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Abstracts tagged "Autoinflammatory diseases"

  • Abstract Number: 0269 • ACR Convergence 2025

    Clinical Landscape and Severity Markers of VEXAS Syndrome in a Spanish Cohort: Findings from VEXASSER Study Group

    Paula García-Escudero1, Marta López2, Berta Magallares3, Dolly Viviana Fiallo Suárez4, Diego Dios Santos5, César Antonio Egües Dubuc6, Santos Castañeda7, Alicia Garcia8, Isla Morante Bolado9, Elena María Oliver García10, Clara Garcia Belando11, Cristina Corrales12, Francisco Javier Toyos13, Judit Font-Urgelles14, Meritxell Salles Lizarzaburu15, Carolina Merino16, Irene Carrion17, Jose Angel Hernandez18, Lourdes Villalobos19, Alina-Lucica Boteanu20, Beatriz Frade Sosa21, cristiana Sieiro22, Irene Monjo Henry23, Ernesto Trallero24, Eugenia Enriquez25, Maria Rodriguez26, Elena Riera Alonso27, Marta Ibañez28, Delia Reina29, Rafael Benito Melero González30, Giuliano Boselli31, Alberto Mariano32, Ignacio Vázquez Gómez33, Jose Alberto Miranda34, Clara Moriano35, Elena Aurrecoechea36, Paloma Vela Casasempere37, Iñigo Rúa-Figueroa38 and Jaime Calvo39, 1Hospital Universitario Álava, Bilbao, Spain, 2Complex Hospitalari Universitari Moisés Broggi, Barcelona, Spain, 3Hospital de Sant Pau, Bareclona, 4H.U. Doctor Negrín, Gran Canarias, 5C. H. U. A Coruña, A Coruña, Spain, 6Rheumatology Department, Donostia University Hospital., San Sebastian, Spain, 7Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, 8Rheumatologist, La Laguna, Spain, 9Rheumatology, Hospital General Sierrallana, Torrelavega, Spain., Santander, 10H.C. U. Lozano Blesa, Zaragoza, 11H.C. U. Virgen de la arrizaca, Murcia, 12HOSPITAL UNIVERSITARIO MARQUES DE VALDECILLA, Santander, Spain, 13Virgen Macarena University Hospital,, Sevilla, Spain, 14Hospital Universitari Germans Trias i Pujol, Badalona, Spain, 15Rheumatology Department, Althaia Xarxa Assistencial Universitària Manresa Manresa (Spain)., Manresa, Spain, 16Rheumatology department. Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda (Madrid), Madrid, Spain, 17Hospital del Mar, Barcelona, Spain, 18Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran CanariaHospital, Spain, 19Ramon y Cajal Hospital, MADRID, Spain, 20H.U. Ramón y Cajal, Madrid, Spain, 21Hospital Clinic de Barcelona, Barcelona, Catalonia, Spain, 22Univrsity of Manchester, Manchester, United Kingdom, 23Hospital Universitario La Paz, Madrid, Spain, 24H. U. Vall d'Hebron, Barcelona, 25Clínica Universidad de Navarra, Madrid, Spain, 26H. Clínico San Carlos, Madrid, Spain, 27Hospital Universitari Mùtua Terrassa, Terrassa, Spain, 28Hospital Universitario de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain, 29Complex Hospitalari Moisès Broggi, Barcelona, Spain, 30C. H. U. de Ourense, Ourense, 31Rheumatology Division, Hospital Universitario Miguel Servet , Zaragoza, Spain, Zaragoza, Aragon, Spain, 32Virgen del Rocío University Hospital, Sevilla, Spain, 33H.U. Doctor Peset, Valencia, 34C. H. U. Lucus Augusti, Lugo, Spain, 35Hospital León, LEON, Castilla y Leon, Spain, 36H. Sierrallana, Santander, 37Hospital General Universitario Alicante, Alicante, Comunidad Valenciana, Spain, 38Hospital de Gran Canaria Doctor Negrin, Las Palmas GC, Spain, 39Department of Rheumatology, Hospital Universitario Araba, School of Medicne, Universidad del País Vasco, BIOARABA Health Research Institute, Vitoria, Spain, Vitoria, Pais Vasco, Spain

    Background/Purpose: VEXAS syndrome is a rare disease caused by somatic mutations in UBA1 gene. Different mutations in this gene appear to be associated with specific…
  • Abstract Number: 2582 • ACR Convergence 2025

    Inflammatory Cell Death and Impaired Efferocytosis Drive Monocyte and Macrophage Dysfunction in VEXAS Syndrome.

    Paul Breillat1, Samuel Magaziner2, Stéphane Camus3, Lea Dionet4, Quentin Delcros5, Federica Pallotti6, Kevin Chevalier5, Margot Poux7, Olivia Lenoir8, Pierre-Louis Tharaux5, Olivier Kosmider9, David Beck10 and Benjamin Terrier11, 1INSERM, PARIS 17, Ile-de-France, France, 2Center for Human Genetics and Genomics, NYU Grossman School of Medicine, New York, NY, USA., New York, NY, 3Université de Paris, INSERM UMR970, Paris Cardiovascular Research Center, Paris, France., PARIS, France, 4INSERM, Paris, France, 5Paris Cardiovascular Research Center, Université Paris Cité, INSERM U970, Paris, France, PARIS, France, 6Internal Medicine and Clinical Immunology, Rennes, France, 7Université de Paris, PARIS 04EME, France, 8Paris Cardiovascular Research Center, Université Paris Cité, INSERM U970, Paris, France, PARIS, Ile-de-France, France, 9AP-HP, Hopital Cochin, Institut Cochin, CNRS UMR8104, INSERM U1016 Université Paris Cité Paris France., PARIS, France, 10Center for Human Genetics and Genomics, NYU Grossman School of Medicine. Division of Rheumatology, Department of Medicine, NYU Grossman School of Medicine. Department of Biochemistry and Molecular Pharmacology, NYU Grossman School of Medicine, New York, NY, USA, New York, NY, 11Cochin Hospital, Paris, France

    Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a life-threatening systemic disorder characterized by inflammation and increased risk of opportunistic infections. VEXAS results from…
  • Abstract Number: 2044 • ACR Convergence 2025

    Infections and Associated Mortality in VEXAS Syndrome: A Systematic Review and Meta-Analysis

    Oyku Zeynep Avarbek1, Ozlem Arikan2, Aysu Tatari3, Furkan Ak4, Bengisu Gur5, Sinem Nursel Duzenci6, Yasin Taha Tuncar7, Mustafa Sivri8, Mustafa Ovayolu9 and Miray Kurtca10, 1Bezmialem Vakif University, Faculty of Medicine, Istanbul, Türkiye, Istanbul, Turkey, 2Istanbul Aydin University, Faculty of Medicine, Istanbul, Türkiye, Istanbul, Turkey, 3Pamukkale University, Faculty of Medicine, Denizli, Türkiye, Denizli, Turkey, 4Sofia University St. Kliment Ohridski, Faculty of Medicine, Sofia, Bulgaria, Sofia, Bulgaria, 5Istanbul University, Istanbul Faculty of Medicine, Istanbul, Türkiye, Istanbul, Turkey, 6Balikesir University, Faculty of Medicine, Balikesir, Türkiye, Balikesir, Turkey, 7Akdeniz University, Faculty of Medicine, Antalya, Türkiye, Istanbul, Turkey, 8Gazi University, Department of Emergency Medicine, Ankara, Türkiye, Ankara, Turkey, 9Hacettepe University, Faculty of Medicine, Ankara, Türkiye, Ankara, Turkey, 10Richmond University Medical Center, Department of Internal Medicine, Staten Island, NY

    Background/Purpose: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a late-onset, monogenic autoinflammatory disorder driven by somatic mutations in the UBA1 gene of hematopoietic…
  • Abstract Number: 1665 • ACR Convergence 2025

    Comparative Effectiveness of Biologic Versus Conventional Therapy in Uveitis with Systemic Rheumatic Diseases: Real-World Evidence from a Propensity-Matched Cohort

    Hanieh Akbari1 and shahrzad Abdollahi2, 1Jefferson Einstein Montgomery Medical Center, Norristown, PA, 2Jefferson Einstein Philadelpha, Philadelphia, PA

    Background/Purpose: Uveitis is a vision-threatening manifestation of systemic rheumatic diseases. While conventional immunosuppressants are typically first-line, biologics are often reserved for refractory cases. Long-term real-world…
  • Abstract Number: 1159 • ACR Convergence 2025

    IL-18 Correlates with Pouchot Score and Inflammatory Biomarkers in Adult-Onset Still’s Disease: Insights From a Repeated Measures Study

    Hadeel Abdul-Rehman1, Karen Gambina2 and Bella Mehta3, 1Hospital for Special Surgery, New York, NY, 2Columbia University Medical Center, Islip, NY, 3Hospital for Special Surgery, Weill Cornell Medicine, Jersey City, NJ

    Background/Purpose: Adult-Onset Still’s Disease (AOSD) is a rare systemic inflammatory disease. Interleukin-18 (IL-18) levels are significantly elevated in AOSD patients¹ and may be a promising…
  • Abstract Number: 0266 • ACR Convergence 2025

    Chronic PPI Use Association with Development of Autoimmune Conditions: Retrospective Cohort Study

    Nanuka Tsibadze1, Irakli Tskhakaia1, Rusudan Tskitishvili2 and Fabian Rodriguez3, 1Jefferson Health - Einstein, Philadelphia, PA, 2Virtua Health, Camden, NJ, 3Jefferson Health - Einstein, Philadelphia

    Background/Purpose: Proton pump inhibitors (PPIs) are one of the most prescribed medications around the world. Recent research has increasingly identified adverse reactions in patients with…
  • Abstract Number: 0293 • ACR Convergence 2024

    Assessment of Skin Cancer Risk in Autoimmune Diseases: A Multivariate Analysis Using a National Inpatient Database

    Sami Rabah and Xiangyi Kang, Lincoln Medical Center, New York, NY

    Background/Purpose: Autoimmune diseases are known to be associated with an increased risk of many types of cancers. This study investigates the association between different types…
  • Abstract Number: 0890 • ACR Convergence 2024

    Pervasive Inflammation Poisons Hematopoiesis and Drives Clonal Dominance in VEXAS Syndrome

    Corrado Campochiaro1, Molteni raffaella2, Martina Fiumara3, Alessandro Tomelleri4, Elisa Diral5, Davide Stefanoni6, Angelica Varesi6, Alessandra Weber7, Roberta Alfieri8, Luisa Albano7, Maddalena Panigada6, Eleonora Cantoni6, Daniele Canarutto9, Luca Basso-Ricci10, Pamela Quaranta7, Angelo D’Alessandro11, Gregorio Bergonzi12, Marco Matucci-Cerinic13, Raffaella Di Micco3, Alessandro Aiuti3, Fabio Ciceri12, Ivan Merelli3, Lorenzo Dagna14, Serena Scala3, Simone Cenci6, Luigi Naldini3, Samuele Ferrari3 and Giulio Cavalli15, 1IRCCS San Raffaele Hospital. Vita-Salute San Raffaele University, Milan, Milan, Italy, 2Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Italy, 3San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Italy, 4Unit of Immunology, Allergology and Rare Diseases, IRCCS Ospedale San Raffaele, Milano, Italy, 5Unit of Haematology and Bone Marrow Transplantation, IRCCS San Raffaele Hospital, Milan, Italy, Milan, Lombardia, Italy, 6Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Lombardia, Italy, 7San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy, 8Institute for Biomedical Technologies, National Research Council, Segrate, Italy, 9Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy, 10San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milano, Italy, 11Department of Biochemistry and Molecular Genetics, University of Colorado Denver - Anschutz Medical Campus, Autora, CO, 12Unit of Haematology and Bone Marrow Transplantation, IRCCS San Raffaele Hospital, Milan, Italy, Milan, Italy, 13University San Raffaele Milano, Milano, Milan, Italy, 14Ospedale San Raffaele, Milano, Italy, 15Vita-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. Our study aims at uncovering pathophysiology…
  • Abstract Number: 1214 • ACR Convergence 2024

    All-Cause Mortality in Patients with Chronic Musculoskeletal Pain Using Pregabalin or Duloxetine: A Retrospective Cohort Study in US Veterans

    Sachalee Campbell1, Laura L. Daniel2, Alyson L. Dickson3, Otis Wilson3, C. Michael Stein3, Puran Nepal4, Adriana M. Hung5 and Cecilia P. Chung2, 1University of Miami/ Jackson Health System, Miami, FL, 2University of Miami, Miami, FL, 3Vanderbilt University Medical Center, Nashville, TN, 4Vanderbilt University Medical Center, Vanderbilt, TN, 5Veterans Administration Tennessee Valley Healthcare System, Nashville, TN

    Background/Purpose: Musculoskeletal pain affects more than 10% of the general population. Recent trends in managing chronic musculoskeletal pain have favored non-opioid analgesics, for example, pregabalin,…
  • Abstract Number: 1997 • ACR Convergence 2024

    Features of interleukin-1 and interleukin-6 Inhibitor (IL-1i/IL-6i) Related Severe Delayed Adverse Reactions in Subjects with or Without Reaction-risk Associated HLA-DRB1*15

    Vivian E Saper1, Kazutoyo Osoegawa1, Ruud Verstegen2, Marcelo A Fernandez Vina1 and Lu Tian1, and Drug Hypersensitivity Consortium, 1Stanford University, Stanford, CA, 2The Hospital for Sick Children, Toronto, ON, Canada

    Background/Purpose: A very serious drug-related adverse event is reported with inhibitors of IL-1 and IL-6 (IL-1i/IL6i). This reaction scores as drug reaction with eosinophilia and…
  • Abstract Number: 2199 • ACR Convergence 2024

    Mycobacterial Infection and Renal and Bladder Malignancy in 2 IFNopathy Patients on High Doses of JAK Inhibitors

    Sara Alehashemi1, Kader Cetin Gedik2, Cassandra Calabrese3, Sherry Nguyen4, Alexi Baumgardner4, Katsiaryna Uss4, Kip Friend4, Ariane Soldatos5, Adriana Almeida de Jesus6 and Raphaela Goldbach-Mansky7, 1NIH/NIAID/TADS, Potomac, MD, 2Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Pittsburgh, PA, 3Cleveland Clinic Foundation, Cleveland Heights, OH, 4Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Bethesda, MD, 5NINDS/NIH, Bethesda, MD, 6NIAID, NIH, Silver Spring, MD, 7Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Potomac, MD

    Background/Purpose: Autoinflammatory Type I Interferonopathies (IFNopathies) include STINGopathies (e.g., SAVI and COPA syndrome), proteasomopathies (e.g., CANDLE/Proteasome associated autoinflammatory syndrome (PRAAS), and oligonucleotidopathies (e.g., AGS: Aicardi-Goutières…
  • Abstract Number: 0294 • ACR Convergence 2024

    Obesity and Risk of Autoimmune Diseases: Insights from the National Inpatient Sample

    Sami Rabah and Xiangyi Kang, Lincoln Medical Center, New York, NY

    Background/Purpose: Obesity has been implicated as a risk factor in developing various cardiovascular, respiratory, and other health complications. However, the link between obesity and autoimmune…
  • Abstract Number: 0917 • ACR Convergence 2024

    Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Mutations in Familial Mediterranean Fever

    Aysima Hacisuleyman1, Ahmet Gul2 and Burak Erman3, 1Department of Computational Biology, University of Lausanne, Lausanne, Switzerland, 2Division of Rheumatology, Department of Internal Medicine, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, Istanbul, Turkey, 33Chemical and Biological Engineering, Koc University, Istanbul, Turkey

    Background/Purpose: Predicting the pathogenicity of amino acid substitutions is crucial for understanding the functional consequences of genetic variations. Several computational methods frequently used so far…
  • Abstract Number: 1215 • ACR Convergence 2024

    Mortality in US Veterans with Musculoskeletal Conditions Using Cyclobenzaprine or Baclofen

    Maria Intriago1, Puran Nepal2, Laura L. Daniel1, Alyson L. Dickson3, Otis Wilson3, C. Michael Stein3, Adriana M. Hung4 and Cecilia P. Chung1, 1University of Miami, Miami, FL, 2Vanderbilt University Medical Center, Vanderbilt, TN, 3Vanderbilt University Medical Center, Nashville, TN, 4Veterans Administration Tennessee Valley Healthcare System, Nashville, TN

    Background/Purpose: Cyclobenzaprine is a commonly-used centrally-acting muscle relaxant; it has been approved for short-term treatment of muscle spasms associated with acute musculoskeletal pain despite limited…
  • Abstract Number: 1998 • ACR Convergence 2024

    Association Between Small Interfering RNA Therapy and Autoimmune Diseases: U.S. Prospective Cohort Study

    Liang Sien Chen, Chang Gung Memorial Hospital, Linkou Branch, Taoyuan City, Taoyuan, Taiwan (Republic of China)

    Background/Purpose: Monoclonal antibody (mAb) therapy and small interfering RNA (siRNA) therapy represent two cutting-edge approaches in treating various diseases, such as hyperlipidemia. Our study aims…
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