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  • Abstract Number: 774 • 2019 ACR/ARP Annual Meeting

    Identical T Cell Clones Identified over Time in the Joints of Oligoarticular Juvenile Idiopathic Arthritis Patients

    Amelie Jule1, Kacie Hoyt 2, Margaret Chang 3, Fatma Dedeoglu 2, Melissa Hazen 1, Peter Nigrovic 4 and Lauren Henderson 1, 1Boston Children's Hospital, Boston, MA, 2Boston Children's Hospital, Boston, 3Division of Immunology, Boston Children's Hospital, Boston, 4Department of Medicine, Division of Rheumatology, Immunology and Allergy, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA ; Department of Medicine, Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA., Boston

    Background/Purpose: Oligoarticular juvenile idiopathic arthritis (oligo JIA) is characterized by arthritis in a few joints (fewer than 5) with recurrent flares of inflammation, often in…
  • Abstract Number: 775 • 2019 ACR/ARP Annual Meeting

    Cutaneous Gene Expression Signatures in Juvenile Myositis Reveal a Prominent IFN Signature in Lesional Skin

    Jessica Turnier1, Celine Berthier 1, Lam Tsoi 1, Lori Lowe 1, Gabrielle Morgan 2, Johann Gudjonsson 1, Lauren Pachman 2 and J. Michelle Kahlenberg 1, 1University of Michigan, Ann Arbor, MI, 2Northwestern University, Chicago

    Background/Purpose: Skin inflammation can herald systemic disease manifestations and disease chronicity in juvenile myositis (JM), yet we lack an understanding of the pathogenic mechanisms driving…
  • Abstract Number: 776 • 2019 ACR/ARP Annual Meeting

    Genetic Signatures Support Inflammation Driven Fibrosis in Localized Scleroderma

    Christina Schutt1, Emily Mirizio 2, Claudia Salgado 3, Miguel Reyes-Mugica 3, Kaila L. Schollaert 2 and Kathryn Torok 3, 1UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, 2University of Pittsburgh, Pittsburgh, 3UPMC Children's Hospital of Pittsburgh, Pittsburgh

    Background/Purpose: Localized scleroderma (LS) is a progressive autoimmune disease of the skin and underlying tissue that is characterized by an initial inflammatory infiltration which is…
  • Abstract Number: 777 • 2019 ACR/ARP Annual Meeting

    Interferon Response Gene Expression Differs in Whole Blood, Peripheral Blood Mononuclear Cells, Monocytes, Dendritic Cells, Neutrophils, and Skin Tissue in Patients with the Autoinflammatory Interferonopathies, CANDLE and SAVI

    Jacob Mitchell1, Sara Alehashemi 2, Bernadette Marrero 3, Yan Huang 4, Lena Bichell 5, Gina Montealegre Sanchez 1, Raphaela Goldbach-Mansky 2 and Adriana de Jesus 1, 1Translational Autoinflammatory Disease Section/NIAID/NIH, Bethesda, 2Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD, 3Computational Systems Biology Section/NIAID/NIH, Bethesda, 4Translational Autoinflammatory Disease Section/NIAID/NIH, Bethesda, MD, 5Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda

    Background/Purpose: The disease progression of patients (pts.) with type-I interferon (IFN)-mediated diseases undergoing treatment with JAK1 and JAK2 inhibitors is monitored in part by measuring…
  • Abstract Number: 778 • 2019 ACR/ARP Annual Meeting

    Multiple Genetic Diagnoses in a Cohort of Patients with Cryopyrin Associated Periodic Syndrome (CAPS)

    Sofia Torreggiani1, Megha Garg 2, Sara Alehashemi 3, Kim johnson 1, Jenna Wade 4, Lena Bichell 4, Magdalena Walkiewicz 5, Adriana de Jesus 6 and Raphaela Goldbach-Mansky 3, 1Translational and Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD, 2Rochester Regional Health, Rochester, NY, 3Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD, 4Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, 5Division of Intramural Research (DIR)/NIAID/NIH, Bethesda, MD, 6Translation Autoinflammatory Diseases Section/NIAID/NIH, Silver Spring, MD

    Background/Purpose: Cryopyrin associated periodic syndrome (CAPS) is an autosomal dominant autoinflammatory disease caused by mutations in NLRP3. CAPS comprises 3 clinical phenotypes of increasing severity:…
  • Abstract Number: 779 • 2019 ACR/ARP Annual Meeting

    The Juvenile Idiopathic Arthritis-Associated IL2RA Haplotype Contains an Intronic Enhancer Whose Function Is Diminished by JIA-Associated Genetic Variants

    Kaiyu Jiang 1, Yungki Park 1, Tarbell Evan 1, Tao Liu 2 and James N. Jarvis3, 1University at Buffalo Jacobs School of Medicine, Buffalo, NY, 2Roswell Park Cancer Instiyute, Buffalo, NY, 3University at Buffalo, Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY

    Background/Purpose: IL2RA has been identified as a JIA-associated risk locus using both candidate gene and genetic fine mapping approaches.  However, numerous gene expression studies comparing…
  • Abstract Number: 780 • 2019 ACR/ARP Annual Meeting

    Changes in MiR-17-92 Cluster Expression Link Systemic Juvenile Idiopathic Arthritis, Monocyte-to-Macrophage Differentiation, and Interferon Regulation

    Divya Takellapti1, Xiaoling Niu 2, Thuy Do 3 and Grant Schulert 3, 1Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2Fudan University, Shanghai, Shanghai, China (People's Republic), 3Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: MicroRNAs (miRNAs) are small noncoding RNAs which post-transcriptionally regulate gene expression. The miR-17-92 cluster is well characterized; its overexpression has been found to serve…
  • Abstract Number: 781 • 2019 ACR/ARP Annual Meeting

    Is down Syndrome Associated Arthritis (DA) a Distinct Disease from Juvenile Idiopathic Arthritis (JIA)?

    Charlene Foley1, Achilleas Floudas 2, Sharon Ansboro 2, Mary Canavan 2, Monika Biniecka 2, Emma Jane MacDermott 3, Ronan Mullan 4, Gerry Wilson 5, Ursula Fearon 6 and Orla Killeen 7, 1Great Ormond Street Hospital, London, Ireland, 2TBSI, Dublin, Ireland, 3OLCHC, Dublin, Ireland, 4Tallaght Hospital, Dublin, Ireland, 5UCD, Dublin, Ireland, 6TBSI, Dublin, 7National Centre for Paediatric Rheumatology (NCPR), Our Lady’s Children’s Hospital Crumlin (OLCHC), Dublin, Ireland

    Background/Purpose: Down syndrome associated Arthritis (DA) is 20 times more common than JIA. It is an erosive, polyarticular RF negative arthritis with predominance in the…
  • Abstract Number: 782 • 2019 ACR/ARP Annual Meeting

    Oligoarticular Juvenile Idiopathic Arthritis Displayed Increased Expression of Co-Inhibitory Receptors Without Signs of T-Cell Exhaustion

    Erdal Sag1, Selcan Demir 2, Morten A. Nielsen 3, Malene Hvid 4, Egemen Turhan 5, Yelda Bilginer 2, Seza Ozen 6 and Bent Deleuran 7, 1Hacettepe University, Ankara, Turkey, 2Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University, Ankara, Turkey, 3Department of Biomedicine, Aarhus University, Aarhus, Denmark, 4Department of Biomedicine; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark, 5Department of Orthopedics and Traumatology, Hacettepe University, Ankara, Turkey, 6Hacettepe University Hospital, Ankara, Turkey, 7Department of Biomedicine; Department of Rheumatology, Aarhus University, Aarhus, Denmark

    Background/Purpose: Activated T cells are involved in the pathogenesis of the synovitis in oligoarticular Juvenile Idiopathic Arthritis (o-JIA). T cell activation is counter-balanced via co-inhibitory…
  • Abstract Number: 783 • 2019 ACR/ARP Annual Meeting

    Differences in Chromatin Architecture in Treatment Naïve Pediatric Lupus Patients

    Joyce Hui-Yuen1, Frank Jenkins 2, Kaiyu Jiang 3, Susan Malkiel 2, Betty Diamond 4 and James N. Jarvis 5, 1Cohen Children's Medical Center, Northwell Health, New Hyde Park, NY, 2Feinstein Institute for Medical Research, Manhasset, 3University at Buffalo Jacobs School of Medicine, Buffalo, NY, 4Feinstein Institutes for Medical Research, Manhasset, 5University at Buffalo, Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY

    Background/Purpose: Systemic lupus erythematosus (SLE) is a complex disease likely triggered by gene-environment interactions. We have shown that most of the SLE-associated haplotypes encompass genomic…
  • Abstract Number: 784 • 2019 ACR/ARP Annual Meeting

    Application of Systems Biology-Based In Silico Tools for Optimal Treatment Strategy Identification in Still’s Disease

    Cristina Segu-Verges1, Mireia Coma 1, Christoph Kessel 2, Serge Smeets 3, Dirk Foell 2 and Anna Aldea 4, 1Anaxomics, Barcelona, Catalonia, Spain, 2University Hospital Muenster, Muenster, Germany, 3Novartis, Amsterdam, Netherlands, 4Novartis, Barcelona, Catalonia, Spain

    Background/Purpose: Systemic JIA (sJIA) and Adult Onset Still’s Disease may represent a disease continuum1 of the same autoinflammatory disorder, Still’s Disease. Current challenges in its…
  • Abstract Number: 785 • 2019 ACR/ARP Annual Meeting

    Predictors of Response to Tumour Necrosis Factor – α Inhibitors (TNFi) in Juvenile Idiopathic Arthritis (JIA): A Single-center Experience

    Muhammad Shipa1, Anastasia-vasiliki Madenidou 2, vera Choida 1, Anna Radziszewska 3, corinne fisher 4, coziana ciurtin 1, maria Leandro 1 and Debajit Sen 1, 1Centre for Adolescent Rheumatology versus Arthritis at UCL, UCLH and GOSH, London, UK, London, United Kingdom, 2Centre for Adolescent Rheumatology, University College London London, UK, LOndon, 3University College London, London, United Kingdom, 4Centre for Adolescent Rheumatology versus Arthritis at UCL, UCLH and GOSH, London, UK, lonodn, United Kingdom

    Background/Purpose: Biologics have transformed the treatment of Juvenile idiopathic arthritis (JIA) and escalation toTumour Necrosis Factor - α inhibitors (TNFi) after failure of methotrexate (MTX)…
  • Abstract Number: 786 • 2019 ACR/ARP Annual Meeting

    Distinguishing S100 Proteins and Cytokine Levels Between Active and Inactive Uveitis in Children with Juvenile Idiopathic Arthritis

    Jackeline Rodriguez-Smith1, Virginia Utz 2, Sherry Thornton 1, Grant Schulert 1, Adam Kauffman 3, Alyssa Sproles 1, Najima Mwase 1, Theresa Hennard 4, Alexei A. Grom 1, Mekibib Altaye 5, Gary Holland 6 and Sheila Angeles-Han 7, 1Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2Division of Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 3Cincinnati Eye Institute and Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 4Division of Rheumatology, Cincinnati Children's Hospital and Medical Center, Cincinnati, OH, 5Divison of Biostatistics and Epidemiology and Department of Pediatrics, University of Cincinnati, Cincinnati, OH, 6UCLA Stein Eye Institute and David Geffen School of Medicine at University of California, Los Angeles, Ca, Los Angeles, CA, 7Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cinicinnati

    Background/Purpose: Uveitis occurs in 10-20% of children with Juvenile Idiopathic Arthritis (JIA) and is typically asymptomatic. Ocular complications occur in 50% of children, (i.e. cataracts,…
  • Abstract Number: 787 • 2019 ACR/ARP Annual Meeting

    Complement Protein Levels Reflect Disease Activity in Juvenile Idiopathic Arthritis

    Mia Glerup1, Steffen Thiel 2, Veronika Rypdal 3, Ellen Dalen Arnstadt 4, Maria Ekelund 5, Suvi Peltoniemi 6, Kristiina Aalto 6, Marite Rygg 7, Susan Nielsen 8, Anders Fasth 9, Lillemor Berntson 10, Ellen Nordal 3 and Troels Herlin 11, 1Dept of Pediatrics, Aarhus University Hospital, Aarhus, Denmark, Aarhus, Denmark, 2Department of Biomedicine, Aarhus University, Aarhus, Denmark, Aarhus, Denmark, 3Department of Pediatrics, University Hospital of North Norway, and Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway., Tromsø, Norway, 4Department of Clinical and Molecular Medicine, NTNU - Norwegian University of Science and Technology, and Department of Pediatrics, Levanger Hospital, Nord-Trøndelag Hospital Trust, Levanger, Norway., Trondheim, Norway, 5Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden. Department of Pediatrics, Ryhov County Hospital, Jonkoping, Sweden., Jonkoping, Sweden, 6Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland., Helsinki, Finland, 7Department of Clinical and Molecular Medicine, NTNU - Norwegian University of Science and Technology and Department of Pediatrics, St. Olavs Hospital, Trondheim, Norway., Tromsø, Norway, 8Department of Pediatrics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Copenhavn, Denmark, 9Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Gothenburg, Sweden, 10Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden., Uppsala, Sweden, 11Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark., Aarhus, Denmark

    Background/Purpose: There is an increasing body of evidence that inadequately controlled activation of complement factors leading to either overactivity or deficiency may be involved in…
  • Abstract Number: 788 • 2019 ACR/ARP Annual Meeting

    Type I Interferon Score and Interferon Induced Mediators CXCL10 and Neopterin Are Correlated with Disease Activity in Juvenile Dermatomyositis

    Rebecca Nicolai1, Ivan Caiello 2, Rava' Lucilla 3, Silvia Rosina 4, Francesco Licciardi 5, Luisa Bracci Laudiero 2, Angelo Ravelli 6, Fabrizio De Benedetti 7 and Gian Marco Moneta 2, 1Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Lazio, Italy, 2Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, 3Clinical Epidemiology Unit, Ospedale Pediatrico Bambino Gesù, Roma, Italy, Rome, Italy, 4Giannina Gaslini Institute, IRCCS Clinica Pediatrica e Reumatologia, Genoa, Italy, Genoa, Italy, 5Division of Pediatric Immunology and Rheumatology, Regina Margherita Children Hospital,Turin, Italy, Turin, Italy, 6IRCCS Istituto Giannina Gaslini, Università degli Studi di Genova, Genova, Italy, 7Bambino Gesù Children’s Hospital, Rome, Italy

    Background/Purpose: Interferons (IFNs) seem to play an important role in the pathogenesis of juvenile dermatomyositis (JDM). Our group previously reported that expression of both type…
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