Abstracts tagged "genetics"

Abstract Number: 1860 • ACR Convergence 2020
An Integrative Approach to Identify Heritable and De Novo Genomic Variations in Psoriatic Arthritis Mutilans and Understand Its Systems Biology
Sara Rahmati¹, Quan Li¹, Dafna Gladman², Proton Rahman³ and Vinod Chandran², ¹University Health Network, Toronto, ON, Canada, ²Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ³Memorial University of Newfoundland, Department of Medicine, St John's, Canada
Background/Purpose: Psoriasis is a chronic autoimmune skin disease that burdens ~3% of North Americans. ~24% of psoriatic patients develop psoriasis arthritis (PsA), an inflammatory disease…
Abstract Number: 0034 • ACR Convergence 2020
Gene Expression Signatures in C-Reactive Protein High and Low Rheumatoid Arthritis
Adam Cornish¹, Kristin Wipfler¹ and Kaleb Michaud², ¹FORWARD, The National Databank for Rheumatic Diseases, Omaha, NE, ²University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Transcriptome profiling has expanded our ability to identify biomarkers and therapeutic targets and better understand disease progression in a wide variety of conditions. Serum…
Abstract Number: 0790 • ACR Convergence 2020
Vitamin D Polygenetic Risk Score and the Association with RA Autoantibodies Among First-Degree Relatives of RA Subjects
Elizabeth Bemis¹, Kendra Young², Jennifer Seifert³, Marie Feser⁴, Kevin D. Deane⁵, M Kristen Demoruelle⁶, James O'Dell⁷, Michael Weisman⁸, Peter Gregersen⁹, Richard Keating¹⁰, William Robinson¹¹, Jane Buckner¹², Carl Langefeld¹³, Joel Guthridge¹⁴, Judith James¹⁵, V Michael Holers⁴ and Jill Norris¹⁶, ¹Colorado School of Public Health Anschutz Medical Campus, Aurora, CO, ²University of Colorado Denver, Aurora, CO, ³UC Denver, Littleton, CO, ⁴Division of Rheumatology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO, USA, Colorado, ⁵2 Division of Rheumatology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO, USA, Colorado, ⁶University of Colorado, Denver, CO, ⁷University of Nebraska Medical Center, Omaha, NE, ⁸Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, ⁹5. Feinstein Institute Medical Research and North Shore-Long Island Jewish Health System, Manhasset, NY, ¹⁰Scripps Clinic/Scripps Green Hospital, La Jolla, CA, ¹¹Stanford University, Palo Alto, CA, ¹²Center for Translational Immunology, Benaroya Research Institute at Virginia Mason, Seattle, WA, ¹³Wake Forest School of Medicine, Winston Salem, NC, ¹⁴Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹⁵Oklahoma Medical Research Foundation, Oklahoma City, ¹⁶Department of Epidemiology, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA, Colorado
Background/Purpose: Rheumatoid arthritis (RA) is a complex autoimmune disease whose etiology remains largely unknown. Vitamin D has been widely studied due to its association with…
Abstract Number: 1862 • ACR Convergence 2020
Genetic Influences on Occurrence of Axial Spondyloarthritis (axSpA) in First-degree Relatives During a Prospective Study Lasting 35 Years
Muhammad Khan¹, Sjef van der Linden², Peter Villiger³, Zhixiu Li⁴, Mohammad Khan⁵, Heinz Baumberger⁶, Hermine Zandwijk⁷ and Matthew Brown⁸, ¹Case Western Reserve University, Cleveland OH, Westlake, OH, ²Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Bern, Switzerland, Mortroux, Belgium, ³Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Switzerland, Bern, Switzerland, ⁴Queensland 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, ⁵Kent State University, Kent, OH, ⁶Retired, Flims, Tajikistan, ⁷Retired, Mortroux, Belgium, ⁸Guy'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
Background/Purpose: To investigate the recurrence rate (RR) of ankylosing spondylitis (AS) over a lifespan, probands with clinically diagnosed AS and their first-degree relatives (FDRs) were…
Abstract Number: 0039 • ACR Convergence 2020
Identification of a Regulatory Pathway Governing Expression of TRAF1 via a JIA-associated Non-coding Variant
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: Over the past decade, genome-wide association studies (GWAS) have identified TRAF1/C5 locus as a risk locus for rheumatoid diseases including RA and JIA(Plenge, Seielstad…
Abstract Number: 0982 • ACR Convergence 2020
Genetics of Avascular Necrosis in Children and Adults with Systemic Lupus Erythematosus
Declan Webber¹, JingJing Cao², Daniela Dominguez³, Dafna Gladman⁴, Andrea Knight⁵, Deborah Levy¹, Lawrence Ng⁶, Andrew Paterson², Zahi Touma⁷, Murray Urowitz⁸, Joan Wither⁹, Earl D. Silverman¹⁰ and Linda Hiraki¹¹, ¹Division of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ²Genetics & Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada, ³Division of Rheumatology, The Hospital for Sick Children, Toronto, Canada, ⁴Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ⁵Division of Rheumatology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, ON, Canada, ⁶Division of Rheumatology, Hospital for Sick Children, Toronto, Canada, ⁷University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University Health Network; Krembil Research Institute, Toronto, ON, Canada, ⁸University Health Network, University of Toronto, Toronto, ON, Canada, ⁹University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University Health Network, Toronto, ON, Canada, ¹⁰Division of Rheumatology, The Hospital for Sick Children, Translational Medicine, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada, ¹¹Division of Rheumatology, The Hospital for Sick Children, Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto., Toronto, ON, Canada
Background/Purpose: Genetics have been shown to contribute to risk of avascular necrosis (AVN), a debilitating complication of systemic lupus erythematosus (SLE). Our aim was to…
Abstract Number: 1875 • ACR Convergence 2020
Heterogeneity Amongst Men and Women with Ankylosing Spondylitis and Non-Radiographic Axial Spondyloarthritis
Zhixiu Li¹, Muhammad Khan², Mohammad Khan³, Peter Villiger⁴, Heinz Baumberger⁵, Hermine Zandwijk⁶, Sjef van der Linden⁷ and Matthew Brown⁸, 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, ²Case Western Reserve University, Cleveland OH, Westlake, OH, ³Kent State University, Kent, OH, ⁴Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Switzerland, Bern, Switzerland, ⁵Retired, Flims, Tajikistan, ⁶Retired, Mortroux, Belgium, ⁷Department of Rheumatology, Immunology and Allergology, University of Bern, Inselspital, Bern, Switzerland, Mortroux, Belgium, ⁸Guy'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
Background/Purpose: Axial spondyloarthritis (axSpA) includes both ankylosing spondylitis (AS) and non-radiographic axial disease (nr-axSpA). Our purpose was to investigate genetic heterogeneity of clinically diagnosed axSpA.Methods:…
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…

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