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  • Abstract Number: 2332 • 2017 ACR/ARHP Annual Meeting

    Biomarkers for the Diagnosis and the Identification of Risk of Macrophage Activation Syndrome (MAS) in Systemic Juvenile Idiopathic Arthritis (sJIA)

    Claudia Bracaglia1, Denise Pires Marafon2, Ivan Caiello3, Kathy de Graaf4, Maria Ballabio4, Walter Ferlin4, Sergio Davì5, Grant Schulert6, Angelo Ravelli7, Alexei A. Grom8, Robert Nelson4, Cristina de Min4 and Fabrizio De Benedetti2, 1Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, 2Division of Rheumatology, IRCCS Bambino Gesù Children's Hospital, Rome, Rome, Italy, 3Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, 4NovImmune S.A., Geneva, Switzerland, 5University of Genova, IRCCS Istituto Giannina Gaslini, Genoa, Italy, 6Pediatric Rheumatology, Division of Pediatric Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 7University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy, 8Division of Pediatric Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, United States Minor Outlying Islands

    Background/Purpose: We have recently reported high levels of IFNγ and of the IFNγ-related chemokines, (CXCL9 and CXCL10) in patients with MAS (1). Methods: Circulating levels…
  • Abstract Number: 2333 • 2017 ACR/ARHP Annual Meeting

    Adjudication of Infections from the Pharmacovigilance in Juvenile Idiopathic Arthritis Patients (PHARMACHILD) Treated with Biologic Agents and/or Methotrexate with a Focus on Opportunistic Infections

    Joost Swart1, Gabriella Giancane1,2, Elio Castagnola1, Andreas Groll1, Gerd Horneff1, Hans-Iko Huppertz1, Daniel J Lovell3, Tom Wolfs1, Michaël Hofer1, Ekaterina Alexeeva1, Violeta Vladislava Panaviene1, Susan Nielsen1, Jordi Anton1, Florence Uettwiller1, Valda Stanevicha1, Maria Trachana1, Fabrizio De Benedetti1, Constantin Ailioaie1, Elena Tsitsami1, Sylvia S.M. Kamphuis1, Troels Herlin1, Pavla Dolezalová1, Gordana Susic1, Berit Flato1, Flavio Sztajnbok1, Elena Fueri4, Francesca Bovis5, Francesca Bagnasco1, Angela Pistorio1, Alberto Martini6, Nico Wulffraat7 and Nicolino Ruperto6, 1Istituto Giannina Gaslini - Pediatria II, Reumatologia - PRINTO, Genoa, Italy, 2Pediatria II, Reumatologia - PRINTO, Istituto Giannina Gaslini - Pediatria II, Reumatologia - PRINTO, Genova, Italy, 3Rheumatology, PRCSG - Cincinnati Children's Hospital Medical Center, Cinncinnati, OH, 4Istituto Giannina Gaslini - Pediatria II, Reumatologia - PRINTO, Genova, Italy, 5Università degli Studi di Genova, Genoa, Italy, 6Istituto Giannina Gaslini, Genoa, Italy, 7Pediatric rheumatology, Wilhelmina Children's Hospital/ UMC Utrecht, Utrecht, Netherlands

    Background/Purpose: Pharmachild is a pharmacovigilance registry on children with JIA treated mainly with biologics ± methotrexate (MTX). Little evidence exists in literature about the role…
  • Abstract Number: 2334 • 2017 ACR/ARHP Annual Meeting

    Hypermethylation of NLRP3 Promoter Region Could be Responsible for Decreased Gene Expression, Inflammasome Malfunction and Gut Dysbiosis in Juvenile Spondyloarthritis Patients

    Lovro Lamot1,2, Kristina Gotovac Jercic3, Antonela Blazekovic3, Mirta Lamot4, Mandica Vidovic4, Fran Borovecki3 and Miroslav Harjacek3,4, 1Department of Pediatrics, University of Zagreb School of Medicine, Zagreb, Croatia, 2Department of Pediatrics, Division of Clinical Immunology and Rheumatology, Clinical Hospital Center Sestre Milosrdnice, Zagreb, Croatia, 3University of Zagreb School of Medicine, Zagreb, Croatia, 4Clinical Hospital Center Sestre Milosrdnice, Zagreb, Croatia

    Background/Purpose:  Juvenile spondyloarthritis (jSpA) is a complex disease with both genetic and environmental factors contributing to the etiology. Recently obtained gene signatures in jSpA patients…
  • Abstract Number: 2335 • 2017 ACR/ARHP Annual Meeting

    Antiendothelial Cell Antibodies in Juvenile Dermatomyositis: A Proteomics-Based Approach

    Rie Karasawa1, Mayumi Tamaki1, Toshiko Sato1, Megumi Tanaka1, Kazuo Yudoh1 and James Jarvis2, 1Institute of Medical Science, St. Marianna University School of Medicine, Kawasaki, Japan, 2Department of Genetics, Genomics & Bioinformatics, University at Buffalo, Buffalo, NY

    Background/Purpose: Juvenile dermatomyositis (JDM) is a systemic disorder of childhood characterized by muscle inflammation and vasculopathy. The mechanisms of the blood vessel injury in JDM…
  • Abstract Number: 2336 • 2017 ACR/ARHP Annual Meeting

    Expression of Myxovirus-Resistance Protein a: A Possible Marker of Muscular Disease Activity in Juvenile Dermatomyositis

    Sirisucha Soponkanaporn1, Claire Deakin2, Lucy Marshall2, Cerise Johnson2, Peter Schutz1 and Lucy R Wedderburn2, 1Infection Inflammation and Rheumatology Section, UCL Great Ormond Street Institute of Child Health, University College London, United Kingdom, London, United Kingdom, 2Infection, Immunity and Inflammation Programme, UCL Great Ormond Street Institute of Child Health, University College London, United Kingdom, London, United Kingdom

    Background/Purpose: Juvenile dermatomyositis (JDM) is a chronic autoimmune myopathy characterized by proximal muscle weakness and typical skin rashes. Type I interferon (IFN) gene expression in…
  • Abstract Number: 2337 • 2017 ACR/ARHP Annual Meeting

    Novel Serum Broad-Based Proteomic Discovery Analysis Identifies Proteins and Pathways Dysregulated in Juvenile Dermatomyositis (JDM) and Myositis Autoantibody Groups

    Hanna Kim1, Angélique Biancotto2, Foo Cheung3, Terrance P. O'Hanlon4, Ira N. Targoff5, Yan Huang6, Frederick W Miller4, Raphaela Goldbach-Mansky6 and Lisa G Rider4, 1Pediatric Translational Research Branch, NIAMS/NIH, Bethesda, MD, 2Center for Human Immunology, Autoimmunity and Inflammation (CHI), NHLBI, NIH, Bethesda, MD, 3Center for Human Immunology Autoimmunity and Inflammation (CHI), NHLBI, NIH, Bethesda, MD, 4Environmental Autoimmunity Group, NIEHS, NIH, Bethesda, MD, 5VA Medical Center, University of Oklahoma Health Sciences Center, Oklahoma Medical Research Foundation, Oklahoma City, OK, 6Translational Autoinflammatory Disease Studies (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD

    Background/Purpose: Juvenile dermatomyositis (JDM) is a complex heterogeneous autoimmune disease.  Myositis-specific autoantibodies (MSAs), present in up to 80% of JDM patients, help define distinct phenotypes…
  • Abstract Number: 2338 • 2017 ACR/ARHP Annual Meeting

    Plasma Exosomes from Children with Juvenile Dermatomyositis Are Taken up By Human Aortic Endothelial Cells and Are Associated with Altered Gene Expression in Those Cells

    Kaiyu Jiang1, Zihua Hu2, Rie Karasawa3, Yanmin Chen1 and James Jarvis4, 1Pediatrics, University at Buffalo, Buffalo, NY, 2Center for Computational Research, University at Buffalo, Buffalo, NY, 3Institute of Medical Science, St. Marianna University School of Medicine, Japan, Kawasaki, Japan, 4Department of Genetics, Genomics & Bioinformatics, University at Buffalo, Buffalo, NY

    Background/Purpose: The pathology of juvenile dermatomyositis (JDM) is characterized by prominent vessel wall and perivascular inflammation. This feature of the disease has remained unexplained and…
  • Abstract Number: 2339 • 2017 ACR/ARHP Annual Meeting

    Expression of Type I and Type II Interferons Is Increased in Muscle Biopsies of Juvenile Dermatomyositis Patients and Related to Clinical and Histological Features

    Rebecca Nicolai1, Gian Marco Moneta2, Silvia Rosina3, Chiara Fiorillo3, Denise Pires Marafon1, Margherita Verardo4, Luisa Bracci Laudiero5,6, Carlo Minetti3,7, Angelo Ravelli3,8 and Fabrizio De Benedetti1, 1Division of Rheumatology, IRCCS Bambino Gesù Children's Hospital, Rome, Rome, Italy, 2Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Roma, Italy, 3University of Genova, Genova, Italy, 4Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Roma, Italy, 5Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Roma, Italy, 6Institute of Translational Pharmacology, CNR, Rome, Italy, Rome, Italy, 7Pediatric Neurology and Muscular Disorders, Giannina Gaslini Institute, Genova, Italy, 8Rheumatology, Giannina Gaslini Institute, Genova, Italy

    Background/Purpose: There is growing evidence for an involvement of interferons (IFNs) in the chronic inflammation that characterizes juvenile dermatomyositis (JDM). The aim of this study…
  • Abstract Number: 2340 • 2017 ACR/ARHP Annual Meeting

    Correlation of Type I Interferon Score and CXCL10 (C-X-C Motif Chemokine Ligand 10) with Cutaneous and Muscular Disease Activity in Juvenile Dermatomyositis Patients

    Rebecca Nicolai1, Gian Marco Moneta2, Ivan Caiello3, Denise Pires Marafon1, Silvia Rosina4, Luisa Bracci Laudiero5,6, Angelo Ravelli4,7 and Fabrizio De Benedetti1, 1Division of Rheumatology, IRCCS Bambino Gesù Children's Hospital, Rome, Rome, Italy, 2Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Roma, Italy, 3Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy, 4University of Genova, Genova, Italy, 5Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Roma, Italy, 6Institute of Translational Pharmacology, CNR, Rome, Italy, Rome, Italy, 7Rheumatology, Giannina Gaslini Institute, Genova, Italy

    Background/Purpose: Interferons (IFNs) seem to be important contributors in the pathogenesis of juvenile dermatomyositis (JDM). Our group previously reported that expression of both type I…
  • Abstract Number: 2341 • 2017 ACR/ARHP Annual Meeting

    The Interaction between Genetic Risk Factors and Age of Disease Onset in Juvenile Dermatomyositis

    Claire Deakin1, John Bowes2, Lucy Marshall1, Cerise Johnson1, Gulnara Mamyrova3, Rodolfo Curiel4, Kelly A. Rouster-Stevens5, Heinrike Schmeling6, Adam Huber7, Brian M. Feldman8, Ann M Reed9, Lauren M. Pachman10, Soumya Raychaudhuri11, Stephen Eyre12 and Lucy R Wedderburn1, 1Infection, Immunity and Inflammation Programme, UCL Great Ormond Street Institute of Child Health, University College London, United Kingdom, London, United Kingdom, 2Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester, United Kingdom, 3Rheumatology, George Washington University School of Medicine and Health Sciences, Washington, DC, 4Department of Rheumatology, George Washington University, Washington, DC, 5Pediatric Rheumatology, Emory Children's Center, Atlanta, GA, 6Alberta Children’s Hospital/University of Calgary, Calgary, AB, Canada, 7IWK Health Centre, Halifax, NS, Canada, 8Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, 9Rheumatology, Duke University, Durham, NC, 10Cure JM Program of Excellence in Juvenile Myositis Research, Stanley Manne Children’s Research Institute, affiliated with Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, 11Division of Medicine and Rheumatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 12Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom

    Background/Purpose: Juvenile dermatomyositis (JDM) is a rare, severe autoimmune disease characterized by muscle weakness and rash. Clinical features of JDM are heterogeneous, and can include…
  • Abstract Number: 2342 • 2017 ACR/ARHP Annual Meeting

    Transcriptomic Analysis Reveals Mitochondrial and Monocyte Dysfunctions Are Linked to the Interferonopathy of Juvenile Dermatomyositis

    Claire Deakin1, Elizabeth Rosser1, Lucy Marshall1, Meredyth Wilkinson2, Aziza Khabbush3, Stefania Simou1, Georg Otto3, Stefanie Dowle3, Daniel Kelberman3, Simon Yona2, Simon Eaton3 and Lucy R Wedderburn1, 1Infection, Immunity and Inflammation Programme, UCL Great Ormond Street Institute of Child Health, University College London, United Kingdom, London, United Kingdom, 2Division of Medicine, University College London, London, United Kingdom, 3Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, United Kingdom, London, United Kingdom

    Background/Purpose: Although type I interferon (IFN1) and endoplasmic reticulum (ER) stress have been implicated in pathogenesis of juvenile dermatomyositis (JDM), little else is known about…
  • Abstract Number: 2343 • 2017 ACR/ARHP Annual Meeting

    A Genome-Wide Association Study Suggests the HLA Class II Region As the Major Susceptibility Locus for IgA Vasculitis

    Raquel López-Mejías1, Sara Remuzgo-Martínez1, Fernanda Genre1, Francisco David Carmona2, Santos Castañeda3, Belén Sevilla Pérez4, Norberto Ortego Centeno4, Javier Llorca5, Begoña Ubilla1, Veronica Mijares1, Trinitario Pina6, Jose A. Miranda-Filloy7, Antonio Navas Parejo8, Diego Argila9, Maximiliano Aragües10, Esteban Rubio-Romero11, Manuel Leon Luque12, Juan María Blanco Madrigal13, Eva Galindez-Agirregoikoa13, David Jayne14, Ricardo Blanco1, Javier Martin15 and Miguel Angel González-Gay16, 1Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, IDIVAL, Santander, Spain, 2Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, PTS-Granada, Departamento de Genética e Instituto de Biotecnología, University of Granada, Granada, Spain, 3Hospital Universitario La Princesa. IIS-IP. Madrid. Spain, Madrid, Spain, 4Medicine Department, Hospital Universitario San Cecilio, Granada, Spain, 5Department of Epidemiology and Computational Biology, School of Medicine, University of Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), IDIVAL, Santander, Spain, 6Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain, 7Rheumatology Division, Hospital Lucus Augusti, Lugo, Spain, 8Nephrology Department, Hospital Universitario San Cecilio, Granada, Spain, 9Dermatology Department, Hospital Universitario La Princesa, IIS-Princesa, Madrid, Spain, 10Dermatology Department, Hospital Universitario La Princesa, IIS-Princesa, MAdrid, Spain, 11Hospital Universitario Virgen del Rocío. Sevilla. Spain, Sevilla, Spain, 12Rheumatology Department,Hospital Universitario Virgen del Rocío, Sevilla, Spain, 13Rheumatology Division, Hospital Universitario de Basurto, Bilbao, Spain, 14Department of Medicine, University of Cambridge, Cambridge, United Kingdom, 15Instituto de Parasitología y Biomedicina López-Neyra, Granada, Spain, 16Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL and School of Medicine, University of Cantabria, Santander, Spain

    Background/Purpose: Immunoglobulin-A (IgA) vasculitis, also known as Henoch-Schöenlein purpura (HSP), is the most common type of primary small-sized blood vessel leukocytoclastic vasculitis in children, although…
  • Abstract Number: 2344 • 2017 ACR/ARHP Annual Meeting

    Cell-Bound Complement Activation Products As Markers of Disease Flares in Childhood Onset Systemic Lupus Erythematosus

    Yevgeniya Gartshteyn1, Joyce Hui-Yuen2, Miya Okado1, Teja Kapoor1, Thierry Dervieux3 and Anca Askanase4, 1Rheumatology, Columbia University College of Physicians & Surgeons, New York, NY, 2Pediatric Rheumatology, Columbia University College of Physicians & Surgeons, New York, NY, 33Exagen Diagnostics, Albuquerque, CA, 4Department of Medicine, Rheumatology, Columbia University College of Physicians & Surgeons, New York, NY

    Background/Purpose: Cell-bound complement activation products, CB-CAPs (C4d deposition on erythrocytes [EC4d], B lymphocytes [BC4d], reticulocytes [RC4d], platelets [PC4d], and C3d deposition on reticulocytes [RC3d]) are…
  • Abstract Number: 2345 • 2017 ACR/ARHP Annual Meeting

    Characterization of Adenosine Deaminase 2 Variants Identified in an International Pediatric Vasculitis Cohort

    Kristen Gibson1,2, David Cabral3,4, Britt Drogemoller5, Xiaohua Xhan5, Fudan Miao6, Kimberly Morishita7, Erin Gill8, Robert E. W. Hancock8, Colin Ross5,9 and Kelly Brown9,10, 1Medical Genetics, The University of British Columbia, Vancouver, BC, Canada, 2BC Children's Hospital Research Insitute, Vancouver, BC, Canada, 3BC Children's Hospital, Vancouver, BC, Canada, 4University of British Columbia, Vancouver, BC, Canada, 5Pharmaceutical Sciences, The University of British Columbia, Vancouver, BC, Canada, 6The University of British Columbia, Vancouver, BC, Canada, 7BC Children's Hospital and University of British Columbia, Vancouver, BC, Canada, 8Microbiology and Immunology, The University of British Columbia, Vancouver, BC, Canada, 9BC Children's Hospital Research Institute, Vancouver, BC, Canada, 10Pediatrics, The University of British Columbia, Vancouver, BC, Canada

    Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is a recently recognized, autosomal recessive genetic disease. Patients present with various, early-onset systemic vascular and inflammatory manifestations,…
  • Abstract Number: 2346 • 2017 ACR/ARHP Annual Meeting

    Chemokine Ligand 9 (CXCL9) [Monokine Induced By Gamma Interferon (MIG)]  As a Predictor of Active Disease Status in Localized Scleroderma

    Kathryn S. Torok1, Qi Mi2, Emily Mirizio3, Kaila Schollaert-Fitch1, Mark Fritzler4 and Marvin J. Fritzler5, 1Pediatric Rheumatology, University of Pittsburgh Med Ctr, Pittsburgh, PA, 2Department of Sports Medicine and Nutrition, University of Pittsburgh, Pittsburgh, PA, 3Pediatric Rhuematology, University of Pittsburgh Med Ctr, Pittsburgh, PA, 4Eve Technologies, Calgary, AB, Canada, 5Medicine, University of Calgary, Calgary, AB, Canada

    Background/Purpose: Localized scleroderma (LS) is a fibrotic autoimmune disease of the skin and underlying tissues which can lead to disfiguring sequlea, especially in childhood-onset.  Untreated…
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