Abstracts tagged "genetics"

Abstract Number: 0172 • ACR Convergence 2020
Early Treatment and IL1RN Single Nucleotide Polymorphisms Affect Response to Anakinra in Systemic Juvenile Idiopathic Arthritis
Marianna Nicoletta Rossi¹, Manuela Pardeo², Denise Pires Marafon², Emanuela Sacco², Chiara Passarelli³, Claudia Bracaglia², Chiara Perrone³, Anna Tulone⁴, Giusi Prencipe⁵ and Fabrizio De Benedetti⁶, ¹Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Lazio, Italy, ²Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ³U.O.C. Laboratory of Medical Genetics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ⁴Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, ⁵Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesu', Rome, Italy, ⁶Division of Rheumatology, Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) represents 10-20% of all chronic arthritis during childhood. The interleukin 1 (IL-1) play a pivotal role in the pathogenesis…
Abstract Number: 1107 • ACR Convergence 2020
IL1RN Polymorphism Predicts Weight Loss, Inflammatory Biomarker Changes and Knee Osteoarthritis Pain Relief After Bariatric Surgery
Jonathan Samuels¹, Fernando Bomfim², Mukundan Attur³, Christine Ren-Fielding⁴, Manish Parikh⁵, Renata La Rocca-Vieira⁶ and Steven B. Abramson⁷, ¹NYU Langone, Rye Brook, NY, ²New York University, Department of Medicine, Division of Rheumatology, Millburn, NJ, ³NYU Langone Health, New York, NY, ⁴NYU Langone Health, New YOrk, ⁵Bellevue Hospital, New York, NY, ⁶NYU, New YOrk, ⁷New York University School of Medicine, New York, NY
Background/Purpose: Symptomatic knee osteoarthritis (SKOA) patients with obesity who undergo bariatric surgery experience knee pain relief, though the reduced mechanical load explains only part of…
Abstract Number: 1899 • ACR Convergence 2020
Life Expectancy a Swiss Cohort of Patients with Ankylosing Spondylitis: A 35-Year Follow-up Study
Zhixiu Li¹, Mohammad Khan², Sjef van der Linden³, Peter Villiger⁴, Heinz Baumberger⁵, Hermine Zandwijk⁶, Matthew Brown⁷ and Muhammad Khan⁸, ¹Queensland University of Technology (QUT), Translational Genomics Group, School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Translational Research Institute, Princess Alexandra Hospital, Brisbane, Qld, Australia, Brisbane, Queensland, Australia, ²Kent State University, Kent, OH, ³Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Bern, Switzerland, Mortroux, Belgium, ⁴Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Switzerland, Bern, Switzerland, ⁵Retired, Flims, Tajikistan, ⁶Retired, Mortroux, Belgium, ⁷Guy's and St Thomas, NHS Foundation Trust and King's College London NIHR Biomedical Research Centre, King's College London, London, United Kingdom, London, United Kingdom, ⁸Case Western Reserve University, Cleveland OH, Westlake, OH
Background/Purpose: To investigate life expectancy of a Swiss cohort of patients with ankylosing spondylitis (AS) versus general population during 35 years of longitudinal follow up,…
Abstract Number: 0176 • ACR Convergence 2020
Characterization and Molecular Mechanism Underlying NEMO Deleted Exon 5 Autoinflammatory Syndrome (NDAS)
Alex Wessel¹, Younglang Lee², Eries Lee³, Jiazhi Xu⁴, Somin Kim⁵, Amy Hsu⁶, Jevgenia Rudenko⁷, Clinton Enos⁸, Stephen Brooks³, Zuoming Deng⁹, Bin Lin¹⁰, Daniel Hupalo¹¹, Adriana Almeida de Jesus¹², Daniela Piotto¹³, Maria Teresa Terreri¹⁴, Victoria Dimitriades¹⁵, Dalgard Clifton¹¹, Steven Holland¹⁶, Raphaela Goldbach-Mansky¹⁷, Richard Siegel¹⁸ and Eric Hanson¹⁹, ¹Washington University St. Louis, St. Louis, ²PUsan National University, Pusan, Republic of Korea, ³NIAMS, NIH, Bethesda, ⁴Indiana University School of Medicine, Indianapolis, ⁵Emory University, Atlanta, ⁶NIAID, NIH, Bethesda, ⁷OHSU, Portland, ⁸Eastern Virginia Medical School, Norfolk, ⁹National Institute of Arthritis Musculoskeletal and Skin diseases, Bethesda, ¹⁰Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ¹¹6The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, ¹²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ¹³7Escola Paulista de Medicina/Universidade Federal de São Paulo, Sao Paolo, Brazil, ¹⁴Federal University of São Paulo, São Paulo, Brazil, ¹⁵Division of Infectious Diseases, Immunology & Allergy University of California Davis Health, Sacramento, ¹⁶Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases, Bethesda, ¹⁷NIH, Bethesda, ¹⁸Novartis Institutes for BioMedical Research, Basel, Switzerland, ¹⁹Riley Hospital for Children, IUSM, Indianapolis, IN
Background/Purpose: The NF-kB essential modulator (NEMO) is a scaffolding protein with a broad immune cell and tissue expression profile. Hypomorphic mutations in IKBKG encoding NEMO…
Abstract Number: 1121 • ACR Convergence 2020
Osteoarthritis in the Million Veterans Program: Integrating the Electronic Medical Record with Precision Medicine
Merry-Lynn McDonald¹, Preeti Lakshman Kumar¹, Vinod Srinivasasainagendra¹, Joshua Richman¹, Sarah Pinson¹, Alison Rocco¹, Dennis Richard², Vivek Jagadale², Cynthia Brown¹, Hemant Tiwari¹, Jasvinder Singh³ and Marcas Bamman¹, ¹University of Alabama at Birmingham, Birmingham, ²Central Arkansas Veterans Healthcare System, Little Rock, ³University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: Osteoarthritis (OA) had profound impacts on societal and patient-centered outcomes, including disability. As the first step to leverage the rich resource of the Million…
Abstract Number: 1953 • ACR Convergence 2020
Somatic Mutations in a Single Residue of UBA1 Cause VEXAS, a Severe Adult-Onset Rheumatic Disease Presenting as Relapsing Polychondritis, Polyarteritis Nodosa, or Giant Cell Arteritis
David Beck¹, Marcela Ferrada², Keith Sikora³, Amanda Ombrello⁴, Daniela Ospina Cardona⁵, Nicholas Balanda⁶, Wuhong Pei⁶, Jason Collins⁶, Robert Colbert⁷, Mariana Kaplan⁸, Massimo Gadina⁹, Sinisa Savic¹⁰, Helen Lachmann¹¹, Kyle Retterer¹², Shawn Burgess¹³, William Gahl⁶, Achim Werner⁶, Ivona Aksentijevich¹⁴, Neal S. Young⁶, Katherine R. Calvo⁶, Peter C. Grayson¹⁵ and Daniel Kastner¹⁶, ¹National Human Genome Research Institute, Bethesda, ²Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ³National Institutes of Health Clinical Center, Bethesda, MD, ⁴National Human Genome Research Institute/National Institutes of Health, Bethesda, MD, ⁵National Institute of Health, Bethesda, ⁶National Institutes of Health, Bethesda, ⁷Pediatric Clinical Trials Unit and Office of Clinical Director, NIAMS, NIH, Bethesda, MD, ⁸National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ⁹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, ¹⁰University of Leeds, England, United Kingdom, ¹¹National Amyloidosis CenterRoyal Free Campus, Rowland Hill St, London, United Kingdom, ¹²GeneDX, Gaithersburg, ¹³National Institutes of Health, Bethesda, MD, ¹⁴National Human Genome Research Institute, Bethesda, MD, ¹⁵Systemic Autoimmunity Branch, National Institutes of Health, NIAMS, Bethesda, MD, ¹⁶National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD
Background/Purpose: Identifying the causes of adult-onset rheumatic diseases remains a challenge, and limits diagnosis, prognosis, and targeted treatment. We hypothesized that mutations in genes regulating…
Abstract Number: 0184 • ACR Convergence 2020
Lymphomas Complicating Rheumatoid Arthritis: Results of a French Multi-Centre Case-Control Study
Joanna Kedra¹, Raphaèle Seror², Philippe Dieude³, Arnaud Constantin⁴, Eric Toussirot⁵, Elias Kfoury⁶, Charles Masson⁷, Divi Cornec⁸, Jean-Jacques Dubost⁹, Laurent Marguerie¹⁰, Sebastien Ottaviani¹¹, Franck Grados¹², Rakiba Belkhir¹³, Olivier Fain¹⁴, Philippe Goupille¹⁵, Christelle Sordet¹⁶, Bruno Fautrel¹⁷, Peggy Philippe¹⁸, Muriel Piperno¹⁹, Bernard Combe²⁰, Olivier Lambotte²¹, Christophe Richez²², Jeremie Sellam²³, Thomas Sené²⁴, Guillaume Denis²⁵, Thierry Lequerre²⁶, Xavier Mariette²⁷ and Gaetane Nocturne¹³, ¹Sorbonne Université, Institut Pierre Louis d'Epidémiologie et de Santé Publique, UMR S1136, Paris, France, Paris, France, ²Rheumatology Department, Bicetre Hospital, APHP, France, Paris, France, ³Université de Paris, Service de Rhumatologie Hôpital Bichat-Claude Bernard, AP-HP, Paris, Ile-de-France, France, ⁴Rheumatology Department, Toulouse University Hospital, Toulouse, France, ⁵CIC biotherapies, Besançon University Hospital, Besançon, France, ⁶Hematology Department, Brive La Gaillarde Hospital, Brive la Gaillarde, France, ⁷Rheumatology Department, Angers University Hospital, Angers, France, ⁸Rheumatology Department, Brest University Hospital, Brest, France, ⁹CHU Gabriel Montpied, Clermont-Ferrand, France, ¹⁰Department of medicine, rheumatology and neurology, Hopale hospital, Berck, France, ¹¹Rheumatology Department, Bichat hospital, APHP, Paris, France, ¹²Rheumatology Department, Amiens University Hospital, Amiens, France, ¹³Rheumatology Department, Bicetre Hospital, APHP, France, Le Kremlin-Bicêtre, France, ¹⁴Internal Medicine Department, Saint-Antoine hospital, APHP, Paris, France, ¹⁵CHU Tours, department of rheumatology, Tours, France, ¹⁶Rheumatology Department, Strasbourg University Hospital, Strasbourg, France, ¹⁷Sorbonne University, INSERM, IPLES; Pitié-Salpêtrière Hospital, Paris, Ile-de-France, France, ¹⁸Rheumatology Department, Lille University Hospital, Lille, France, ¹⁹Rheumatology Department, Lyon University Hospital, Lyon, France, ²⁰University of Montpellier, Montpellier, France, ²¹Internal Medicine Department, Bicetre Hospital, APHP, Le Kremlin-Bicêtre, France, ²²Rheumatology Hospital, Pelligrin Hospital, Bordeaux University Hospital, Bordeaux, France, ²³AP-HP, Hôpital Saint-Antoine, Service de Rhumatologie, Centre de Recherche Saint-Antoine, INSERM UMR_S 938,Sorbonne Université, Paris, 75012, France, Paris, France, ²⁴Department of internal medicine, Diaconesses-Croix Saint-Simon Hospital, Paris, France, ²⁵Hematology Department, Rochefort Hospital, Rochefort, France, ²⁶Rheumatology, University Teaching Hospital, Rouen, France, ²⁷Paris-Sud University, Rueil-Malmaison, France
Background/Purpose: Rheumatoid arthritis (RA) is associated with an increased risk of non-Hodgkin B-cell lymphoma (B-cell NHL). The objectives of this work were:To study the characteristics of…
Abstract Number: 1158 • ACR Convergence 2020
Clinical Features and Outcomes in STING-Associated Vasculopathy with Onset in Infancy (SAVI)
Sofia Torreggiani¹, Sara Alehashemi², Jacob Mitchell¹, Gema Souto Adeva¹, Bin Lin¹, Jenna Wade¹, Gina Montealegre Sanchez³, Abdulrahman Alrasheed⁴, Sibel Balci⁵, Roberta Berard⁶, Borzutzky Arturo⁷, Jürgen Brunner⁸, Bjoern Buehring⁹, Al Adba Buthaina¹⁰, Caterina Cancrini¹¹, John Carter¹², Mireia Corbeto Lopez¹³, Fabrizio De Benedetti¹⁴, Huy Do¹⁵, Gregor Dueckers¹⁶, Les Folio¹⁵, Antonella Insalaco¹⁷, Rabia Miray Kisla Ekinci⁵, Michael Miller¹⁸, Marco Montes Cano¹⁹, Marie-Paule Morin²⁰, Seza Ozen²¹, Lucia Pacillo¹¹, Suzanne Ramsey²², Adam Reinhardt²³, Dax Rumsey²⁴, Laisa Santiago²⁵, Grant Schulert²⁶, Benjamin Wright²⁷, Adriana de Jesus²⁸ and Raphaela Goldbach-Mansky²⁹, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ³NIAID/NIH, Rockville, MD, ⁴King Abdullah Specialized Children Hospital, Riyadh, Riyadh, Saudi Arabia, ⁵Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, Turkey, ⁶London Health Sciences Centre, London, ON, Canada, ⁷Pontificia Universidad Católica de Chile, Santiago, Chile, ⁸Tirol Kliniken, Innsbruck, Innsbruck, Austria, ⁹Rheumazentrum Ruhrgebiet, Ruhr-University-Bochum, Herne, Germany, ¹⁰Sidra Medicine, Doha, Doha, Qatar, ¹¹Unit of Immune and Infectious Diseases, Scientific Institute for Research and Healthcare (IRCCS) Childrens’ Hospital Bambino Gesù, University Department of Pediatrics (DPUO); Department of Systems Medicine, University of Rome Tor Vergata, Roma, Italy, ¹²University of South Florida, Tampa, FL, ¹³Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain, ¹⁴Division of Rheumatology, Laboratory of Immuno-Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ¹⁵Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, ¹⁶Helios Kliniken - Kinderklinik, HELIOS Klinikum Krefeld, Germany, Krefeld, Germany, ¹⁷Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy, Rome, Italy, ¹⁸Feinberg School of Medicine, Northwestern University Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, ¹⁹Hospital Universitario Virgen del Rocío, Sevilla, Sevilla, Spain, ²⁰Université de Montréal, CHU Sainte-Justine, Montréal, Canada, ²¹Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ²²IWK Health Centre, Dalhousie University, Halifax, NS, Canada, ²³Boys Town National Research Hospital, Omaha, Omaha, NE, ²⁴Alberta Health Services – Edmonton Zone (Stollery Children’s Hospital), University of Alberta, Edmonton, AB, Canada, ²⁵Johns Hopkins All Children's Hospital, St. Petersburg, FL, ²⁶PRCSG, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ²⁷Mayo Clinic, Phoenix, AZ, ²⁸Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ²⁹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is an autoinflammatory interferonopathy caused by gain-of-function mutations in STING1, characterized by peripheral vasculopathy and interstitial lung…
Abstract Number: 1954 • ACR Convergence 2020
Genome-wide Association Study of Sjögren’s Syndrome Identifies Ten New Risk Loci
Bhuwan Khatri¹, Tove Ragna Reksten², Kandice Tessneer³, Astrid Rasmussen¹, R. Scofield¹, Simon Bowman⁴, Joel Guthridge¹, Judith James⁵, Lars Ronnblom⁶, Blake Warner⁷, Xavier Mariette⁸, Roald Omdal⁹, Javier Martin¹⁰, Maria Teruel¹⁰, Janicke Liaaen Jensen¹¹, Lara Aqrawi¹¹, Øyvind Palm¹¹, Marie Wahren-Herlenius¹², Torsten Witte¹³, Roland Jonsson¹⁴, Maureen Rischmueller¹⁵, A Darise Farris¹, Marta Alarcon-Riquelme¹⁰, Wan-Fai Ng¹⁶, Kathy Sivils¹, Gunnel Nordmark¹⁷ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University of Bergen, Bergen, Norway, ³Oklahoma Medical Research Foundation, Oklahoma City, ⁴University Hospitals Birmingham, Birmingham, United Kingdom, ⁵Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK, ⁶Uppsala University, Uppsala, Sweden, ⁷National Institute of Dental and Craniofacial Research, Bethesda, ⁸Paris-Sud University, Rueil-Malmaison, France, ⁹University of Oslo, Stavanger, Norway, ¹⁰Center for Genomics and Oncological Research (GENYO), Granada, Spain, ¹¹University of Oslo, Oslo, Norway, ¹²Karolinska Institute, Stockholm, Sweden, ¹³Medizinische Hochschule Hannover, Klinik für Rheumatologie und Immunologie und Regionales Kooperatives Rheumazentrum Niedersachsen e.V., Hannover, Germany, ¹⁴Haukeland University Hospital, Bergen, Norway, ¹⁵The Queen Elizabeth Hospital and Univ of Adelaide, St Peters, South Australia, Australia, ¹⁶Newcastle University, Gateshead, United Kingdom, ¹⁷Uppsala University, Copenhagen S, Sweden
Background/Purpose: Sjögren’s syndrome (SS) is a complex autoimmune disease with exocrine gland dysfunction leading to substantial morbidity, and 10 published genetic susceptibility loci. Our genome-wide…
Abstract Number: 0288 • ACR Convergence 2020
Targeted Sequencing Revealed Novel Candidate Genetic Contributions to Lupus Nephritis in a Cohort of Swedish Patients with Systemic Lupus Erythematosus
Sule Yavuz¹, Pascal Pucholt², Dag Leonard², Juliana Imgenberg-Kreuz², Matteo Bianchi², Johanna Sandling², Iva Gunnarsson³, Swedish Sle Network² and Lars Ronnblom², ¹Uppsala University Rheumatology, Doral, FL, ²Uppsala University, Uppsala, Sweden, ³Karolinska Institute, Stockholm, Sweden
Background/Purpose: Lupus nephritis (LN) is a common debilitating manifestation of Systemic Lupus Erythematosus (SLE). Despite improved understanding of underlying mechanisms driving to LN and early…
Abstract Number: 1164 • ACR Convergence 2020
Frequency of Genetic Diagnosis in an Autoinflammatory Disease Natural History Protocol Cohort of Patients
Katelin R. Honer¹, Kim Johnson¹, Gema Souto Adeva¹, Gina Montealegre Sanchez², Jenna Wade³, Jacob Mitchell¹, Katherine Townsend³, Adriana de Jesus⁴ and Raphaela Goldbach-Mansky⁵, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Rockville, MD, ³Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ⁵Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: Monogenic autoinflammatory diseases (AID) are caused by innate immune dysregulation resulting in systemic inflammation and variable organ-specific clinical manifestations. The Translational Autoinflammatory Disease Section…
Abstract Number: 1955 • ACR Convergence 2020
High-throughput Identification of Functional Regulatory SNPs Associated with Systemic Lupus Erythematosus
Qiang Wang¹, Marta Martínez², Matthew Weirauch³ and Peter Nigrovic⁴, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Boston, ³Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA, Boston
Background/Purpose: Systemic lupus erythematosus (SLE) is a disease involves the complex interplay of many genes, reflected in more than one hundred loci linked with disease…
Abstract Number: 0295 • ACR Convergence 2020
CCL3L3–null Status May Predispose to Systemic Lupus Erythematosus and Non-scarring Alopecia
Eunyoung Lee¹, Young-Ho Kim², Hye Won Sim², Eun-Kyung Kang², Yoon-Ho Won², Esther Park², Yeong-Wook Song³ and Kyeong-Man Hong², ¹Seoul National University Hospital, Seoul, Republic of Korea, ²National Cancer Center, Ilsan, Kyonggi-do, Republic of Korea, ³Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea, Seoul, Korea, Republic of Korea
Background/Purpose: The correlation between the copy number variation of CCL3L1 and susceptibility to systemic lupus erythematosus (SLE), rheumatoid arthritis, Kawasaki disease, and HIV infection has…
Abstract Number: 1166 • ACR Convergence 2020
Use of Rituximab to Treat COPA Syndrome: A Multi-Institutional Cohort
Leigh Stubbs¹, Isabella Osuna², Tarin Bigley³, Michal Cidon⁴, Kristen Mengwasser⁵, Simon Helfgott⁶, Marietta DeGuzman⁷, Manuel Silva-Carmona⁸ and Tiphanie Vogel⁹, ¹Baylor College of Medicine, Houston, TX, ²Department of Pediatrics, Division of Rheumatology, Baylor College of Medicine and Texas Children’s Hospital, Houston, Texas, USA, Houston, TX, ³Washington University in St. Louis, Saint Louis, MO, ⁴CHLA, Los Angeles, CA, ⁵Department of Medicine, Division of Rheumatology, Immunology, and Allergy, Harvard Medical School and Brigham and Women’s Hospital, Boston, Massachusetts, USA, Boston, MA, ⁶BWH- HMS, Boston, MA, ⁷Baylor College of Medicine, Houston, ⁸Department of Pediatrics, Division of Pulmonology Medicine, Baylor College of Medicine and Texas Children’s Hospital, Houston, Texas, USA, Houston, TX, ⁹Baylor College of Medicine/Texas Children's Hospital, Houston, TX
Background/Purpose: Coatomer protein complex subunit α (COPA) syndrome is a rare genetic multisystem autoimmune disorder inherited in an autosomal dominant manner. Onset typically occurs in…
Abstract Number: 1956 • ACR Convergence 2020
Dysregulated Expression of the Long Non-coding RNA, LINC01871, Implicated in Sjögren’s Syndrome Pathogenesis
Michelle Joachims¹, Bhuwan Khatri¹, Kandice Tessneer², Anna Stolarczyk¹, Graham Wiley¹, Astrid Rasmussen¹, Joel Guthridge¹, Judith James³, R. Scofield¹, Kathy Sivils¹, Indra Adrianto⁴ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Oklahoma Medical Research Foundation, Oklahoma City, ³Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK, ⁴Henry Ford Health System, Detroit, MI
Background/Purpose: Sjögren’s syndrome (SS) is an autoimmune disease characterized by inflammatory destruction of the exocrine glands. Long non-coding RNAs (lncRNAs) are a functionally diverse class…

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