Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 2054 • ACR Convergence 2024
Phenotypical Differences in VEXAS Syndrome, Where Are We a Year Later? Results from a National Cohort Focused on Rheumatological Patients
Paula García Escudero¹, Marta López I Gómez², Berta Magallanes López³, Diego Dios Santos⁴, Francisco Javier Toyos Sáenz de Miera⁵, Alicia García Dorta⁶, José Ángel Hernández Beriain⁷, Íñigo Rúa-Figueroa⁸, cristiana sieiro santos⁹, Elvira Díez Álvarez¹⁰, Marta Ibáñez Martínez¹¹, Beatriz Frade-Sosa¹², Judit Font Urgelles¹³, Meritxell Sallés Lizarzaburu¹⁴, Elena Riera Alonso¹⁵, Ernesto Trallero Araguás¹⁶, Eugenia Enríquez Merayo¹⁷, Maria Rodriguez-Laguna¹⁸, irene monjo¹⁹, Carolina Merino²⁰, Paloma Vela-Casasempere²¹, Ignacio Vázquez Gómez²², Jose Alberto Miranda Filloy²³, Rafael Benito Melero-Gonzalez²⁴, Clara Garcia Belando²⁵, Giuliano Boselli²⁶, Alina Lucica Boteanu²⁷, Dolly Viviana Fiallo Suárez²⁸, Cristina Corrales Selaya²⁹, ALBERTO MARIANO RUIZ ROMAN³⁰ and Jaime Calvo-Alén³¹, ¹Hospital Universitario Araba, Vitoria, ²Hospital Universitario Alava, Vitoria, Pais Vasco, Spain, ³Hospital de la Santa Creu i Sant Pau, Barcelona, ⁴C. H. U. A Coruña, C. H. U. A Coruña, ⁵H. U. Virgen Macarena, H. U. Virgen Macarena, ⁶Rheumatologist, La Laguna, Spain, ⁷Rheumatology Department. Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran C, Spain, ⁸Department of Rheumatology, Hospital Universitario Doctor Negrín, Las Palmas de Gran Canaria, Las Palmas GC, Spain, ⁹Rheumatology Department, Complejo Asistencial Universitario de León, León, Spain, Leon, Spain, ¹⁰Complejo Asistencial Universitario de León, León, Spain, ¹¹Hospital Clínico Universitario de Salamanca, Salamanca, Spain, ¹²Hospital Clinic de Barcelona, Barcelona, Spain, ¹³Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹⁴Althaia Xarxa Assistencial Universitària Manresa, Manresa, Catalonia, Spain, ¹⁵Mutua de Terrasa, Barcelona, ¹⁶Hospital Vall D'Hebron, Barcelona, Spain, ¹⁷Hospital 12 de Octubre, Madrid, ¹⁸Resident in Rheumatology, Madrid, Spain, ¹⁹University Hospital La Paz, Madrid, Spain, ²⁰Hospital Universitario Puerta de Hierro Majadahonda., Majadahonda (Madrid), Spain, ²¹Hospital General Universitario Alicante, Alicante, Spain, ²²H. U. Dr. Peset, Valencia, ²³C. H. U. Lucus Augusti, Lugo, Spain, ²⁴CHU Ourense, O Carballino, Spain, ²⁵H. C. U. Virgen de la Arrixaca, Murcia, ²⁶hospital miguel servet, zaragoza, Aragon, Spain, ²⁷H.U. Ramón y Cajal, Madrid, Spain, ²⁸H. U. de Gran Canaria. Dr. Negrin, H. U. de Gran Canaria, ²⁹Rheumatology, Marques de Valdecilla University Hospital. IDIVAL, Santander, Cantabria, Spain, ³⁰Hospital Universitario Juan Ramón Jiménez, Huelva, Spain, ³¹Department of Rheumatology, Hospital Araba, Vitoria, Pais Vasco, Spain
Background/Purpose: VEXAS syndrome is an autoinflammatory disorder caused by a mutation in the UBA1 gene, which leads to a heterogeneous clinical presentation and progressive bone…
Abstract Number: PP09 • ACR Convergence 2024
Finding the Balance: Regaining My Strength While Living with Sjögren’s & POTS
Robert Fearon, Sjögren's Foundation, Reston, VA
Background/Purpose: Like many suffering from autoimmune diseases, my diagnosis was not straightforward and took nearly 13 years to get answers. I first started experiencing an…
Abstract Number: 0081 • ACR Convergence 2024
The Axial Spondyloarthritis Risk Variant CARD9 S12N Enhances Neutrophil-mediated Th Responses
Hillary Struthers¹, Kofi Asare-Konadu², Emily Vance¹ and Ruth Napier³, ¹Oregon Health & Science University, Portland, OR, ²Department of Molecular Microbiology and Immunology, Oregon Health & Science University, Portland, OR, ³Department of Molecular Microbiology and Immunology and Division of Arthritis and Rheumatic Disease, Oregon Health & Science University, VA Portland Health Care System, Portland, OR
Background/Purpose: Axial spondyloarthritis (axSpA) is a type of inflammatory arthritis that primarily affects the entheses of the spine and/or sacroiliac joints. The cause of axSpA…
Abstract Number: 0570 • ACR Convergence 2024
Prevalence of Comorbidities and Racial Disparities in Anterior Uveitis Risk Among Ankylosing Spondylitis Patients
Halah Alfatlawi¹, abdulmajeed alharbi², eun seo kwak², rawnag el sheikh² and nezam altorok², ¹the university of toledo, Toledo, OH, ²the university of toledo, Toledo
Background/Purpose: Ankylosing spondylitis (AS) is a chronic inflammatory condition primarily affecting the axial spine, commonly associated with extra-articular manifestations such as anterior uveitis (AU). Racial…
Abstract Number: 1120 • ACR Convergence 2024
Long-Term Echocardiographic Findings in Idiopathic Recurrent Pericarditis Patients Treated with Anakinra
Zeynep Toker Dincer¹, Damla Raimoglu², Erkin Yilmaz³, Ayten Dag¹, Sejla Karup⁴, Melike Melikoglu¹ and Serdal Ugurlu⁵, ¹Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ²Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Department of Cardiology, Istanbul, Turkey, ³Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey, ⁴Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ⁵Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Idiopathic recurrent pericarditis (IRP) is characterized by recurrent pericarditis attacks, and autoinflammatory pattern has been highlighted due to similarities in both clinical features and…
Abstract Number: 1886 • ACR Convergence 2024
Heterogeneity of VEXAS Syndrome: A Multicenter Case-series of 299 Cases from the French VEXAS Study Group (FRENVEX)
Sophie Georgin-lavialle¹, Benjamin Terrier², Vincent Jachiet³, Rim Bourguiba⁴, jerome HAdjaj⁵, olivier Kosmider⁶ and Arsene Mekinian⁷, and French VEXAS study group, ¹Sorbonne Université, Department of internal medicine, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France, ²Service de Médecine interne, Hôpital Cochin, AP-HP, Paris, Ile-de-France, France, ³Service de médecine interne, AP-HP, Hôpital Saint Antoine, Sorbonne Universite, Paris, France., Paris, France, ⁴Hopital des Forces de sécurité de l'interieur, La Marsa, Tunisia, ⁵Saint antoine APHP, Paris, France, ⁶Hopital Cochin, Paris, France, ⁷Saint Antoine University Hospital, Paris, France
Background/Purpose: VEXAS syndrome is a monogenic somatic autoinflammatory syndrome associated with UBA1 mutations. Objective. To describe clinical characteristics, laboratory findings, main treatments and outcomes of…
Abstract Number: 2152 • ACR Convergence 2024
Factors Associated with Health-related Quality of Life in Adults with SAPHO and Chronic Nonbacterial Osteomyelitis – a Cross Sectional Analysis from the SAPHO-CNO Study
Aleksander Lenert¹, Helena Abodeely¹, Karmela Kim Chan², Sandy Hong³, Arundathi Jayatilleke⁴, Courtney Kremer⁵, Emma Leisinger¹, Petar Lenert⁶, Melissa Oliver⁷, T. Shawn Sato⁸, Melanie Smith², Thomason Jenna⁹, Yongdong (Dan) Zhao¹⁰, Jonathan Templin¹, Robyn Domsic¹¹, Mary Vaughan-Sarrazin¹, Daniel Solomon¹² and Polly Ferguson¹³, ¹University of Iowa, Iowa City, IA, ²Hospital For Special Surgery, New York, NY, ³University of Iowa Stead Family Children's Hospital, Iowa City, IA, ⁴Temple University, Philadelphia, PA, ⁵University of Iowa Stead Family Children's Hospital, Solon, Iowa, IA, ⁶University of Iowa Hospitals and Clinics, Iowa City, IA, ⁷Indiana University, Indianapolis, IN, ⁸University of Iowa, Iowa City, ⁹University of Washington, Division of Rheumatology, Seattle, WA, ¹⁰University of Washington, Redmond, WA, ¹¹Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, ¹²Brigham and Women's Hospital, Newton, MA, ¹³University of Iowa Carver College of Medicine, Iowa City, IA
Background/Purpose: Health-related quality of life (HRQOL) is decreased in individuals with chronic rheumatic diseases (CRD) yet remains undefined in adults with SAPHO syndrome and chronic…
Abstract Number: PP10 • ACR Convergence 2024
Walking Away from Arthritis Pain: Exercise Helped Me Manage Sarcoidosis and Osteoarthritis Physically and Emotionally
Bridget Kelly, Hospital for Special Surgery, Rockville Centre, NY
Background/Purpose: In 2004, we moved to a new home with 2 small children, when I started experiencing terrible joint pain. For 2 years I was…
Abstract Number: L01 • ACR Convergence 2023
Analysis of 245,388 Diverse Participants in the NIH All of Us Cohort Identifies VEXAS Resiliency in UBA1 M41L Somatic Mutation Carriers
Robert Corty¹ and Alexander Bick², ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University, Nashville, TN
Background/Purpose: VEXAS syndrome is a recently-discovered systemic auto-inflammatory disease caused by somatic mutation at position 41 in the X-linked gene UBA1.1 First, 25 older men…
Abstract Number: L03 • ACR Convergence 2023
Efficacy and Safety of Targeted Therapies in VEXAS Syndrome: Retrospective Study from the French VEXAS Group
Jerome Hadjadj¹, Yann Nguyen¹, Dalila Mouloudji¹, Rim Bourguiba¹, Mael Heiblig², Aloui Hassina¹, Valentin Lacombe³, Samuel Ardois⁴, Corrado Campochiaro⁵, Alexandre Maria⁶, Thibault Comont⁷, Estibaliz Lazaro⁸, Francois Lifermann⁹, Guillaume Le Guenno¹⁰, Herve Lobbes¹⁰, Roderau Outh¹¹, Julien Campagne¹², Cyrille Coustal⁶, Alice Garnier¹³, Yvan Jamilloux², Aurore Meyer¹⁴, Noemie Abisror¹⁵, Olivier Kosmider¹, Vincent Jachiet¹, Olivier FAIN¹⁶, Benjamin Terrier¹⁷, Arsene Mekinian¹ and Sophie Georgin-Lavialle¹⁸, ¹APHP, Paris, France, ²Lyon Hospital, Lyon, France, ³Angers Hospital, Angers, France, ⁴Rennes Hospital, Rennes, France, ⁵San Raffaele Scientific Institute, Milan, Italy, ⁶Montpellier Hospital, Montpellier, France, ⁷Oncopole Toulouse, Toulouse, France, ⁸Bordeaux Hospital University, Pessac, France, ⁹Dax Hospital, Dax, France, ¹⁰Clermont Hospital, Clermont Ferrand, France, ¹¹Perpignan Hospital, Perpignan, France, ¹²Hpital Robert Schuman, Metz, France, ¹³Nantes Hospital, Nantes, France, ¹⁴Strasbourg Hospital, Strasbourg, France, ¹⁵Internal Medicine Saint Antoine Hospital, Paris, France, ¹⁶Hopital Saint Antoine APHP, Paris, France, ¹⁷Cochin Hospital, Paris, France, ¹⁸AP-HP, Tenon hospital, Paris, France
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a monogenic disease of adults due to acquired somatic mutations of the UBA1 gene. Patients…
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…
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…

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