ACR Meeting Abstracts

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Abstracts tagged "Autoinflammatory diseases"

  • 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…
  • Abstract Number: 2059 • ACR Convergence 2023

    Management of Iatrogenic, Recombinant Interleukin-1 Receptor Antagonist-type Amyloidosis on NOMID in Patients on Anakinra

    Sara Alehashemi1, Anvitha Metpally2, Surendra Dasari3, Kat Uss2, Londa Hathaway4, Douglas B. Kuhns5, Danielle Fink5, Chyi-Chia Richard Lee6, Leslie A Castelo-Soccio4, Edward W. Cowen4, Samih H. Nasr7, Ellen McPhail7 and Raphaela Goldbach-Mansky8, 1NIH/NIAID/TADS, Clarksville, MD, 2NIAID, NIH, Bethesda, MD, 3Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, 4NIAMS, NIH, Bethesda, MD, 5Frederick National Laboratory for Cancer Research, Bethesda, MD, 6NCI, NIH, Bethesda, MD, 7Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 8NIH/NIAID, Potomac, MD

    Background/Purpose: Patients with Neonatal-Onset Multisystem Inflammatory Disease (NOMID) often require long-term high-dose treatment with anakinra at 5-8 mg/kg daily subcutaneous injections to control CNS inflammation…
  • Abstract Number: 0259 • ACR Convergence 2023

    Preliminary Experience with a Novel “Fix” for Deep Epitope and Transcriptional Phenotyping of Fragile Cells from Autoinflammatory Flares

    Hallie Carol1, Emily Landy2 and Scott Canna1, 1Children's Hospital of Philadelphia, Philadelphia, PA, 2University of Pittsburgh, Pittsburgh, PA

    Background/Purpose: Autoinflammatory diseases (AID) are characterized by inflammation and immunopathology due to primary defects in the innate immune response. Neutrophils (PMN) feature prominently in the…
  • Abstract Number: 1125 • ACR Convergence 2023

    A Rheumatologic Clinical Profile of the VEXAS Syndrome: Results from a Survey Conducted Among Rheumatologic Units of 126 Hospitals Across Spain

    Marta López I Gómez1, Paula García Escudero2, Marta López3, Berta Magallanes López4, Meritxell Salles Lizarzaburu5, Beatriz Frade Sosa6, Elena Riera7, Ernesto Trallero Araguás8, MARIA ELVIRA DIEZ ALVAREZ9, Francisco Javier Toyos Sáenz de Miera10, Alicia Garcia Dorta11, José Ángel Hernández Beriain12, Marta Ibáñez Martínez13, carolina Merino14, PALOMA VELA15, Ana Victoria Orenes Vera16, Diego Dios Santos17, Jose Alberto Miranda Filloy18, Clara García Belando19, María Rodríguez Laguna20, Ignacio Vázquez21, Joaquin Belzunegui22, Judit Font23, Carlos de Miguel Sánchez24, Zuriñe Ortiz de Zárate Caballero25 and Jaime Calvo Alén26, 1Hospital Universitario de Araba, Pamplona, Spain, 2Hospital Universitario Araba, Bilbao, Spain, 3Hospital Universitario Arava, Pamplona, Spain, 4Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, 5C. H. de Manresa - Fundació Althaia, Barcelona, Spain, 6Hospital Clínic de Barcelona, Barcelona, Spain, 7H. U. Mútua Terrasa, Barcelona, Spain, 8Department of Rheumatology, Hospital Universitario Vall d'Hebron, Barcelona, Spain, 9Rheumatology, Hospital Universitario de León, León, Spain, 10Hospital Virgen Macarena, Sevilla, Spain, 11Rheumatology Unit, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain, 12Rheumatology, Hospital Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain, 13C. A. U. de Salamanca, Salamanca, Spain, 14Rheumatology Department Hospital Universitario Puerta de Hierro, Majadahonda (Madrid), Spain, 15Rheumatology, Hospital General Universitario Alicante, Alicante, Spain, 16H. Arnau de Vilanova, Valencia, Spain, 17Rheumatology department, Complexo Hospitalario Universitario A Coruña (CHUAC). Instituto de Investigación Biomédica A Coruña (INIBIC), A Coruña, Spain, 18C. H. U. Lucus Augusti, Lugo, Spain, 19Hospital Los Arcos del Mar Menor, Murcia, Spain, 20H. Clínico San Carlos, Madrid, Spain, 21H. U. Dr. Peset, Valencia, Spain, 22H. C. Alto Deba, Donostia, Spain, 23Hospital Universitario Germans Trias i Pujol, Badalona, Spain, 24Hospital Universitario de Araba, Hematology, VItoria, Spain, 25Hospital Universitario de Araba, Internal Medicine, Vitoria, Spain, 26Hospital Universitario Araba, Vitoria, Spain

    Background/Purpose: The newly described VEXAS syndrome is a very heterogenous disease with rheumatologic and hematologic manifestations, caused by somatic mutations affecting UBA1 gene, that still…
  • Abstract Number: 1913 • ACR Convergence 2023

    Neurosarcoidosis Disease Epidemiology. University Hospital in Northern Spain 1999-2019

    Ana Serrano-Combarro1, Alba Herrero-Morant2, Lara Sanchez-Bilbao3, Inigo Gonzalez-Mazon3, David Martinez-Lopez4, Jose Luis Martin-Varillas5, Raul Fernandez-Ramon6 and Ricardo Blanco7, 1Hospital Universitario Marques de Valdecilla, IDIVAL, Santander, Spain, 2Hospital Universitario Marqués de Valdecilla, Ontinyent, Spain, 3Hospital Universitario Marques de Valdecilla, Santander, Spain, 4Hospital de Sierrallana, Santander, Spain, 5Hospital de Laredo, Laredo, Spain, 6Hospital Universitario Marqués de Valdecilla, Santander, Spain, 7Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain

    Background/Purpose: Neurosarcoidosis (NS) is a serious and relative uncommon complication of sarcoidosis. Data on incidence is scarce and varies worldwide. Our objective is toestimate NS…
  • Abstract Number: 2175 • ACR Convergence 2023

    Real-World Drug Persistence of GP2015, an Etanercept Biosimilar, in Patients with Rheumatoid Arthritis: Results from the Multi-Country COMPACT Study

    Marc Schmalzing1, Charlotte Both2, Ines Brueckmann2, Javier de Toro Santos3, Tom Sheeran4, Herbert Kellner5 and Ayman Askari6, 1University Hospital, Rheumatology/Clinical Immunology, Department of Internal Medicine II, Würzburg, Germany, 2Sandoz Hexal AG, Rheumatology, Holzkirchen, Germany, 3University Hospital Coruña, Rheumatology, A Coruña, Spain, 4University of Wolverhampton, New Cross Hospital, Wolverhampton, United Kingdom, 5Hospital Neuwittelsbach, Center for Rheumatology and Gastroenterology, Munich, Germany, 6Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Rheumatology, Shropshire, United Kingdom

    Background/Purpose: COMPACT is a multi-country, non-interventional study that evaluated the drug persistence, effectiveness, safety and patient-reported outcomes in patients with rheumatoid arthritis (RA), axial spondyloarthritis…
  • Abstract Number: 0260 • ACR Convergence 2023

    Phenotypes of the Patients with More Than One Autoinflammatory Gene Variant: Classified Diseases and Mixed Autoinflammatory Disorders (MAID)

    Shirkhan Amikishiyev1, Tuğba Kalaycı2, Lale Soltanova3, Yasemin Yalçınkaya4, Bahar Artim-Esen1, Murat Inanc1, Ayla Sahin2, Sema Sırma Ekmekci5, Neslihan Abacı5, Sukru Ozturk2, Sukru Palanduz2 and Ahmet Gul1, 1Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, 2Department of Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, 3Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, 4Istanbul University, Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, 5Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkey

    Background/Purpose: Background: Systemic autoinflammatory disorders (SAIDs) are including a group of diseases, which are associated with genetic variations resulting in dysregulation of innate immunity and…
  • Abstract Number: 1129 • ACR Convergence 2023

    Accuracy and Performance Characteristics of Administrative Codes for the Diagnosis of Autoinflammatory Syndromes: A Discovery and Validation Study

    Saeyun Lee1, Sujin Kim2, Suzanne Segerstrom2, Polly Ferguson1 and Aleksander Lenert3, 1University of Iowa Carver College of Medicine, Iowa City, IA, 2University of Kentucky, Lexington, KY, 3University of Iowa, Iowa City, IA

    Background/Purpose: Autoinflammatory syndromes (AIS), a group of rare rheumatic diseases driven by the innate immune system, remain understudied due to the lack of prospective cohorts.…
  • Abstract Number: 1916 • ACR Convergence 2023

    Clinical Features of the Patients with NLRP1 Gene Variants and a Systemic Autoinflammatory Phenotype

    Shirkhan Amikishiyev1, Tuğba Kalaycı2, Rabia Deniz3, Yasemin Yalçınkaya4, Bahar Artim-Esen1, Murat Inanc1, Ayla Sahin2, Sema Sırma Ekmekci5, Neslihan Abacı5, Sukru Ozturk2, Sukru Palanduz2 and Ahmet Gul1, 1Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, 2Department of Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, 3Division of Rheumatology, University of Health Sciences, Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey, 4Istanbul University, Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, 5Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkey

    Background/Purpose: Although NLRP1 was the first identified member of the NOD-like receptors family, its role as a sensor of pathogen- or damage-associated signals and its…
  • Abstract Number: 2477 • ACR Convergence 2023

    Anifrolumab Normalizes the Type I Interferon Signature in a Cohort of Patients with Type I Interferonopathies

    Sara Alehashemi1, Alexi Baumgardner2, Bita Shakoory3, Adriana Almeida de Jesus2, Sophia Park2, Kat Uss2, Maria P. Robles4, Karin Palmblad5, Annacarine Horne5, Peter Brodin5, Shoghik Akoghlanian6, Roshini Abraham7, Peter Mustillo7, Lilliana Barillas-Arias8, Andrea Heras9, Theresa Wampler Muskardin10, Monica G. Lawrence11, Hannah C. Mannem11, Brian E. Nolan12, Scott Canna13, Adam Reinhardt14, Bryce Binstadt15 and Raphaela Goldbach-Mansky16, 1NIH/NIAID/TADS, Clarksville, MD, 2NIAID, NIH, Bethesda, MD, 3NIH, NIAID, Translational Autoinflammatory Disease Study Unit, Bethesda, MD, 4Indiana University, Indianapolis, IN, 5Karolinska University Hospital, Stockholm, Sweden, 6Nationwide Children's Hospital, Columbus, OH, 7Nationwide Children's Hospital, Columbus, OH, 8Albany Medical Center, Albany, NY, 9Weill Cornell Medicine, New York, NY, 10Hospital for Special Surgery, New York, NY, 11University of Virginia, Charlottesville, VA, 12Lurie Children’s Hospital, Chicago, IL, 13Children's Hospital of Philadelphia, Philadelphia, PA, 14Boys Town National Research Hospital, Omaha, NE, 15University of Minnesota, Minneapolis, MN, 16NIH/NIAID, Potomac, MD

    Background/Purpose: Autoinflammatory Type I Interferonopathies (IFNopathies) include SAVI (STING-associated vasculopathy with onset in infancy), CANDLE/PRASS (Chronic atypical neutrophilic dermatosis, with lipodystrophy and elevated temperature), and…
  • Abstract Number: 0269 • ACR Convergence 2023

    Acute Kidney Injury and Plasma Cell-Rich Acute Interstitial Nephritis in VEXAS Syndrome: An Under-recognized Disease Feature

    Matthew Koster, Loren HerreraHernandez, Lihong Bu, Daniel Montes, Samih Nasr, Lynn Cornell, Kenneth Warrington, Mrinal S. Patnaik, Abhishek A. Mangaonkar and Kambiz Kalantari, Mayo Clinic, Rochester, MN

    Background/Purpose: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified autoinflammatory disease with a large variety of disease manifestations. While recurrent fever,…
  • Abstract Number: 1132 • ACR Convergence 2023

    Preclinical Profiles of FZ007-119, a Highly Potent and Selective Tyk2 Inhibitor, for the Treatment of Immune Mediated Inflammatory Diseases

    Wenhe Zhong, Jielian Lu, Dong Chen, Shiqun Zhang and Daiguo Deng, Guangzhou Fermion Technology Co., LTD, Guangzhou, China

    Background/Purpose: Tyrosine Kinase 2 (TYK2) is a signaling protein within the Janus kinase (JAK) family. It plays a crucial role in transmitting signals from pro-inflammatory…
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