Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 121 • 2023 Pediatric Rheumatology Symposium
The Effectiveness of Tonsillectomy in Periodic Fever, Aphthous Ulcer, Pharyngitis, and Adenitis Syndrome in Pediatric Patients
John Storwick¹ and Marinka Twilt², ¹Alberta Children's Hospital/University of Calgary, Calgary, AB, Canada, ²Alberta Children's Hospital, Calgary, AB, Canada
Background/Purpose: Periodic Fevers with Aphthous Ulcers, Pharyngitis, and Adenitis Syndrome (PFAPA Syndrome) is the most common pediatric periodic fever syndrome. The most recent diagnostic criteria…
Abstract Number: 127 • 2023 Pediatric Rheumatology Symposium
What’s in a Name? A20 Protein Expression in an in Vitro Model of A20 Haploinsufficiency
Patricia Pontes Aires¹, DANIELA GERENT PETRY PIOTTO¹, Andre Cunha¹, Sandro Perazzio² and Maria Teresa Terreri³, ¹Universidade Federal de São Paulo, São Paulo, Brazil, ²Universidade de So Paulo; Fleury Laboratories, São Paulo, Brazil, ³UNIFESP, São Paulo, Brazil
Background/Purpose: Tumor necrosis factor alpha (TNF-alpha) induced protein 3 gene, or TNFAIP3, encodes the A20 protein, an important regulator of the NF-κB pathway. Since its…
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…
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…

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