Belz, Doreen, Hunzelmann, Nicolas, Baerlecken, Niklas, Kniesch, Katja, Witte, Torsten, Lehner, Michaela, Stummvoll, Georg, Zauner, Michael, Aguirre-Zamorano, Maria Angeles, Barbarroja, Nuria, Castro-Villegas, Maria Carmen, Collantes-Estevez, Eduardo, de Ramon, Enrique, Diaz Quintero, Isabel, Escudero-Contreras, Alejandro, Fernandez Roldan, Maria Concepcion, Jimenez Gomez, Yolanda, Jimenez Moleon, Inmaculada, Lopez-Pedrera, Rosario, Ortega-Castro, Rafaela, Ortego, Norberto, Raya, Enrique, Artusi, Carolina, Gerosa, Maria, Meroni, Pier Luigi, Schioppo, Tommaso, De Groof, Aurelie, Ducreux, Julie, Lauwerys, Bernard, Maudoux, Anne-Lise, Cornec, Divi, Devauchelle-Pensec, Valerie, Jousse-Joulin, Sandrine, Jouve, Pierre-Emmanuel, Rouviere, Benedicte, Saraux, Alain, Simon, Quentin, Alvarez, Montserrat, Chizzolini, Carlo, Dufour, Aleksandra, Wynar, Donatienne, Balog, Attila, Bocskai, Marta, Deak, Magdolna, Dulic, Sonja, Kadar, Gabriella, Kovacs, Laszlo, Cheng, Qingyu, Gerl, Velia, Hiepe, Falk, Khodadadi, Laleh, Thiel, Silvia, de Rinaldis, Emanuele, Rao, Sambasiva, Benschop, Robert J., Chamberlain, Chris, Dow, Ernst R., Ioannou, Yiannis, Laigle, Laurence, Marovac, Jacqueline, Wojcik, Jerome, Renaudineau, Yves, Borghi, Maria Orietta, Frostegard, Johan, Martin, Javier, Beretta, Lorenzo, Ballestar, Esteban, McDonald, Fiona, Pers, Jacques-Olivier, Alarcon-Riquelme, Marta E., Barturen, Guillermo, Babaei, Sepideh, Catala-Moll, Francesc, Martinez-Bueno, Manuel, Makowska, Zuzanna, Martorell-Marugan, Jordi, Carmona-Saez, Pedro, Toro-Dominguez, Daniel, Carnero-Montoro, Elena, Teruel, Maria, Kerick, Martin, Acosta-Herrera, Marialbert, Le Lann, Lucas, Jamin, Christophe, Rodriguez-Ubreva, Javier, Garcia-Gomez, Antonio, Kageyama, Jorge, Buttgereit, Anne, Hayat, Sikander, Mueller, Joerg, Lesche, Ralf, Hernandez-Fuentes, Maria, Juarez, Maria, Rowley, Tania, White, Ian, Maranon, Concepcion, Gomes Anjos, Tania, Varela, Nieves, Aguilar-Quesada, Rocio, Garrancho, Francisco Javier, Lopez-Berrio, Antonio, Rodriguez Maresca, Manuel, Navarro-Linares, Hector, Almeida, Isabel, Azevedo, Nancy, Brandao, Mariana, Campar, Ana, Faria, Raquel, Farinha, Fatima, Marinho, Antonio, Neves, Esmeralda, Tavares, Ana, Vasconcelos, Carlos, Trombetta, Elena, Montanelli, Gaia, Vigone, Barbara, Alvarez-Errico, Damiana, Li, Tianlu, Thiagaran, Divya, Blanco Alonso, Ricardo, Corrales Martinez, Alfonso, Genre, Fernanda, Lopez Mejias, Raquel, Gonzalez-Gay, Miguel A., Remuzgo, Sara, Ubilla Garcia, Begona, Cervera, Ricard, Espinosa, Gerard, Rodriguez-Pinto, Ignasi, De Langhe, Ellen, Cremer, Jonathan, Lories, Rik, Belz, Doreen, Hunzelmann, Nicolas, Baerlecken, Niklas, Kniesch, Katja, Witte, Torsten, Lehner, Michaela, Stummvoll, Georg, Zauner, Michael, Aguirre-Zamorano, Maria Angeles, Barbarroja, Nuria, Castro-Villegas, Maria Carmen, Collantes-Estevez, Eduardo, de Ramon, Enrique, Diaz Quintero, Isabel, Escudero-Contreras, Alejandro, Fernandez Roldan, Maria Concepcion, Jimenez Gomez, Yolanda, Jimenez Moleon, Inmaculada, Lopez-Pedrera, Rosario, Ortega-Castro, Rafaela, Ortego, Norberto, Raya, Enrique, Artusi, Carolina, Gerosa, Maria, Meroni, Pier Luigi, Schioppo, Tommaso, De Groof, Aurelie, Ducreux, Julie, Lauwerys, Bernard, Maudoux, Anne-Lise, Cornec, Divi, Devauchelle-Pensec, Valerie, Jousse-Joulin, Sandrine, Jouve, Pierre-Emmanuel, Rouviere, Benedicte, Saraux, Alain, Simon, Quentin, Alvarez, Montserrat, Chizzolini, Carlo, Dufour, Aleksandra, Wynar, Donatienne, Balog, Attila, Bocskai, Marta, Deak, Magdolna, Dulic, Sonja, Kadar, Gabriella, Kovacs, Laszlo, Cheng, Qingyu, Gerl, Velia, Hiepe, Falk, Khodadadi, Laleh, Thiel, Silvia, de Rinaldis, Emanuele, Rao, Sambasiva, Benschop, Robert J., Chamberlain, Chris, Dow, Ernst R., Ioannou, Yiannis, Laigle, Laurence, Marovac, Jacqueline, Wojcik, Jerome, Renaudineau, Yves, Borghi, Maria Orietta, Frostegard, Johan, Martin, Javier, Beretta, Lorenzo, Ballestar, Esteban, McDonald, Fiona, Pers, Jacques-Olivier, and Alarcon-Riquelme, Marta E.

Abstract

Objective Clinical heterogeneity, a hallmark of systemic autoimmune diseases, impedes early diagnosis and effective treatment, issues that may be addressed if patients could be classified into groups defined by molecular pattern. This study was undertaken to identify molecular clusters for reclassifying systemic autoimmune diseases independently of clinical diagnosis. Methods Unsupervised clustering of integrated whole blood transcriptome and methylome cross-sectional data on 955 patients with 7 systemic autoimmune diseases and 267 healthy controls was undertaken. In addition, an inception cohort was prospectively followed up for 6 or 14 months to validate the results and analyze whether or not cluster assignment changed over time. Results Four clusters were identified and validated. Three were pathologic, representing inflammatory, lymphoid, and interferon patterns. Each included all diagnoses and was defined by genetic, clinical, serologic, and cellular features. A fourth cluster with no specific molecular pattern was associated with low disease activity and included healthy controls. A longitudinal and independent inception cohort showed a relapse-remission pattern, where patients remained in their pathologic cluster, moving only to the healthy one, thus showing that the molecular clusters remained stable over time and that single pathogenic molecular signatures characterized each individual patient. Conclusion Patients with systemic autoimmune diseases can be jointly stratified into 3 stable disease clusters with specific molecular patterns differentiating different molecular disease mechanisms. These results have important implications for future clinical trials and the study of nonresponse to therapy, marking a paradigm shift in our view of systemic autoimmune diseases.

Published
2021

43. Integrative Analysis Reveals a Molecular Stratification of Systemic Autoimmune Diseases.

Author

UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de rhumatologie, Alarcón-Riquelme, Marta E, Benschop, Robert J, Balog, Attila, Bocskai, Márta, Deák, Magdolna, Dulic, Sonja, Kádár, Gabriella, Kovács, László, Cheng, Qingyu, Gerl, Velia, Hiepe, Falk, Khodadadi, Laleh, Thiel, Silvia, de Rinaldis, Emanuele, Rao, Sambasiva, Chamberlain, Chris, Dufour, Aleksandra, Dow, Ernst R, Ioannou, Yiannis, Laigle, Laurence, Marovac, Jacqueline, Wojcik, Jerome, Renaudineau, Yves, Borghi, Maria Orietta, Frostegård, Johan, Martín, Javier, Beretta, Lorenzo, Ballestar, Esteban, McDonald, Fiona, Pers, Jacques-Olivier, Wynar, Donatienne, Barturen, Guillermo, Babaei, Sepideh, Català-Moll, Francesc, Martínez-Bueno, Manuel, Makowska, Zuzanna, Martorell-Marugán, Jordi, Carmona-Sáez, Pedro, Toro-Domínguez, Daniel, Carnero-Montoro, Elena, Teruel, María, Kerick, Martin, Acosta-Herrera, Marialbert, Le Lann, Lucas, Jamin, Christophe, Rodríguez-Ubreva, Javier, García-Gómez, Antonio, Kageyama, Jorge, Buttgereit, Anne, Hayat, Sikander, Mueller, Joerg, Lesche, Ralf, Hernandez-Fuentes, Maria, Juarez, Maria, Rowley, Tania, White, Ian, Marañón, Concepción, Gomes Anjos, Tania, Varela, Nieves, Aguilar-Quesada, Rocío, Garrancho, Francisco Javier, López-Berrio, Antonio, Rodriguez Maresca, Manuel, Navarro-Linares, Héctor, Almeida, Isabel, Azevedo, Nancy, Brandão, Mariana, Campar, Ana, Faria, Raquel, Farinha, Fátima, Marinho, António, Neves, Esmeralda, Tavares, Ana, Vasconcelos, Carlos, Trombetta, Elena, Montanelli, Gaia, Vigone, Barbara, Alvarez-Errico, Damiana, Li, Tianlu, Thiagaran, Divya, Blanco Alonso, Ricardo, Corrales Martínez, Alfonso, Genre, Fernanda, López Mejías, Raquel, Gonzalez-Gay, Miguel A, Remuzgo, Sara, Ubilla Garcia, Begoña, Cervera, Ricard, Espinosa, Gerard, Rodríguez-Pintó, Ignasi, De Langhe, Ellen, Cremer, Jonathan, Lories, Rik, Belz, Doreen, Hunzelmann, Nicolas, Baerlecken, Niklas, Kniesch, Katja, Witte, Torsten, Lehner, Michaela, Stummvoll, Georg, Zauner, Michael, Aguirre-Zamorano, Maria Angeles, Barbarroja, Nuria, Castro-Villegas, Maria Carmen, Collantes-Estevez, Eduardo, de Ramon, Enrique, Díaz Quintero, Isabel, Escudero-Contreras, Alejandro, Fernández Roldán, María Concepción, Jiménez Gómez, Yolanda, Jiménez Moleón, Inmaculada, Lopez-Pedrera, Rosario, Ortega-Castro, Rafaela, Ortego, Norberto, Raya, Enrique, Artusi, Carolina, Gerosa, Maria, Meroni, Pier Luigi, Schioppo, Tommaso, De Groof, Aurélie, Ducreux, Julie, Lauwerys, Bernard, Maudoux, Anne-Lise, Cornec, Divi, Devauchelle-Pensec, Valérie, Jousse-Joulin, Sandrine, Jouve, Pierre-Emmanuel, Rouvière, Bénédicte, Saraux, Alain, Simon, Quentin, Alvarez, Montserrat, Chizzolini, Carlo, UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de rhumatologie, Alarcón-Riquelme, Marta E, Benschop, Robert J, Balog, Attila, Bocskai, Márta, Deák, Magdolna, Dulic, Sonja, Kádár, Gabriella, Kovács, László, Cheng, Qingyu, Gerl, Velia, Hiepe, Falk, Khodadadi, Laleh, Thiel, Silvia, de Rinaldis, Emanuele, Rao, Sambasiva, Chamberlain, Chris, Dufour, Aleksandra, Dow, Ernst R, Ioannou, Yiannis, Laigle, Laurence, Marovac, Jacqueline, Wojcik, Jerome, Renaudineau, Yves, Borghi, Maria Orietta, Frostegård, Johan, Martín, Javier, Beretta, Lorenzo, Ballestar, Esteban, McDonald, Fiona, Pers, Jacques-Olivier, Wynar, Donatienne, Barturen, Guillermo, Babaei, Sepideh, Català-Moll, Francesc, Martínez-Bueno, Manuel, Makowska, Zuzanna, Martorell-Marugán, Jordi, Carmona-Sáez, Pedro, Toro-Domínguez, Daniel, Carnero-Montoro, Elena, Teruel, María, Kerick, Martin, Acosta-Herrera, Marialbert, Le Lann, Lucas, Jamin, Christophe, Rodríguez-Ubreva, Javier, García-Gómez, Antonio, Kageyama, Jorge, Buttgereit, Anne, Hayat, Sikander, Mueller, Joerg, Lesche, Ralf, Hernandez-Fuentes, Maria, Juarez, Maria, Rowley, Tania, White, Ian, Marañón, Concepción, Gomes Anjos, Tania, Varela, Nieves, Aguilar-Quesada, Rocío, Garrancho, Francisco Javier, López-Berrio, Antonio, Rodriguez Maresca, Manuel, Navarro-Linares, Héctor, Almeida, Isabel, Azevedo, Nancy, Brandão, Mariana, Campar, Ana, Faria, Raquel, Farinha, Fátima, Marinho, António, Neves, Esmeralda, Tavares, Ana, Vasconcelos, Carlos, Trombetta, Elena, Montanelli, Gaia, Vigone, Barbara, Alvarez-Errico, Damiana, Li, Tianlu, Thiagaran, Divya, Blanco Alonso, Ricardo, Corrales Martínez, Alfonso, Genre, Fernanda, López Mejías, Raquel, Gonzalez-Gay, Miguel A, Remuzgo, Sara, Ubilla Garcia, Begoña, Cervera, Ricard, Espinosa, Gerard, Rodríguez-Pintó, Ignasi, De Langhe, Ellen, Cremer, Jonathan, Lories, Rik, Belz, Doreen, Hunzelmann, Nicolas, Baerlecken, Niklas, Kniesch, Katja, Witte, Torsten, Lehner, Michaela, Stummvoll, Georg, Zauner, Michael, Aguirre-Zamorano, Maria Angeles, Barbarroja, Nuria, Castro-Villegas, Maria Carmen, Collantes-Estevez, Eduardo, de Ramon, Enrique, Díaz Quintero, Isabel, Escudero-Contreras, Alejandro, Fernández Roldán, María Concepción, Jiménez Gómez, Yolanda, Jiménez Moleón, Inmaculada, Lopez-Pedrera, Rosario, Ortega-Castro, Rafaela, Ortego, Norberto, Raya, Enrique, Artusi, Carolina, Gerosa, Maria, Meroni, Pier Luigi, Schioppo, Tommaso, De Groof, Aurélie, Ducreux, Julie, Lauwerys, Bernard, Maudoux, Anne-Lise, Cornec, Divi, Devauchelle-Pensec, Valérie, Jousse-Joulin, Sandrine, Jouve, Pierre-Emmanuel, Rouvière, Bénédicte, Saraux, Alain, Simon, Quentin, Alvarez, Montserrat, and Chizzolini, Carlo

Abstract

OBJECTIVE: Clinical heterogeneity, a hallmark of systemic autoimmune diseases, impedes early diagnosis and effective treatment, issues that may be addressed if patients could be classified into groups defined by molecular pattern. This study was undertaken to identify molecular clusters for reclassifying systemic autoimmune diseases independently of clinical diagnosis. METHODS: Unsupervised clustering of integrated whole blood transcriptome and methylome cross-sectional data on 955 patients with 7 systemic autoimmune diseases and 267 healthy controls was undertaken. In addition, an inception cohort was prospectively followed up for 6 or 14 months to validate the results and analyze whether or not cluster assignment changed over time. RESULTS: Four clusters were identified and validated. Three were pathologic, representing "inflammatory," "lymphoid," and "interferon" patterns. Each included all diagnoses and was defined by genetic, clinical, serologic, and cellular features. A fourth cluster with no specific molecular pattern was associated with low disease activity and included healthy controls. A longitudinal and independent inception cohort showed a relapse-remission pattern, where patients remained in their pathologic cluster, moving only to the healthy one, thus showing that the molecular clusters remained stable over time and that single pathogenic molecular signatures characterized each individual patient. CONCLUSION: Patients with systemic autoimmune diseases can be jointly stratified into 3 stable disease clusters with specific molecular patterns differentiating different molecular disease mechanisms. These results have important implications for future clinical trials and the study of nonresponse to therapy, marking a paradigm shift in our view of systemic autoimmune diseases.

Published
2021

44. International Consensus on Antinuclear Antibody em Portugal

Author

Sousa, Maria José, primary, Neves, Esmeralda, additional, Figueiras, Otília, additional, Cruz, Ana Paula, additional, Fernandes, Isabel, additional, Mendes, Alexandra, additional, Santos, Maria do Céu, additional, Cunha, Rosário, additional, Magueijo, Lídia, additional, Pratas, Cláudia, additional, Miranda, Ana, additional, and Ribeiro, Rita, additional

Published
2021
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45. Integrative Analysis Reveals a Molecular Stratification of Systemic Autoimmune Diseases

Author

Barturen, Guillermo, primary, Babaei, Sepideh, additional, Català‐Moll, Francesc, additional, Martínez‐Bueno, Manuel, additional, Makowska, Zuzanna, additional, Martorell‐Marugán, Jordi, additional, Carmona‐Sáez, Pedro, additional, Toro‐Domínguez, Daniel, additional, Carnero‐Montoro, Elena, additional, Teruel, María, additional, Kerick, Martin, additional, Acosta‐Herrera, Marialbert, additional, Le Lann, Lucas, additional, Jamin, Christophe, additional, Rodríguez‐Ubreva, Javier, additional, García‐Gómez, Antonio, additional, Kageyama, Jorge, additional, Buttgereit, Anne, additional, Hayat, Sikander, additional, Mueller, Joerg, additional, Lesche, Ralf, additional, Hernandez‐Fuentes, Maria, additional, Juarez, Maria, additional, Rowley, Tania, additional, White, Ian, additional, Marañón, Concepción, additional, Gomes Anjos, Tania, additional, Varela, Nieves, additional, Aguilar‐Quesada, Rocío, additional, Garrancho, Francisco Javier, additional, López‐Berrio, Antonio, additional, Rodriguez Maresca, Manuel, additional, Navarro‐Linares, Héctor, additional, Almeida, Isabel, additional, Azevedo, Nancy, additional, Brandão, Mariana, additional, Campar, Ana, additional, Faria, Raquel, additional, Farinha, Fátima, additional, Marinho, António, additional, Neves, Esmeralda, additional, Tavares, Ana, additional, Vasconcelos, Carlos, additional, Trombetta, Elena, additional, Montanelli, Gaia, additional, Vigone, Barbara, additional, Alvarez‐Errico, Damiana, additional, Li, Tianlu, additional, Thiagaran, Divya, additional, Blanco Alonso, Ricardo, additional, Corrales Martínez, Alfonso, additional, Genre, Fernanda, additional, López Mejías, Raquel, additional, Gonzalez‐Gay, Miguel A., additional, Remuzgo, Sara, additional, Ubilla Garcia, Begoña, additional, Cervera, Ricard, additional, Espinosa, Gerard, additional, Rodríguez‐Pintó, Ignasi, additional, De Langhe, Ellen, additional, Cremer, Jonathan, additional, Lories, Rik, additional, Belz, Doreen, additional, Hunzelmann, Nicolas, additional, Baerlecken, Niklas, additional, Kniesch, Katja, additional, Witte, Torsten, additional, Lehner, Michaela, additional, Stummvoll, Georg, additional, Zauner, Michael, additional, Aguirre‐Zamorano, Maria Angeles, additional, Barbarroja, Nuria, additional, Castro‐Villegas, Maria Carmen, additional, Collantes‐Estevez, Eduardo, additional, Ramon, Enrique, additional, Díaz Quintero, Isabel, additional, Escudero‐Contreras, Alejandro, additional, Fernández Roldán, María Concepción, additional, Jiménez Gómez, Yolanda, additional, Jiménez Moleón, Inmaculada, additional, Lopez‐Pedrera, Rosario, additional, Ortega‐Castro, Rafaela, additional, Ortego, Norberto, additional, Raya, Enrique, additional, Artusi, Carolina, additional, Gerosa, Maria, additional, Meroni, Pier Luigi, additional, Schioppo, Tommaso, additional, De Groof, Aurélie, additional, Ducreux, Julie, additional, Lauwerys, Bernard, additional, Maudoux, Anne‐Lise, additional, Cornec, Divi, additional, Devauchelle‐Pensec, Valérie, additional, Jousse‐Joulin, Sandrine, additional, Jouve, Pierre‐Emmanuel, additional, Rouvière, Bénédicte, additional, Saraux, Alain, additional, Simon, Quentin, additional, Alvarez, Montserrat, additional, Chizzolini, Carlo, additional, Dufour, Aleksandra, additional, Wynar, Donatienne, additional, Balog, Attila, additional, Bocskai, Márta, additional, Deák, Magdolna, additional, Dulic, Sonja, additional, Kádár, Gabriella, additional, Kovács, László, additional, Cheng, Qingyu, additional, Gerl, Velia, additional, Hiepe, Falk, additional, Khodadadi, Laleh, additional, Thiel, Silvia, additional, Rinaldis, Emanuele, additional, Rao, Sambasiva, additional, Benschop, Robert J., additional, Chamberlain, Chris, additional, Dow, Ernst R., additional, Ioannou, Yiannis, additional, Laigle, Laurence, additional, Marovac, Jacqueline, additional, Wojcik, Jerome, additional, Renaudineau, Yves, additional, Borghi, Maria Orietta, additional, Frostegård, Johan, additional, Martín, Javier, additional, Beretta, Lorenzo, additional, Ballestar, Esteban, additional, McDonald, Fiona, additional, Pers, Jacques‐Olivier, additional, and Alarcón‐Riquelme, Marta E., additional

Published
2021
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46. Variable immunodeficiency study: Evaluation of two European cohorts within a variety of clinical phenotypes

Author

Guevara-Hoyer, Kissy, primary, Vasconcelos, Julia, additional, Marques, Laura, additional, Fernandes, Antonio Alexandre, additional, Ochoa-Grullón, Juliana, additional, Marinho, Antonio, additional, Sequeira, Teresa, additional, Gil, Celia, additional, Rodríguez de la Peña, Antonia, additional, Serrano García, Irene, additional, Recio, M. José, additional, Fernández-Arquero, Miguel, additional, Pérez de Diego, Rebeca, additional, Ramos, José Tomas, additional, Neves, Esmeralda, additional, and Sánchez-Ramón, Silvia, additional

Published
2020
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47. O31 Integrative analysis reveals a molecular stratification of systemic autoimmune diseases

Author

Barturen, Guillermo, primary, Babaei, Sepideh, additional, Català-Moll, Francesc, additional, Martínez-Bueno, Manuel, additional, Makowska, Zuzanna, additional, Martorell-Marugán, Jordi, additional, Carmona-Sáez, Pedro, additional, Toro-Domínguez, Daniel, additional, Carnero-Montoro, Elena, additional, Kerick, Martin, additional, Acosta-Herrera, Marialbert, additional, Lann, Lucas Le, additional, Jamin, Christophe, additional, Rodríguez-Ubreva, Javier, additional, García-Gómez, Antonio, additional, Kageyama, Jorge, additional, Buttgereit, Anne, additional, Hayat, Sikander, additional, Mueller, Joerg, additional, Lesche, Ralf, additional, Hernandez-Fuentes, Maria, additional, Juarez, Maria, additional, Rowley, Tania, additional, White, Ian, additional, Marañón, Concepción, additional, Anjos, Tania Gomes, additional, Varela, Nieves, additional, Aguilar-Quesada, Rocío, additional, Garrancho, Francisco Javier, additional, López-Berrio, Antonio, additional, Maresca, Manuel Rodriguez, additional, Navarro-Linares, Héctor, additional, Almeida, Isabel, additional, Azevedo, Nancy, additional, Brandão, Mariana, additional, Campar, Ana, additional, Faria, Raquel, additional, Farinha, Fátima, additional, Marinho, António, additional, Neves, Esmeralda, additional, Tavares, Ana, additional, Vasconcelos, Carlos, additional, Trombetta, Elena, additional, Montanelli, Gaia, additional, Vigone, Barbara, additional, Alvarez-Errico, Damiana, additional, Li, Tianlu, additional, Alonso, Ricardo Blanco, additional, Martínez, Alfonso Corrales, additional, Genre, Fernanda, additional, Mejías, Raquel López, additional, Gonzalez-Gay, Miguel A, additional, Remuzgo, Sara, additional, Garcia, Begoña Ubilla, additional, Cervera, Ricard, additional, Espinosa, Gerard, additional, Rodríguez-Pintó, Ignasi, additional, Langhe, Ellen De, additional, Cremer, Jonathan, additional, Lories, Rik, additional, Belz, Doreen, additional, Hunzelmann, Nicolas, additional, Baerlecken, Niklas, additional, Kniesch, Katja, additional, Witte, Torsten, additional, Lehner, Michaela, additional, Stummvoll, Georg, additional, Zauner, Michael, additional, Aguirre-Zamorano, Maria Angeles, additional, Barbarroja, Nuria, additional, Castro-Villegas, Maria Carmen, additional, Collantes-Estevez, Eduardo, additional, Ramon, Enrique de, additional, Quintero, Isabel Díaz, additional, Escudero-Contreras, Alejandro, additional, Roldán, María Concepción Fernández, additional, Gómez, Yolanda Jiménez, additional, Moleón, Inmaculada Jiménez, additional, Lopez-Pedrera, Rosario, additional, Ortega-Castro, Rafaela, additional, Ortego, Norberto, additional, Raya, Enrique, additional, Artusi, Carolina, additional, Gerosa, Maria, additional, Meroni, Pier Luigi, additional, Schioppo, Tommaso, additional, Groof, Aurélie De, additional, Ducreux, Julie, additional, Lauwerys, Bernard, additional, Maudoux, Anne-Lise, additional, Cornec, Divi, additional, Devauchelle-Pensec, Valérie, additional, Jousse-Joulin, Sandrine, additional, Jouve, Pierre-Emmanuel, additional, Rouvière, Bénédicte, additional, Saraux, Alain, additional, Simon, Quentin, additional, Alvarez, Montserrat, additional, Chizzolini, Carlo, additional, Dufour, Aleksandra, additional, Wynar, Donatienne, additional, Balog, Attila, additional, Bocskai, Márta, additional, Deák, Magdolna, additional, Dulic, Sonja, additional, Kádár, Gabriella, additional, Kovács, László, additional, Cheng, Qingyu, additional, Gerl, Velia, additional, Hiepe, Falk, additional, Khodadadi, Laleh, additional, Thiel, Silvia, additional, Rinaldis, Emanuele de, additional, Rao, Sambasiva, additional, Benschop, Robert J, additional, Chamberlain, Chris, additional, Dow, Ernst R, additional, Ioannou, Yiannis, additional, Laigle, Laurence, additional, Marovac, Jacqueline, additional, Wojcik, Jerome, additional, Renaudineau, Yves, additional, Borghi, Maria Orietta, additional, Frostegård, Johan, additional, Martín, Javier, additional, Beretta, Lorenzo, additional, Ballestar, Esteban, additional, McDonald, Fiona, additional, Pers, Jacques-Olivier, additional, and Alarcón-Riquelme, Marta E, additional

Published
2020
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48. Integrative Analysis Reveals a Molecular Stratification of Systemic Autoimmune Diseases

Author

Barturen, Guillermo, primary, Babaei, Sepideh, additional, Català-Moll, Francesc, additional, Martínez-Bueno, Manuel, additional, Makowska, Zuzanna, additional, Martorell-Marugán, Jordi, additional, Carmona-Sáez, Pedro, additional, Toro-Domínguez, Daniel, additional, Carnero-Montoro, Elena, additional, Teruel, María, additional, Kerick, Martin, additional, Acosta-Herrera, Marialbert, additional, Lann, Lucas Le, additional, Jamin, Christophe, additional, Rodríguez-Ubreva, Javier, additional, García-Gómez, Antonio, additional, Kageyama, Jorge, additional, Buttgereit, Anne, additional, Hayat, Sikander, additional, Mueller, Joerg, additional, Lesche, Ralf, additional, Hernandez-Fuentes, Maria, additional, Juarez, Maria, additional, Rowley, Tania, additional, White, Ian, additional, Marañón, Concepción, additional, Anjos, Tania Gomes, additional, Varela, Nieves, additional, Aguilar-Quesada, Rocío, additional, Garrancho, Francisco Javier, additional, López-Berrio, Antonio, additional, Maresca, Manuel Rodriguez, additional, Navarro-Linares, Héctor, additional, Almeida, Isabel, additional, Azevedo, Nancy, additional, Brandão, Mariana, additional, Campar, Ana, additional, Faria, Raquel, additional, Farinha, Fátima, additional, Marinho, António, additional, Neves, Esmeralda, additional, Tavares, Ana, additional, Vasconcelos, Carlos, additional, Trombetta, Elena, additional, Montanelli, Gaia, additional, Vigone, Barbara, additional, Alvarez-Errico, Damiana, additional, Li, Tianlu, additional, Alonso, Ricardo Blanco, additional, Martínez, Alfonso Corrales, additional, Genre, Fernanda, additional, López Mejías, Raquel, additional, Gonzalez-Gay, Miguel A., additional, Remuzgo, Sara, additional, Garcia, Begoña Ubilla, additional, Cervera, Ricard, additional, Espinosa, Gerard, additional, Rodríguez-Pintó, Ignasi, additional, De Langhe, Ellen, additional, Cremer, Jonathan, additional, Lories, Rik, additional, Belz, Doreen, additional, Hunzelmann, Nicolas, additional, Baerlecken, Niklas, additional, Kniesch, Katja, additional, Witte, Torsten, additional, Lehner, Michaela, additional, Stummvoll, Georg, additional, Zauner, Michael, additional, Aguirre-Zamorano, Maria Angeles, additional, Barbarroja, Nuria, additional, Castro-Villegas, Maria Carmen, additional, Collantes-Estevez, Eduardo, additional, de Ramon, Enrique, additional, Díaz Quintero, Isabel, additional, Escudero-Contreras, Alejandro, additional, Fernández Roldán, María Concepción, additional, Jiménez Gómez, Yolanda, additional, Jiménez Moleón, Inmaculada, additional, Lopez-Pedrera, Rosario, additional, Ortega-Castro, Rafaela, additional, Ortego, Norberto, additional, Raya, Enrique, additional, Artusi, Carolina, additional, Gerosa, Maria, additional, Meroni, Pier Luigi, additional, Schioppo, Tommaso, additional, De Groof, Aurélie, additional, Ducreux, Julie, additional, Lauwerys, Bernard, additional, Maudoux, Anne-Lise, additional, Cornec, Divi, additional, Devauchelle-Pensec, Valérie, additional, Jousse-Joulin, Sandrine, additional, Jouve, Pierre-Emmanuel, additional, Rouvière, Bénédicte, additional, Saraux, Alain, additional, Simon, Quentin, additional, Alvarez, Montserrat, additional, Chizzolini, Carlo, additional, Dufour, Aleksandra, additional, Wynar, Donatienne, additional, Balog, Attila, additional, Bocskai, Márta, additional, Deák, Magdolna, additional, Dulic, Sonja, additional, Kádár, Gabriella, additional, Kovács, László, additional, Cheng, Qingyu, additional, Gerl, Velia, additional, Hiepe, Falk, additional, Khodadadi, Laleh, additional, Thiel, Silvia, additional, de Rinaldis, Emanuele, additional, Rao, Sambasiva, additional, J.Benschop, Robert, additional, Chamberlain, Chris, additional, Dow, Ernst R., additional, Ioannou, Yiannis, additional, Laigle, Laurence, additional, Marovac, Jacqueline, additional, Wojcik, Jerome, additional, Renaudineau, Yves, additional, Borghi, Maria Orietta, additional, Frostegård, Johan, additional, Martín, Javier, additional, Beretta, Lorenzo, additional, Ballestar, Esteban, additional, McDonald, Fiona, additional, Pers, Jacques-Olivier, additional, and Alarcón-Riquelme, Marta E., additional

Published
2020
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49. Caracterização das infeções em doentes com Síndrome de deleção 22q11.2

Author

Oliveira, Manuel, Teixeira, Carla, Vasconcelos, Júlia, Neves, Esmeralda, Álvares, Sílvia, Guedes, Margarida, and Marques, Laura

Subjects
Imunodeficiência, infeções, Síndrome de deleção 22q11.2, 22q11.2 deletion syndrome, Immunodeficiency, infections
Abstract

Introdução: O Síndrome de deleção 22q11.2 (SD22q11.2) tem uma incidência de 1/2000 a 1/7000 nados-vivos. Caracteriza-se por um grau variável de imunodeficiência que predispõe a infeções, nomeadamente sinopulmonares. Material e métodos: Estudo retrospetivo de 12 doentes, todos apresentando a del22q11.2 de novo, incidindo na caracterização imunológica e no tipo e número de infeções documentadas. Resultados: No que respeita aos estudos imunológicos, um doente apresentava linfopenia T grave e linfopenia B com hipogamaglobulinemia associadas a Síndrome de Evans; dois doentes linfopenia T ligeira transitória; seis linfopenia T ligeira/ moderada persistente e três estudo imunológico normal. A incidência média de infeções foi 0.5/ano/doente (1.1/ano/doente abaixo dos três anos de idade). As mais documentadas foram otite média aguda, pneumonia e bronquiolite. Discussão: Encontrou-se um número baixo de infeções/ ano/doente e estas ocorreram maioritariamente abaixo dos três anos de idade. As infeções sino-pulmonares foram as mais documentadas e a evolução geralmente benigna. O caráter transitório idade-dependente das alterações imunológicas e a normal função dos linfócitos, mais do que o grau de linfopenia T, parecem contribuir para este facto., Background: The 22q11.2 deletion syndrome (SD22q11.2) has an incidence of 1/2000 to 1/7000 live births. It is characterized by a variable degree of immunodeficiency that predisposes to infections, especially sino-pulmonary. Material and Methods: A retrospective study of 12 patients with del22q11.2 de novo was performed, focusing on the immunological characteristics and the type and number of documented infections. Results: The immunological studies showed one patient had severe T lymphopenia T and B lymphopenia with hypogammaglobulinemia associated with Evans syndrome, two patients had transient mild T lymphopenia, six had mild to moderate persistent T lymphopenia and three presented a normal immunological study. The mean incidence of infections was 0,5/year/patient (1,1/year/patient under age three). The most frequent were acute otitis media, pneumonia and bronchiolitis. Discussion: There was a low number of infections/year/ patient, and these occurred mostly under the age of three years. The sino-pulmonary infections were the most documented and the evolution was generally benign. The transient and age-dependent nature of the immunological changes and the normal immune cell function, rather than the degree of T lymphopenia appear to contribute to this fact.

Published
2017
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50. IgM antibodies against malondialdehyde and phosphorylcholine in different systemic rheumatic diseases.

Author

Thiagarajan, Divya, Oparina, Nina, Lundström, Susanna, Zubarev, Roman, Sun, Jitong, The PRECISESADS Clinical Consortium, Beretta, Lorenzo, Vigone, Barbara, Pers, Jacques-Olivier, Saraux, Alain, Devauchelle-Pensec, Valérie, Cornec, Divi, Jousse-Joulin, Sandrine, Lauwerys, Bernard, Ducreux, Julie, Maudoux, Anne-Lise, Vasconcelos, Carlos, Tavares, Ana, Neves, Esmeralda, and Faria, Raquel

Subjects
IMMUNOGLOBULIN M, MALONDIALDEHYDE, RHEUMATISM diagnosis, RHEUMATISM treatment, IMMUNOGLOBULINS, FLOW cytometry
Abstract

IgM antibodies against phosphorylcholine (anti-PC) and malondialdehyde (anti-MDA) may have protective properties in cardiovascular and rheumatic diseases. We here compare these antibodies in systemic rheumatic conditions and study their properties. Anti-PC and anti-MDA was measured using ELISA in patients with SLE (374), RA (354), Mixed connective tissue disease (MCTD, 77), Systemic sclerosis (SSc, 331), Sjögren's syndrome (SjS, 324), primary antiphospholipid syndrome (PAPs, 65), undifferentiated connective tissue disease (UCTD, 118) and 515 matched healthy controls (HC). Cardiovascular score (CV) was broadly defined based on clinical disease symptoms. Anti-PC and anti-MDA peptide/protein characterization were compared using a proteomics de novo sequencing approach. anti-MDA and anti-PC were extracted from total IgM. The proportion of Treg cells was determined by flow cytometry. The maximal difference between cases and controls was shown for MCTD: significantly lower IgM Anti-PC but not anti-MDA among patients (median 49.3RU/ml vs 70.4 in healthy controls, p(t-test) = 0.0037). IgM low levels were more prevalent in MCTD, SLE, SjS, SSc and UCTD. IgM anti-PC variable region profiles were different from and more homologous than anti-MDA. Anti-PC but not anti-MDA were significantly negatively correlated with CV in the whole patient group. In contrast to IgM anti-PC, anti-MDA did not promote polarization of Tregs. Taken together, Anti-PC is decreased in MCTD and also in SLE, SjS and SSc but not in other studied diseases. Anti-PC may thus differentiate between these. In contrast, anti-MDA did not show these differences between diseases studied. Anti-PC level is negatively correlated with CV in the patient group cohort. In contrast to anti-PC, anti-MDA did not promote Treg polarization. These findings could have both diagnostic and therapeutic implications, one possibility being active or passive immunization with PC in some rheumatic conditions. [ABSTRACT FROM AUTHOR]

Published
2020
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