Abstracts tagged "Autoinflammatory diseases"

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: 2576 • ACR Convergence 2025
Methotrexate Treatment of Arthritis Caused by Chikungunya Virus (MARCH) Study: Anti-inflammatory cytokine signals related to decreased arthritis disease activity over time
Alfonso Sucerquia¹, Jose Forero², Juan Alzate¹, Adrienne Poon³, Gary Firestein⁴, Larry Moreland⁵, Andres Cadena⁶, Jose Lara⁶, Octavio pizarro⁶, Jesus Godoy⁶, Liliana Encinales⁷, David Boyle⁸, Evelyn Mendoza⁹, Carlos Herrera¹⁰ and Aileen Chang³, ¹The George Washington University, Arlington, ²The George Washington University, Arlington, VA, ³The George Washington University, Washington, ⁴University of California, San Diego, San Diego, CA, ⁵University of Colorado, Denver, CO, ⁶Clinica de la Costa, Barranquilla, Colombia, ⁷Allied Research Society, Barranquilla, Colombia, ⁸University of California, San Diego, San Diego, ⁹Universidad Libre de Barranquilla, Barranquilla, Colombia, ¹⁰The George Washington University, Alexandria
Background/Purpose: The MARCH study evaluates the efficacy of methotrexate monotherapy in patients with chikungunya-associated arthritis and aims to elucidate its pathologic mechanism via cytokine analysis.…
Abstract Number: 2043 • ACR Convergence 2025
Renal Outcomes of Long-term Canakinumab in Patients with Adult Familial Mediterranean Fever (FMF) and Biopsy-Confirmed AA Amyloidosis
Büşra Fırlatan Yazgan¹, Gözde Sevgi Kart bayram¹, Buğu Bulat¹, Levent Kılıç¹, Tolga Yildirim², Umut Kalyoncu¹, Şule Apraş Bilgen¹, Ali İhsan Ertenli¹, Seref Rahmi Yilmaz² and Omer Karadag³, ¹Division of Rheumatology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey, Ankara, Turkey, ²Division of Nephrology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey, Ankara, Turkey, ³Division of Rheumatology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey
Background/Purpose: Canakinumab, an interleukin-1β inhibitor, has demonstrated efficacy in treating colchicine-resistant/intolerant familial Mediterranean fever (FMF). This study aims to assess the efficacy and safety of…
Abstract Number: 1651 • ACR Convergence 2025
Compound Heterozygosity for the Ile692del and Val726Ala Pathogenic MEFV Variants and Elevated IL-18 (CHIVE-18 syndrome) Is Distinct from Familial Mediterranean Fever (FMF) and Includes a Pronounced Response to Interferon Stimulation in Myeloid Cell Populations
Mary Maclean¹, Sabrina Helmold Hait², Cindy Phung³, Deborah Stone⁴, Sophie georgin-Lavialle⁵, Scott Canna⁶, Carl Esperanzate⁷, Amanda Ombrello⁸, Daniel Kastner⁹, Ivona Aksentijevich¹⁰ and Massimo Gadina¹¹, ¹NIH-NIAMS, Rockville, MD, ²NIAMS/NIH, Bethesda, MD, ³National Institute of Arthritis, Musculoskeletal, and Skin Diseases (NIAMS), Bethesda, MD, ⁴NIH, Bethesda, MD, ⁵Sorbonne university, Tenon hospital, DMU³ID, CEREMAIA, ERN RITA, Paris, France, ⁶Children's Hospital of Philadelphia, Philadelphia, PA, ⁷National Human Genome research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, ⁸National Institutes of Health, Rockville, MD, ⁹National Human Genome Research Institute, Bethesda, MD, ¹⁰¹⁰⁰, Bethesda, MD, ¹¹National Institute of Arthritis Musculoskeletal and Skin diseases, Bethesda, MD
Background/Purpose: Familial Mediterranean fever (FMF) is an autoinflammatory disease associated with biallelic pathogenic variants in the MEFV gene encoding the myeloid-restricted inflammasome sensor pyrin. The…
Abstract Number: 1158 • ACR Convergence 2025
Clinical and Genetic Features of CTLA-4 Haploinsufficiency : A Prospective Study in China
Guishan Liu¹, Jingyuan zhang², jin Xu², JiaYuan Dai² and Min Shen², ¹Peking union medical college hospital, Beijing, Beijing, China (People's Republic), ²Peking union medical college hospital, Beijing, China (People's Republic)
Background/Purpose: Heterozygous loss-of-function mutations in CTLA4 cause a spectrum of immune dysregulation, characterized by hypogammaglobulinemia, autoimmune cytopenias, and lymphoproliferation, yet penetrance and expressivity remain highly…
Abstract Number: 0257 • ACR Convergence 2025
Safety of Guselkumab in Inflammatory Bowel Disease Up to 1 Year: Integrated Safety Analysis of Phase 2 and 3 Studies in Crohn’s Disease and Ulcerative Colitis
Bruce E. Sands¹, Remo Panaccione², Silvio Danese³, Julián Panés⁴, Tadakazu Hisamatsu⁵, Geert D’Haens⁶, Rian Van Rampelbergh⁷, Mobolaji Olurinde⁸, Jacqueline Yee⁸, Karissa Lozenski⁹, Thomas Baker⁸, Shadi Yarandi⁸, Matthew Germinaro⁸, Marion L. Vetter⁸, Hewei Li⁸, Mauricio Rosas Ballina¹⁰, Jessica R. Allegretti¹¹, Anita Afzali¹² and David T. Rubin¹³, ¹Icahn School of Medicine at Mount Sinai, New York, NY, USA, NY, ²University of Calgary, Calgary, AB, Canada, AB, Canada, ³Gastroenterology and Endoscopy, IRCCS Ospedale San Raffaele and University Vita-Salute San Raffaele, Milan, Italy, Milano, Italy, ⁴Hospital Clínic de Barcelona, IDIBAPS, CIBERehd, Barcelona, Spain, Barcelona, Spain, ⁵Kyorin University School of Medicine, Tokyo, Japan, Tokyo, Japan, ⁶Amsterdam University Medical Centers, Amsterdam, The Netherlands, D’Haens, Swaziland, ⁷Johnson & Johnson, Antwerp, Belgium, Antwerp, Belgium, ⁸Johnson & Johnson, Spring House, PA, USA, PA, ⁹Johnson & Johnson, Horsham, PA, ¹⁰Actelion Research & Development, Allschwil, Switzerland, Allschwil, Switzerland, ¹¹Division of Gastroenterology, Hepatology, and Endoscopy, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA, MA, ¹²University of Cincinnati, College of Medicine, Cincinnati, OH, USA, OH, ¹³University of Chicago Medicine Inflammatory Bowel Disease Center, Chicago, IL, USA, IL
Background/Purpose: Guselkumab (GUS), a dual-acting interleukin (IL)-23 inhibitor that potently neutralizes IL-23 and binds to CD64 (a receptor on cells that produce IL-23), is currently…
Abstract Number: 2428 • ACR Convergence 2025
Differences in Dyspigmentation and Scarring Across Cutaneous Lupus Erythematosus Categories and Subtypes
Shae Chambers¹, Aretha On², Xiwei Yang², Lais Lopes Almeida Gomes¹, Touraj Khosravi-Hafshejani³, Hammad Ali³, Rui Feng⁴ and Victoria Werth¹, ¹University of Pennsylvania, Philadelphia, PA, ²Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, ³Department of Dermatology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, U.S./Corporal Michael J. Crescenz Veterans Affairs Medical Center, Philadelphia, U.S., Philadelphia, PA, ⁴Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania, Philadelphia, Pennsylvania, Philadelphia, PA
Background/Purpose: Cutaneous lupus erythematosus (CLE) is a chronic autoimmune disease marked by skin lesions that can vary in appearance and severity. Subacute cutaneous erythematosus (SCLE),…
Abstract Number: 2037 • ACR Convergence 2025
The Largest International Cohort Study of HA20 Reveals Novel Genetic Architecture and Age-Dependent Phenotypic Evolution
Manuel Carpio Tumba¹, Tingyan He², Jun Wang³, Elizabeth Kairis¹, Kyr Goyette¹, Akuti Kethri¹, Urekha Karri⁴, Atif Towheed¹, Jun Yang⁵, Qing Zhou⁶ and Daniella Schwartz¹, ¹University of Pittsburgh, Pittsburgh, PA, ²Shenzhen Children's Hospital, Shenzhen, China (People's Republic), ³Zhejiang University School of Medicine, Zhejiang, China (People's Republic), ⁴School of public health, Pittsburgh, PA, ⁵Rheumatology and Immunology Department of Shenzhen Children's Hospital, Shenzhen, ⁵¹⁸¹⁰⁰, China., Shenzhen, China (People's Republic), ⁶Zhejiang University School of Medicine, Hangzhou, China (People's Republic)
Background/Purpose: Haploinsufficiency of A20 (HA20) is a monogenic autoinflammatory disease caused by loss-of-function (LOF) mutations in TNFAIP3. HA20 was initially described as an early-onset form…
Abstract Number: 1625 • ACR Convergence 2025
Factor VIII as a Potential Biomarker of Disease Activity in Relapsing Polychondritis
Ashika Ajitumar¹, Eric Robbins², Yusuf Mastoor² and Marcela ferrada³, ¹University of Maryland, baltimore, MD, ²University of Maryland, baltimore, ³University of Maryland, Bethesda, MD
Background/Purpose: Relapsing polychondritis (RP) is a rare autoimmune disease marked by episodic inflammation of cartilaginous tissues. A major challenge in its clinical management is the…
Abstract Number: 1153 • ACR Convergence 2025
New Disease Classification in the Block? A 5-year Retrospective Review on Clinical Profiles and Mortality Outcomes of Patients Presenting with Hematoinflammatory Syndromes at a University Center in Florida
Cristine Kuzhuppilly Arcilla¹, Gabriel Kirsch², Michael Cargill² and Gurjit Kaeley³, ¹University of Florida Jacksonville, Jacksonville, FL, ²University of Florida - Jacksonville, Jacksonville, FL, ³UF COM-J, Ponte Vedra Beach, FL
Background/Purpose: The novel diagnosis of VEXAS in 2020 led to the proposed possibility of a new category of hematoinflammatory syndromes linking clinically overlapping hematologic and…
Abstract Number: 0255 • ACR Convergence 2025
Clearing the Smoke: Association Between Cannabis Use and Autoimmune Disease Incidence in a Retrospective Cohort Analysis
Justin Riley Lam¹, Emmanuel Otabor², Laith Alomari², Esteban Kosak Lopez², Maxim Barnett² and Shahrzad Abdollahi³, ¹Albert Einstein Medical Center, Philadelphia, PA, ²Jefferson Einstein Hospital Philadelphia, Philadelphia, PA, ³Jefferson Einstein Hospital, Philadelphia, PA
Background/Purpose: Cannabis use has increased substantially in the past decades, with legalization expanding across the U.S. Despite its known therapeutic potential, the immunomodulatory effects of…

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