Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0214 • ACR Convergence 2023
COVID-19 Vaccine Uptake, Hesitancy, and Flare in a Large Rheumatology Practice Network
Emily Holladay¹, Amy S. Mudano², Fenglong Xie², Patrick Stewart³, Lesley E. Jackson¹, Maria I. ("Maio") Danila⁴, Kelly Gavigan⁵, W. Benjamin Nowell⁶, Shilpa Venkatachalam⁷ and Jeffrey Curtis¹, ¹University of Alabama at Birmingham, Birmingham, AL, ²Illumination Health, Hoover, AL, ³Illumination Health, Birmingham, AL, ⁴University of Alabama at Birmingham (UAB), Birmingham VA Medical Center, Birmingham, AL, ⁵Global Healthy Living Foundation, Upper Nyack, NY, ⁶Global Healthy Living Foundation, Nyack, NY, ⁷Global Healthy Living Foundation, New York, NY
Background/Purpose: COVID-19 vaccine uptake in autoimmune and inflammatory rheumatic disease (AIIRD) patients is an area of concern to rheumatologists and other providers. These patients are…
Abstract Number: 0762 • ACR Convergence 2023
Liver Disease Is a Common Feature of HA20 That Causes Significant Morbidity Associated with Interferon Induction
Magdalena Harasimowicz¹, Deborah Stone², Manuel Carpio Tumba¹, Tina Romeo², Urekha Karri¹, Patrycja Hoffmann³, Helen Leavis⁴, Alexander Miethke⁵, Theo Heller², Anjali Rai², Ivona Aksentijevich², amanda ombrello⁶, Daniel Kastner⁷ and Daniella Schwartz¹, ¹University of Pittsburgh, Pittsburgh, PA, ²NIH, Bethesda, MD, ³NIH, Vienna, VA, ⁴Infection Immunity Utrecht, Utrecht, Netherlands, ⁵Cincinnati Children's Hospital, Cincinnati, OH, ⁶National Institutes of Health, Rockville, MD, ⁷National Human Genome Research Institute, Bethesda, MD
Background/Purpose: Heterozygous loss-of-function TNFAIP3 mutations cause A20 haploinsufficiency (HA20), an early-onset immune dysregulatory disease1. While HA20 was initially described as an inherited form of Behcet’s…
Abstract Number: 1712 • ACR Convergence 2023
Identification and Functional Characterization of Eight CANDLE/PRAAS Causing Proteasome Variants in Five Unrelated Patients
Adriana Almeida de Jesus¹, Jonas J. Papendorf², Frederic Ebstein³, Sara Alehashemi⁴, Daniela Pioto⁵, Anna Kozlova⁶, Maria Teresa TErreri⁷, Anna Shcherbina⁶, Andre Rastegar⁸, Marta Rodrigues⁹, Renan Pereira¹⁰, Sophia Park¹¹, Bin Lin¹², Kat Uss¹¹, Ana Flavia da Silva Pina⁵, FLAVIO SZTAJNBOK¹³, Sofia Torreggiani¹⁴, Jennifer Stoddard¹⁵, Julie Niemela¹⁵, Sergio Rosenzweig¹⁵, Adriana Fonseca¹⁶, Marietta De Guzman¹⁷, Nicole Micheloni⁵, Melissa Fraga⁵, Sandro Perazzio¹⁸, Raphaela Goldbach-Mansky¹⁹ and Elke Krueger², ¹NIAID, NIH, Bethesda, MD, ²Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany, ³Nantes Université, Nantes, France, ⁴NIH/NIAID/TADS, Clarksville, MD, ⁵Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil, ⁶Center for Pediatric Hematology, Oncology, Immunology, Moscow, Russia, ⁷UNIFESP, São Paulo, Brazil, ⁸NIH, Bethesda, MD, ⁹Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil, ¹⁰Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil, ¹¹Translational Autoinflammatory Diseases Section, LCIM, NIAID, NIH, Bethesda, MD, ¹²Translational Autoinflammatory Diseases Section l LCIM, NIAID, NIH, Bethesda, MD, ¹³UFRJ/UERJ, São Paulo, Brazil, ¹⁴University of Maryland Baltimore, Baltimore, MD, ¹⁵Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, ¹⁶Instituto de Puericultura e Pediatria Martagao Gesteira / Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹⁷Baylor College of Medicine, Houston, TX, ¹⁸Universidade de Sao Paulo (Unifesp); Universidade de São Paulo (USP); Fleury Laboratories, São Paulo, Brazil, ¹⁹NIH/NIAID, Potomac, MD
Background/Purpose: Mutations in genes coding for 20S proteasome subunits or proteasome assembly helpers cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or…
Abstract Number: 2048 • ACR Convergence 2023
Development and Usability Testing of Web-based Standardized Scoring Tool for Magnetic Resonance Images from Children with Chronic Nonbacterial Osteomyelitis (CNO)
Farzana Nuruzzaman¹, T. Shawn Sato², Andrew Carbert³, Joel Paschke³, Lauren Potts⁴, Meinrad Beer⁵, Mingqian Huang⁶, Ramesh Iyer⁷, Johanna Monsalve⁸, Anh-Vo Ngo⁷, Jennifer Stimec⁹, Mahesh Thapa⁷, Xiaoyue Zhang¹⁰, Walter P. Maksymowych¹¹, Polly Ferguson¹² and Yongdong (Dan) Zhao¹³, ¹Stony Brook Children's Hospital, Stony Brook, NY, ²University of Iowa, Iowa City, IA, ³CARE Arthritis, Edmonton, AB, Canada, ⁴Illustrator/Patient Research Partner, Long Beach, CA, ⁵University Hospital, Ulm Germany, Ulm, Germany, ⁶Mount Sinai Hospital, New York, NY, ⁷University of Washington, Seattle, WA, ⁸SUNY-Stony Brook Hospital, Stonybrook, NY, ⁹The Hospital for Sick Children, Toronto, ON, Canada, ¹⁰Biostatistical Consulting Core - Renaissance School of Medicine at Stony Brook University, Stony Brook, NY, ¹¹University of Alberta, Edmonton, AB, Canada, ¹²University of Iowa Carver College of Medicine, Iowa City, IA, ¹³University of Washington, Redmond, WA
Background/Purpose: The ChRonic nonbacterial Osteomyelitis Magnetic Resonance Imaging Scoring (CROMRIS) tool was developed but it was not digitized yet. Our objectives are: 1) to adapt…
Abstract Number: 0220 • ACR Convergence 2023
Paxlovid (Nirmatrelvir Plus Ritonavir) in Patients with Underlying Rheumatological Diseases, in Preventing COVID-19 Related Hospitalization and Death
Faiza Javed, Tony Mangino and Paramarajan Piranavan, University of Kentucky College of Medicine, Lexington, KY
Background/Purpose: The benefits of antiviral therapy in the COVID-19 patients with underlying rheumatic disease with or without immunosuppression are not entirely clear. The goal of…
Abstract Number: 0891 • ACR Convergence 2023
Selective and Potent Inhibition of Cyclic GMP-AMP Synthase (cGAS) Fully Normalizes Autoinflammation Across Tissues in a Trex1-/- Mouse Model for Type I Interferonopathies
Arnaud Bourin¹, Zuzana Hořejší², Isabelle Cambré¹, Juraj Dobiaš², Mikhail Klychnikov², Radek Liboska², Maroš Smolíček², Zdeněk Vavřina², Wanda Haeck¹, Hugo Klaassen¹, Marnik Nijs¹, Kristine Metzger¹, Sandro Boland¹, Dries De Clercq¹, Sara Allasia¹, Gunter Carlens¹, Patrick Chaltin³, Arnaud Marchand¹, Ondřej Páv², Matthias Versele¹ and Gabriel Birkuš², ¹Centre for Drug Design and Discovery (CD3) - Cistim, Leuven, Belgium, ²Institute of Organic Chemistry and Biochemistry, Prague, Czech Republic, ³Centre for Drug Design and Discovery (CD3) - KU Leuven, Leuven, Belgium
Background/Purpose: The cGAS enzyme is a sensor of cytosolic double-strand (ds) DNA. It serves to detect viruses and elicits an acute, transient cGAMP-STING mediated type…
Abstract Number: 1775 • ACR Convergence 2023
The Peptidyl Arginine Deiminase Inhibitor BB-CLA Decreases the Inflammatory and Fibrotic Responses in Macrophages and Rheumatoid Arthritis Synovial Fibroblasts Exposed to Fibrinogen Modified with Malondialdehyde-Acetaldehyde Adduct and Citrulline
Jack Mordeson¹, Nozima Aripova¹, Michael Duryee¹, James O'Dell¹, Bryant England¹, Daniel Anderson¹, Ted R Mikuls² and Geoffrey Thiele¹, ¹University of Nebraska Medical Center, Omaha, NE, ²Division of Rheumatology and Immunology, University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Peptide citrullination and adduction with malondialdehyde-acetaldehyde adduct (MAA) are post-translational modifications involved in the pathogenesis of rheumatoid arthritis (RA). Anti-cyclic-citrullinated peptide antibodies are >90%…
Abstract Number: 2053 • ACR Convergence 2023
Predictive Factors Associated with Treatment Response in Chronic Nonbacterial Osteomyelitis
Katherine Nowicki¹, Nathan Rogers², Carson Keeter², Nathan Donaldson², Jennifer Soep² and Yongdong (Dan) Zhao³, ¹University of Colorado, Lakewood, CO, ²University of Colorado, Aurora, CO, ³University of Washington, Redmond, WA
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is characterized by sterile inflammatory bone lesions and most commonly affects skeletally immature children. Non-steroidal anti-inflammatory drugs (NSAIDs) are the…
Abstract Number: 0255 • ACR Convergence 2023
Lymphoid Mass in the Inferior Turbinate with IgG4 Producing Cells: A Nasal Manifestation of IgG4-RD or a Distinct Chronic Inflammatory Disease?
Ji In Jung¹, Ju Yeon Kim², Jun Won Park², Eun Bong Lee², Jin Kyun Park³ and Doo Hee Han², ¹Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea, ²Seoul National University Hospital, Seoul, South Korea, ³Seoul National University College of Medicine, Seoul, South Korea
Background/Purpose: IgG4-related disease (IgG4-RD) is a rare, multi-system, fibro-inflammatory disorder characterized by the infiltration of lymphoplasmacytic cells, storiform fibrosis, obliterative phlebitis, and the presence of…
Abstract Number: 1093 • ACR Convergence 2023
Development of Adaptive Immunity Against Different SARS-CoV-2 Variants over the Course of Three COVID-19 Vaccinations in Patients with Inflammatory Rheumatic Diseases
Liam Huppke¹, Paul Wratil², Marie Bischof², Stefan Wolfrum¹, Fabian Ullrich¹, Delila Singh¹, Julia Lichtnekert¹, Lea Grümme¹, Christina Gebhardt¹, Klaus Krüger³, Franziska Wiesent⁴, Alla Skapenko¹, Oliver Keppler⁵ and Hendrik Schulze-Koops⁶, ¹Division of Rheumatology and Clinical Immunology, Department of Internal Medicine IV, University of Munich, Munich, Germany, ²Max von Pettenkofer Institute & Gene Centre, Virology, National Reference Centre for Retroviruses, LMU Munich, Munich, Germany, ³Praxiszentrum St. Bonifatius, Munich, Germany, ⁴Endokrinologikum München, Munich, Germany, ⁵Max von Pettenkofer Institute & Gene Centre, Virology, National Reference Centre for Retroviruses, LMU München, Munich, Germany, ⁶Division of Rheumatology and Clinical Immunology, Department of Internal Medicine IV, Ludwig-Maximilians–University Munich, Munich, Germany
Background/Purpose: Even though individuals with inflammatory rheumatic diseases (IRDs) were excluded from the SARS-CoV-2 vaccine trails, studies have shown that these individuals at risk of…
Abstract Number: 1817 • ACR Convergence 2023
Geographic Variability of Inflammatory Bowel Disease Related Mortality, 1999-2019; CDC WONDER
Saleha Aziz¹, Anum Akhlaq¹, Sana Gurz² and Yousaf Zafar¹, ¹University of Mississippi Medical Center, Jackson, MS, ²University of Nevada, Las Vegas, NV
Background/Purpose: The United States makes a significant contribution to Inflammatory Bowel Disease (IBD) related disease burden worldwide. However, data on geographic variability of IBD related…
Abstract Number: 2058 • ACR Convergence 2023
IL-1 Blocking Treatment Slows the Progression of Sensorineural Hearing Loss in Patients with NOMID
Sara Alehashemi¹, Ana M. Ortega-Villa², Megha Garg³, Katherine Myint-Hpu⁴, Kim Johnson⁵, FARZANA BHUYAN⁶, Kelly King⁷, Chris Zalewski⁷, Danielle Fink⁸, Douglas B. Kuhns⁸, John Butman⁹, Carmen Brewer⁷, H. Jeffrey Kim⁷, Dean Follmann² and Raphaela Goldbach-Mansky¹⁰, ¹NIH/NIAID/TADS, Clarksville, MD, ²Biostatistics Research Branch, Division of Clinical Research, NIH, Bethesda, MD, ³Rochester Regional Health, Pittsford, NY, ⁴NIAID, NIH, Bethesda, MD, ⁵NIH, NIAID, Bethesda, MD, ⁶National Institutes of Health, Bethesda, MD, ⁷National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, ⁸Frederick National Laboratory for Cancer Research, Bethesda, MD, ⁹Clinical Center, NIH, Bethesda, MD, ¹⁰NIH/NIAID, Potomac, MD
Background/Purpose: NOMID is a severe form of cryopyrin-associated periodic syndrome characterized by systemic inflammation and CNS manifestations, including sensorineural hearing loss. IL-1 blocking agents, Anakinra…
Abstract Number: 0258 • ACR Convergence 2023
Understanding Monogenic Behçet’s Disease Pathophysiology: Impact of Pathogenic Variant L227X Associated with Autoinflammatory A20 Haploinsufficiency on Cellular Survival and Proliferation
Patricia Aires¹, Daniela Pioto¹, Maria Teresa TErreri² and Sandro Perazzio³, ¹Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil, ²UNIFESP, São Paulo, Brazil, ³Universidade de Sao Paulo (Unifesp); Universidade de São Paulo (USP); Fleury Laboratories, São Paulo, Brazil
Background/Purpose: A20, encoded by TNFAIP3, plays a critical role in NF-κB pathway regulation. A20 haploinsufficiency is a monogenic disorder form of Behçet's disease with a…
Abstract Number: 1106 • ACR Convergence 2023
Monosodium Urate and Calcium Pyrophosphate Crystal-induced Inflammation Relies on Cell Volume Regulation and LRRC8/VRAC Channel Activation
Twinu Wilson Chirayath¹, mete kayatekin², Isabelle Rubera³, Nghia Pham⁴, FREDERIC LIOTE⁴, Pascal Richette⁵, Vincent COMPAN⁶, François Rassendren⁷, Christophe Duranton³ and Hang Korng EA⁴, ¹INSERM, Paris, France, ²CNRS-UMR7370, Nice, France, ³CNRS-UMR 7370, Nice, France, ⁴INSERM-BIOSCAR, Paris, France, ⁵Lariboisière Hospital, Paris, France, ⁶CNRS-IGF, Montpellier, France, ⁷CNRS UMR 5203, Montpellier, France
Background/Purpose: Monosodium urate (MSU) and calcium pyrophosphate (CPP) crystals are responsible for interleukin (IL)-1β dependent acute arthritis. The release of mature IL-1β is dependent on…
Abstract Number: 1893 • ACR Convergence 2023
Abnormalities Detected with [18F]-FDG-PET/CT Imaging in VEXAS Syndrome
Albrecht Betrains¹, Vincent Jachiet², Yannick Dieudonne³, Jérémie Dion⁴, Estibaliz Lazaro⁵, Claire De Moreuil⁶, Samuel Ardois⁷, Sylvie Grosleron⁸, Jean-benoit Arlet⁹, Cécile-Audrey Durel¹⁰, Laure Delaval¹¹, Sylvain Audia¹², Cécile Golden¹³, Barbara Nicolas¹³, Vincent Langlois¹⁴, Antoinette Perlat⁷, Frédéric Vandergheynst¹⁵, Thomas Moulinet¹⁶, Maxime Samson¹⁷, Daniel Blockmans¹, Olivier Kosmider¹⁸, Sophie Georgin-Lavialle¹⁹, Arsène Mekinian²⁰ and Benjamin Terrier²¹, ¹Department of General Internal Medicine, University Hospitals Leuven, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium, ²Service de médecine interne et Inflammation-Immunopathology-Biotherapy Department (DMU i3), Sorbonne Université, AP-HP, Hôpital Saint Antoine, Paris, France, ³Department of Clinical Immunology and Internal Medicine, National Reference Centre for Systemic Autoimmune Diseases (CNR RESO), Strasbourg University Hospital, Strasbourg, France, ⁴Internal Medicine Department, Toulouse University Hospital, Toulouse, France, ⁵Bordeaux Hospital University, Pessac, France, ⁶CHU de Brest, Brest, France, ⁷CHU Rennes, Rennes, France, ⁸CH Agen-Nérac, Agen, France, ⁹Hôpital Georges-Pompidou APHP, Paris, France, ¹⁰CHU Lyon, Lyon, France, ¹¹Hôpital Bichat APHP, Paris, France, ¹²Department of Internal Medicine and Clinical Immunology, Dijon-Bourgogne University Hospital, Dijon, France, ¹³CHU Dijon, Dijon, France, ¹⁴Service de Médecine Interne, Hôpital Jacques Monod, Le Havre, France, ¹⁵Université Libre de Bruxelles, Bruxelles, Belgium, ¹⁶Department of Internal Medicine, Centre hospitalier universitaire de Nancy, Nancy, France, ¹⁷Department of Internal Medicine and Clinical Immunology, Dijon University Hospital, Dijon, France, ¹⁸Hôpital Cochin APHP, Paris, France, ¹⁹AP-HP, Tenon hospital, Paris, France, ²⁰Department of Internal Medicine, Hôpital Saint-Antoine, AP-HP, Paris, France, ²¹Department of Internal Medicine, Hôpital Cochin, AP-HP, Paris, France
Background/Purpose: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is anautoinflammatory syndrome caused by somatic mosaicism in the UBA1 gene. [18F]-FDG-PET/CT is often performed during…

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