Abstracts tagged "Autoinflammatory diseases"

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: 032 • 2023 Pediatric Rheumatology Symposium
From Bedside to Bench and Back: Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes with Hearing Loss as the Primary Presentation, Responsive to Anti-IL1 Therapy
Merav Birk-Bachar¹, Hadar Cohen², Yoel Levinsky³, rotem tal⁴, Gil Amarilyo⁵, Meirav Sokolov⁶, Efrat Sofrin-Drucker⁷, Naama Orenstein⁷, Gabriel Lidzbarsky⁷, Liora Kornreich⁸, Eyal Raveh⁶, Nesya Kropach-Gilad⁷, Motti Gerlic² and Liora Harel⁹, ¹Pediatric Rheumatology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ²Sackler Faculty of Medicine, Immunology Department, Tel Aviv University, Tel Aviv, Israel, ³Schneider Children's Medical Center of Israel, Tel Aviv University, Petach Tikva, Israel, ⁴Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁵Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁶Pediatric Ear Nose and Throat Unit Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁷Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel, ⁸Pediatric Imaging Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁹Scheiders Children Medical Center of Israel, Petah-Tiqva, Israel
Background/Purpose: Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of rare autoinflammatory diseases caused by gain-of-function mutations inthe NLRP3 gene. These mutations cause inflammasome hyperactivity 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…
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: 0010 • ACR Convergence 2022
The Inflammation Induced by Monosodium Urate and Calcium Pyrophosphate Crystals Depends on Osmolarity and Aquaporin Channels
Twinu wilson Chirayath¹, Nghia Pham¹, Christophe Duranton², Isabelle Rubera², Alan Gauffenic¹, Martine Cohen-Solal¹, Augustin Latourte³, Thomas Bardin⁴, Pascal Richette⁵, FREDERIC LIOTE¹ and Hang-Korng Ea⁶, ¹INSERM, PARIS, France, ²CNRS-UMR 7370, Nice, France, ³Université de Paris, Paris, France, ⁴Hôpital Lariboisiere, Paris, France, ⁵Department of Rheumatology, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Paris, France, ⁶Lariboisière Hospital, Paris, France
Background/Purpose: The inflammation induced by monosodium urate (MSU) and calcium pyrophosphate (CPP) crystals is driven by interleukin (IL)-1β production. This later relies on NLRP3 inflammasome…

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