TY - JOUR AU - Endreffy, Ildikó AU - Bjørklund, Geir AU - Szerafin, László AU - Chirumbolo, Salvatore AU - Urbina, Mauricio A AU - Börcsökné Endreffy, Emőke TI - Plasma alpha-L-fucosidase activity in chronic inflammation and autoimmune disorders in a pediatric cohort of hospitalized patients JF - IMMUNOLOGIC RESEARCH J2 - IMMUNOL RES VL - 65 PY - 2017 IS - 5 SP - 1025 EP - 1030 PG - 6 SN - 0257-277X DO - 10.1007/s12026-017-8943-x UR - https://m2.mtmt.hu/api/publication/30593669 ID - 30593669 AB - Human α-fucosidase (EC 3.2.1.51) is an enzyme (hydrolase) of particular biological and medical interest, as the inherited deficiency in its activity leads to fucosidosis, a pathology belonging to severe glycoprotein lysosomal storage disorders. Although its importance has increased in latest years, data about its plasma level in children with inflammatory disorders are still lacking. In the present study, plasma activity of α-L-fucosidase-1 (FUCA-1) and its potential association with chronic inflammatory pathologies was evaluated in hospitalized individuals, both pediatric and adult ones. A number of 201 Hungarian hospitalized patients, 144 children (1-13 years) and 57 adults (31-88 years), were enrolled in the study and underwent plasma assay of FUCA-1 activity, following the normal routine analytical run in the hospital service. Regression and Pearson tests were evaluated to investigate the relationship between FUCA-1 plasma levels and inflammatory disorders diagnosed with subjects recruited in the study. No correlation of FUCA-1 activity was observed in the pediatric patients with immune (p = 0.9677) or metabolic (p = 0.6974) disorders, but a correlation was reported when comparing clusters of chronic inflammatory and autoimmune disease vs. controls (p < 0.05). Furthermore, a relationship was found between FUCA-1 activity in plasma and inflammatory disorders and autoimmunity both in adults and in the pediatric cohort of patients (Pearson test, p = 0.000148). Alterations in plasma levels of FUCA-1 were significantly associated with chronic inflammatory and autoimmune disorders, both in children and adults. The result of the present study should encourage further research on FUCA-1 as a marker of chronic inflammation and autoimmunity. LA - English DB - MTMT ER - TY - JOUR AU - Langefeld, Carl D AU - Ainsworth, Hannah C AU - Graham, Deborah S Cunninghame AU - Kelly, Jennifer A AU - Comeau, Mary E AU - Marion, Miranda C AU - Howard, Timothy D AU - Ramos, Paula S AU - Croker, Jennifer A AU - Morris, David L AU - Sandling, Johanna K AU - Almlof, Jonas Carlsson AU - Acevedo-Vasquez, Eduardo M AU - Alarcon, Graciela S AU - Babini, Alejandra M AU - Baca, Vicente AU - Bengtsson, Anders A AU - Berbotto, Guillermo A AU - Bijl, Marc AU - Brown, Elizabeth E AU - Brunner, Hermine I AU - Cardiel, Mario H AU - Catoggio, Luis AU - Cervera, Ricard AU - Cucho-Venegas, Jorge M AU - Dahlqvist, Solbritt Rantapaa AU - D'Alfonso, Sandra AU - Da, Silva Berta Martins AU - de la, Rua Figueroa Inigo AU - Doria, Andrea AU - Edberg, Jeffrey C AU - Börcsökné Endreffy, Emőke AU - Esquivel-Valerio, Jorge A AU - Fortin, Paul R AU - Freedman, Barry I AU - Frostegard, Johan AU - Garcia, Mercedes A AU - Garcia, de la Torre Ignacio AU - Gilkeson, Gary S AU - Gladman, Dafna D AU - Gunnarsson, Iva AU - Guthridge, Joel M AU - Huggins, Jennifer L AU - James, Judith A AU - Kallenberg, Cees G M AU - Kamen, Diane L AU - Karp, David R AU - Kaufman, Kenneth M AU - Kottyan, Leah C AU - Kovács, László AU - Laustrup, Helle AU - Lauwerys, Bernard R AU - Li, Quan-Zhen AU - Maradiaga-Cecena, Marco A AU - Martin, Javier AU - McCune, Joseph M AU - McWilliams, David R AU - Merrill, Joan T AU - Miranda, Pedro AU - Moctezuma, Jose F AU - Nath, Swapan K AU - Niewold, Timothy B AU - Orozco, Lorena AU - Ortego-Centeno, Norberto AU - Petri, Michelle AU - Pineau, Christian A AU - Pons-Estel, Bernardo A AU - Pope, Janet AU - Raj, Prithvi AU - Ramsey-Goldman, Rosalind AU - Reveille, John D AU - Russell, Laurie P AU - Sabio, Jose M AU - Aguilar-Salinas, Carlos A AU - Scherbarth, Hugo R AU - Scorza, Raffaella AU - Seldin, Michael F AU - Sjowall, Christopher AU - Svenungsson, Elisabet AU - Thompson, Susan D AU - Toloza, Sergio M A AU - Truedsson, Lennart AU - Tusie-Luna, Teresa AU - Vasconcelos, Carlos AU - Vila, Luis M AU - Wallace, Daniel J AU - Weisman, Michael H AU - Wither, Joan E AU - Bhangale, Tushar AU - Oksenberg, Jorge R AU - Rioux, John D AU - Gregersen, Peter K AU - Syvanen, Ann-Christine AU - Ronnblom, Lars AU - Criswell, Lindsey A AU - Jacob, Chaim O AU - Sivils, Kathy L AU - Tsao, Betty P AU - Schanberg, Laura E AU - Behrens, Timothy W AU - Silverman, Earl D AU - Alarcon-Riquelme, Marta E AU - Kimberly, Robert P AU - Harley, John B AU - Wakeland, Edward K AU - Graham, Robert R AU - Gaffney, Patrick M AU - Vyse, Timothy J TI - Transancestral mapping and genetic load in systemic lupus erythematosus JF - NATURE COMMUNICATIONS J2 - NAT COMMUN VL - 8 PY - 2017 PG - 18 SN - 2041-1723 DO - 10.1038/ncomms16021 UR - https://m2.mtmt.hu/api/publication/26751983 ID - 26751983 N1 - Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, NC 27101, United States Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC 27101, United States Divisions of Genetics and Molecular Medicine and Immunology, Infection and Inflammatory Diseases, King's College London, Guy's Hospital, London, SE1 9RT, United Kingdom Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, United States Center for Human Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC 27101, United States Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC 29425, United States Department of Medicine, Medical University of South Carolina, Charleston, SC 29425, United States Division of Clinical Immunology and Rheumatology, UAB School of Medicine, Birmingham, AB 35294, United States Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, 752 36, Sweden Departamento de Reumatologý, Hospital G. Almenara y Facultad de Medicina, Universidad Nacional Mayor de San Marcos, Lima, 15081, Peru Hospital Italiano de Córdoba, Córdoba, X5004BAL, Argentina Hospital de Pediatrý, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico City, 06720, Mexico Department of Clinical Sciences, Rheumatology, Lund University, Lund, 22362, Sweden Hospital Eva Perón, Granadero Baigorria, S2152 EDD, Argentina Department of Internal Medicine and Rheumatology, Martini Hospital, Van Swietenplein 1, Groningen, 9728, NT, Netherlands Division of Rheumatology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH 45229, United States Centro de Investigación Clínica de Morelia, Morelia, Michoacán58070, Mexico Hospital Italiano de Buenos Aires, 1181, Buenos AiresC1181ACH, Argentina Department of Autoimmune Diseases, Hospital Clínic, University of Barcelona, Barcelona, Catalonia, 08007, Spain Department of Public Health and Clinical Medicine, Division of Rheumatology, Umeå University, Umeå, 901 87, Sweden Department of Health Sciences, Institute of Research in Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Novara, 28100, Italy Unidade Multidisciplinar em Investigaçǒ Biomédica, Instituto de Ciências Biomédicas de Abel Salazar, Universidade do Porto, Porto, 4099-003, Portugal Department of Rheumatology, Hospital Universitario de Gran Canaria Dr Negrýn, Las Palmas de Gran Canaria, 35010, Spain Division of Rheumatology, Department of Medicine (DIMED), University of Padua, Padua, 35122, Italy Department of Pediatrics, Child Health Center, Albert Szent-Györgyi Medical Center, Faculty of Medicine, University of Szeged, Szeged, H-6720, Hungary Hospital Universitario 'Dr José Eleuterio González', Universidad Autonoma de Nuevo León, Monterrey, 64020, Mexico CHU de Québec Université Laval, Québec, G1R 2JG, Canada Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC 27101, United States Institute of Environmental Medicine, Unit of Immunology and Chronic diseases, Karolinska Institute, Stockholm, 171 77, Sweden Division of Rheumatology, Hospital Interzonal General de Agudos General San Martýn, La Plata, 1900, Argentina University of Guadalajara, Departamento de Fisiologýá, Guadalajara, Jalisco, 44100, Mexico Centre for Prognosis Studies in The Rheumatic Diseases, Krembil Research Institute, Toronto Western Hospital, Toronto, ON M5T 2S8, Canada Unit of Rheumatology, Department of Medicine, Solna Karolinska Institute, Karolinska University Hospital, Stockholm, SE-171 76, Sweden Departments of Medicine and Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, United States Department of Rheumatology and Clinical Immunology, University Medical Center Groningen, University of Groningen, Groningen, 9713 GZ, Netherlands Department of Immunology, University of Texas SouthWestern Medical Center, Dallas, TX 75235, United States Department of Pediatrics, Center for Autoimmune Genomics and Etiology (CAGE), Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, United States Department of Rheumatology, Albert Szent-Györgyi Medical Centre, University of Szeged, Szeged, H-6720, Hungary Department of Rheumatology, Odense University Hospital, Odense, 5000, Denmark Rheumatology, Cliniques Universitaires Saint-Luc, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Louvain-la-Neuve, 1348, Belgium Hospital General de Culiacán, Sinaloa, 80220, Mexico Instituto de Parasitologí y Biomedicina López Neyra, CSIC, Granada, 18100, Spain University of Michigan Medical Center, Ann Arbor, MI 48103, United States Centro de Estudios Reumatológicos, Santiago de Chile, Santiago, 7500000, Chile Departamento de Reumatologý, Hospital General de México, Mexico D.F., 06726, Mexico Department of Rheumatology, Mayo Clinic, Rochester, MO 94158, United States Instituto Nacional de Medicina Genómica (INMEGEN), México City, 14610, Mexico Unidad de Enfermedades Autoimmunes Sistémicas, UGC Medicina Interna, Hospital Universitario San Cecilio, Granada, 18007, Spain Division of Rheumatology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21218, United States Rheumatology Division, McGill University, Montreal, QC H3A 0G4, Canada Department of Rheumatology, Sanatorio Parque, Rosario, S2000, Argentina University of Western Ontario, London, ON M5T 2S8, Canada Division of Rheumatology, Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, United States University of Texas Health Science Center at Houston (UTHealth) Medical School, Houston, TX 77030, United States Hospital Universitario Virgen de las Nieves, Granada, 18014, Spain Instituto Nacional de Ciencias Médicas y Nutrición, Department of Endocrinology and Metabolism, Vasco de Quiroga 15, Mexico City, 14080, Mexico Unidad Reumatologí y Enfermedades, Buenos Aires, B7600, Argentina Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca'Granda Ospedale Ma Repiore Policlinico, University of Milan, Milan, 20122, Italy Department of Biochemistry and Molecular Medicine, UC Davis School of Medicine, Sacramento, CA 95616, United States Rheumatology Division of Neuro and Inflammation Sciences, Department of Clinical and Experimental Medicine, Linköping University, Linköping, 581 83, Sweden Ministry of Health, San Fernando del Valle de Catamarca, Catamarca, K4700, Argentina Department of Laboratory Medicine, Section of Microbiology, Immunology and Glycobiology, Lund University, Lund, 221 00, Sweden Unidad de Biologí Molecular y Medicina, Genómica Instituto de Investigaciones Biomédicas/UNAM, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, 14080, Mexico Hospital Santo Antonio, Universidade do Porto, Porto, 4099-003, Portugal University of Puerto, Rico School of Medicine, San Juan, 00936, Puerto Rico Department of Medicine, Cedars Sinai Medical Center, Los Angeles, CA 90048, United States Human Genetics, Genentech Inc., South San Francisco, CA 94080, United States Department of Neurology, Institute of Human Genetics, University of California at San Francisco, San Francisco, CA 94158, United States Université de Montreál, Montreal Heart Institute, Montreal, QC H1T 1C8, Canada Center for Genomics and Human Genetics, Feinstein Institute for Medical Research, Manhasset, NY 11030, United States Department of Medical Sciences, Rheumatology, Uppsala University752 36, Sweden Rosalind Russell/Ephraim P Engleman Rheumatology Research Center, Division of Rheumatology, UCSF School of Medicine, San Francisco, CA 94158, United States Keck School of Medicine of USC, Los Angeles, CA 90033, United States Department of Pediatrics, Duke University, Durham, NC 27708, United States Department of Pediatrics, Institute of Medical Sciences, Hospital for Sick Children, Hospital for Sick Children Research Institute, University of TorontoON M5G 1X8, Canada Pfizer-University of Granada-Junta de Andalucý, Centre for Genomics and Oncological Research (GENYO), Granada, 18007, Spain Unit of Institute of Environmental Medicine, Karolinska Institute, Solnavägen, 171 77, Sweden Cited By :134 Export Date: 22 June 2021 Correspondence Address: Langefeld, C.D.; Center for Public Health Genomics, United States; email: clangefe@wakehealth.edu Chemicals/CAS: gamma interferon, 82115-62-6; growth factor receptor bound protein 2, 148266-08-4; interleukin 2, 85898-30-2; interleukin 21, 251100-02-4, 510787-82-3, 542817-56-1; protein kinase Lyn, 140208-17-9; HLA Antigens LA - English DB - MTMT ER - TY - JOUR AU - Zhao, J AU - Giles, BM AU - Taylor, RL AU - Yette, GA AU - Lough, KM AU - Ng, HL AU - Abraham, LJ AU - Wu, H AU - Kelly, JA AU - Glenn, SB AU - Adler, AJ AU - Williams, AH AU - Comeau, ME AU - Ziegler, JT AU - Marion, M AU - Alarcón-Riquelme, ME AU - Alarcón, GS AU - Anaya, JM AU - Bae, SC AU - Kim, D AU - Lee, HS AU - Criswell, LA AU - Freedman, BI AU - Gilkeson, GS AU - Guthridge, JM AU - Jacob, CO AU - James, JA AU - Kamen, DL AU - Merrill, JT AU - Sivils, KM AU - Niewold, TB AU - Petri, MA AU - Ramsey-Goldman, R AU - Reveille, JD AU - Scofield, RH AU - Stevens, AM AU - Vilá, LM AU - Vyse, TJ AU - Kaufman, KM AU - Harley, JB AU - Langefeld, CD AU - Gaffney, PM AU - Brown, EE AU - Edberg, JC AU - Kimberly, RP AU - Ulgiati, D AU - Tsao, BP AU - Boackle, SA ED - Frostegård, J / Collaborator ED - Truedsson, L / Collaborator ED - De Ramón, E / Collaborator ED - Sabio, JM / Collaborator ED - González-Escribano, MF / Collaborator ED - Martin, J / Collaborator ED - Ortego-Centeno, N / Collaborator ED - Callejas, JL / Collaborator ED - Sánchez-Román, J / Collaborator ED - D'Alfonso, S / Collaborator ED - Migliarese, S / Collaborator ED - Sebastiani, G-D / Collaborator ED - Galeazzi, M / Collaborator ED - Witte, T / Collaborator ED - Lauwerys, BR / Collaborator ED - Börcsökné Endreffy, Emőke / Collaborator ED - Kovács, László / Collaborator ED - Vasconcelos, C / Collaborator ED - Da, Silva BM / Collaborator ED - Scherbarth, R / Collaborator ED - Marino, PC / Collaborator ED - Motta, EL / Collaborator ED - Gamron, S / Collaborator ED - Drenkard, C / Collaborator ED - Menso, E / Collaborator ED - Allievi, A / Collaborator ED - Tate, GA / Collaborator ED - Presas, JL / Collaborator ED - Palatnik, SA / Collaborator ED - Abdala, M / Collaborator ED - Bearzotti, M / Collaborator ED - Alvarellos, A / Collaborator ED - Caeiro, F / Collaborator ED - Bertoli, A / Collaborator ED - Paira, S / Collaborator ED - Roverano, S / Collaborator ED - Graf, CE / Collaborator ED - Bertero, E / Collaborator ED - Caprarulo, C / Collaborator ED - Buchanan, G / Collaborator ED - Guillerón, C / Collaborator ED - Grimaudo, S / Collaborator ED - Manni, J / Collaborator ED - Catoggio, LJ / Collaborator ED - Soriano, ER / Collaborator ED - Santos, CD / Collaborator ED - Prigione, C / Collaborator ED - Ramos, FA / Collaborator ED - Navarro, SM / Collaborator ED - Berbotto, GA / Collaborator ED - Jorfen, M / Collaborator ED - Romero, EJ / Collaborator ED - Garcia, MA / Collaborator ED - Marcos, JC / Collaborator ED - Marcos, AI / Collaborator ED - Perandones, CE / Collaborator ED - Eimon, A / Collaborator ED - Parque, S / Collaborator ED - Battagliotti, CG / Collaborator ED - Acevedo, E / Collaborator ED - Cucho, M / Collaborator ED - De La Torre, IG / Collaborator ED - Ríos, MC / Collaborator ED - Moctezuma, JF / Collaborator ED - Ceceña, MM / Collaborator TI - Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA JF - ANNALS OF THE RHEUMATIC DISEASES J2 - ANN RHEUM DIS VL - 75 PY - 2016 IS - 1 SP - 242 EP - 252 PG - 11 SN - 0003-4967 DO - 10.1136/annrheumdis-2014-205584 UR - https://m2.mtmt.hu/api/publication/3119513 ID - 3119513 AB - Objectives Systemic lupus erythematosus (SLE; OMIM 152700) is characterised by the production of antibodies to nuclear antigens. We previously identified variants in complement receptor 2 (CR2/CD21) that were associated with decreased risk of SLE. This study aimed to identify the causal variant for this association. Methods Genotyped and imputed genetic variants spanning CR2 were assessed for association with SLE in 15 750 case-control subjects from four ancestral groups. Allele-specific functional effects of associated variants were determined using quantitative real-time PCR, quantitative flow cytometry, electrophoretic mobility shift assay (EMSA) and chromatin immunoprecipitation (ChIP)-PCR. Results The strongest association signal was detected at rs1876453 in intron 1 of CR2 (pmeta=4.2×10-4, OR 0.85), specifically when subjects were stratified based on the presence of dsDNA autoantibodies (case-control pmeta=7.6×10-7, OR 0.71; case-only pmeta=1.9×10-4, OR 0.75). Although allele-specific effects on B cell CR2 mRNA or protein levels were not identified, levels of complement receptor 1 (CR1/CD35) mRNA and protein were significantly higher on B cells of subjects harbouring the minor allele (p=0.0248 and p=0.0006, respectively). The minor allele altered the formation of several DNA protein complexes by EMSA, including one containing CCCTC-binding factor (CTCF), an effect that was confirmed by ChIP-PCR. Conclusions These data suggest that rs1876453 in CR2 has long-range effects on gene regulation that decrease susceptibility to lupus. Since the minor allele at rs1876453 is preferentially associated with reduced risk of the highly specific dsDNA autoantibodies that are present in preclinical, active and severe lupus, understanding its mechanisms will have important therapeutic implications. LA - English DB - MTMT ER - TY - JOUR AU - Endreffy, I AU - Bjørklund, G AU - Dicső, F AU - Urbina, MA AU - Börcsökné Endreffy, Emőke TI - Acid glycosaminoglycan (aGAG) excretion is increased in children with autism spectrum disorder, and it can be controlled by diet JF - METABOLIC BRAIN DISEASE J2 - METAB BRAIN DIS VL - 31 PY - 2016 IS - 2 SP - 273 EP - 278 PG - 6 SN - 0885-7490 DO - 10.1007/s11011-015-9745-2 UR - https://m2.mtmt.hu/api/publication/3117951 ID - 3117951 AB - Autism research continues to receive considerable attention as the options for successful management are limited. The understanding of the autism spectrum disorder (ASD) etiology has now progressed to encompass genetic, epigenetic, neurological, hormonal, and environmental factors that affect outcomes for patients with ASD. Glycosaminoglycans (GAGs) are a family of linear, sulfated polysaccharides that are associated with central nervous system (CNS) development, maintenance, and disorders. Proteoglycans (PG) regulate diverse functions in the central nervous system. Heparan sulfate (HS) and chondroitin sulfate (CS) are two major GAGs present in the PGs of the CNS. As neuroscience advances, biochemical treatments to correct brain chemistry become better defined. Nutrient therapy can be very potent and has minimal to no side effects, since no molecules foreign to the body are needed. Given GAGs are involved in several neurological functions, and that its level can be somewhat modulated by the diet, the present study aimed to evaluate the role of GAGs levels in ASD symptoms. Both tGAG and its different fractions were evaluated in the urine of ASD and healthy control childrens. As levels differed between groups, a second trial was conduted evaluating if diet could reduce tGAG levels and if this in turn decrease ASD symptoms. The present study found that tGAG concentration was significantly higher in the urine of children with ASD compared to healthy control children and this was also evident in all GAG fractions. Within groups (controls and ASD), no gender differences in GAG excretion were found. The use of a 90 days elimination diet (casein-free, special carbohydrates, multivitamin/mineral supplement), had major effects in reducing urinary tGAG excretion in children with ASD. © 2015, Springer Science+Business Media New York. LA - English DB - MTMT ER - TY - JOUR AU - Kovács, Gábor AU - Kalmár, Tibor AU - Börcsökné Endreffy, Emőke AU - Ondrik, Zoltán AU - Iványi, Béla AU - Rikker, C AU - Haszon, Ibolya AU - Túri, Sándor AU - Sinko, M AU - Bereczki, Csaba AU - Maróti, Zoltán TI - Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders JF - PLOS ONE J2 - PLOS ONE VL - 11 PY - 2016 IS - 3 PG - 14 SN - 1932-6203 DO - 10.1371/journal.pone.0149241 UR - https://m2.mtmt.hu/api/publication/3049694 ID - 3049694 AB - Alport syndrome (AS) is an inherited type IV collagen nephropathies characterized by microscopic hematuria during early childhood, the development of proteinuria and progression to end-stage renal disease. Since choosing the right therapy, even before the onset of proteinuria, can delay the onset of end-stage renal failure and improve life expectancy, the earliest possible differential diagnosis is desired. Practically, this means the identification of mutation(s) in COL4A3-A4-A5 genes. We used an efficient, next generation sequencing based workflow for simultaneous analysis of all three COL4A genes in three individuals and fourteen families involved by AS or showing different level of Alport-related symptoms. We successfully identified mutations in all investigated cases, including 14 unpublished mutations in our Hungarian cohort. We present an easy to use unified clinical/diagnostic terminology and workflow not only for X-linked but for autosomal AS, but also for Alport-related diseases. In families where a diagnosis has been established by molecular genetic analysis, the renal biopsy may be rendered unnecessary. LA - English DB - MTMT ER - TY - JOUR AU - Zhao, J AU - Wu, H AU - Langefeld, CD AU - Kaufman, KM AU - Kelly, JA AU - Bae, S-C AU - Alarcón-Riquelme, ME AU - Alarcón, GS AU - Anaya, J-M AU - Criswell, LA AU - Freedman, BI AU - Kamen, DL AU - Gilkeson, GS AU - Jacob, CO AU - James, JA AU - Merrill, JT AU - Gaffney, PM AU - Sivils, KM AU - Niewold, TB AU - Petri, MA AU - Song, ST AU - Jeong, H-J AU - Ramsey-Goldman, R AU - Reveille, JD AU - Hal, Scofield R AU - Stevens, AM AU - Boackle, SA AU - Vilá, LM AU - Chang, D-M AU - Song, YW AU - Vyse, TJ AU - Harley, JB AU - Brown, EE AU - Edberg, JC AU - Kimberly, RP AU - Hahn, BH AU - Grossman, JM AU - Tsao, BP AU - La Cava, A AU - BIOLUPUS, and GENLES networks ED - Frostegård, J / Collaborator ED - Truedsson, L / Collaborator ED - de Ramón, E / Collaborator ED - Sabio, JM / Collaborator ED - González-Escribano, MF / Collaborator ED - Martin, J / Collaborator ED - Ortego-Centeno, N / Collaborator ED - Callejas, JL / Collaborator ED - Sánchez-Román, J / Collaborator ED - D'Alfonso, S / Collaborator ED - Migliarese, S / Collaborator ED - Sebastiani, G-D / Collaborator ED - Galeazzi, M / Collaborator ED - Witte, T / Collaborator ED - Lauwerys, BR / Collaborator ED - Börcsökné Endreffy, Emőke / Collaborator ED - Kovács, László / Collaborator ED - Vasconcelos, C / Collaborator ED - da Silva, BM / Collaborator ED - Scherbarth, HR / Collaborator ED - Marino, PC / Collaborator ED - Motta, EL / Collaborator ED - Gamron, S / Collaborator ED - Drenkard, C / Collaborator ED - Menso, E / Collaborator ED - Allievi, A / Collaborator ED - Tate, GA / Collaborator ED - Presas, JL / Collaborator ED - Palatnik, SA / Collaborator ED - Abdala, M / Collaborator ED - Bearzotti, M / Collaborator ED - Alvarellos, A / Collaborator ED - Caeiro, F / Collaborator ED - Bertoli, A / Collaborator ED - Paira, S / Collaborator ED - Roverano, S / Collaborator ED - Graf, CE / Collaborator ED - Bertero, E / Collaborator ED - Caprarulo, C / Collaborator ED - Buchanan, G / Collaborator ED - Guillerón, C / Collaborator ED - Grimaudo, S / Collaborator ED - Manni, J / Collaborator ED - Catoggio, LJ / Collaborator ED - Soriano, ER / Collaborator ED - Santos, CD / Collaborator ED - Prigione, C / Collaborator ED - Ramos, FA / Collaborator ED - Navarro, SM / Collaborator ED - Berbotto, GA / Collaborator ED - Jorfen, M / Collaborator ED - Romero, EJ / Collaborator ED - Garcia, MA / Collaborator ED - Marcos, JC / Collaborator ED - Marcos, AI / Collaborator ED - Perandones, CE / Collaborator ED - Eimon, A / Collaborator ED - Parque, S / Collaborator ED - Battagliotti, CG / Collaborator ED - Acevedo, E / Collaborator ED - Cucho, M / Collaborator ED - de la, Torre IG / Collaborator ED - Ríos, MC / Collaborator ED - Moctezuma, F / Collaborator ED - Maradiaga, Ceceña M / Collaborator TI - Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus JF - CLINICAL IMMUNOLOGY J2 - CLIN IMMUNOL VL - 161 PY - 2015 IS - 2 SP - 157 EP - 162 PG - 6 SN - 1521-6616 DO - 10.1016/j.clim.2015.09.007 UR - https://m2.mtmt.hu/api/publication/3119532 ID - 3119532 AB - Leptin is abnormally elevated in the plasma of patients with systemic lupus erythematosus (SLE), where it is thought to promote and/or sustain pro-inflammatory responses. Whether this association could reflect an increased genetic susceptibility to develop SLE is not known, and studies of genetic associations with leptin-related polymorphisms in SLE patients have been so far inconclusive. Here we genotyped DNA samples from 15,706 SLE patients and healthy matched controls from four different ancestral groups, to correlate polymorphisms of genes of the leptin pathway to risk for SLE. It was found that although several SNPs showed weak associations, those associations did not remain significant after correction for multiple testing. These data do not support associations between defined leptin-related polymorphisms and increased susceptibility to develop SLE. © 2015 Elsevier Inc. LA - English DB - MTMT ER - TY - CHAP AU - Börcsökné Endreffy, Emőke AU - Ilyés, István AU - Oláh, Éva AU - Paragh, György ED - Oláh, Éva TI - Multifaktoriális öröklődésű kórképek T2 - Klinikai genetika PB - Medicina Könyvkiadó CY - Budapest SN - 9789632265407 PY - 2015 SP - 321 EP - 351 PG - 31 UR - https://m2.mtmt.hu/api/publication/2965905 ID - 2965905 LA - Hungarian DB - MTMT ER - TY - JOUR AU - Oparina, NY AU - Delgado-Vega, AM AU - Martinez-Bueno, M AU - Magro-Checa, C AU - Fernandez, C AU - Castro, RO AU - Pons-Estel, BA AU - D'Alfonso, S AU - Sebastiani, GD AU - Witte, T AU - Lauwerys, BR AU - Börcsökné Endreffy, Emőke AU - Kovács, László AU - Escudero, A AU - Lopez-Pedrera, C AU - Vasconcelos, C AU - da Silva, BM AU - Frostegard, J AU - Truedsson, L AU - Martin, J AU - Raya, E AU - Ortego-Centeno, N AU - de Los, Angeles Aguirre M AU - de Ramon, Garrido E AU - Palma, MJ AU - Alarcon-Riquelme, ME AU - Kozyrev, SV TI - PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6 JF - ANNALS OF THE RHEUMATIC DISEASES J2 - ANN RHEUM DIS VL - 74 PY - 2015 IS - 3 PG - 8 SN - 0003-4967 DO - 10.1136/annrheumdis-2013-204909 UR - https://m2.mtmt.hu/api/publication/2886833 ID - 2886833 N1 - Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Box 597, Uppsala, SE-751 24, Sweden Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden Centro de Genómica e Investigación Oncológica (GENYO)., Pfizer-Universidad de Granada, Junta de Andalucía, PTS, Granada, Spain Department of Rheumatology, Hospital Universitario San Cecilio, Granada, Spain Unidad de Enfermedades Autoimmunes Sistémicas, UGC Medicina Interna, Hospital Universitario San Cecilio, Granada, Spain Servicio de Reumatologia, Hospital Universitario Reina Sofía, Instituto Maimónides de Investigación Biomédica IMIBIC, Córdoba, Spain Department of Rheumatology, Sanatorio Parque, Rosario, Argentina Department of Health Sciences, IRCAD, University of Eastern Piedmont, Novara, Italy Unità Operativa Complessa Reumatología, Azienda Ospedaliera San Camillo-Forlanini, Roma, Italy Medical School, Hannover, Germany Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Bruxells, Belgium Department of Pediatrics and Health Center, University of Szeged, Szeged, Hungary Department of Rheumatology, Albert Szent-Györgyi Clinical Centre, University of Szeged, Szeged, Hungary Centro Hospitalar Do Porto, Hospital Santo Antonio, UMIB/ICBAS, Porto, Portugal IMM, Unit of Immunology and Chronic Disease, Karolinska Institutet, Stockholm, Sweden Department of Laboratory Medicine, Section of M.I.G., Lund University, Lund, Sweden Instituto de Biomedicina y Parasitología López Neyra, CSIC, Armilla, Spain Department of Medicine, Hospital Carlos Haya, Málaga, Spain Department of Internal Medicine, Hospital Universitario Virgen Del Rocío, Seville, Spain Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, United States Cited By :10 Export Date: 19 September 2019 CODEN: ARDIA Correspondence Address: Kozyrev, S.V.; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Box 597, Sweden; email: sergey.kozyrev@imbim.uu.se Molecular Sequence Numbers: GENBANK: KF774202:KF774204; Chemicals/CAS: acylglycerol lipase, 9040-75-9; protein serine threonine kinase; ABHD6 protein, human; Intracellular Signaling Peptides and Proteins; Monoacylglycerol Lipases; Nerve Tissue Proteins; Protein-Serine-Threonine Kinases; PXK protein, human; RNA, Messenger Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Box 597, Uppsala, SE-751 24, Sweden Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden Centro de Genómica e Investigación Oncológica (GENYO)., Pfizer-Universidad de Granada, Junta de Andalucía, PTS, Granada, Spain Department of Rheumatology, Hospital Universitario San Cecilio, Granada, Spain Unidad de Enfermedades Autoimmunes Sistémicas, UGC Medicina Interna, Hospital Universitario San Cecilio, Granada, Spain Servicio de Reumatologia, Hospital Universitario Reina Sofía, Instituto Maimónides de Investigación Biomédica IMIBIC, Córdoba, Spain Department of Rheumatology, Sanatorio Parque, Rosario, Argentina Department of Health Sciences, IRCAD, University of Eastern Piedmont, Novara, Italy Unità Operativa Complessa Reumatología, Azienda Ospedaliera San Camillo-Forlanini, Roma, Italy Medical School, Hannover, Germany Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Bruxells, Belgium Department of Pediatrics and Health Center, University of Szeged, Szeged, Hungary Department of Rheumatology, Albert Szent-Györgyi Clinical Centre, University of Szeged, Szeged, Hungary Centro Hospitalar Do Porto, Hospital Santo Antonio, UMIB/ICBAS, Porto, Portugal IMM, Unit of Immunology and Chronic Disease, Karolinska Institutet, Stockholm, Sweden Department of Laboratory Medicine, Section of M.I.G., Lund University, Lund, Sweden Instituto de Biomedicina y Parasitología López Neyra, CSIC, Armilla, Spain Department of Medicine, Hospital Carlos Haya, Málaga, Spain Department of Internal Medicine, Hospital Universitario Virgen Del Rocío, Seville, Spain Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, United States Cited By :11 Export Date: 2 December 2019 CODEN: ARDIA Correspondence Address: Kozyrev, S.V.; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Box 597, Sweden; email: sergey.kozyrev@imbim.uu.se Molecular Sequence Numbers: GENBANK: KF774202:KF774204; Chemicals/CAS: acylglycerol lipase, 9040-75-9; protein serine threonine kinase; ABHD6 protein, human; Intracellular Signaling Peptides and Proteins; Monoacylglycerol Lipases; Nerve Tissue Proteins; Protein-Serine-Threonine Kinases; PXK protein, human; RNA, Messenger AB - OBJECTIVES: To perform fine mapping of the PXK locus associated with systemic lupus erythematosus (SLE) and study functional effects that lead to susceptibility to the disease. METHODS: Linkage disequilibrium (LD) mapping was conducted by using 1251 SNPs (single nucleotide polymorphism) covering a 862 kb genomic region on 3p14.3 comprising the PXK locus in 1467 SLE patients and 2377 controls of European origin. Tag SNPs and genotypes imputed with IMPUTE2 were tested for association by using SNPTEST and PLINK. The expression QTLs data included three independent datasets for lymphoblastoid cells of European donors: HapMap3, MuTHER and the cross-platform eQTL catalogue. Correlation analysis of eQTLs was performed using Vassarstats. Alternative splicing for the PXK gene was analysed on mRNA from PBMCs. RESULTS: Fine mapping revealed long-range LD (>200 kb) extended over the ABHD6, RPP14, PXK, and PDHB genes on 3p14.3. The highly correlated variants tagged an SLE-associated haplotype that was less frequent in the patients compared with the controls (OR=0.89, p=0.00684). A robust correlation between the association with SLE and enhanced expression of ABHD6 gene was revealed, while neither expression, nor splicing alterations associated with SLE susceptibility were detected for PXK. The SNP allele frequencies as well as eQTL pattern analysed in the CEU and CHB HapMap3 populations indicate that the SLE association and the effect on ABHD6 expression are specific to Europeans. CONCLUSIONS: These results confirm the genetic association of the locus 3p14.3 with SLE in Europeans and point to the ABHD6 and not PXK, as the major susceptibility gene in the region. We suggest a pathogenic mechanism mediated by the upregulation of ABHD6 in individuals carrying the SLE-risk variants. LA - English DB - MTMT ER - TY - JOUR AU - Gábor, Krisztina AU - Schermann, G AU - Lautner-Csorba, Orsolya AU - Rárosi, Ferenc AU - Erdélyi, Dániel AU - Börcsökné Endreffy, Emőke AU - Berek, K AU - Bartyik, Katalin AU - Bereczki, Csaba AU - Szalai, Csaba AU - Semsei F, Ágnes TI - Impact of single nucleotide polymorphisms of cytarabine metabolic genes on drug toxicity in childhood acute lymphoblastic leukemia JF - PEDIATRIC BLOOD & CANCER J2 - PEDIATR BLOOD CANCER VL - 62 PY - 2015 IS - 4 SP - 622 EP - 628 PG - 7 SN - 1545-5009 DO - 10.1002/pbc.25379 UR - https://m2.mtmt.hu/api/publication/2807591 ID - 2807591 N1 - Department of Pediatrics and Pediatric Health Care Center, Faculty of Medicine, University of Szeged, Hungary Department of Genetics, Cell- and Immunobiology, Semmelweis University, Hungary Department of Medical Physics and Informatics, Faculty of Medicine, University of Szeged, Hungary Second Department of Pediatrics, Semmelweis University, Hungary Second Department of Medicine and Cardiology Centre, Faculty of Medicine, University of Szeged, Hungary Heim Pal Children Hospital, Budapest, Hungary Cited By :9 Export Date: 29 August 2021 CODEN: PBCEA Correspondence Address: Semsei, A.F.; Department of Genetics, Celland Immunobiology, Semmelweis University, 1089 Nagyvárad tér 46em, Hungary AB - BACKGROUND: Cytarabine (cytosine arabinoside, ara-C) is a chemotherapeutical agent used in the treatment of pediatric acute lymphoblastic leukemia (ALL). Adverse drug reactions, such as interpatient variability in sensitivity to ara-C, are considerable and may cause difficulties during chemotherapy. Single nucleotide polymorphisms (SNPs) can play a significant role in modifying nucleoside-drug pharmacokinetics and pharmacodynamics and thus the development of adverse effects. Our aim was to determine whether polymorphisms in genes encoding transporters and enzymes responsible for the metabolism of ara-C are associated with toxicity and clinical outcome in a patient population with childhood ALL. PROCEDURE: We studied 8 SNPs in the CDA, DCK, DCTD, SLC28A3, and SLC29A1 genes in 144 patients with childhood acute lymphoblastic leukemia treated according to ALLIC BFM 1990, 1995 and 2002 protocols. RESULTS: DCK rs12648166 and DCK rs4694362 SNPs were associated with hematologic toxicity (OR = 2.63, CI 95% = 1.37-5.04, P = 0.0036 and OR = 2.53, CI 95% = 1.34-4.80, P = 0.0044, respectively). CONCLUSIONS: Our results indicate that DCK polymorphisms might be important genetic risk factors for hematologic toxicity during ALL treatment with ara-C. Individualized chemotherapy based on genetic profiling may help to optimize ara-C dosing, leading to improvements in clinical outcome and reduced toxicity. Pediatr Blood Cancer 2014;9999:1-7(c) 2015 Wiley Periodicals, Inc. LA - English DB - MTMT ER - TY - JOUR AU - Alonso-Perez, Elisa AU - Suarez-Gestal, Marian AU - Calaza, Manuel AU - J Blanco, Francisco AU - Suarez, Ana AU - Jose Santos, Maria AU - Papasteriades, Chryssa AU - Carreira, Patricia AU - Pullmann, Rudolf AU - Ordi-Ros, Josep AU - Marchini, Maurizio AU - N Skopouli, Fotini AU - Bijl, Marc AU - Barrizone, Nadia AU - Domenico Sebastiani, Gian AU - Migliaresi, Sergio AU - Witte, Torsten AU - R Lauwerys, Bernard AU - Kovács, Attila AU - Ruzickova, Sarka AU - J Gomez-Reino, Juan AU - Gonzalez, Antonio ED - Liz, Myriam / Collaborator ED - Kappou-Rigatou, Iris / Collaborator ED - Beretta, Lorenzo / Collaborator ED - Balada, Eva / Collaborator ED - G Kallenberg, Cees / Collaborator ED - Vinagre, Filipe / Collaborator ED - Pullmann, Rudolf / Collaborator ED - Mavromati, Maria / Collaborator ED - Gutierrez, Carmen / Collaborator ED - Rego, Ignacio / Collaborator ED - D’Alfonso, Sandra / Collaborator ED - E Schmidt, Reinhold / Collaborator ED - Börcsökné Endreffy, Emőke / Collaborator ED - Dostal, Ctibor / Collaborator TI - Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus JF - ARTHRITIS RESEARCH & THERAPY J2 - ARTHRITIS RES THER VL - 16 PY - 2014 IS - 3 SN - 1478-6354 DO - 10.1186/ar4585 UR - https://m2.mtmt.hu/api/publication/2715723 ID - 2715723 N1 - Megjegyzés-25633470 Group Author: European Consortium SLE DNA Collec Megjegyzés-25640427 Group Author: European Consortium SLE DNA Collec Research laboratory 10 and Rheumatology Unit, Health Research Institute-Clinic Hospital of Santiago, Choupana s/n, Santiago de Compostela 15706, Spain Rheumatology Service, INIBIC-University Hospital Complex A Coruña, Jubias de Arriba 84, A Coruña 15006, Spain Department of Functional Biology, University of Oviedo, Julián Clavería s/n, Oviedo 33006, Spain Rheumatology Department, Hospital Garcia de Orta and Rheumatology Research Unit, Molecular Medicine Institute, Prof Egas Moniz s/n, Lisbon 1649-028, Portugal Department of Histocompatibility and Immunology, Evangelismos Hospital, Ipsilantou Str 45-47, Athens 10675, Greece Rheumatology Department, 12th of October Hospital, Av Andalucía s/n, Madrid 28041, Spain Institute of Clinical Biochemistry, Martin Faculty Hospital and Jessenius Medical Faculty, Kollárova 2, Martin 036 59, Slovakia Internal Medicine and Research Laboratory in Autoimmune Diseases, Hospital Vall d'Hebron, Passeig Vall d'Hebron 119-129, Barcelona 08035, Spain Referral Center for Systemic Autoimmune Diseases, Foundation IRCCS General Hospital and University of Milan, Via Francesco Sforza 35, Milan 20122, Italy Euroclinic of Athens, Athanasiadou str 7-9, 11521 Athens, Greece Department of Internal Medicine and Rheumatology, Martini Hospital, Van Swietenplein 1, Groningen 9728, Netherlands Department of Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont Amedeo Avogadro, 28100 Novara, Italy UOC Rheumatology, Reumatologia, San Camillo-Forlanini Hospital, Rome, Italy Rheumatology Unit, Second University of Naples, 81100 Naples, Italy Division of Clinical Immunology, Department of Internal Medicine, Hannover Medical School, 30625 Hannover, Germany Saint-Luc University Clinic, Catholic University of Leuven, Brussels, Belgium Department of Rheumatology, Hospital of Hungarian State Railways, 5000 Verseghy u6-8, Szolnok, Hungary Institute of Biotechnology, Academy of Sciences of the Czech Republic, Vídeňská 1083 142 20, Prague, Czech Republic Department of Medicine, University of Santiago de Compostela, Calle Choupana s/n, Santiago de Compostela 15706, Spain Department of Histocompatibility and Immunology, Evangelismos Hospital, Athens, Greece Clinical Immunology, University of Milan, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy Internal Medicine, Research Laboratory in Autoimmune Diseases Hospital Vall d'Hebron, Barcelona, Spain Department of Rheumatology and Clinical Immunology, University Medical Center Groningen, Groningen, Netherlands Rheumatology Department, Hospital Garcia de Orta, Almada, Portugal Rheumatology Research Unit, Molecular Medicine Institute, Faculty of Medicine, University of Lisbon, Lisbon, Portugal Pathophysiology Department, Athens University Medical School, Athens, Greece Department of Functional Biology, Hospital Universitario Central de Asturias, Universidad de Oviedo, Oviedo, Spain Servicio de Reumatología, Complejo Hospitalario Universitario A Coruña, A Coruña, Spain Department of Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont Amedeo Avogadro, Novara, Italy Division of Clinical Immunology, Department of Internal Medicine, Hannover Medical School, Hannover, Germany Pediatrics Department, Albert Szent-Györgyi Medical and Pharmaceutical Centre, University of Szeged, Szeged, Hungary Molecular Biology and Immunogenetics Department, Institute of Rheumatology, Prague, Czech Republic Laboratorio de Investigacion 10 and Rheumatology Unit, Instituto de Investigacion Sanitaria-Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain Cited By :4 Export Date: 2 December 2019 CODEN: ARTRC Correspondence Address: Gonzalez, A.; Research laboratory 10 and Rheumatology Unit, Health Research Institute-Clinic Hospital of Santiago, Choupana s/n, Santiago de Compostela 15706, Spain; email: antonio.gonzalez.martinez-pedrayo@sergas.es Research laboratory 10 and Rheumatology Unit, Health Research Institute-Clinic Hospital of Santiago, Choupana s/n, Santiago de Compostela 15706, Spain Rheumatology Service, INIBIC-University Hospital Complex A Coruña, Jubias de Arriba 84, A Coruña 15006, Spain Department of Functional Biology, University of Oviedo, Julián Clavería s/n, Oviedo 33006, Spain Rheumatology Department, Hospital Garcia de Orta and Rheumatology Research Unit, Molecular Medicine Institute, Prof Egas Moniz s/n, Lisbon 1649-028, Portugal Department of Histocompatibility and Immunology, Evangelismos Hospital, Ipsilantou Str 45-47, Athens 10675, Greece Rheumatology Department, 12th of October Hospital, Av Andalucía s/n, Madrid 28041, Spain Institute of Clinical Biochemistry, Martin Faculty Hospital and Jessenius Medical Faculty, Kollárova 2, Martin 036 59, Slovakia Internal Medicine and Research Laboratory in Autoimmune Diseases, Hospital Vall d'Hebron, Passeig Vall d'Hebron 119-129, Barcelona 08035, Spain Referral Center for Systemic Autoimmune Diseases, Foundation IRCCS General Hospital and University of Milan, Via Francesco Sforza 35, Milan 20122, Italy Euroclinic of Athens, Athanasiadou str 7-9, 11521 Athens, Greece Department of Internal Medicine and Rheumatology, Martini Hospital, Van Swietenplein 1, Groningen 9728, Netherlands Department of Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont Amedeo Avogadro, 28100 Novara, Italy UOC Rheumatology, Reumatologia, San Camillo-Forlanini Hospital, Rome, Italy Rheumatology Unit, Second University of Naples, 81100 Naples, Italy Division of Clinical Immunology, Department of Internal Medicine, Hannover Medical School, 30625 Hannover, Germany Saint-Luc University Clinic, Catholic University of Leuven, Brussels, Belgium Department of Rheumatology, Hospital of Hungarian State Railways, 5000 Verseghy u6-8, Szolnok, Hungary Institute of Biotechnology, Academy of Sciences of the Czech Republic, Vídeňská 1083 142 20, Prague, Czech Republic Department of Medicine, University of Santiago de Compostela, Calle Choupana s/n, Santiago de Compostela 15706, Spain Department of Histocompatibility and Immunology, Evangelismos Hospital, Athens, Greece Clinical Immunology, University of Milan, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy Internal Medicine, Research Laboratory in Autoimmune Diseases Hospital Vall d'Hebron, Barcelona, Spain Department of Rheumatology and Clinical Immunology, University Medical Center Groningen, Groningen, Netherlands Rheumatology Department, Hospital Garcia de Orta, Almada, Portugal Rheumatology Research Unit, Molecular Medicine Institute, Faculty of Medicine, University of Lisbon, Lisbon, Portugal Pathophysiology Department, Athens University Medical School, Athens, Greece Department of Functional Biology, Hospital Universitario Central de Asturias, Universidad de Oviedo, Oviedo, Spain Servicio de Reumatología, Complejo Hospitalario Universitario A Coruña, A Coruña, Spain Department of Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont Amedeo Avogadro, Novara, Italy Division of Clinical Immunology, Department of Internal Medicine, Hannover Medical School, Hannover, Germany Pediatrics Department, Albert Szent-Györgyi Medical and Pharmaceutical Centre, University of Szeged, Szeged, Hungary Molecular Biology and Immunogenetics Department, Institute of Rheumatology, Prague, Czech Republic Laboratorio de Investigacion 10 and Rheumatology Unit, Instituto de Investigacion Sanitaria-Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain Cited By :7 Export Date: 22 June 2021 CODEN: ARTRC Correspondence Address: Gonzalez, A.; Research laboratory 10 and Rheumatology Unit, Health Research Institute-Clinic Hospital of Santiago, Choupana s/n, Santiago de Compostela 15706, Spain; email: antonio.gonzalez.martinez-pedrayo@sergas.es LA - English DB - MTMT ER -