Abstracts tagged "Inflammasome"

Abstract Number: 2155 • ACR Convergence 2025
A Novel TNFAIP3 Mutation Associated with Large Vessel Vasculitis: Expanding the Phenotypic Spectrum of A20 Haploinsufficiency
Sirada Panupattanapong¹, roshini Abraham², Urekha Karri³, Harry Lesmana¹ and Daniella Schwartz⁴, ¹Cleveland Clinic Foundation, Cleveland, OH, ²Nationwide Children's Hospital, Columbus, OH, ³School of public health, Pittsburgh, PA, ⁴University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Loss-of-function pathogenic variants in TNFAIP3 lead to haploinsufficiency of A20 (HA20), a complex immune dysregulation disorder that can mimic Behcet’s disease, IBD, periodic fever…
Abstract Number: 2011 • ACR Convergence 2025
A Phase 1 placebo controlled, single (SAD) and multiple dose escalation (MAD) safety and pharmacokinetic (PK) study of a novel colchicine analogue ABP-745 in healthy volunteers (HV)
ullrich schwertschlag¹, Roy Wu², yan yang³ and William Shi⁴, ¹Atom Therapeutics, PALO ALTO, CA, ²Atom Bioscience, San Francisco, CA, ³Atom Therapeutics, Suzhou, China (People's Republic), ⁴Atom Therapeutics, Newark, CA
Background/Purpose: ABP-745 is a novel colchicine analogue in development as an anti-inflammatory agent for the treatment of acute gout and other chronic inflammatory conditions. In…
Abstract Number: 1812 • ACR Convergence 2025
Inflammasome and UPR activation in monocytes of HLA B27 positive children with Enthesitis related arthritis category of JIA
Shivika Guleria¹ and Amita Aggarwal², ¹SGPGIMS, Lucknow, Lucknow, Uttar Pradesh, India, ²Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, Lucknow, Uttar Pradesh, India
Background/Purpose: Enthesitis related arthritis (ERA) is a chronic immune-inflammatory disease with unknown etiology. HLA-B27 is the strongest risk factor predisposing to ERA like Spondyloarthritis (SpA).…
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: 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: 1008 • ACR Convergence 2025
Nationwide Historical Cohort Study on the Primary Prophylactic Effects of Colchicine in Cardiovascular Events
Hasan Satis¹, Umut Kalyoncu², Gizem Ayan³, Ali Aykut Fidanci⁴, Mustafa Mahir Ulgu⁴, Naim Ata⁴, Suayip Birinci⁴, Mehmet Koçak⁵ and Ahmet Gul⁶, ¹University of Health Sciences, Abdurrahman Yurtaslan Oncology Hospital, Rheumatology, Ankara, Turkey, ²Division of Rheumatology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey, Ankara, Turkey, ³Ankara Research and Training Hospital, Ankara, Turkey, ⁴Ministry of Health, Ankara, Turkey, ⁵Medipol University, Istanbul, Turkey, ⁶Istanbul University, Istanbul, Turkey
Background/Purpose: While two trials with colchicine have demonstrated its efficacy in reducing the risk of cardiovascular events, a more recent study showed no significant impact…
Abstract Number: 0867 • ACR Convergence 2025
NLRP3 Inflammasome Impairs Fracture Repair in Rheumatoid Arthritis through RhoA/Rac1-IL1β Axis-Mediated Suppression of Osteoblast Differentiation
Wen Sun and Hua Wang, Nanjing Medical University, Nanjing, China (People's Republic)
Background/Purpose: Rheumatoid arthritis (RA) is often characterized by bone loss and fragility fractures and is a frequent comorbidity. The NLRP3 inflammasome, a key mediator of…
Abstract Number: 0301 • ACR Convergence 2025
Novel HMGCS1 Deficiency Expands Proinflammatory Monocytes and Cytotoxic Populations with Increased Cytokine Release
Sabrina Helmold Hait¹, Mary Maclean², Cindy Phung³, Gustaf wigerblad⁴, Iago Pinal Fernandez⁴, Carl Esperanzate⁵, hongying Wang⁵, Andrew Mammen⁶, willian Gahl⁵, Daniel L. Kastner⁷, Stefania Dell'orso⁴, Danica Novacic⁵, massimo Gadina⁴ and Ivona Aksentijevich⁸, ¹NIAMS/NIH, Bethesda, MD, ²NIH-NIAMS, Rockville, MD, ³National Institute of Arthritis, Musculoskeletal, and Skin Diseases (NIAMS), Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁵National Human Genome research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, ⁶NIH, Bethesda, MD, ⁷National Human Genome research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, ⁸¹⁰⁰, Bethesda, MD
Background/Purpose: The mevalonate (MVK) pathway synthesizes isoprenoids that mediate post-translational protein modifications via prenylation. Deficient protein prenylation due to decreased mevalonate kinase (MK) activity leads…
Abstract Number: 0134 • ACR Convergence 2025
Neutrophil Gasdermin D Pores as Potential Therapeutic Targets in APS-Associated Thromboinflammation
NaveenKumar Somanathapura¹, Thalia Newman¹, Chao Liu², Srilakshmi Yalavarthi³, Cyrus Sarosh⁴, Jacqueline Madison¹, Ajay Tambralli¹, Yu (Ray) Zuo¹ and Jason S. Knight¹, ¹University of Michigan, Ann arbor, MI, ²University of Michigan, Superior Charter Twp, MI, ³Division of Rheumatology, Department of Internal Medicine, University of Michigan, Ann Arbor, ⁴University of Michigan, Temperance, MI
Background/Purpose: Emerging evidence implicates neutrophil activation and neutrophil extracellular trap (NET) formation (i.e., NETosis) in amplifying APS-associated thromboinflammation. Gasdermin D (GSDMD), a substrate of inflammatory…
Abstract Number: 0934 • ACR Convergence 2024
Screening NLRP3 Drug Candidates in Clinical Development:Lessons from Existing and Emerging Technologies
Isak Tengesdal¹, Carlo Marchetti¹, Tim L.Th. Jansen², Marc Y. Donath³, Naomi Schlesinger⁴ and Charles Dinarello¹, ¹University of Colorado, Denver, CO, ²1VieCuri Medisch Centrum, Venlo, Netherlands, ³University of Basel, Basel, Switzerland, ⁴University of Utah, Salt Lake City, UT
Background/Purpose: NLRP3 is emerging as an attractive upstream target of the pathway to down-modulate rather than to completely neutralize IL-1ß levels in both acute and…
Abstract Number: 1108 • ACR Convergence 2024
The Needed Daily Dose of Colchicine in Patients with Familial Mediterranean Fever May Be Higher in Women, a Study on Behalf of the JIR Cohort
Ilenia Di Cola¹, Alessandra Bartoli², Lea Savey³, Fatima Bensalek⁴, Marion Delplanque⁴, Rim bourguiba⁴, Zohra Aknouche⁴, Isabelle Kone Paut⁵, Linda Rossi Semerano⁵, Isabelle Melki⁶, Brigitte Bader-Meunier⁷, Bénédicte Neven⁶, PIERRE QUARTIER⁸, Guilaine Boursier⁹, Irina Giurgea¹⁰, Laurence Cuisset¹¹, Gilles Grateau⁴, Veronique Hentgen¹² and Sophie Georgin-lavialle¹³, ¹University of L'Aquila, L'Aquila, Italy, ²Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, italy, Italy, ³Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, france, France, ⁴Internal Medicine Department, Tenon Hospital, AP-HP, Paris, France, Paris, France, ⁵Kremlin Bicêtre hospital, Le Kremlin Bicêtre, France, ⁶Necker Hospital, Paris, France, ⁷Necker Hospital, Assistance Publique Hopitaux de Paris, Paris, France, ⁸Université Paris-Cite, IMAGINE Institute, Necker Children’s Hospital, Paris Cedex 15, France, ⁹University of Montpellier, Montpellier, ¹⁰Trousseau hospital, Paris, France, ¹¹Cochin hospital, Paris, France, ¹²Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CEREMAIA, CHU de Montpellier, Univ Montpellier, Montpellier, France, Le Chesnay, France, ¹³Sorbonne Université, Department of internal medicine, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
Background/Purpose: Familial Mediterranean Fever (FMF) is the most common autoinflammatory monogenic disease worldwide, and it is associated with mutations in MEFV gene. Colchicine is the…
Abstract Number: 2046 • ACR Convergence 2024
Duration of Disease and Long-term Outcomes in Patients with Difficult-to-treat Recurrent Pericarditis: A Chronic Condition Treated with NSAIDs, Colchicine, Corticosteroids, and Anti-IL-1 Agents
Antonio Brucato¹, Elisa Ceriani², Francesco Agozzino³, Silvia Berra⁴, Antonio Gidaro², Silvia Macchi⁵, Letizia Vena⁵, Paolo Bindi⁵, Alberto Pavarani⁶, Francesco Moda⁷, Ludovico Luca Sicignano⁸, Celeste Murace⁸, Elena Verrecchia⁸, Caterina Chiara Decarlini⁹, Silvia Maestroni¹⁰, Gabriella Marinaro⁴, Lucia Trotta³, Massimo Pancrazi³, Lisa Serati³, Enrica Negro³, Claudia Gabiati³, Elisa Calabrò³, Angela Mauro¹¹, Luisa Carrozzo³, Emanuele Bizzi³ and Massimo Imazio¹², ¹Department of Biomedical and Clinical Sciences, University of Milano, Department of Internal Medicine, Ospedale Fatebeneratelli, Milano, Milano, Lombardia, Italy, ²Department of Internal Medicine, Ospedale Luigi Sacco, Milano, Milan, Italy, ³Department of Internal Medicine, Ospedale Fatebeneratelli, Milano, Milan, Italy, ⁴Department of Internal Medicine, Ospedale Fatebeneratelli, Milano, Milano, Italy, ⁵University of Milano, Milan, Italy, ⁶University of Milano, Milan, ⁷Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy, ⁸Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Rome, Italy, ⁹Cardiology Division, Cardiovascular Department, San L. Mandic Hospital, Merate, Lecco, Italy, ¹⁰Internal Medicine Department, Papa Giovanni XXIII Hospital, Bergamo, Bergamo, Italy, ¹¹Pediatric Rheumatology Unit, Department of Childhood and Developmental Medicine, Fatebenefratelli-Sacco Hospital, Milan, Italy, ¹²University of Udine, and Cardiothoracic Department, University Hospital Santa Maria della Misericordia, Udine, Milan, Italy
Background/Purpose: Recurrent pericarditis (RP) challenges pts and clinicians in terms of long-term management. Objective of this study was to evaluate the remission rate (drug-free for…
Abstract Number: 2201 • ACR Convergence 2024
Immunodeficiency-Related Monogenic Autoinflammatory Diseases; Expanding Spectrum of Immunodysregulation Disorders
Alhanouf Alsaleem¹, Lujain Akbar² and Sulaiman Al-Mayouf³, ¹KFSH&RC, Riyadh, Saudi Arabia, ²RIYADH, RIYADH, Saudi Arabia, ³KFSHRRC, Riyadh, Saudi Arabia
Background/Purpose: Human inborn errors of immunity are caused by monogenic germline mutations characterized by Immunodeficiency like features with increase susceptibility to infection as well as…
Abstract Number: 2518 • ACR Convergence 2024
Behçet’s Disease Immune Landscape Exhibits a Universal NF-kB-mediated Hyperactivation Pattern with Cell-specific TNFAIP3 Responses and a Superimposed IFN-regulated Endotype
Yesim Ozguler¹, Olivier Manches², Didar Ucar³, Ziyan Lin², Alireza Khodadadi-Jamayran², Aristotelis Tsirigos², Gulen Hatemi¹ and Johannes Nowatzky⁴, ¹Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ²NYU Grossman School of Medicine, New York, NY, ³Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Department of Ophthalmology, Istanbul, Turkey, ⁴New York University Grossman School of Medicine, New York, NY
Background/Purpose: The immune landscape of Behçet’s disease (BD) remains ill-defined, lacking a unifying picture, precise disease phenotype-endotype correlations, and an understanding of immunity at target…
Abstract Number: 0072 • ACR Convergence 2024
The Association Between Activation of Inflammasome and HLA-B27 in Dendritic Cells of Patients with Axial Spondyloarthritis
Jina Yeo¹, Min-Gang Kim², Hye Eun Lee³, Yeonsoo Yang², Mi Ryoung Seo¹, Hyo-Jin Choi¹, Eun Young Lee⁴, Dae Ho Lee³ and Han Joo Baek⁵, ¹Division of Rheumatology, Department of Internal Medicine, Gil Medical Center, Gachon University College of Medicine, Incheon, Republic of Korea, ²Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea, ³Division of Endocrinology, Department of Internal Medicine, Gil Medical Center, Gachon University College of Medicine, Incheon, Republic of Korea, ⁴3Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea, ⁵Division of Rheumatology, Department of Internal Medicine, Gil Medical Center, Gachon University College of Medicine, Inchon, South Africa
Background/Purpose: Axial spondyloarthritis (axSpA) exhibits a predominant involvement of the innate immune system, marked by abnormal functions of innate immune cell such as dendritic cells…

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