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Abstracts tagged "Autoinflammatory diseases"

  • Abstract Number: 1152 • ACR Convergence 2022

    A Novel Serological Biomarker Measuring a Fragment of Cartilage Intermediate Layer Protein 1 Is Highly Upregulated in Rheumatic Diseases

    Helena Port1, Walter P Maksymowych2, Morten Karsdal3, Anne-Christine Bay-Jensen3 and Signe Holm Nielsen3, 1University of Copenhagen, Copenhagen, Denmark, 2Department of Medicine, University of Alberta, Edmonton, AB, Canada, 3Nordic Bioscience, Herlev, Denmark

    Background/Purpose: A hallmark of rheumatic joint diseases is altered cartilage protein turnover and protein composition. During cartilage erosions, the cartilage intermediate layer protein-1 (CILP-1), is…
  • 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…
  • Abstract Number: 0557 • ACR Convergence 2022

    VEXAS Syndrome Is Characterized by Blood and Tissues Inflammasome Pathway Activation and Monocyte Dysregulation

    Benjamin Terrier1, Celine Posseme2, Marie Temple3, Aurélien Corneau4, Francesco Carbone5, Eugénie Duroyon3, camille Gobeaux3, Estibaliz Lazaro6, Roderau Outh7, Guillaume Le Guenno8, Francois Lifermann9, Marie Berleur10, Thierry Weitten11, Vivien Guillotin12, Cédric Lenormand13, Hang-Korng Ea14, Mickael Ménager5, Darragh Duffy2 and Olivier Kosmider3, 1National Referral Center for Rare Systemic Autoimmune Diseases, Cochin Hospital, Paris, France, 2Institut Pasteur, Paris, France, 3Cochin Hospital, Paris, France, 4Pitié Salpêtrière Hospital, Paris, France, 5Institut Imagine, Paris, France, 6Bordeaux Hospital University, Bordeaux, France, 7CH, Perpignan, France, 8CHU, Clermont-Ferrand, France, 9Dax Hospital, Dax, France, 10CH, Versailles, France, 11CHIGAS, Gap, France, 12CHU Bordeaux, Bordeaux, France, 13CHRU, Strasbourg, France, 14Lariboisière Hospital, Paris, France

    Background/Purpose: Acquired mutations in the UBA1 gene, occurring in myeloid cells and resulting in expression of a catalytically impaired isoform of the enzyme E1, were…
  • Abstract Number: 1153 • ACR Convergence 2022

    Differentially Expressed Genes in Males and Females with Ankylosing Spondylitis (AS): Transcriptomics of IL-17-producing Cells in Patients with AS

    Chan Mi Lee1, Ricky Chan2, Maricela Haghiac3 and Marina Magrey4, 1University Hospitals, Cleveland, OH, 2Case Western Reserve University, Cleveland, OH, 3Metrohealth Medical Center, Cleveland, OH, 4Case Western Reserve University, University Hospitals, Richfield, OH

    Background/Purpose: Unlike most autoimmune diseases, ankylosing spondylitis (AS) is more frequently diagnosed in men (3:1) and with a higher radiographic progression compared to women. Th17…
  • Abstract Number: 1851 • ACR Convergence 2022

    Phenotype and Genotype of Adult-onset Adenosine Deaminase 2 Deficiency Patients

    Beibei Zu1, rongrong wang2, Xiaorou Wang3, Bingqing Zhang4, Na Xu4, Chengjin Huang4, Min Shen5 and Xuejun Zeng4, 1Department of Rheumatology, Xuzhou Central Hospital, XuZhou, China, 2Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China, 3Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, Beijing, China, 4Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, 5Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China

    Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease, characterized by early‑onset vasculopathy, fever, strokes, livedoid rash, hepatosplenomegaly, and hematologic dysfunction,…
  • Abstract Number: 0563 • ACR Convergence 2022

    High-Dimensional Immunophenotyping with Mass Cytometry Reveals Unique Immune Cell Aberrations in Patients with Undiagnosed Inflammatory and Autoimmune Diseases

    Alisa Mueller1, Takanori Sasaki2, Joshua Keegan1, Jennifer Nguyen1, Alec Griffith1, Elizabeth Feig1, Alice Horisberger3, Ye Cao1, Gregory Keras1, Lauren Briere4, Laurel Cobban1, Daimon Simmons1, Juan Pallais1, Jeffrey Sparks2, V. Michael Holers5, Undiagnosed Diseases Network1, David Sweetser4, Joel Krier1, Joseph Loscalzo1, James Lederer1 and Deepak Rao1, 1Brigham and Women's Hospital, Boston, MA, 2Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 3Harvard Medical School and Lausanne University Hospital, Boston, MA, 4Massachusetts General Hospital, Boston, MA, 5University of Colorado, Denver, CO

    Background/Purpose: Few tools are available to evaluate the immune dysregulation in patients with severe autoimmune or inflammatory conditions that do not conform to well-defined rheumatologic…
  • Abstract Number: 1208 • ACR Convergence 2022

    Development and Validation of a Prognostic Model for Methotrexate Discontinuation with Abnormal Monitoring Blood-test Results: A Cohort Study Using Data from Clinical Practice Research Datalink Gold and Aurum

    Georgina Nakafero1, Matthew J. Grainge1, Tim Card1, Maarten W Taal1, Guruprasad P Aithal1, Christopher P Fox2, Christian Mallen3, Danielle van der Windt3, Richard Riley3 and Abhishek Abhishek1, 1University of Nottingham, Nottingham, United Kingdom, 2Nottingham University Hospital NHS Trust, Nottingham, United Kingdom, 3Keele University, Keele, United Kingdom

    Background/Purpose: Patients established on long-term low-dose weekly methotrexate treatment undergo 3-monthly monitoring blood-tests to facilitate early detection of drug-related adverse events. Regular testing may not…
  • Abstract Number: 1853 • ACR Convergence 2022

    A Comparitive Study of NLRP3- and NLRP12-autoinflammatory Disease

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

    Background/Purpose: NLRP3-associated autoinflammatoy disease (NLRP3-AID) and NLRP12-AID are rare autosomal dominant diseases. FACS1(familial cold autoinflammatory syndrome type 1), a subset of NLRP3-AID, is thought to…
  • Abstract Number: 0189 • ACR Convergence 2021

    Tapering and Discontinuation of Background Therapies During the Transition to Rilonacept Monotherapy in RHAPSODY, a Phase 3 Clinical Trial of Rilonacept in Patients with Recurrent Pericarditis

    Antonio Brucato1, Alistair Wheeler2, Sushil A. Luis3, Antonio Abbate4, Paul Cremer5, Fang Fang6, Antonella Insalaco7, Martin LeWinter8, Basil S. Lewis9, David Lin10, Stephen J. Nicholls11, Allan Klein5, Massimo Imazio12 and John F Paolini6, 1Department of Biomedical and Clinical Science, University of Milano, Fatebenefratelli Hospital, Milan, Italy, 2Kiniksa Pharmaceuticals, Ltd., Hamilton, Bermuda, 3Division of Cardiovascular Ultrasound, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, NY, 4VCU Pauley Heart Center, Virginia Commonwealth University, Richmond, VA, 5Department of Cardiovascular Imaging, Center for the Diagnosis and Treatment of Pericardial Diseases, Heart and Vascular Institute, Cleveland Clinic, Cleveland, OH, 6Kiniksa Pharmaceuticals Corp., Lexington, MA, 7Department of Pediatric Medicine, Division of Rheumatology, Bambino Gesù Children's Hospital, Rome, Italy, 8Cardiology Unit, The University of Vermont Medical Center, The University of Vermont, Burlington, VT, 9Cardiovascular Clinical Research Institute, Lady Davis Carmel Medical Center, Haifa, Israel, 10Minneapolis Heart Institute at Abbott Northwestern Hospital, Minneapolis, MN, 11MonashHeart, Department of Cardiology, Monash University, Clayton, Australia, 12University Cardiology, Cardiovascular and Thoracic Department, AOU Città della Salute e della Scienza di Torino, Torino, Italy

    Background/Purpose: Post-episode tapering of Standard of Care (SoC) medication in patients with recurrent pericarditis (RP) varies considerably. Gradual tapering of corticosteroids (CS) is recommended in…
  • Abstract Number: 1106 • ACR Convergence 2021

    Phenotypes and Genotypes of NLRP3-AID in Chinese Adult Patients

    Na Wu, Di Wu, Junke Miao, Mengzhu Zhao and Min Shen, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China (People's Republic)

    Background/Purpose: NLRP3-associated autoinflammatory disease (NLRP3-AID, OMIM 606416), previously called cryopyrin-associated periodic syndrome (CAPS), is a spectrum of autosomal dominant inherited diseases associated with NLRP3 gene…
  • Abstract Number: 0190 • ACR Convergence 2021

    Long-term Safety of Canakinumab in Patients with Autoinflammatory Periodic Fever Syndromes – Interim Analysis of the RELIANCE Registry

    Jasmin Kuemmerle-Deschner1, Jorg Henes2, Birgit Kortus-Goetze3, Tilmann Kallinich4, Prasad T. Oommen5, Juergen Rech6, Frank Weller-Heinemann7, Gerd Horneff8, Ivan Foeldvari9, Aleš Janda10, Catharina Schuetz11, Frank Dressler12, Michael Borte13, Markus Hufnagel14, Axel Braner15, Florian Meier16, Michael Fiene17, Julia Weber-Arden18 and Norbert Blank19, 1Pediatric Rheumatology and Autoinflammatory Reference Center, University Children's Hospital Tuebingen, Tuebingen, Germany, 2University Hospital Tuebingen, Tuebingen, Germany, 3Division of Nephrology, University of Marburg, Marburg, Germany, 4Charité University Medicine, Nuremberg, Germany, 5Clinic of Pediatric Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, 6Friedrich-Alexander University (FAU) Erlangen-Nuernberg and Universitaetsklinikum Erlangen, Department of Internal Medicine 3 - Rheumatology and Immunology, Germany, Erlangen, Germany, 7Klinikum Bremen-Mitte, Prof. Hess Kinderklinik, Bremen, Germany, 8Paediatric Rheumatology International Trials Organisation (PRINTO), Sankt Augustin, Germany, 9Hamburger Zentrum fuer Kinder- und Jugendrheumatologie, Hamburg, Germany, 10Department of Pediatrics, University Hospital Ulm, Ulm, Germany, 11Pediatrics, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany, 12Division of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany, 13ImmunoDeficiencyCenter Leipzig (IDCL), Hospital St. Georg gGmbH Leipzig, Leipzig, Germany, 14Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Hospital Medical Center Freiburg, Medical Faculty, University of Freiburg, Freiburg, Germany, 15Department of Medicine II, Rheumatology, University Hospital Frankfurt, Germany, Frankfurt a.M., Germany, 161 Division of Rheumatology, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany 2 Fraunhofer Institute for Molecular Biology and Applied Ecology IME, Project Group Translational Medicine and Pharmacology TMP, Frankfurt am Main, Germany, Frankfurt a.M., Germany, 17Department of Internal Medicine, District Hospital Demmin, Demmin, Germany, 18Novartis Pharma GmbH, Nuremberg, Germany, 19Rheumatology, University Hospital Heidelberg, Eppelheim, Germany

    Background/Purpose: Autoinflammatory periodic fever syndromes (PFS) are characterized by severe systemic and organ inflammation. In clinical trials, successful treatment was achieved with the interleukin-1β inhibitor…
  • Abstract Number: 1107 • ACR Convergence 2021

    Clinical and Genetic Features of Chinese Adult Patients with Chronic Non-bacterial Osteomyelitis: A Single Center Report

    Mengzhu Zhao, Min Shen, Di Wu and Keyi Yu, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China (People's Republic)

    Background/Purpose: Chronic non-bacterial osteomyelitis (CNO) is a rare polygenic autoinflammatory bone disease. CNO has been seldom reported in the Chinese population. We aimed to characterize…
  • Abstract Number: 0191 • ACR Convergence 2021

    Influence of Canakinumab Dosing on Long-term Efficacy and Safety in Patients with Cryopyrin-associated Periodic Syndromes (CAPS) – 30-months Interim Analysis of the RELIANCE Registry

    Jasmin Kuemmerle-Deschner1, Birgit Kortus-Goetze2, Prasad T. Oommen3, Aleš Janda4, Juergen Rech5, Tilmann Kallinich6, Frank Weller-Heinemann7, Gerd Horneff8, Ivan Foeldvari9, Catharina Schuetz10, Michael Borte11, Axel Braner12, Julia Weber-Arden13 and Norbert Blank14, 1Pediatric Rheumatology and Autoinflammatory Reference Center, University Children's Hospital Tuebingen, Tuebingen, Germany, 2Division of Nephrology, University of Marburg, Marburg, Germany, 3Clinic of Pediatric Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, 4Department of Pediatrics, University Hospital Ulm, Ulm, Germany, 5Friedrich-Alexander University (FAU) Erlangen-Nuernberg and Universitaetsklinikum Erlangen, Department of Internal Medicine 3 - Rheumatology and Immunology, Germany, Erlangen, Germany, 6Charité University Medicine, Nuremberg, Germany, 7Klinikum Bremen-Mitte, Prof. Hess Kinderklinik, Bremen, Germany, 8Paediatric Rheumatology International Trials Organisation (PRINTO), Sankt Augustin, Germany, 9Hamburger Zentrum fuer Kinder- und Jugendrheumatologie, Hamburg, Germany, 10Pediatrics, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany, 11ImmunoDeficiencyCenter Leipzig (IDCL), Hospital St. Georg gGmbH Leipzig, Leipzig, Germany, 12Department of Medicine II, Rheumatology, University Hospital Frankfurt, Germany, Frankfurt a.M., Germany, 13Novartis Pharma GmbH, Nuremberg, Germany, 14Rheumatology, University Hospital Heidelberg, Eppelheim, Germany

    Background/Purpose: The IL-1 inhibitor canakinumab (CAN) induces rapid remission of symptoms of CAPS (Cryopyrin-associated periodic syndromes), a monogenic autoinflammatory disease with severe systemic inflammation, both…
  • Abstract Number: 1110 • ACR Convergence 2021

    Cryopyrin-associated Periodic Syndromes: GOSH and National Amyloidosis Centre Experience

    Ovgu Kul Cinar1, Charalampia Papadopoulou2, Amber Putland1, Karen Wynne1, Helen J Lachmann3, Despina Eleftheriou4 and Paul A. Brogan4, 1Great Ormond Street Hospital NHS Trust, London, United Kingdom, 2UCL Institute of Child Health, and Great Ormond Street Hospital NHS Foundation Trust, Infection, Immunology, and Rheumatology, London, United Kingdom, 3National Amyloidosis Centre, Royal Free Campus, UCL Medical School, London, United Kingdom, 4Great Ormond Street Hospital NHS Trust, UCL GOS Institute of Child Health, Department of Infection, Immunity & Inflammation, London, United Kingdom

    Background/Purpose: CAPS is a rare, heterogenous inflammasomopathy associated with gain-of-function mutations in NLRP3 that encodes cryopyrin. Mutations in NLRP3 result in excessive IL-1ß production that…
  • Abstract Number: 0192 • ACR Convergence 2021

    Influence of Canakinumab Dosing on Efficacy and Safety of Long-term Treatment in Patients with Familial Mediterranean Fever – Interim Analysis of the RELIANCE Registry

    Jorg Henes1, Norbert Blank2, Tilmann Kallinich3, Frank Dressler4, Gerd Horneff5, Ivan Foeldvari6, Markus Hufnagel7, Birgit Kortus-Goetze8, Frank Weller-Heinemann9, Florian Meier10, Julia Weber-Arden11 and Jasmin Kuemmerle-Deschner12, 1University Hospital Tuebingen, Tuebingen, Germany, 2Rheumatology, University Hospital Heidelberg, Eppelheim, Germany, 3Charité University Medicine, Nuremberg, Germany, 4Division of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany, 5Paediatric Rheumatology International Trials Organisation (PRINTO), Sankt Augustin, Germany, 6Hamburger Zentrum fuer Kinder- und Jugendrheumatologie, Hamburg, Germany, 7Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Hospital Medical Center Freiburg, Medical Faculty, University of Freiburg, Freiburg, Germany, 8Division of Nephrology, University of Marburg, Marburg, Germany, 9Klinikum Bremen-Mitte, Prof. Hess Kinderklinik, Bremen, Germany, 101 Division of Rheumatology, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany 2 Fraunhofer Institute for Molecular Biology and Applied Ecology IME, Project Group Translational Medicine and Pharmacology TMP, Frankfurt am Main, Germany, Frankfurt a.M., Germany, 11Novartis Pharma GmbH, Nuremberg, Germany, 12Pediatric Rheumatology and Autoinflammatory Reference Center, University Children's Hospital Tuebingen, Tuebingen, Germany

    Background/Purpose: Familial Mediterranean Fever (FMF) is characterized by severe systemic and organ inflammation. Successful treatment with rapid remission of symptoms and normalization of laboratory parameters…
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