Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0030 • ACR Convergence 2025
Immune-related Diagnoses Associated with NOD2 Variants in Human Subjects: A Phenome-wide Association Study
John Davis¹, Elizabeth Atkinson¹, Vanessa Kronzer¹, Cynthia Crowson², Afsaneh Alavi³, John Damianos¹, Loftus Edward¹, Joseph Murray¹, Ann Moyer¹ and Filippo Pinto e Vairo¹, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic, Stewartvillle, MN, ³Department of Dermatology, Mayo Clinic, Rochester, MN
Background/Purpose: The nucleotide-binding oligomerization domain-containing protein 2 (NOD2) gene is associated with risk for several inflammatory diseases, including Crohn disease, Blau syndrome, and Yao syndrome…
Abstract Number: 2141 • ACR Convergence 2025
Treatment of Refractory Still’s/Systemic Juvenile Idiopathic Arthritis Lung Disease with the bi-specific IL-1Beta/IL-18 neutralizing antibody MAS825
Hallie Carol¹, Monica Manglani², Abass Noor², Edward Behrens³, Jon Burnham⁴, Jessica Lee², Jordan Moreno², Alexandra Chop⁵, Kader Cetin Gedik⁶, Catherine Poholek⁷, Ginger Janow⁸, Lindsay Waqar-Cowles¹ and Scott Canna¹, ¹Children's Hospital of Philadelphia, Philadelphia, PA, ²Children's Hospital of Philadelphia, Philadelphia, ³CHOP, West Chester, PA, ⁴Children's Hospital of Philadelphia, Bryn Mawr, PA, ⁵UPMC, Pittsburgh, PA, ⁶UPMC Children's Hospital of Pittsburgh/University of Pittsburgh, Pittsburgh, PA, ⁷University of Pittsburgh, Pittsburgh, PA, ⁸Joseph M. Sanzari Children's Hospital at Hackensack Meridian Health, Hackensack, NJ
Background/Purpose: Despite major advances in the understanding, diagnosis, and treatment of Still’s disease (including Systemic Juvenile Idiopathic Arthritis, sJIA), many patients experience a refractory course.…
Abstract Number: 1824 • ACR Convergence 2025
Tissue-Resident Natural Killer Cells May Drive Monocyte Differentiation And Macrophage Accumulation In The Inflamed Joints Of Pediatric Juvenile Idiopathic Arthritis Patients
Roselyn Fierkens¹, Jun Inamo², Clara Lin³, Nathan Rogers⁴, Kari Hayes¹, Heather Leach³ and Kentaro Yomogida¹, ¹University of Colorado, Aurora, CO, ²University of Colorado School of Medicine, Aurora, CO, ³Children's Hospital Colorado, Aurora, ⁴Children’s Hospital Colorado, Aurora, CO
Background/Purpose: Natural Killer (NK) cells are the most abundant innate lymphoid cells, accounting for 10–40% of total lymphocytes in peripheral blood. They adapt to diverse…
Abstract Number: 1191 • ACR Convergence 2025
Effect of ER Stress Inhibition With 4-Phenylbutyric Acid on Disease Phenotype in a Mouse Model of Myositis
Alfredo Guzman, Elizabeth Bagley, Rita Spathis, Madison King, Kanneboyina Nagaraju and Melissa Morales, Binghamton University, Johnson City, NY
Background/Purpose: Dysregulation of the ER stress and interferon (IFN) pathways play a major role in the pathophysiology of autoimmune myositis. Upregulation of ER stress markers…
Abstract Number: 0918 • ACR Convergence 2025
Retention of variant forms of TNFR1 in the Golgi induces stress responses and monocyte activation in systemic Juvenile Idiopathic Arthritis (sJIA)
Anthony Cruz¹, Krisztian Csomos¹, Boglarka Ujhazi¹, Hiroto Nakano², Marissa Krantz³, Sophia Chou⁴, Emily Rosenbaum¹, Tianmin Fu⁵, Dirk Foell⁶, Rae Yeung⁷, Pamela Weiss⁸, Faiza Naz⁹, Ly-Lan Bergeron¹, Michelle Millwood¹⁰, Carol Lake¹¹, Emely Verweyen⁶, Grant Schulert¹², Stefania Dell'orso⁹, Hao Wu¹³, Zuoming Deng¹⁴, davide Randazzo¹⁵ and Michael Ombrello¹⁶, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, ²NIAMS, NIH, Bethesda, MD, ³University of Rochester, Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Rockville, MD, ⁵Ohio State University College of Medicine, Columbus, OH, ⁶University Hospital Muenster, Muenster, Germany, ⁷The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁸Childrens Hospital of Philadelphia, Philadelphia, PA, ⁹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ¹⁰National Institutes of Health (NIH), Bethesda, MD, ¹¹NIH, GAITHERSBURG, MD, ¹²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ¹³Harvard University, Cambridge, MA, ¹⁴Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹⁵Light Imaging Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, Bethesda, ¹⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is severe and poorly understood inflammatory condition. Tumor necrosis factor receptor 1 (TNFR1) is activated by TNF and is…
Abstract Number: 0024 • ACR Convergence 2025
Biobank-scale genetic mapping identifies the shared genetic landscape of rheumatic and cardiovascular disease
Daniel Panyard¹, Daniel Li², Pik Fang Kho², Rodrigo Guarischi-Sousa³, Jiayan Zhou², Austin Hilliard⁴, Christie Bartels⁵, Philip Tsao² and Themistocles Assimes², ¹Stanford University, Sunnyvale, CA, ²Stanford University, Palo Alto, CA, ³Palo Alto Veterans Institute for Research, Palo Alto, CA, ⁴VA Palo Alto Health Care, Palo Alto, CA, ⁵University of Wisconsin School of Medicine and Public Health, Madison, WI
Background/Purpose: Patients with rheumatic conditions are at increased risk for cardiovascular (CV) problems, striking on average a decade before peers and conferring substantial morbidity and…
Abstract Number: 2136 • ACR Convergence 2025
Confirming The Validity Of The New EULAR/ACR Classification Criteria For Pediatric Chronic Nonbacterial Osteomyelitis
Greta Mastrangelo¹, Edan Itzkovitz², Katherine Sawicka³, Ingrid Goh⁴, Ari Bitnun⁵, Sevan Hopyan⁵, Paul Nathan², Ronald laxer¹ and Brian Feldman¹, ¹The Hospital for Sick Children, Toronto, ON, Canada, ²The Hospital for Sick Children, Toronto, ³The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁴University of Toronto The Hospital for Sick Children, Toronto, ON, Canada, ⁵The Hospital for Sick Children, Toronto, Canada
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is a noninfectious autoinflammatory bone disease which remains a diagnosis of exclusion, as existing diagnostic criteria are not widely accepted.…
Abstract Number: 1823 • ACR Convergence 2025
Genome-Wide DNA Methylation Analysis in Familial Mediterranean Fever
Kader Cetin Gedik¹, Desire Casares Marfil², Busra Baser Taskin³, Elif Kilic Konte⁴, Sezgin Sahin⁴, Mckenna Bowes², Ferhat Guzel⁵, Micol Romano⁶, Ozgur Kasapcopur⁷, Nuray Aktay Ayaz³, Erkan Demirkaya⁶ and Amr Sawalha², ¹UPMC Children's Hospital of Pittsburgh/University of Pittsburgh, Pittsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA, ³Istanbul University Medical School, Istanbul, Turkey, ⁴Istanbul University Cerrahpasa Medical School, Istanbul, Turkey, ⁵Department of Research and Development, Ant Biotechnology, Istanbul, Turkey, ⁶University of Western Ontario, London, ON, Canada, ⁷Istanbul University-Cerrahpasa, Cerrahpasa Medical School, istanbul, Turkey
Background/Purpose: Familial Mediterranean fever (FMF) is an autoinflammatory disease most commonly associated with biallelic mutations in the MEFV gene. Patients carrying the same pathogenic variant…
Abstract Number: 1186 • ACR Convergence 2025
Increased Adoption of IL-1 Pathway Inhibition and the Steroid-sparing Paradigm Shift: Temporal Trends in Recurrent Pericarditis Treatment From the RESONANCE Patient Registry
Paul Cremer¹, Michael Garshick², Sushil Allen Luis³, Ajit Raisinghani⁴, Brittany Weber⁵, Vidhya Parameswaran⁶, Allison Curtis⁶, Sue Gibbons⁶, Allan Klein⁷ and John Paolini⁶, ¹Cleveland Clinic, Shaker Heights, OH, ²NYU Langone Health, Tenafly, NJ, ³Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, ⁴Division of Cardiology, Department of Medicine, Sulpizio Cardiovascular Center, University of California San Diego, San Diego, CA, ⁵Brigham and Women's Hospital, DEDHAM, MA, ⁶Kiniksa Pharmaceuticals, LEXINGTON, MA, ⁷Cleveland Clinic, Cleveland, OH
Background/Purpose: Recurrent pericarditis (RP) is a chronic autoinflammatory disease mediated by IL-1 that requires long-term treatment. While the 2015 European Society of Cardiology Guidelines position…
Abstract Number: 0821 • ACR Convergence 2025
Flipping The Switch – Classical Complement Activation closely linked to IFN-signalling in Stills Disease
Freya Huijsmans¹, Alejandra Bodelón de Frutos¹, Lyanne Sijbers¹, Susanne Benseler², Joost Swart³, Rae Yeung⁴, Sebastiaan Vastert⁵ and Jorg van Loosdregt¹, ¹Pediatric Rheumatology & Immunology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, Utrecht, Netherlands, ²Cumming School of Medicine, Department of Pediatrics, University of Calgary, Calgary, AB, Canada, ³Wilhelmina Children's Hospital / UMC Utrecht, Utrecht, Utrecht, Netherlands, ⁴The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁵University Medical Center Utrecht, Utrecht, Utrecht, Netherlands
Background/Purpose: Stills disease (SD) is an autoinflammatory syndrome characterized by severe innate immune dysregulation. The complement system, an essential component of innate immunity, can drive…
Abstract Number: 0013 • ACR Convergence 2025
Discovery and Characterization of SIM0710, a Novel B and T Lymphocyte Attenuator (BTLA) Agonistic Antibody for Autoimmune/Inflammatory Diseases
Xiaofeng Zhao¹, Xiaoqing Liu¹, Yuxi Yan², Tiezheng Liu³, Yong Fu³, Yulan Hu², Kangmin Zhou², Minyun Zhou⁴, Yingying Hu² and Shunwei Zhu², ¹State Key Laboratory of Neurology and oncolog Drug Development, Simcere Pharmaceutical Group, Nanjing, China (People's Republic), ²State Key Laboratory of Neurology and Oncology Drug Development, Simcere Pharmaceutical Group, Shanghai, China (People's Republic), ³State Key Laboratory of Neurology and Oncology Drug Development, Simcere Pharmaceutical Group, Nanjing, China (People's Republic), ⁴State Key Laboratory of Neurology and Oncology Drug Development, Simcere Pharmaceutical group, Nanjing
Background/Purpose: B and T lymphocyte attenuator (BTLA) is an immune checkpoint molecule that contributes to the regulation of T cell, B cell and dendritic cell…
Abstract Number: 2134 • ACR Convergence 2025
Krebs von den Lungen-6 (KL-6) as a Potential Diagnostic Biomarker of Lung Disease in Pediatric Systemic Juvenile Idiopathic Arthritis: Preliminary Findings from a Multisite US Cohort
Eileen Rife¹, Lexi Auld², Guihua Zhai³, Esraa Eloseily⁴, Grant Schulert⁵ and Yukiko Kimura⁶, ¹University of Alabama at Birmingham, birmingham, AL, ²Cincinnati Children's Hospital Medical Center, Division of Rheumatology, Cincinnati, OH, ³UAB, Birmingham, ⁴UT Southwestern Children's Medical Center, Dallas, TX, ⁵Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁶Hackensack Meridian School of Medicine, New York, NY
Background/Purpose: Children with Systemic Juvenile Idiopathic Arthritis (SJIA) who develop lung disease (LD) are at significantly increased risk of serious complications and even death. Early…
Abstract Number: 1713 • ACR Convergence 2025
Diagnostic Delay in Psoriatic Arthritis and its Impact on Radiological Outcomes: A Systematic Review and Meta-analysis of 23,894 Patients
Mohamed Abdelsalam¹, Menat Alla Ayman Ali Mahdy², Maryam Lasheen³, Hadeer Hafez⁴, Nourhan Abouelella⁵, Abdelhfeez Moshrif⁶ and Mohamed Reda Awad⁷, ¹Misr University For Science and Technology, ⁶ october, Al Jizah, Egypt, ²Misr University For Science and Technology, Nasr City, Al Qahirah, Egypt, ³Misr University For Science and Technology, Helwan, Al Qahirah, Egypt, ⁴⁶th October University, ⁶ october, Al Jizah, Egypt, ⁵Faculty of Medicine, Misr University for Science and Technology, ⁶ october, Al Jizah, Egypt, ⁶Al Azhar University, Asyut, Egypt, assyut, Asyut, Egypt, ⁷Al Azhar University, Cairo, Egypt, Giza, Al Jizah, Egypt
Background/Purpose: Psoriatic arthritis (PsA) remains widely underdiagnosed and misdiagnosed worldwide, leading to delays in appropriate management and increased disease burden. While diagnostic delay has been…
Abstract Number: 1171 • ACR Convergence 2025
VEXAS Syndrome Under the Lens: A prospective analysis of temporal disease patterns, biomarker Dynamics, and therapeutic efficacy
Marta López¹, Paula Garcia Escudero², Berta Magallares³, Meritxell Salles Lizarzaburu⁴, Dolly Viviana Fiallo Suárez⁵, Iñigo Rúa-Figueroa⁶, Isla Morante Bolado⁷, Elena Aurrecoechea⁸, Eugenia Enriquez⁹, Carolina Merino¹⁰, Santos Castañeda¹¹, Irene Monjo Henry¹², César Antonio Egües Dubuc¹³, Elena María Oliver García¹⁴, Alicia Garcia¹⁵, Judit Font-Urgelles¹⁶, Cristina Corrales¹⁷, Lourdes Villalobos¹⁸, Alina-Lucica Boteanu¹⁹, Ignacio Vázquez Gómez²⁰, Diego Dios²¹, Clara Garcia Belando²², Beatriz Frade Sosa²³, Delia Reina²⁴, Marta Ibañez²⁵, Irene Carrion²⁶, Maria Rodriguez²⁷, cristiana Sieiro²⁸, Francisco Javier Toyos²⁹, Alberto Mariano³⁰, Clara Moriano³¹, Rafael B. Melero-González³², Paloma Vela Casasempere³³, Jose Alberto Miranda³⁴, Giuliano Boselli³⁵, Jose Angel Hernandez³⁶, Ernesto Trallero³⁷, Elena Riera Alonso³⁸ and Jaime Calvo³⁹, ¹Complex Hospitalari Universitari Moisés Broggi, Barcelona, Spain, ²H.U.Araba, Vitoria, ³Hospital de Sant Pau, Bareclona, ⁴Rheumatology Department, Althaia Xarxa Assistencial Universitària Manresa Manresa (Spain)., Manresa, Spain, ⁵H.U. Doctor Negrín, Gran Canarias, ⁶Hospital de Gran Canaria Doctor Negrin, Las Palmas GC, Spain, ⁷Rheumatology, Hospital General Sierrallana, Torrelavega, Spain., Santander, ⁸H. Sierrallana, Santander, ⁹Clínica Universidad de Navarra, Madrid, Spain, ¹⁰Rheumatology department. Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda (Madrid), Madrid, Spain, ¹¹Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, ¹²Hospital Universitario La Paz, Madrid, Spain, ¹³Rheumatology Department, Donostia University Hospital., San Sebastian, Spain, ¹⁴H.C. U. Lozano Blesa, Zaragoza, ¹⁵Rheumatologist, La Laguna, Spain, ¹⁶Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹⁷HOSPITAL UNIVERSITARIO MARQUES DE VALDECILLA, Santander, Spain, ¹⁸Ramon y Cajal Hospital, MADRID, Spain, ¹⁹H.U. Ramón y Cajal, Madrid, Spain, ²⁰H.U. Doctor Peset, Valencia, ²¹H.U de A Coruña, A Coruña, Spain, ²²H.C. U. Virgen de la arrizaca, Murcia, ²³Hospital Clinic de Barcelona, Barcelona, Catalonia, Spain, ²⁴Complex Hospitalari Moisès Broggi, Barcelona, Spain, ²⁵Hospital Universitario de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain, ²⁶Hospital del Mar, Barcelona, Spain, ²⁷H. Clínico San Carlos, Madrid, Spain, ²⁸Univrsity of Manchester, Manchester, United Kingdom, ²⁹Virgen Macarena University Hospital,, Sevilla, Spain, ³⁰Virgen del Rocío University Hospital, Sevilla, Spain, ³¹Hospital León, LEON, Castilla y Leon, Spain, ³²COMPLEXO HOSPITALARIO UNIVERSITARIO DE OURENSE, O Carballino, Spain, ³³Hospital General Universitario Alicante, Alicante, Comunidad Valenciana, Spain, ³⁴C. H. U. Lucus Augusti, Lugo, Spain, ³⁵Rheumatology Division, Hospital Universitario Miguel Servet , Zaragoza, Spain, Zaragoza, Aragon, Spain, ³⁶Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran CanariaHospital, Spain, ³⁷H. U. Vall d'Hebron, Barcelona, ³⁸Hospital Universitari Mùtua Terrassa, Terrassa, 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 an adult-onset autoinflammatory disorder caused by somatic mutations in UBA1 gene, characterized by systemic inflammation and haematologic abnormalities. Evidence regarding its…
Abstract Number: 0779 • ACR Convergence 2025
Interim Results of a Randomized Placebo Controlled Study of IL-1 Inhibitor Goflikicept in Patients With Familial Mediterranean Fever
Olga Uhanova¹, serdal Ugurlu², Mikhail Kostik³, Tamara Sarkisyan⁴, Anna Yeghiazaryan⁴, Lidiya Lysenko⁵, Vilen Rameev⁵, Omer Karadag⁶, Valentina Vardanyan⁷, Veli Yazisiz⁸, Tatiana Sotnikova⁹, Vyacheslav Podsvirov¹, Alina Egorova¹⁰, Daria Bukhanova¹⁰, Sergey Grishin¹⁰, Tolga Tuncel¹¹, Mikhail Samsonov¹⁰ and Ahmet Gul¹², ¹Terafarm LLC, Stavropol, Russia, ²Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ³Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia, ⁴Center of Medical Genetics and Primary Health Care LTD, Yerevan, Armenia, ⁵Sechenov’s ¹st State Moscow Medical University, Moscow, Russia, ⁶Division of Rheumatology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey, ⁷Ecosense Diagnostic Center, Yerevan, Armenia, ⁸Akdeniz University, Faculty of Medicine, Antalya, Turkey, ⁹State Budgetary Institution of Healthcare of Moscow Multispeciality Hospital named after S.P. Botkin of the Moscow City and Sechenov University, Moscow, Russia, ¹⁰R-Pharm JSC, Moscow, Russia, ¹¹TRpharm, Istanbul, Turkey, ¹²Istanbul University, Istanbul Faculty of Medicine, Division of Rheumatology, Istanbul, Istanbul, Turkey
Background/Purpose: Goflikicept (GFC; RPH-104) is a novel fusion protein inhibiting interleukin-1 (IL-1). This study aimed to investigate its efficacy and safety in IL-1β-driven monogenic autoinflammatory…

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