Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0695 • ACR Convergence 2023
Impact and Cardiovascular Outcomes of Large Vessel Vasculitis in Atrial Fibrillation Hospitalization: A Nationwide Inpatient Database Study
Sabahat Usmani¹, Yanint Raksadawan¹, Amro Taha¹, Harigopal Sandhyavenu¹, Jalpan Patel¹, Thatiana Schulze Goni¹, Hafiz Muhammad Waqar Younas¹ and Irisha Badu², ¹Weiss Memorial Hospital, Chicago, IL, ²Onslow Memorial Hospital, Jacksonville, FL
Background/Purpose: Atrial fibrillation is the most commonly treated cardiac arrhythmia, associated with significant morbidity and mortality. Recent research is suggestive that autoimmunity and inflammation might…
Abstract Number: 1355 • ACR Convergence 2023
Delivering Care for Pregnant Women with Rheumatic and Musculoskeletal Diseases in Ireland: Current Challenges and Practices
Rebecca O'Farrell¹, Sinead Maguire², Louise Moore³, Kieran Murray⁴, Áine Gorman⁵, Elisabeth Ball⁶, Claire Riddell⁶, Madeline O'Neill⁷, Natasha Jordan⁸, Barry O'Shea⁹, Douglas Veale¹⁰, Suzanne Donnelly¹¹, Grainne Murphy¹² and Gillian Fitzgerald¹³, ¹Department of Rheumatology, Galway, Dublin, Ireland, ²Toronto Western Hospital, Toronto, ON, Canada, ³Our Lady's Hospice and Care Services, Harold's Cross, Dublin 6W, Harold's Cross,, Ireland, ⁴University Hospital Limerick, Limerick, Ireland, ⁵Royal United Hospital, Bath, United Kingdom, ⁶Belfast Health and Social Care Trust, Belfast, United Kingdom, ⁷Our Lady's Hospice, Harold's Cross, Dublin, Ireland, ⁸Addenbrooke's Hospital, Cambridge, United Kingdom, ⁹St James's Hospital, Dublin, Ireland, ¹⁰St.Vincent's University Hosp, Dublin, Ireland, ¹¹Mater Misericordiae University Hospital, Dublin, Ireland, ¹²Cork University Hospital, Cork, Ireland, ¹³University Hospital Galway, Galway, Ireland
Background/Purpose: Rheumatic disease frequently affects women of childbearing age. Women with pre-existing rheumatic disease who are planning a pregnancy or develop these conditions during pregnancy…
Abstract Number: 1941 • ACR Convergence 2023
Identification of VEXAS Syndrome in Mexican Patients with Inflammatory and Hematologic Manifestations
Eduardo Martin-Nares¹, Beatriz E. Sánchez-Hernández², Peter Grayson³, Jose Crispin¹, Daniel Montante-Montes de Oca², Andrea Hinojosa-Azaola¹, Gabriela Hernandez-Molina¹, Elia Apodaca⁴, Emma M. Groarke⁵, Jesús Delgado-de la Mora², Silvia Méndez-Flores⁶, Armando Gamboa-Domínguez², Bhavisha Patel⁷ and Marcela Ferrada⁸, ¹Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ²Department of Pathology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ³National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD, ⁴Department of Oncology and Hematology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ⁵Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health (NIH), Bethesda, MD, ⁶Department of Dermatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ⁷National Institutes of Health, Beltsville, MD, ⁸National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: There is limited information on VEXAS syndrome in the Latin-American population. We aimed to identify UBA1 mutations causing VEXAS syndrome in Mexican patients presenting…
Abstract Number: 0112 • ACR Convergence 2023
Molecular Stratification of Antiphospholipid Syndrome Patients Through Integrative Analysis of the Whole-blood RNA Transcriptome
Amala Ambati¹, Feiyang Ma¹, Katarina Kmetova¹, Sherwin Navaz¹, Claire Hoy¹, Cyrus Sarosh¹, Ajay Tambralli¹, Johann E. Gudjonsson¹, J. Michelle Kahlenberg¹, Jacqueline Madison¹, Ali Duarte-Garcia², Jason Knight¹ and Yu Zuo¹, ¹University of Michigan, Ann Arbor, MI, ²Mayo Clinic, Rochester, MN
Background/Purpose: Antiphospholipid syndrome (APS) is an acquired thrombo-inflammatory disease associated with diverse clinical manifestations in the setting of persistent antiphospholipid antibodies (aPL). Early diagnosis and…
Abstract Number: 0737 • ACR Convergence 2023
Unraveling Pathophysiology and Hematopoiesis of VEXAS Syndrome by Multi-omics Analysis and Targeted Gene Editing
Corrado Campochiaro¹, Raffaella Molteni², Martina Fiumara³, Alessandro Tomelleri⁴, Elisa Diral⁵, Davide Stefanoni², Angelica Varesi³, Alessandra Weber³, Roberta Alfieri⁶, Luisa Albano³, Maddalena Panigada², Eleonora Cantoni², Daniele Canarutto³, Luca Basso-Ricci³, Pamela Quaranta³, Angelo D’Alessandro⁷, marco Matucci Cerinic⁸, Raffaella Di Micco³, Serena Scala³, Alessandro Aiuti³, Fabio Ciceri⁵, Ivan Merelli³, Lorenzo Dagna⁹, Simone Cenci², Luigi Naldini³, Samuele Ferrari³ and Giulio Cavalli², ¹IRCCS San Raffaele Hospital, Unit of Immunology, Rheumatology, Allergy and Rare Disease. Vita-Salute San Raffaele University, Milan, Italy, ²Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy, ³San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy, ⁴Unit of Immunology, Rheumatology, Allergy and Rare Diseases, San Raffaele Scientific Institute, Milano, Italy, ⁵Unit of Haematology and Bone Marrow Transplantation, IRCCS San Raffaele Hospital, Milan, Italy, ⁶Institute for Biomedical Technologies, National Research Council, Segrate, Italy, ⁷Department of Biochemistry and Molecular Genetics, University of Colorado Denver - Anschutz Medical Campus, Aurora, CO, ⁸Unit of Immunology, Rheumatology, Allergy and Rare diseases, IRCCS San Raffaele Hospital, Milan, Milan, Italy, ⁹Department of Internal Medicine, IRCCS San Raffaele Hospital and Vita-Salute San Raffaele University, Milan, Italy
Background/Purpose: VEXAS syndrome is an adult-onset, X-linked, life-threatening, autoinflammatory and hematological disease caused by somatic mutation in UBA1 gene. To understand its pathophysiology, we aimed…
Abstract Number: 1360 • ACR Convergence 2023
Factors Associated with Medication-related Concerns in Women with Inflammatory Rheumatic Diseases – an Analysis of a Nationwide Pregnancy Cohort
Yvette Meissner¹, Bernhard Eickhoff¹, Cornelia Glaser², Joerg Henes³, Jutta Richter⁴, Susanna Spaethling-Mestekemper⁵, Christof Specker⁶, Rebecca Fischer-Betz⁴ and Anja Strangfeld¹, ¹German Rheumatism Research Center, Berlin, Germany, ²Department of Rheumatology and Clinical Immunology University Medical Center Freiburg, Freiburg, Germany, ³University Hospital Tuebingen, Tuebingen, Germany, ⁴Clinic for Rheumatology and Hiller Research Unit, Heinrich-Heine-University Duesseldorf, Medical Faculty, Düsseldorf, Germany, ⁵Rheumapraxis Muenchen, Muenchen, Germany, ⁶Department of Rheumatology and Clinical Immunology, Kliniken Essen-Mitte, Essen, Germany
Background/Purpose: Pregnancies in women with chronic diseases are often accompanied by concerns about potential complications [1]. This analysis explored medication-related concerns among women with inflammatory…
Abstract Number: 2039 • ACR Convergence 2023
Clinical, Immunologic, and Genetic Characteristics in Patients with Syndrome of Undifferentiated Recurrent Fevers (SURF)
Marci Macaraeg, Michael Matt, Elizabeth Handorf, Elizabeth Baker and Grant Schulert, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Unexplained recurrent fevers are a common presentation to pediatric rheumatology and a significant burden to affected families due to missed daycare or school days…
Abstract Number: 0143 • ACR Convergence 2023
Cancer Incidence in Familial Mediterranean Fever
Sura Nur Baspinar¹, Berkay Kilic², Feyza Azman³, Mebrure Burcak Yuzbasioglu¹, Yelin Guler², Muhammet Kadir Tanin², Ulgar Boran Gunay², Gunay Can⁴ and Serdal Ugurlu⁵, ¹Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey, ²Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey, ³Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ⁴Department of Public Health, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey, ⁵Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is the most common hereditary monogenic fever syndrome characterized by recurrent attacks of fever and polyserositis. Anti-inflammatory drugs, with colchicine…
Abstract Number: 0759 • ACR Convergence 2023
Derivation and Validation of Four Patient Clusters in Still’s Disease, Results from GIRRCS AOSD-study Group and AIDA Network Still Disease Registry
Piero Ruscitti¹, Antonio Vitale², Ilenia Di Cola¹, Roberto giacomelli³ and Luca Cantarini⁴, ¹University of L'Aquila, L'Aquila, Italy, ²University of Siena, Siena, Italy, ³University of Rome Campus Biomedico, Rome, Italy, ⁴Department of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena and Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Siena, Italy
Background/Purpose: Still's disease is a rare inflammatory disorder, these patients have a highly heterogeneous disease according to age of onset, clinical presentation, presence of life-threatening…
Abstract Number: 1590 • ACR Convergence 2023
Autoimmune Pathway Blockade by a Potent Orally Bioavailable STING Antagonist
Min Yang¹, Hailong Li¹, yangyang liu¹, lili yao¹, Jing Lin¹, Zhi xie² and Wenge zhong¹, ¹Regor Therapeutics, Shanghai, China, ²Regor Pharmaceuticals, Inc., San Francisco, CA
Background/Purpose: The cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) pathway has emerged as a key innate immune mediator of autoimmune and inflammatory diseases. However,…
Abstract Number: 2044 • ACR Convergence 2023
Monogenic Interferon Mediated Diseases: Novel Phenotype and Genotype Characteristics from Saudi Population
Alhanouf Alsaleem, Sulaiman Al-Mayouf and Shahad Alansari, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
Background/Purpose: IFN-mediated diseases are mendelian innate immunodysregulatory disorders that present early in life with fevers, sterile organ inflammation, and a high type-I IFN-response gene signature…
Abstract Number: 0200 • ACR Convergence 2023
Herpes Zoster Prevalence in Patients with Rheumatic Diseases
Rodrigo J. Castillo-de la Garza¹, Jorge A. Esquivel-Valerio², Emmanuel Campos-Tinajero², Anahí Carrazco Chapa³, Gisela García Arellano⁴, Axel A. De Leon-Perez², Pablo Gamez-Siller² and Dionicio A. Galarza-Delgado⁵, ¹Universidad Autónoma de Nuevo León, Monterrey, Mexico, ²Hospital Universitario "Dr. José Eleuterio González", Monterrey, Mexico, ³Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Mexico, ⁴Hospital Universitario "Dr. José Eleuterio González", Monterrey, Mexico, ⁵Hospital Universitario UANL, Monterrey, Mexico
Background/Purpose: Herpes zoster (HZ) is a painful rash that is commonly known as shingles. People that had a primary infection caused by the varicella-zoster virus…
Abstract Number: 0761 • ACR Convergence 2023
EULAR / PreS Recommendations for the Diagnosis and Management of Systemic Juvenile Idiopathic Arthritis (sJIA) and Adult Onset Still’s Disease (AOSD)
Bruno Fautrel¹, STEPHANE MITROVIC², Arianna De Matteis³, Sara Bindoli⁴, Jordi Anton⁵, Alexandre Belot⁶, Claudia Bracaglia³, Tamas Constantin⁷, Lorenzo Dagna⁸, Alessandro de Bartolo⁹, Eugen Feist¹⁰, Dirk Foell¹¹, Marco Gattorno¹², Sophie Georgin-Lavialle¹³, Roberto Giacomelli¹⁴, Alexei Grom¹⁵, Yvan Jamilloux¹⁶, Katerina Laskari¹⁷, Calin Lazar¹⁸, Francesca Minoia¹⁹, Peter Nigrovic²⁰, Filipa Oliveira Ramos²¹, Seza Ozen²², Pierre Quartier Dit Maire²³, Piero Ruscitti²⁴, Erdal Sag²⁵, Sinisa Savic²⁶, Marie-Elise Truchetet²⁷, Sebastiaan Vastert²⁸, Tanita Wilhelmer²⁹, Carine Wouters³⁰, Loreto Carmona³¹ and Fabrizio De Benedetti³², ¹Sorbonne Université APHP, Paris, France, ²Pitie Salpetriere Hospital, Sorbonne University, APHP, Paris, France, ³IRCCS Ospedale Pediatrico Bambino Gesu', Rome, Italy, ⁴Rheumatology Unit, department of Medicine,University of Padova, Padova, Italy, ⁵Hospital Sant Joan de Déu, Pediatric Rheumatology Department, Universitat de Barcelona, Barcelona, Spain, ⁶Hospices Civils de Lyon, Collonges au mont d'or, France, ⁷Semmelweis University, Budapest, Hungary, ⁸Ospedale San Raffaele, Milano, Italy, ⁹PReS Patient Research Partner, Milan, Italy, ¹⁰Helios Department of Rheumatology and Clinical Immunology, Vogelsang-Gommern, Germany, ¹¹University Hospital Münster, Münster, Germany, ¹²UOC Reumatologia e Malattie Autoinfiammatorie, Genoa, Italy, ¹³AP-HP, Tenon hospital, Paris, France, ¹⁴Policlinico Universitario Campus Bio-Medico, Roma, Italy, ¹⁵Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ¹⁶Hospices Civils de Lyon, Lyon, France, ¹⁷Athens University Medical School, Athens, Greece, ¹⁸University of Medicine and Pharmacy, Cluj-Napoca, Romania, ¹⁹Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy, ²⁰Boston Children's Hospital, Boston, MA, ²¹Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal, ²²Hacettepe University Medical Faculty, Ankara, Turkey, ²³Necker Hospital, Paris Cedex 15, France, ²⁴University of L'Aquila, L'Aquila, Italy, ²⁵Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey, ²⁶Leeds University, Leeds, United Kingdom, ²⁷Bordeaux University Hospital, Bordeaux, France, ²⁸University Medical Center Utrecht, Utrecht, Netherlands, ²⁹EULAR Patient Research Partner, Bludenz, Austria, ³⁰Leuven University, Leuven, Belgium, ³¹Instituto de Salud Musculoesquelética (InMusc), Madrid, Spain, ³²Bambino Gesu Children's Hospital, Division of Rheumatology, Rome, Italy
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still's disease (AOSD) are supposed to be age counterparts of the same disease, but no consensus has…
Abstract Number: 1674 • ACR Convergence 2023
Severe Infections in Patients with VEXAS Syndrome: A Study from the French VEXAS Group
Benjamin de Valence de Minardiere¹, Marion Delaune², Yann Nguyen³, Vincent Jachiet⁴, Mael Heiblig⁵, Alexis Jean⁶, Pierrick Henneton⁷, stanislas Riescher-tuczkiewicz⁸, Philippe Guilpain⁷, Hervé Lobbes⁹, Guillaume Le Guenno¹⁰, Nicolas Schleinitz¹¹, Valentin Lacombe¹², Vincent Langlois¹³, Roderau Outh¹⁴, Julien Vinit¹⁵, Jean-Philippe Martellosio¹⁶, Paul Decker¹⁷, Alexandre Vlakos¹⁸, Thomas Moulinet¹⁹, Yannick Dieudonne²⁰, Adrien Bigot²¹, Louis Terriou²², Bertrand De Maleprade²³, Guillaume Denis²⁴, Jonathan Broner²⁵, Marie Kostine²⁶, Sébastien Humbert²⁷, Benjamin Terrier²⁸, Sophie Georgin-Lavialle²⁹, Olivier Fain³⁰, Arsène Mekinian¹, Marjolaine MORGAND¹, Thibault Comont² and Jerome Hadjadj¹, ¹Department of Internal Medicine, Hôpital Saint-Antoine, AP-HP, Paris, France, ²Toulouse University Hospital, Toulouse, France, ³Department of Internal Medicine, Hôpital Beaujon, AP-HP, Clichy, France., Montmorency, France, ⁴Service de médecine interne et Inflammation-Immunopathology-Biotherapy Department (DMU i3), Sorbonne Université, AP-HP, Hôpital Saint Antoine, Paris, France, ⁵Hematology, Hospices Civils de Lyon, Lyon-Sud Hospital, Pierre-Bénite, France, ⁶Internal Medicine Department, Bordeaux University, Faculty of Medicine, Bordeaux University Hospital, Bordeaux, France, ⁷CHU Montpellier, Montpellier, France, ⁸CHU de Nantes, Nantes, France, ⁹CHU de Clermont-Ferrand, Clermont-Ferrand, France, ¹⁰Internal Medicine Department, Clermont-Ferrand University, Faculty of Medicine, Estaing University Hospital, Clermont-Ferrand, France, ¹¹Aix Marseille university, AP-HM, Marseille, France, ¹²Internal Medicine Department, Anger Hospital, Clermont-Ferrand, France, ¹³Service de Médecine Interne, Hôpital Jacques Monod, Le Havre, France, ¹⁴Internal Medicine Department, Perpignan Hospital Center, Perpignan, France, ¹⁵Service de Médecine Interne, CH William Morey, Chalon sur Saône, France., Chalon sur Saône, France, ¹⁶Service de médecine interne, maladies infectieuses et tropicales, CHU de Poitiers, Poitiers, France, ¹⁷Nancy hospital, France, Nancy, France, ¹⁸Vesoul Hospital, Vesoul, France, ¹⁹Department of Internal Medicine, Centre hospitalier universitaire de Nancy, Nancy, France, ²⁰Department of Clinical Immunology and Internal Medicine, National Reference Centre for Systemic Autoimmune Diseases (CNR RESO), Strasbourg University Hospital, Strasbourg, France, ²¹Internal Medicine Department, Tours University, Faculty of Medicine, Tours University Hospital, Tours, France, ²²Service de Médecine Interne et Immunologie Clinique, CHU Lille, Lille, France, ²³Rouen hospital, France, Rouen, France, ²⁴Service d'hématologie, CH de Rochefort, Rochefort, France, ²⁵CHU de Nimes, Nimes, France, ²⁶Bordeaux University Hospital, Bordeaux, France, ²⁷Besançon University Hospital, Besançon, France, ²⁸Department of Internal Medicine, Hôpital Cochin, AP-HP, Paris, France, ²⁹AP-HP, Tenon hospital, Paris, France, ³⁰Hopital SAINT ANTOINE APHP, Paris, France
Background/Purpose: VEXAS (Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic) syndrome is an autoinflammatory monogenic disease caused by inactivating somatic mutations in the UBA1 gene and characterized…
Abstract Number: 2045 • ACR Convergence 2023
Treatment Response in a Cohort of Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV)
Ilaria Maccora¹, Arjun Sood², Grant Schulert³, Alexandra Duell³, Preston Land⁴, Cameron C Sapp², Jennifer Huggins³, Tiffany Nguyen², Megan Quilan-Waters³, Sumit Sharma⁵, Sunil Srivastava² and Sheila Angeles-Han⁶, ¹PhD student, in the Area of Drugs and Innovative Treatments, NeuroFARBA Department, University of Florence. Meyer Children's Hospital, Firenze, Italy, ²Cincinnati Eye Institute, Cincinnati, OH, ³Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Cincinnati Children's Hospital, Medical Center, Cincinnati, OH, ⁵Cleveland Clinic, Cleveland, OH, ⁶Cincinnati Children's Hospital, Cincinnati, OH
Background/Purpose: Pediatric uveitis often requires systemic immunomodulatory therapy (IMT) to prevent sight-threatening complications. Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare autoimmune condition caused…

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