ACR Meeting Abstracts

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Abstracts tagged "Autoinflammatory diseases"

  • Abstract Number: 2221 • ACR Convergence 2022

    The Molecular Endotypes of Type 1 and Type 2 SLE

    Robert Robl1, Amanda Eudy2, Prathyusha Bachali3, Jennifer L Rogers4, Megan Clowse5, David Pisetsky6 and Peter lipsky1, 1AMPEL BioSolutions, Charlottesville, VA, 2Duke University, Raleigh, NC, 3AMPEL BioSolutions, Redmond, WA, 4Duke University School of Medicine, Division of Rheumatology & Immunology, Durham, NC, 5Duke University, Durham, NC, 6Duke University Medical Center, Durham, NC

    Background/Purpose: To characterize the molecular landscape of patients with Type 1 and Type 2 systemic SLE erythematosus (SLE) by analyzing gene expression profiles from peripheral…
  • Abstract Number: 0142 • ACR Convergence 2022

    A Systemic Autoinflammatory Syndrome Caused by NEMO Exon 5 Skipping

    Bin Lin1, Adriana Almeida de Jesus2, Eric Karlins1, Dana Kahle1, Sophia Park3, Andre Rastegar1, Jacob Mitchell4, sofia Torregiani1, Farzana Bhuyan5, Sara Alehashemi6, Kader Cetin Gedik7, Kat Uss8, Eric Hanson9, Amer Khojah10, Eveline Wu11, Christiaan Scott12, Timothy Ronan Leahy13, Emma J. MacDermott13, Orla G. Killeen13, Chyi-Chia Richard Lee14, Thaschawee Arkachaisri15, Zoran Gucev16, Kathryn Cook17, Vafa Mammadova18, Gulnara Nasrullayeva18, Mariana Correia Marques19, Abigail Bosk20, Seza Ozen21, Abigail Lang22, Brian Nolan23, Scott Canna24, Maude Tusseau25, Emilie Chopin25, Guilaine Boursier26, Danielle Fink27, Douglas Kuhns27, Clifton Dalgard28, Alexandre Belot29, Timothy Moran30, Andrew Oler3 and Raphaela Goldbach-Mansky31, 1NIH, Bethesda, MD, 2NIAID, NIH, Silver Spring, MD, 3NIAID, Bethesda, MD, 4NIAID NIH, Bethesda, MD, 5National Institutes of Health, Bethesda, MD, 6NIH/NIAID/TADS, Clarksville, MD, 7Translational Autoinflammatory Diseases Section (TADS)/NIAID/NIH, Bethesda, MD, 8National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 9Indiana University School of Medicine, Indianapolis, IN, 10Umm Al-Qura University, Makkah, Saudi Arabia, 11University of North Carolina, Chapel Hill, NC, 12University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 13CHI at Crumlin, Dublin, Ireland, 14National Cancer Institute, National Institutes of Health, Bethesda, MD, 15KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, 16University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, 17Akron Children's Hospital, Akron, OH, 18Azerbaijan Medical University, Baku, Azerbaijan, 19National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD, 20Children's National Hospital, Washington, DC, 21Hacettepe University Faculty of Medicine, Ankara, Turkey, 22Lurie Children's Hospital, Chicago, IL, 23Ann & Robert H. Lurie Children's Hospital, Chicago, IL, 24Children's Hospital of Philadelphia, Philadelphia, PA, 25Service de Néphrologie, Rhumatologie, Dermatologie Pédiatriques, Centre de Référence des Rhumatismes Inflammatoires et Maladies Auto-Immunes Rares de l'Enfant (RAISE), Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Bron, France, 26Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CEREMAIA, CHU de Montpellier, Univ Montpellier, Montpellier, France, 27National Institute of Allergy and Infectious Diseases, National Institutes of Health, Frederick, MD, 28The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD, 29Hospices Civils de Lyon, Collonges au mont d'or, France, 30University of North Carolina School of Medicine, Chapel Hill, NC, 31NIH/NIAID, Potomac, MD

    Background/Purpose: NF-kB essential modulator (NEMO, encoded by IKBKG) is an essential gene in immune response, development, and cell death regulation. Mutations in NEMO have been…
  • Abstract Number: 0818 • ACR Convergence 2022

    NLRP12-associated Autoinflammatory Disease in Chinese Adult Patients: A Single-center Study

    Junke Miao and Min Shen, Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China

    Background/Purpose: NLRP12-associated autoinflammatory disease (NLRP12-AID) is an autosomal dominant autoinflammatory disorder caused by variants of the NLRP12 gene, which lead to a reduction of the…
  • Abstract Number: 1830 • ACR Convergence 2022

    Characteristics of Arthritis in Familial Mediterranean Fever Patients

    Ali Yagiz Ayla1, Selcan Yenigun2, sura nur baspinar3, Mebrure Burcak Yuzbasioglu2, Arif Alkan3, Ibrahim Durucan3, mert kirman3, baran can polat3, sercan ergun3, Serdal Ugurlu1 and Huri Ozdogan3, 1Istanbul University-Cerrahpaşa, Istanbul, Turkey, 2Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, 3Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey

    Background/Purpose: Arthritis is one of the most common manifestations in an FMF attack. It is usually in the form of acute mono- or oligoarthritis of…
  • Abstract Number: 2247 • ACR Convergence 2022

    Priority Research Topics for Vaccine Uptake Among Adults with Autoimmune Conditions

    Shilpa Venkatachalam1, William Benjamin Nowell2, Shubhasree Banerjee3, Kelly Gavigan4, Laura Stradford2, Jennifer Gordon5, Lisa Emerich6, Hope Sullivan7, Ashira Blazer8, Brittany Banbury9, Vandana Dronadula1, Kimberly Weaver10, Angela Degrassi4, Peter Merkel3, Robert McBurney11, Mike Kappelman10, Jeffrey Curtis12 and Michael George3, 1Global Healthy Living Foundation, New York, NY, 2Global Healthy Living Foundation, Nyack, NY, 3University of Pennsylvania, Philadelphia, PA, 4Global Healthy Living Foundation, Upper Nyack, NY, 5Vasculitis Foundation, Philadelphia, 6iConquerMS, Waltham, MA, 7Inflammatory Bowel Disease (IBD) Partners, Chapel Hill, NC, 8Hospital for Special Surgery, New York, NY, 9NYU Langone, Fort Lee, NJ, 10School of Medicine, University of North Carolina (UNC), Chapel Hill, NC, 11Accelerated Cure Project for Multiple Sclerosis, Waltham, MA, 12University of Alabama at Birmingham, Hoover, AL

    Background/Purpose: Compared to the general population, adults living with autoimmune disease are at nearly twice the risk of vaccine-preventable infections, making this a high priority…
  • Abstract Number: 0148 • ACR Convergence 2022

    Dysferlin Associated Autoinflammatory Disease Causing Systemic Inflammation and Sterile Lung Abcesses Through Impaired Efferocytosis

    Farzana Bhuyan1, Adriana Almeida de Jesus2, Clinton Bradfield3, Mohammad Arif Rahman4, Andre Rastegar3, sundar ganesan3, Sachin Gaurav3, Sara Alehashemi3, Ronit Herzog5, Steven Holland3, Deborah Consilini6, Iain Fraser3 and Raphaela Goldbach-Mansky7, 1National Institutes of Health, Bethesda, MD, 2NIAID, NIH, Silver Spring, MD, 3NIAID, Bethesda, MD, 4NCI, Bethesda, MD, 5Langone Medical Center, New York, NY, 6Nemours Children's Hospital-Delaware, Wilmington, DE, 7NIAID, NIH, Rockville

    Background/Purpose: Using whole exome sequencing (WES), we identified a de novo mutation in DYSF encoding dysferlin in 2 unrelated patients with systemic inflammation and sterile…
  • Abstract Number: 0823 • ACR Convergence 2022

    Pulmonary Manifestations in VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome: A Systematic Literature Review

    Koushan Kouranloo1, Athea Ashley2, Sizheng Zhao3 and Mrinalini Dey4, 1Liverpool University Hospitals NHS Foundation Trust, Liverpool, United Kingdom, 2School of Medicine, University of Liverpool, Liverpool, United Kingdom, 3University of Manchester, Liverpool, United Kingdom, 4Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, United Kingdom

    Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is a newly described auto-inflammatory disease, characterised by somatic mutation of UBA1 [1]. A consistent feature…
  • Abstract Number: 1834 • ACR Convergence 2022

    Canakinumab Treatment in Familial Mediterranean Fever Patients with Colchicine Resistance: A Single-center Study

    Ibrahim Durucan1, Ali Yagiz Ayla2, Helin Idil Besiroglu1, Arif Alkan1, Oguzhan Selvi1, Huri Ozdogan1 and Serdal Ugurlu2, 1Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey, 2Istanbul University-Cerrahpaşa, Istanbul, Turkey

    Background/Purpose: Recurrent fever and serositis are the hallmarks of Familial Mediterranean fever (FMF). Colchicine is known for yielding high success in disease control by obviating…
  • Abstract Number: 2274 • ACR Convergence 2022

    Factors Associated with Disease Flare Following SARS-CoV-2 Vaccination in People with Inflammatory Rheumatic and Musculoskeletal Diseases – Results from the Physician-Reported EULAR Coronavirus Vaccine (COVAX) Registry

    Bayram Farisoğulları1, Saskia Lawson-Tovey2, Kimme Hyrich3, Laure Gossec4, Loreto Carmona5, Anja Strangfeld6, Elsa Mateus7, Martin Schaefer8, Ana Maria Rodrigues9, Eric Hachulla10, Jose A Gomez-Puerta11, Marta Mosca12, Patrick Durez13, Ludovic Trefond14, Tiphaine Goulenok15, Martina Cornalba16, Emoke Šteňová17, Inita Bulina18, Eva Strakova19, Julija Zepa20, Nicolas Roux21, Olivier Brocq22, Viellard Eric23, Bernd Raffeiner24, Gerd Burmester25, Xavier Mariette26 and Pedro Machado27, 1Hacettepe University Faculty of Medicine Division of Rheumatology, Ankara, Turkey, 2Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, the University of Manchester, Manchester, UK AND National Institute of Health Research Manchester Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom, 3The University of Manchester, Manchester, United Kingdom, 4Sorbonne Université, Paris, France, 5Instituto de Salud Musculoesquelética (InMusc), Madrid, Spain, 6Deutsches Rheuma-Forschungszentrum Berlin, Berlin, Germany, 7EULAR, Lisboa, Portugal, 8German Rheumatism Research Center, Berlin, Germany, 9Reuma.pt, Sociedade Portuguesa de Reumatologia, Lisbon, Portugal, 10University of Lille, LILLE, France, 11Hospital Clínic de Barcelona, Barcelona, Spain, 12Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy, 13Rheumatology, Cliniques Universitaires Saint-Luc – Université catholique de Louvain (UCLouvain) – Institut de Recherche Expérimentale et Clinique (IREC), Brussels, Belgium, 14Université Clermont Auvergne, CHU Clermont-Ferrand, Service de Médecine Interne, Hôpital Gabriel Montpied, INSERM U1071, Clermont-Ferrand, France, 15APHP, Paris, France, 16Dipartimento di Reumatologia e Scienze Mediche, ASST Gaetano Pini-CTO, Milano, Italy, 17University Hospital, Bratislava, Slovakia, 18Center of Rheumatology, Paul Stradins Clinical University hospital, Riga, Latvia, Riga, Latvia, 19Department of Internal Medicine, Faculty Hospital Prešov, Presov, Slovakia, 20Riga Stradins University, Latvia, Pauls Stradins Clinical University Hospital, Centre of Rheumatology, Riga, Latvia, Riga, Latvia, 21Service de Rhumatologie, Hôpital Robert Schuman, Metz, France, 22Rheumatology- CH Princesse Grace, Monaco, Monaco, 23Private practice, St. Malo, France, 24Department of Rheumatology, Central Hospital of Bolzano, Bolzano, Italy, 25Charité University Medicine Berlin, Berlin, Germany, 26Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, 27University College London, London, United Kingdom

    Background/Purpose: To investigate the frequency and factors associated with disease flare following vaccination against SARS-CoV-2 in people with inflammatory/autoimmune rheumatic and musculoskeletal diseases (I-RMD).Methods: The…
  • Abstract Number: 0149 • ACR Convergence 2022

    Autoinflammatory Diseases Associated with NOD2 and Other Concurrent Genetic Mutations

    Hafsa Nomani, Brianne Navetta-Modrov, Mark Yun and QingPing Yao, Stony Brook University, Stony Brook, NY

    Background/Purpose: Systemic autoinflammatoy diseases (SAIDs) are primarily caused by abnormal innate immune response. NOD-like receptors (NLRs) are intracellular sensors to the immune process, including NOD2,…
  • Abstract Number: 0864 • ACR Convergence 2022

    Baseline Clinical and Laboratory Features of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease (SJIA-LD) Cohort

    Esraa Eloseily1, Min-Lee Chang2, MaryEllen Riordan3, Alan Russell4, Marc Natter2, Yukiko Kimura5 and Grant Schulert6, 1Division of Pediatric Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 2Boston Children's Hospital, Boston, MA, 3Hackensack Meridian Health, Hackensack, NJ, 4Duke Clinical Research Institute, Duke, NC, 5Hackensack Meridian Health, New York, NY, 6Cincinnati Children's Hospital Medical Center, Cincinnati, OH

    Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) associated lung disease (SJIA-LD) is an emerging and life threatening clinical problem, and currently affects as many as 1…
  • Abstract Number: 1839 • ACR Convergence 2022

    Appendicitis Still a Challenge for FMF Patients?

    Şura Nur Başpınar1, Arif Alkan2, Mebrure Burcak Yuzbasioglu3, Selcan Yenigun3, Ali Yagiz Ayla4, Ibrahim Durucan2, Mert Candan2, Ali Karabiçek2, Çağrı Belli2, Tuğba Bayraktar2, Helin Idil Besiroglu2, Huri Ozdogan5 and Serdal Ugurlu4, 1İstanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, 2Istanbul University-Cerrahpaşa Medical Faculty, Istanbul, Turkey, 3Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine, Istanbul, Turkey, 4Istanbul University-Cerrahpaşa, Istanbul, Turkey, 5Istanbul University-Cerrahpaşa Medical Faculty Department of Internal Medicine Division of Rheumatology, Istanbul, Turkey

    Background/Purpose: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease that is characterized by recurrent episodes of polyserositis. Episodes typically consist of fever, peritonitis, and…
  • Abstract Number: 0166 • ACR Convergence 2022

    Detection of the Novel Autoantibodies Against Transcription Factor Sp4 Is Related with Low Risk of Cancer in Idiopathic Inflammatory Myopathy Patients

    Yuji Hosono1, Azusa Kojima1, Akira Ishii1, Mai Sugiyama1, Yuto Izumi1, Noriko Sasaki2, Chiho Yamada1 and Shinji Sato1, 1Tokai University School of Medicine, Isehara Kanagawa, Japan, 2Tokai University School of Medicine, sagamihara-city, Japan

    Background/Purpose: In idiopathic inflammatory myopathy (IIM), many kinds of autoantibodies are often detected and associated with each clinical phenotype. Recently, autoantibody against transcription factor Sp4…
  • Abstract Number: 1107 • ACR Convergence 2022

    Efficacy and Safety of Tofacitinib in Patients with Polymyalgia Rheumatica (EAST PMR): A Prospective Study

    Xinlei Ma, Fan Yang, Jin Lin and Weiqian Chen, Division of Rheumatology, the First Affiliated Hospital, Zhejiang University School of Medicine, HangZhou, China

    Background/Purpose: Polymyalgia Rheumatica (PMR) is a common inflammatory disease in elderly persons whose pathogenesis is unclear. Glucocorticoids are the first-line drugs for patients with PMR,…
  • Abstract Number: 1842 • ACR Convergence 2022

    Vaccination in Patients with Autoinflammatory Periodic Syndromes Under Canakinumab – Safety Data Interim Analysis of the RELIANCE Registry

    Jasmin B. Kuemmerle-Deschner1, Joerg Henes2, Birgit Kortus-Goetze3, Tilmann Kallinich4, Prasad T. Oommen5, Juergen Rech6, Tobias Krickau7, Frank Weller-Heinemann8, Gerd Horneff9, Ales Janda10, Ivan Foeldvari11, Catharina Schuetz12, Frank Dressler13, Michael Borte14, Markus Hufnagel15, Florian Meier16, Michael Fiene17, Julia Weber-Arden18 and Norbert Blank19, 1Department of Pediatrics, Division of Pediatric Rheumatology, University Hospital Tübingen, Tübingen, Germany, 2Center for Interdisciplinary Clinical Immunology, Rheumatology and Auto-inflammatory Diseases (INDIRA), University Hospital Tübingen, Tübingen, Germany, 3Division of Nephrology, University of Marburg, Marburg, Germany, 4Charité - Universitätsmedizin Berlin, Nuremberg, Germany, 5Clinic of Pediatric Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, 6University Clinic Erlangen, Erlangen, Germany, 7Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Pediatrics, Erlangen, Germany, 8Klinikum Bremen-Mitte, Prof. Hess Kinderklinik, Bremen, Germany, 9Pediatrics, Asklepios Klinik Sankt Augustin GmbH, Sankt Augustin, Germany, 10Department of Pediatrics, University Hospital Ulm, Ulm, Germany, 11Hamburger Zentrum für Kinder- und Jugendrheumatologie, Hamburg, Germany, 12Pediatrics, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany, 13Division of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany, 14ImmunoDeficiencyCenter Leipzig (IDCL), Hospital St. Georg gGmbH Leipzig, Germany, Leipzig, Sachsen, Germany, 15Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Hospital Medical Center Freiburg, Medical Faculty, University of Freiburg, Freiburg, Germany, 16Division of Rheumatology, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany, and Fraunhofer Institute for Molecular Biology and Applied Ecology IME, Project Group Translational Medicine and Pharmacology TMP, Frankfurt, Germany, 17Rheumatology Center Greifswald, Greifswald, Germany, 18Novartis Pharma GmbH, Nuernberg, Germany, 19Rheumatology, University Hospital Heidelberg, Heidelberg, Germany

    Background/Purpose: Treatment of autoinflammatory periodic syndromes with the interleukin-1β inhibitor canakinumab (CAN) has been shown to be safe and effective in clinical trials and in…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. Academic institutions, private organizations and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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