Abstracts tagged "Autoinflammatory diseases"

Abstract Number: LB21 • ACR Convergence 2025
IDH1/2 Somatic Hotspot Mutations as Independent Drivers of Autoinflammation
Flore Castellan¹, Griffen Mustion², Mei-Kay Wong¹, Kimberly Johansson², Scott Goldberg¹, Yazan Madanat³, Namrata Chandhok⁴, Abhay Singh⁵, David Sallman⁶, Jane Churpek⁷, Curtis Lachowiez⁸, Jennifer Yannucci⁹, Luke Fletcher¹⁰, Matthew Schwede¹¹, Amber Afzal², Yael Kusne¹², Alejandro Marinos¹³, Alexander Coltoff¹⁴, Rickey Myhand¹⁵, Kiran Vij², Rosalyn Marar¹⁶, Hannah Mitchell², Maria Stoentcheva², Giulia Petrone², Kyra Ddungu², Hannah Hartman², Ryan Monahan², Karen Vandervort², Jie Liu², John Cole², Tibor Kovacsovics¹⁷, Hetty Carraway¹⁸, Tian Zhang¹⁹, Stephen Chung³, Geoffrey Uy², Eytan Stein²⁰, Devendra Hiwase²¹, Matthew Walter², Mrinal Patnaik¹⁶, Kelly Bolton²² and David Beck¹, ¹New York University School of Medicine, New York, New York, ²Washington University School of Medicine, Saint Louis, Missouri, ³UT Southwestern Medical Center, Dallas, Texas, ⁴University Miami Miller School of Medicine, Miami, Florida, ⁵Cleveland Clinic, Cleveland, Ohio, ⁶Moffitt Cancer Center, Tampa, Florida, ⁷University of Wisconsin School of Medicine, Madison, Wisconsin, ⁸Oregon Health & Science University, Portland, Oregon, ⁹Low Country Cancer Care, Savannah, Georgia, ¹⁰Willamette Valley Cancer Institute and Research Center, EUgene, Oregon, ¹¹Swedish Health Services, Seattle, Washington, ¹²Mayo Clinic, Phoenix, Arizona, ¹³UTSouthwestern Medical Center, Dallas, Texas, ¹⁴Medical University of South Carolina, Charleston, South Carolina, ¹⁵CovenantOntology & Hematology, Frankfort, Kentucky, ¹⁶Mayo Clinic, Rochester, Minnesota, ¹⁷City of Hope, Goodyear, Arizona, ¹⁸Case Western Reserve University, Cleveland, Ohio, ¹⁹Stanford Medicine, Stanford, California, ²⁰Memorial Sloan Kettering Cancer Center, New York, New York, ²¹Adelaide Medical School, Adelaide, South Australia, Australia, ²²Washington University School of Medicine, Saint Louis, Minnesota
Background/Purpose: Recently, somatic mutations in hematopoietic stem and progenitor cells (HSPCs) have been proposed as a novel mechanism driving systemic inflammation. UBA1 somatic variants in…
Abstract Number: 2157 • ACR Convergence 2025
Optimizing the Diagnosis and Treatment of Kawasaki Disease-Associated Macrophage Activation Syndrome: A Clinical Cohort and Literature Analysis
Xi Yang¹, Yuanhao Zhao², Zhihan Tang², Haixia Liu² and Xuemei Tang², ¹Department of Rheumatology & Immunology, Children’s Hospital of Chongqing Medical University, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, National Clinical Research Center for Child Health and Disorders (Chongqing), Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing, China., Chongqing, China (People's Republic), ²Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China, Chongqing, China (People's Republic)
Background/Purpose: Through a single-center retrospective cohort study and systematic literature review, we aimed to evaluate the applicability of current diagnostic criteria (HLH-2004/2009 and 2016 sJIA-MAS)…
Abstract Number: 2021 • ACR Convergence 2025
Can Colchicine Be a Therapeutic Option for Patients with Ankylosing Spondylitis?
Muhammed Bahaddin Ates¹ and serdal Ugurlu², ¹Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ²Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey
Background/Purpose: Ankylosing Spondylitis (AS) is a subtype of spondyloarthritis (SpA), a group of inflammatory diseases. AS is influenced by a complex interplay of factors arising…
Abstract Number: 1362 • ACR Convergence 2025
Multimodal Spatial and Single-Cell Profiling of Synovial Tissue Reveals Macrophage Programs Associated with Biologic TherapyTreatment Response in Rheumatoid Arthritis
Mohammad Daud Khan¹, Matthew Dapas², Salina T Dominguez¹, Tyler Therron³, Kathleen Aren⁴, Mary Carns⁵, Hadijat Makinde⁵, Arthur M Mandelin¹, Eric M Ruderman¹, John F Seagrist⁵, Ruth Misha¹, Carla Marie Cuda⁵, Harris R Perlman⁵ and Deborah Rachelle Winter⁶, ¹Northwestern University, Chicago, ²Northwestern University Feinberg School of Medicine, Chicago, IL, ³Northwestern Feinberg School of Medicine, Chicago, IL, ⁴Northwestern University Division of Rheumatology, Chicago, IL, ⁵Northwestern University, Chicago, IL, ⁶Northwestern University, Skokie, IL
Background/Purpose: Rheumatoid arthritis (RA) is a chronic autoimmune disease driven by persistent synovial inflammation and progressive joint damage. Selecting an effective biologic therapy remains a…
Abstract Number: 1132 • ACR Convergence 2025
DDX3X Regulates Gout Inflammation via NLRP3 Inflammasome Activation and Macrophage Pyroptosis Crosstalk
Linrui Zhong, Tianyi Lei, Quanbo Zhang and Yufeng Qing, The Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, China (People's Republic)
Background/Purpose: Pyroptosis is closely linked to acute flare-ups and spontaneous remission of gout. However, the specific mechanisms by which pyroptosis regulates gout inflammation remain unclear.…
Abstract Number: 0242 • ACR Convergence 2025
Contemporary Recurrent Pericarditis Management – Real-world Evidence of Limited Cardiac Magnetic Resonance Imaging Prior to Initiating Rilonacept
Brittany Weber¹, Paul Cremer², Michael Garshick³, Sushil Allen Luis⁴, Ajit Raisinghani⁵, Vidhya Parameswaran⁶, Allison Curtis⁶, Allan Klein⁷ and John Paolini⁶, ¹Brigham and Women's Hospital, DEDHAM, MA, ²Cleveland Clinic, Shaker Heights, OH, ³NYU Langone Health, Tenafly, NJ, ⁴Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, ⁵Division of Cardiology, Department of Medicine, Sulpizio Cardiovascular Center, University of California San Diego, San Diego, CA, 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, and selection of therapy is guided by multiple factors.…
Abstract Number: 2156 • ACR Convergence 2025
Bridging the Gap: Juvenile Spondyloarthritis (JSpA) vs. Chronic Non-Bacterial Osteomyelitis (CNO)
Sophia Elfrink¹, Timothy Brandon¹, Jahan Jazayeri¹ and Pamela Weiss², ¹Children's Hospital of Philadelphia, Philadelphia, PA, ²Childrens Hospital of Philadelphia, Philadelphia, PA
Background/Purpose: The relationship between juvenile spondyloarthritis (JSpA) and chronic nonbacterial osteomyelitis (CNO) remains poorly defined. This study aimed to assess the proportion of pediatric patients…
Abstract Number: 1974 • ACR Convergence 2025
Serial ferritin as a diagnostic surrogate marker in Hemophagocytic Lymphohistiocytosis (HLH), a retrospective single-center study
Chen Chao¹, Anna Lichtiger², Xianhong Xie³, Melissa Fazzari⁴ and Ayesha Bibi⁵, ¹Rheumatology Division, Department of Medicine, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, NY, NY, ²Internal Medicine, Albert Einstein College of Medicine/Montefiore Medical Center, The Bronx, NY, ³Department of Epidemiology & Population Health, Albert Einstein College of Medicine, Bronx, NY, ⁴Department of Epidemiology & Population Health, Albert Einstein College of Medicine,, Bronx, NY, ⁵Rheumatology Division, Department of Medicine, Albert Einstein College of Medicine/Montefiore Medical Center, Woodbridge Township, NJ
Background/Purpose: Hemophagocytic lymphohistiocytosis (HLH) is an immune-mediated disorder characterized by cytokine dysregulation, resulting in multi-organ involvement and high mortality. (1-2) There is a time lag…
Abstract Number: 1339 • ACR Convergence 2025
Inflammatory Rheumatic Diseases in IDH-mutated Myeloid Neoplasms: Clinical Spectrum and Response to IDH Inhibitors
Romain Stammler¹, Peter Chen², Orianne Debeaupuis², Lin Pierre Zhao¹, Mirabelle Ruyer Thompson¹, Eve Zakine¹, Julien Rossignol¹, Lauriane Goldwirt¹, Thibault Comont³, Mael Heiblig⁴, Lionel Ades¹, Marie Sebert¹, Jean-sébastien Allain⁵, Julien Campagne⁶, Marie Anne Couturier⁷, Marina Cumin⁸, Marie Caroline Dalmas⁹, Guillaume Denis¹⁰, Cecile Devloo¹¹, Adrien De Voeght¹², Louis Drevon¹, Pierre Duffau¹³, Sophie georgin-Lavialle¹⁴, Delphine Gobert¹, Noemie Abisror¹⁵, Olivier Kosmider¹⁶, Fréderic Rieux-Laucat², Estibaliz LAZARO¹⁷, Jean Guillaume Lopez¹⁸, Alexandre Maria¹⁹, Wladimir Mauhin²⁰, Julie Merindol²¹, Claire Merlot²², Tristan Mirault¹, Laurent Pascal²³, François Perrin²⁴, Emmanuel Raffoux¹, Ramy Rahme²⁵, Damien Roos-Weil¹, Benjamin Terrier²⁶, Benjamin Torreau²⁷, Olivier Fain¹, Pierre Fenaux¹, Pierre Hirsch¹, Vincent Jachiet¹, Jerome Hadjadj¹ and Arsène Mekinian²⁸, ¹Assistance Publique des Hôpitaux de Paris, Paris, France, ²Imagine Institute, Paris, France, ³Centre Hospitalier Universitaire Toulouse Institut Universitaire du Cancer Toulouse Oncopole, Toulouse, France, ⁴Lyon-Sud Hospital, Hospices Civils de Lyon, Paris and Université Claude Bernard, Lyon, France, ⁵Scorff-Lorient Hospital, Lorient, France, ⁶Hospital Robert Schuman, Metz, France, ⁷Centre Hospitalier Régional et Universitaire de Brest, Brest, France, ⁸Centre hospitalier de Libourne, Libourne, France, ⁹Strasbourg University Hospital Center, Strasbourg, France, ¹⁰Centre Hospitalier Rochefort, Rochefort, France, ¹¹Centre hospitalier de Dieppe, Dieppe, France, ¹²CHU of Liège, Liège, Belgium, ¹³Groupe Hospitalier Saint-André, Bordeaux, France, ¹⁴Sorbonne university, Tenon hospital, DMU³ID, CEREMAIA, ERN RITA, Paris, France, ¹⁵Internal Medicine, CHU Saint-Antoine,, Paris, France, ¹⁶AP-HP, Hopital Cochin, Institut Cochin, CNRS UMR⁸¹⁰⁴, INSERM U¹⁰¹⁶ Université Paris Cité Paris France., PARIS, France, ¹⁷Bordeaux University Hospital, Pessac, France, ¹⁸Dupuytren University Hospital, Limoges, France, ¹⁹Saint-Eloi Hospital, Montpellier, France, ²⁰Croix Saint Simon Hospital, Paris, France, ²¹University Hospital of Nice, Nice, France, ²²Centre hospitaliser d’Orléans, Orléans, France, ²³Hôpital Saint-Vincent de Paul, Lille, France, ²⁴Centre Hospitalier de Saint-Nazaire, Saint Nazaire, France, ²⁵Assistance Publique des Hôpitaux de Paris, Bobigny, France, ²⁶Cochin Hospital, Paris, France, ²⁷Internal Medicine and Immunology, CHU Tours, Tours, France, ²⁸Department of Internal Medicine, Inflammation-Immunopathology-Biotherapy Department (DMU i³), Saint-Antoine University Hospital, ⁷⁵⁰¹² Paris, France, Paris, France
Background/Purpose: Clonal hematopoiesis has emerged as a key contributor to systemic inflammation, bridging hematologic and immune-mediated inflammatory disorders (IMIDs). Isocitrate dehydrogenase 1 and 2 (IDH1/2)…
Abstract Number: 1114 • ACR Convergence 2025
Multi-omics Integration Analysis of the Cross-scale Mechanism of MTX-induced T2DM Risk and the Precise Intervention Strategy of Leonurine
Mei-Feng Shi¹, Fang-Shu Zou¹, Xiao-Na Ma¹, Wei Feng¹, Yi-Fang Zhang², Chang-Song Lin¹, Min-Ying Liu² and Qiang Xu¹, ¹Guangzhou University of Traditional Chinese Medicine, Guangzhou, China (People's Republic), ²The First Clinical Medical College of Guangzhou University of Chinese Medicine, Guangzhou, Guangdong, China (People's Republic)
Background/Purpose: Methotrexate (MTX) is a first-line treatment for autoimmune diseases, including rheumatoid arthritis (RA). Its potential risk of inducing type 2 diabetes mellitus (T2DM) remains…
Abstract Number: 0237 • ACR Convergence 2025
Monogenic autoinflammatory diseases and undefined autoinflammatory syndrome in Western Mediterranean adults: clinical, genetic, and therapeutic insights
Alba Maria Torrat Noves¹, José Ivorra Cortes², Alejandro Jose Mateo Vendrell², ELENA GRAU GARCIA³, Pablo Muñoz Martinez², Laura Mas Sanchez⁴, Daniel Ramos Castro⁵, Iago Alcántara Álvarez⁶, Belen Villanueva Manes⁷, Andres perez Hurtado², Miguel Simeo Vinaixa², inmaculada Calvo Penades⁸, Berta López Montesinos⁸, Lucia Lacruz-perez⁸ and José Andrés Román Ivorra⁹, ¹Hospital Universitari i Politècnic La Fe de Valencia, Valencia, Spain, ²Rheumatology Department. HUP La Fe, Valencia, Spain, ³HUP La Fe, Valencia, Comunidad Valenciana, Spain, ⁴Hospital Universitari i Politecnic La Fe, València, Spain, ⁵Hospital Universitari i Politecnic La Fe, Valencia, Spain, ⁶Hospital Universitari i Politénic La Fe, València, Spain, ⁷Hospital La Fe, València, Spain, ⁸Pediatric Rheumatology Department. HUP La Fe, Valencia, Spain, ⁹Hospital Universitari i Politècnic La Fe, Valencia, Spain
Background/Purpose: Monogenic autoinflammatory diseases are rare innate immunity disorders characterized by recurrent episodes of fever and systemic inflammation. They are most often described in childhood,…
Abstract Number: 2154 • ACR Convergence 2025
Whole-Body MRI Findings in a Cohort of Children with Chronic Nonbacterial Osteomyelitis
Mara Rodriguez¹, Maurice Davenport Munoz², Kiery Braithwaite³, Lori Ponder⁴, Kelly Rouster-Stevens⁵, Solveig Argeseanu Cunningham⁶ and Sampath Prahalad⁷, ¹Emory University School of Medicine / Children's Healthcare of Atlanta, Atlanta, GA, ²Emory University School of Medicine, Pediatrics, Atlanta, ³Children's Healthcare of Atlanta, Atlanta, GA, ⁴Emory University, Atlanta, GA, ⁵Emory University/Children's Healthcare of Atlanta, Peachtree Corners, GA, ⁶Emory Rollins School of Public Health Department of Global Health, Atlanta, GA, ⁷Emory + Children's Pediatric Institute, Atlanta, GA
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disorder characterized by multifocal, sterile bone inflammation in childhood. Whole-body magnetic resonance imaging (WB-MRI) allows for…
Abstract Number: 1889 • ACR Convergence 2025
Navigating Diagnostic Challenges: Insights into the Patient Journey and Delays in Diagnosing Dermatomyositis from a Real-world Survey in the United States and Europe
Esther Yi¹, Jason Xenakis¹, Chris Blazos², Jade Garratt-Wheeldon², James Piercy², Peter Anderson² and Rohit Aggarwal³, ¹Pfizer Inc., New York, United States of America, New York, ²Adelphi Real World, Bollington, United Kingdom, Bollington, United Kingdom, ³University of Pittsburgh, Rheumatology and Clinical Immunology, Pittsburgh, United States of America, Pittsburgh, PA
Background/Purpose: Idiopathic inflammatory myopathies (IIMs) are a heterogenous group of rare autoimmune inflammatory rheumatic diseases, including dermatomyositis (DM).Methods: Data were drawn from the Adelphi Real…
Abstract Number: 1305 • ACR Convergence 2025
Clinical outcomes of low-to-moderate–dose glucocorticoids in multisystem inflammatory syndrome in children (MIS-C) – a multicenter study
Nina Shirman¹, Liora Harel², Gil Amarilyo³, Kfir Kaidar⁴, Yonatan Butbul Aviel⁵, Merav Heshin Bekenstein⁶, Mohamad Hamad Saied⁷, Ofra Goldzweig⁸, Adi Miler⁹ and Yoel Levinsky¹⁰, ¹Schneider children's medical center of Israe, Tel Aviv, Israel, ²Schneider Children's Medical center, Nettnja, Israel, ³Schneider Children's Medical Center of Israel, Kibbutz Maggal, Israel, ⁴Pediatric rheumatology, Schneider children's medical center of Israel, Petah Tikva, Israel, ⁵Pediatric rheumatology, Technion Faculty of Medicine, Haifa, Israel, ⁶Tel Aviv Medical Center Israel, Binyamina, Tel Aviv, Israel, ⁷Carmel Medical Centre, Technion Faculty of Medicine, Haifa, Israel, ⁸Pediatric rheumatology unit, Kaplan medical canter, Rehovot, Israel, ⁹Pediatric rheumatology unit, Technion Faculty of Medicine, Haifa, Israel, ¹⁰Schneider Children's Medical Cenetr of Israel, Tel Aviv University, JERUSALEM, Israel
Background/Purpose: Multisystem Inflammatory Syndrome in Children (MIS-C) is an autoinflammatory disease following SARS-CoV-2 exposure. The optimal treatment strategy remains under investigation, though intravenous immunoglobulin (IVIG)…
Abstract Number: 1056 • ACR Convergence 2025
High diagnostic rate of genetic testing in adult patients with autoinflammation: A Single Center Experience
Atif Towheed¹, Joshua Owens², Ann Parody¹ and Daniella Schwartz³, ¹University of Pittsburgh Medical Centre, Pittsburgh, ²UPMC Children’s Hospital of Pittsburgh, Pittsburgh, ³University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Inborn errors of immunity (IEI), including autoinflammatory diseases and primary immune regulation disease (PIRD), are unfamiliar to many adult rheumatologists, leading to potential ascertainment…

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