Abstracts tagged "Cell Death"

Abstract Number: 0097 • ACR Convergence 2024
The Human Lupus TREX1 D18N Mutation Engineered in C. Elegans Leads to Cell Death. What Can We Learn About Lupus Using C. Elegans?
Htay Htay Kyi¹, Patricia Barreto², Yeshaswi Pulijala³, Thejasvi Venkatachalam³ and Martha Soto², ¹Rutgers New Jersey Medical School, Jersey City, NJ, ²Robert Wood Johnson Medical School, Piscataway, NJ, ³RWJ-PATHOLOGY-RESEARCH-PISC, Piscataway
Background/Purpose: TREX1 gene encodes the three prime repair exonuclease 1 enzyme that degrades DNA. TREX1 plays a key role in genomic DNA degradation, cell death…
Abstract Number: 0833 • ACR Convergence 2024
Novel Loss of Function Variants in the Death Domain of Tumor Necrosis Factor Superfamily Receptor 1A (TNFRSF1A) in Children with Systemic Juvenile Idiopathic Arthritis (sJIA)
Anthony Cruz¹, Hiroto Nakano², Sophia Chou³, Marissa Krantz⁴, Tianmin Fu⁵, Davide Randazzo⁶, Zuoming deng⁷, Hao Wu⁸ and Michael Ombrello⁹, and INCHARGE Consortium, ¹National Institutes of Health, Bethesda, MD, ²NIAMS, NIH, Bethesda, MD, ³National Institutes of Health, Rockville, MD, ⁴University of Rochester, Rochester, NY, ⁵Ohio State University College of Medicine, Columbus, OH, ⁶NIAMS/NIH, Bethesda, MD, ⁷National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁸Harvard Medical School, Boston, MA, ⁹National 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 an inflammatory condition characterized by recurring fevers, arthritis and hyperinflammation, but its exact etiology is unknown. Tumor necrosis…
Abstract Number: 2601 • ACR Convergence 2024
Platelets Specifically Interact with Remigrating Neutrophils and Promote Immunogenic Cellular Death in Systemic Lupus
Marie nansion¹, Eloi Schmauch², Pierre Vacher³, Jean Sibilia⁴, Nathan Broussaudier¹, Adeline Bruchon¹, Pierre Grenot¹, Anne-Sophie Korganow⁵, Thierry Martin⁵, Sophie Caillard⁶, Anna Duval⁶, Jacques-Eric Gottenberg⁷, Raphaël Carapito¹, Séiamak Bahram¹, Patrick Blanco⁸ and Marc Scherlinger⁹, ¹UMR_INSERM 1109, Strasbourg, France, ²Broad Institute of MIT and Harvard, Cambridge, MA, USA., Boston, MA, ³Inserm U1045, Bordeaux, France, ⁴Strasbourg University Hospital, National reference center for autoimmune disease, Rheumatology, Strasbourg, France, ⁵Strasbourg University Hospital, National reference center for autoimmune disease, Clinical Immunology, Strasbourg, France, ⁶Nephrology department, HUS, Strasbourg, France, ⁷Rheumatology Department, Strasbourg University Hospital,, Strasbourg, France, ⁸UMR_CNRS 5164 Immunoconcept, BORDEAUX CEDEX, France, ⁹Strasbourg University Hospital; INSERM 1109, Strasbourg, France
Background/Purpose: In SLE, platelet activation (express P-selectin+) follows the disease activity, which plays a role in thrombosis as well as in inflammation (1). Neutrophils express high levels of PSGL-1,…
Abstract Number: 0044 • ACR Convergence 2023
Aberrant Mevalonate Metabolite Farnesyl Pyrophosphate-Induced Neutrophil Hyperactivation in Behçet’s Disease Pathogenesis
Menghao Zhang¹, Na Kang², Xin Yu¹, Wanli Liu² and Wenjie Zheng¹, ¹Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Beijing, China, ²Beijing Key Lab for Immunological Research on Chronic Diseases, School of Life Sciences, Institute for Immunology, Tsinghua University, Beijing, China
Background/Purpose: Behçet’s disease (BD) is a chronic vasculitis characterized by polymorphonuclear neutrophils (PMNs) hyperactivation with unknown etiology. The over-productions of neutrophil extracellular traps (NETs) and…
Abstract Number: 0050 • ACR Convergence 2023
Anti-Citrullinated Histone Antibody CIT-013, a Dual Action Therapeutic for Neutrophil Extracellular Trap Associated Autoimmune Disease
Maarten van der Linden¹, Sangeeta Kumari¹, Daphne Montizaan¹, Stephanie van Dalen¹, Annemarie Kip¹, Martyn FOSTER², Inge Reinieren¹, Elsa Neubert³, Luise Erpenbeck⁴, Tirza Bruurmijn¹, Peter van Zandvoort¹, Paul Vink¹, Eric Meldrum⁵, Helmuth van Es¹ and Renato Chirivi¹, ¹Citryll BV, Oss, Netherlands, ²Experimental Pathology Consultancy, Benfleet, United Kingdom, ³Leiden Academic Centre for Drug Research, Leiden, Netherlands, ⁴University Medical Center Münster, General Dermatology and Venereology, Münster, Germany, ⁵Citryll BV, Basel, Switzerland
Background/Purpose: Neutrophil extracellular traps (NETs) contribute to the pathophysiology of multiple inflammatory and autoimmune diseases (Chirivi et al., 2021; DOI: 10.1038/s41423-020-0381-3). Targeting the NETosis pathway…
Abstract Number: 0258 • ACR Convergence 2023
Understanding Monogenic Behçet’s Disease Pathophysiology: Impact of Pathogenic Variant L227X Associated with Autoinflammatory A20 Haploinsufficiency on Cellular Survival and Proliferation
Patricia Aires¹, Daniela Pioto¹, Maria Teresa TErreri² and Sandro Perazzio³, ¹Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil, ²UNIFESP, São Paulo, Brazil, ³Universidade de Sao Paulo (Unifesp); Universidade de São Paulo (USP); Fleury Laboratories, São Paulo, Brazil
Background/Purpose: A20, encoded by TNFAIP3, plays a critical role in NF-κB pathway regulation. A20 haploinsufficiency is a monogenic disorder form of Behçet's disease with a…
Abstract Number: 0384 • ACR Convergence 2023
Targeting NET Formation in Early RA Patients; A Spin-off Study from the NORD-STAR
Bas Dijkshoorn¹, Ting Wang², Gerdur Maria Grondal³, Daisy Vedder⁴, Anna Rudin⁵, Dan Nordstrom⁶, Bjorn Gudbjornsson⁷, Kristina Lend⁸, Till Uhlig⁹, Espen Haavardsholm⁹, Merete L Hetland¹⁰, Marte Schrumpf Heiberg¹¹, Mikkel Østergaard¹², Kim Horslev-Petersen¹³, John Lampa¹⁴, Ronald van Vollenhoven¹⁵, Christian Lood² and Michael Nurmohamed¹⁶, ¹Amsterdam Rheumatology and Immunology Center, Location Reade, Amsterdam, Netherlands, ²University of Washington, Seattle, WA, ³Department for Rheumatology, Landspitali University Hospital, Reykjavik, Iceland, ⁴Reade, Amsterdam, Netherlands, ⁵Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden, ⁶Helsinki University Hospital, Helsinki, Finland, ⁷Centre for Rheumatology Research, University Hospital, Reykjavik, Iceland, ⁸Amsterdam UMC, Karolinska Institute, Stockholm, Sweden, ⁹Center for Treatment of Rheumatic and Musculoskeletal Diseases (REMEDY), Diakonhjemmet Hospital, Oslo, Norway, ¹⁰Copenhagen Center for Arthritis Research, Rigshospitalet, Copenhagen, Denmark, ¹¹Diakonhjemmet Hospital, Oslo, Norway, ¹²Copenhagen Center for Arthritis Research, Center for Rheumatology and Spine Diseases, Centre for Head and Orthopaedics, Rigshospitalet; University of Copenhagen, Copenhagen, Denmark, ¹³Danish Hospital for Rheumatic Diseases, Sønderborg, Denmark, ¹⁴Stockholm County, Hãsselby, Sweden, ¹⁵Amsterdam University Medical Centers, Amsterdam, Netherlands, ¹⁶Amsterdam University Medical Centers, Kortenhoef, Netherlands
Background/Purpose: The formation of neutrophil extracellular traps (NETs) with extrusion of nuclear, granular and cytosolic components from a dying neutrophil, has been described extensively in…
Abstract Number: 0864 • ACR Convergence 2023
Proteomic Analysis of Circulating Neutrophils from Osteoarthritis Patients Shows Metabolic Dysregulation That Is Associated with Decreased Physiologic Apoptosis
Jennifer Amsler¹, Morgane Le Gall², Camille Daste³, François Rannou³ and Véronique Witko-Sarsat², ¹Institut Cochin, Bern, Switzerland, ²Institut Cochin, Paris, France, ³Hôpital Cochin, Paris, France
Background/Purpose: Osteoarthritis (OA) has long been thought to be only of local mechanical origin. However, it has been shown recently that there is a phenotype…
Abstract Number: 0920 • ACR Convergence 2023
Proinflammatory Neutrophils and NETs Mediate Skin and Kidney Inflammation During Lupus Flare in Asymptomatic Lupus-prone Mice Triggered by UVB
Xing Lyu¹, minghui li¹, ping zhang², Wei Wei³, victoria werth⁴ and Ming-Lin Liu⁵, ¹Tianjin Medical University, Tianjin, China, ²Beaumont Hospital Royal Oak, Royal Oak, MI, ³Tianjin Medical University General Hospital, Tianjin, China, ⁴University of Pennsylvania, Wynnewood, PA, ⁵University of Pennsylvania, Philadelphia, PA
Background/Purpose: Ultraviolet B (UVB) exposure triggers lupus flare by worsening both skin lesions and systemic symptoms, i.e. lupus nephritis. We recently reported that UVB exposure…
Abstract Number: 1749 • ACR Convergence 2023
Fatty Acid Synthase Is a Critical Repressor of Ferroptosis in Rheumatoid Arthritis
Qi Cheng, Mo chen, Xin chen, Yifan Xie, Yan Du and Huaxiang wu, The Second Affiliated Hospital Of Zhejiang University School Of Medicine, Hangzhou, China
Background/Purpose: Rheumatoid arthritis (RA) is a systemic autoimmune disease with synovial inflammation as the main pathological feature, and can eventually lead to irreversible joint or…
Abstract Number: 1781 • ACR Convergence 2023
TNF Induces Neutrophil Elastase/Gasdermin D-mediated Neutrophil Extracellular Traps in Axial Spondyloarthritis
Yehao Li and Xiang Peng, Department of Rheumatology and Immunology, The Sixth Affiliated Hospital of Guangzhou Medical University, Qingyuan People’s Hospital, Qingyuan, China
Background/Purpose: Emerging studies have shown that neutrophil extracellular traps (NETs) are increased and associated with the disease activity in patients with axial spondyloarthritis (axSpA). However,…
Abstract Number: 2356 • ACR Convergence 2023
A Macrophage-Specific Mechanism for Mycophenolate Mofetil in the Treatment of Systemic Sclerosis
Emily Morris, Rezvan Parvizi, Patricia Pioli and Michael Whitfield, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Systemic Sclerosis (SSc) is a rare autoimmune connective tissue disease characterized by inflammation and fibrosis. Treatment with mycophenolate mofetil (MMF), an inhibitor of lymphocyte…
Abstract Number: 0630 • ACR Convergence 2022
Ferroptosis of CD163+ Tissue Infiltrating Macrophages in Lupus Nephritis
Qi Cheng, Huaxiang Wu and Yan Du, The Second Affiliated Hospital Of Zhejiang University School Of Medicine, Hangzhou, China
Background/Purpose: Lupus nephritis (LN) is one of the most common complications of systemic lupus erythematosus (SLE), with high morbidity and mortality. Despite a better understanding…
Abstract Number: 0653 • ACR Convergence 2022
JAK Inhibitors Counteract Cellular Toxicity of Hydroxychloroquine in Vitro
Hiroshi Kajiyama¹, Yoshimi Aizaki², Hiroaki Yazawa³, Kazuhiro Yokota³, Yasuto Araki², Yuji Akiyama² and Toshihide Mimura⁴, ¹Department of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Yokohama, Japan, ²Department of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Iruma Saitama, Japan, ³Department of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Iruma Saitama, ⁴Department of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Saitama, Japan
Background/Purpose: Hydroxychloroquine (HCQ) is an anti-malarial medicine and an immunomodulator to treat autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Clinical…
Abstract Number: 0142 • ACR Convergence 2022
A Systemic Autoinflammatory Syndrome Caused by NEMO Exon 5 Skipping
Bin Lin¹, Adriana Almeida de Jesus², Eric Karlins¹, Dana Kahle¹, Sophia Park³, Andre Rastegar¹, Jacob Mitchell⁴, sofia Torregiani¹, Farzana Bhuyan⁵, Sara Alehashemi⁶, Kader Cetin Gedik⁷, Kat Uss⁸, Eric Hanson⁹, Amer Khojah¹⁰, Eveline Wu¹¹, Christiaan Scott¹², Timothy Ronan Leahy¹³, Emma J. MacDermott¹³, Orla G. Killeen¹³, Chyi-Chia Richard Lee¹⁴, Thaschawee Arkachaisri¹⁵, Zoran Gucev¹⁶, Kathryn Cook¹⁷, Vafa Mammadova¹⁸, Gulnara Nasrullayeva¹⁸, Mariana Correia Marques¹⁹, Abigail Bosk²⁰, Seza Ozen²¹, Abigail Lang²², Brian Nolan²³, Scott Canna²⁴, Maude Tusseau²⁵, Emilie Chopin²⁵, Guilaine Boursier²⁶, Danielle Fink²⁷, Douglas Kuhns²⁷, Clifton Dalgard²⁸, Alexandre Belot²⁹, Timothy Moran³⁰, Andrew Oler³ and Raphaela Goldbach-Mansky³¹, ¹NIH, Bethesda, MD, ²NIAID, NIH, Silver Spring, MD, ³NIAID, Bethesda, MD, ⁴NIAID NIH, Bethesda, MD, ⁵National Institutes of Health, Bethesda, MD, ⁶NIH/NIAID/TADS, Clarksville, MD, ⁷Translational Autoinflammatory Diseases Section (TADS)/NIAID/NIH, Bethesda, MD, ⁸National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ⁹Indiana University School of Medicine, Indianapolis, IN, ¹⁰Umm Al-Qura University, Makkah, Saudi Arabia, ¹¹University of North Carolina, Chapel Hill, NC, ¹²University of Cape Town, Red Cross War Memorial Children's Hospital, Cape Town, South Africa, ¹³CHI at Crumlin, Dublin, Ireland, ¹⁴National Cancer Institute, National Institutes of Health, Bethesda, MD, ¹⁵KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, ¹⁶University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁷Akron Children's Hospital, Akron, OH, ¹⁸Azerbaijan Medical University, Baku, Azerbaijan, ¹⁹National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD, ²⁰Children's National Hospital, Washington, DC, ²¹Hacettepe University Faculty of Medicine, Ankara, Turkey, ²²Lurie Children's Hospital, Chicago, IL, ²³Ann & Robert H. Lurie Children's Hospital, Chicago, IL, ²⁴Children's Hospital of Philadelphia, Philadelphia, PA, ²⁵Service de Néphrologie, Rhumatologie, Dermatologie Pédiatriques, Centre de Référence des Rhumatismes Inflammatoires et Maladies Auto-Immunes Rares de l'Enfant (RAISE), Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Bron, France, ²⁶Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CEREMAIA, CHU de Montpellier, Univ Montpellier, Montpellier, France, ²⁷National Institute of Allergy and Infectious Diseases, National Institutes of Health, Frederick, MD, ²⁸The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD, ²⁹Hospices Civils de Lyon, Collonges au mont d'or, France, ³⁰University of North Carolina School of Medicine, Chapel Hill, NC, ³¹NIH/NIAID, Potomac, MD
Background/Purpose: NF-kB essential modulator (NEMO, encoded by IKBKG) is an essential gene in immune response, development, and cell death regulation. Mutations in NEMO have been…

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