Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0293 • ACR Convergence 2024
Assessment of Skin Cancer Risk in Autoimmune Diseases: A Multivariate Analysis Using a National Inpatient Database
Sami Rabah and Xiangyi Kang, Lincoln Medical Center, New York, NY
Background/Purpose: Autoimmune diseases are known to be associated with an increased risk of many types of cancers. This study investigates the association between different types…
Abstract Number: 0890 • ACR Convergence 2024
Pervasive Inflammation Poisons Hematopoiesis and Drives Clonal Dominance in VEXAS Syndrome
Corrado Campochiaro¹, Molteni raffaella², Martina Fiumara³, Alessandro Tomelleri⁴, Elisa Diral⁵, Davide Stefanoni⁶, Angelica Varesi⁶, Alessandra Weber⁷, Roberta Alfieri⁸, Luisa Albano⁷, Maddalena Panigada⁶, Eleonora Cantoni⁶, Daniele Canarutto⁹, Luca Basso-Ricci¹⁰, Pamela Quaranta⁷, Angelo D’Alessandro¹¹, Gregorio Bergonzi¹², Marco Matucci-Cerinic¹³, Raffaella Di Micco³, Alessandro Aiuti³, Fabio Ciceri¹², Ivan Merelli³, Lorenzo Dagna¹⁴, Serena Scala³, Simone Cenci⁶, Luigi Naldini³, Samuele Ferrari³ and Giulio Cavalli¹⁵, ¹IRCCS San Raffaele Hospital. Vita-Salute San Raffaele University, Milan, Milan, Italy, ²Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Italy, ³San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Italy, ⁴Unit of Immunology, Allergology and Rare Diseases, IRCCS Ospedale San Raffaele, Milano, Italy, ⁵Unit of Haematology and Bone Marrow Transplantation, IRCCS San Raffaele Hospital, Milan, Italy, Milan, Lombardia, Italy, ⁶Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy, Milan, Lombardia, Italy, ⁷San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy, ⁸Institute for Biomedical Technologies, National Research Council, Segrate, Italy, ⁹Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy, ¹⁰San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milano, Italy, ¹¹Department of Biochemistry and Molecular Genetics, University of Colorado Denver - Anschutz Medical Campus, Autora, CO, ¹²Unit of Haematology and Bone Marrow Transplantation, IRCCS San Raffaele Hospital, Milan, Italy, Milan, Italy, ¹³University San Raffaele Milano, Milano, Milan, Italy, ¹⁴Ospedale San Raffaele, Milano, Italy, ¹⁵Vita-Salute San Raffaele University, Milan, Italy
Background/Purpose: VEXAS syndrome is an adult-onset, X-linked, life-threatening, autoinflammatory and hematological disease caused by somatic mutation in UBA1 gene. Our study aims at uncovering pathophysiology…
Abstract Number: 1214 • ACR Convergence 2024
All-Cause Mortality in Patients with Chronic Musculoskeletal Pain Using Pregabalin or Duloxetine: A Retrospective Cohort Study in US Veterans
Sachalee Campbell¹, Laura L. Daniel², Alyson L. Dickson³, Otis Wilson³, C. Michael Stein³, Puran Nepal⁴, Adriana M. Hung⁵ and Cecilia P. Chung², ¹University of Miami/ Jackson Health System, Miami, FL, ²University of Miami, Miami, FL, ³Vanderbilt University Medical Center, Nashville, TN, ⁴Vanderbilt University Medical Center, Vanderbilt, TN, ⁵Veterans Administration Tennessee Valley Healthcare System, Nashville, TN
Background/Purpose: Musculoskeletal pain affects more than 10% of the general population. Recent trends in managing chronic musculoskeletal pain have favored non-opioid analgesics, for example, pregabalin,…
Abstract Number: 1997 • ACR Convergence 2024
Features of interleukin-1 and interleukin-6 Inhibitor (IL-1i/IL-6i) Related Severe Delayed Adverse Reactions in Subjects with or Without Reaction-risk Associated HLA-DRB1*15
Vivian E Saper¹, Kazutoyo Osoegawa¹, Ruud Verstegen², Marcelo A Fernandez Vina¹ and Lu Tian¹, and Drug Hypersensitivity Consortium, ¹Stanford University, Stanford, CA, ²The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: A very serious drug-related adverse event is reported with inhibitors of IL-1 and IL-6 (IL-1i/IL6i). This reaction scores as drug reaction with eosinophilia and…
Abstract Number: 2199 • ACR Convergence 2024
Mycobacterial Infection and Renal and Bladder Malignancy in 2 IFNopathy Patients on High Doses of JAK Inhibitors
Sara Alehashemi¹, Kader Cetin Gedik², Cassandra Calabrese³, Sherry Nguyen⁴, Alexi Baumgardner⁴, Katsiaryna Uss⁴, Kip Friend⁴, Ariane Soldatos⁵, Adriana Almeida de Jesus⁶ and Raphaela Goldbach-Mansky⁷, ¹NIH/NIAID/TADS, Potomac, MD, ²Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Pittsburgh, PA, ³Cleveland Clinic Foundation, Cleveland Heights, OH, ⁴Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Bethesda, MD, ⁵NINDS/NIH, Bethesda, MD, ⁶NIAID, NIH, Silver Spring, MD, ⁷Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Potomac, MD
Background/Purpose: Autoinflammatory Type I Interferonopathies (IFNopathies) include STINGopathies (e.g., SAVI and COPA syndrome), proteasomopathies (e.g., CANDLE/Proteasome associated autoinflammatory syndrome (PRAAS), and oligonucleotidopathies (e.g., AGS: Aicardi-Goutières…
Abstract Number: 0294 • ACR Convergence 2024
Obesity and Risk of Autoimmune Diseases: Insights from the National Inpatient Sample
Sami Rabah and Xiangyi Kang, Lincoln Medical Center, New York, NY
Background/Purpose: Obesity has been implicated as a risk factor in developing various cardiovascular, respiratory, and other health complications. However, the link between obesity and autoimmune…
Abstract Number: 0917 • ACR Convergence 2024
Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Mutations in Familial Mediterranean Fever
Aysima Hacisuleyman¹, Ahmet Gul² and Burak Erman³, ¹Department of Computational Biology, University of Lausanne, Lausanne, Switzerland, ²Division of Rheumatology, Department of Internal Medicine, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, Istanbul, Turkey, ³3Chemical and Biological Engineering, Koc University, Istanbul, Turkey
Background/Purpose: Predicting the pathogenicity of amino acid substitutions is crucial for understanding the functional consequences of genetic variations. Several computational methods frequently used so far…
Abstract Number: 1215 • ACR Convergence 2024
Mortality in US Veterans with Musculoskeletal Conditions Using Cyclobenzaprine or Baclofen
Maria Intriago¹, Puran Nepal², Laura L. Daniel¹, Alyson L. Dickson³, Otis Wilson³, C. Michael Stein³, Adriana M. Hung⁴ and Cecilia P. Chung¹, ¹University of Miami, Miami, FL, ²Vanderbilt University Medical Center, Vanderbilt, TN, ³Vanderbilt University Medical Center, Nashville, TN, ⁴Veterans Administration Tennessee Valley Healthcare System, Nashville, TN
Background/Purpose: Cyclobenzaprine is a commonly-used centrally-acting muscle relaxant; it has been approved for short-term treatment of muscle spasms associated with acute musculoskeletal pain despite limited…
Abstract Number: 1998 • ACR Convergence 2024
Association Between Small Interfering RNA Therapy and Autoimmune Diseases: U.S. Prospective Cohort Study
Liang Sien Chen, Chang Gung Memorial Hospital, Linkou Branch, Taoyuan City, Taoyuan, Taiwan (Republic of China)
Background/Purpose: Monoclonal antibody (mAb) therapy and small interfering RNA (siRNA) therapy represent two cutting-edge approaches in treating various diseases, such as hyperlipidemia. Our study aims…
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: 0301 • ACR Convergence 2024
Path to Diagnosis in Familial Mediterranean Fever (FMF)
Sejla Karup¹, Dila Polat², Erengul Dincsoy², Feyza Nur Azman², Mahir Emir Cokrak², Ertan Berkiten² and Serdal Ugurlu³, ¹Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ²Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey, ³Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent febrile episodes and inflammation, most commonly presenting with peritonitis, pleuritis, and arthritis. The…
Abstract Number: 0920 • ACR Convergence 2024
TGF-β Activated Kinase 1 Inhibition by Pentagalloyl Glucose Inhibits NLRP3 Inflammasome Formation and Ameliorates MSU-Induced Inflammation
Paul Panipinto¹ and Salahuddin Ahmed², ¹Washington State University College of Pharmaceutical Science and Molecular Medicine, Spokane, WA, ²Washington State University, Spokane, WA
Background/Purpose: Monosodium urate (MSU)-induced inflammation is caused by the deposition of MSU crystals in the joints and periarticular tissues under conditions of hyperuricemia. These deposits…
Abstract Number: 1394 • ACR Convergence 2024
Nationwide Retrospective Cohort Study on Clinical Outcomes in Rheumatoid Arthritis Patients Treated with JAK Inhibitors
Yurilu Gonzalez Moret¹, Diego Lema² and Fabian Rodriguez Quinonez³, ¹Jefferson Einstein Hospital, Philadelphia, PA, ²Universidad Central de Venezuela, University of Wisconsin, Philadelphia, PA, ³Einstein Medical Center Philadelphia, Philadelphia, PA
Background/Purpose: Janus kinase inhibitors (JAKi) are a class of disease activity-modifying drugs (DMARDs) that have quickly established a role in managing rheumatoid arthritis. Inhibition of…
Abstract Number: 2025 • ACR Convergence 2024
Autonomic Nervous System Dysfunction Common Among Patients with Long COVID:Diagnosis and Treatment Implications
Norman Gaylis¹, Odence DeLaRosa², Joanne Sagliani¹ and Andrew Holman³, ¹Arthritis & Rheumatic Disease Specialties, Aventura, FL, ²Arthritis & Rheumatic Disease Specialties., Aventura, FL, ³Inmedix, Inc, Seattle, WA
Background/Purpose: Up to 70% of the 236 million people who have been diagnosed with COVID-19 develop some post-COVID symptoms, i.e. post-acute sequalae of SARS-CoV-2 (PASC)…
Abstract Number: 2202 • ACR Convergence 2024
Evolving Phenotypic and Genotypic Spectrum of Human ISG15 and USP18 Deficiencies
Alhanouf Alsaleem¹, Wafaa Abdulghaffar², Lujain Akbar³, Meshal Alhassan⁴, Fatimah Alkhars⁵ and Sulaiman Al-Mayouf⁶, ¹KFSH&RC, Riyadh, Saudi Arabia, ²KFSHRC, RIYADH, RIYADH, ³RIYADH, RIYADH, Saudi Arabia, ⁴Imam Abdulrahman Bin Faisal University, DAMMAM, ⁵Maternity and children hospital, ALHASSA, ⁶KFSHRRC, Riyadh, Saudi Arabia
Background/Purpose: Loss of negative regulator in ISG15 and USP18 results in recently described immunodysregulatory disorders with diversity of clinical characteristics related to enhanced IFN-a/b immunity.…

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