Abstracts tagged "Autoinflammatory diseases"

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: 0548 • ACR Convergence 2022
Postural Orthostatic Tachycardia Syndrome, Small Fiber Neuropathy, and Systemic Inflammation: Are They Related?
Elizabeth Bettini, Carolyn Ramwell, Sangeeta Sule and Jeffery Moak, Children's National Hospital, Washington, DC
Background/Purpose: Postural Orthostatic Tachycardia Syndrome (POTS) is a dysautonomia associated with chronic autonomic and neuropathic symptoms, including pain in multiple body regions, paresthesia, fatigue, brain…
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: 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: 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: 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: 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: 1930 • ACR Convergence 2022
Assessing the Number of Children Evaluated for Recurrent Fevers During the COVID-19 Pandemic in North America
Leanne Mansfield¹, Sivia Lapidus², Matthew Hollander³, Julie Cherian⁴, Marinka Twilt⁵, Maryam Piram⁶, Lakshmi Moorthy⁷, Brian Nolan⁸, Geraldina Lionetti⁹, Eveline Wu¹⁰, Heather Tory¹¹, Elizabeth Kessler¹², Cassyanne Aguiar¹³, Sirada Panupattanapong¹⁴, Shoghik Akoghlanian¹⁵, Felice Adler-Shohet¹⁶, Melissa Oliver¹⁷, Smriti Mohan¹⁸, Patricia DeLaMora¹⁹, Karen Durrant²⁰, Theresa Wampler Muskardin²¹, Samira Nazzar²², Mariana Correia Marques²³, Matthew Basiaga²⁴, Tiphanie vogel²⁵, Jamie Lai²⁵, Kathryn Edwards²⁶, Kathryn Garguilo²⁶, Sheila Nolan¹⁹, Emily Sheboy Scarcello²⁷, Gabrielle Alonzi²⁸, Ann Szymanski²⁹, Joyce Hui-Yuen³⁰, karen onel³¹, Fatma Dedeoglu³², Maria Gutierrez³³, Grant Schulert³⁴ and CARRA PFAPA/Autoinflammatory Working Group N/A³⁵, ¹Hospital for Special Surgery/Weill Cornell Medicine, New York, NY, ²Joseph M. Sanzari Children's Hospital Hackensack University Medical Center, Montclair, NJ, ³University of Vermont Medical Center Children's Hospital, Burlington, VT, ⁴Renaissance School of Medicine at Stony Brook University, Stony Brook Children’s Hospital, Stony Brook, NY, ⁵Cumming School of Medicine, University of Calgary, Calgary, AB, Canada, ⁶CHU Sainte Justine, University of Montreal, Montréal, QC, Canada, ⁷Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, ⁸Ann & Robert H. Lurie Children's Hospital, Chicago, IL, ⁹UCSF Benioff Children's Hospitals, Oakland, CA, ¹⁰University of North Carolina, Chapel Hill, NC, ¹¹Connecticut Children's Medical Center and University of Connecticut School of Medicine, S Glastonbury, CT, ¹²Spectrum Health Helen DeVos Children's Hospital, Michigan State University, Grand Rapids, MI, ¹³Children’s Hospital of The King’s Daughters / Eastern Virginia Medical School, Norfolk, VA, ¹⁴Cleveland Clinic Children's, Cleveland, OH, ¹⁵Division of Rheumatology, Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, ¹⁶University of California, Irvine and Children’s Hospital of Orange County, Orange, CA, ¹⁷Indiana University School of Medicine, Indianapolis, IN, ¹⁸University of Michigan Medical School, Ann Arbor, MI, ¹⁹Boston Children's Health Physicians, New York Medical College, Valhalla, NY, ²⁰Autoinflammatory Alliance, San Francisco, CA, ²¹Colton Center for Autoimmunity, NYU School of Medicine, New York, NY, ²²University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA, ²³Children's National Health System/National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ²⁴Mayo Clinic, Inver Grove Heights, MN, ²⁵Baylor College of Medicine, Houston, TX, ²⁶Vanderbilt University Medical Center, Nashville, TN, ²⁷Boston Children's Health Physicians, Valhalla, NY, ²⁸Boston Children's Hospital, Boston, MA, ²⁹Johns Hopkins All Children’s Hospital, St. Petersburg, FL, ³⁰Cohen Children’s Medical Center, Hofstra-Northwell School of Medicine, Feinstein Institutes for Medical Research, Queens, NY, ³¹Hospital for Special Surgery, New York, NY, ³²Division of Immunology, Boston Children's Hospital, Boston, MA, ³³Johns Hopkins University School of Medicine, Baltimore, MD, ³⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³⁵CARRA, Washington, DC
Background/Purpose: The impact of the COVID-19 pandemic on the number of pediatric patients evaluated in North America for recurrent fevers and autoinflammatory diseases is unknown;…
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…

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