Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0039.5 • ACR Convergence 2023
Cytokine-induced Transcriptome Modification Elucidates the Similarity and Dissimilarity Across 10 Immune-related Diseases
Haruka Takahashi¹, Hiroaki Hatano², Masahiro Nakano³, Haruka Tsuchiya⁴, Mineto Ota⁴, Tomohisa Okamura⁵, Keishi Fujio⁴ and Kazuyoshi Ishigaki⁶, ¹Laboratory for Human Immunogenetics, RIKEN Center for Integrative Medical Sciences and Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ²Laboratory for Human Immunogenetics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan, ³Laboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan, ⁴Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ⁵Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo and Department of Functional Genomics and Immunological Diseases, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ⁶RIKEN, Tokyo, Japan

Background/Purpose: Abnormal cytokine regulation is the fundamental pathology of immune-mediated diseases (IMDs). Clinical transcriptome data has a potential to monitor real-time cytokine pathway activities of…
Abstract Number: 0539 • ACR Convergence 2023
Impact of Extreme Baseline BASDAI and/or Maastricht AS Enthesitis Score on Treatment Response to Upadacitinib in Patients with Axial Spondyloarthritis
Maxime Dougados¹, David Bulbin², Heather Jones³, Tianming Gao⁴, Anna Shmagel⁵, Thomas Poznanski⁶, Abhijeet Danve⁷ and Karl Gaffney⁸, ¹Université de Paris, Paris, France, ²Geisinger Health System, Danville, PA, ³AbbVie, Inc., Mettawa, IL, ⁴AbbVie, Inc., North Chicago, IL, ⁵AbbVie, Inc., Long Grove, IL, ⁶AbbVie, Inc., Plainfield, IL, ⁷Yale University, New Haven, CT, ⁸Norfolk and Norwich University Hospital NHS Trust, Norfolk, United Kingdom
Background/Purpose: Axial SpA (axSpA) and FM manifest with overlapping clinical features such as pain, fatigue, and stiffness, yet their treatment is distinctly different. FM is…
Abstract Number: 1240 • ACR Convergence 2023
Obvious Only in Retrospect: A Cohort of STING Associated Vasculopathy in Infancy (SAVI) Without Typical Rash
Ilaria Maccora¹, Patricia Vega-Fernandez², Kimberly Risma³ and Grant Schulert⁴, ¹PhD student, in the Area of Drugs and Innovative Treatments, NeuroFARBA Department, University of Florence. Meyer Children's Hospital, Firenze, Italy, ²Division of Rheumatology, Cincinnati Children's Hospital, Medical Centre, Cincinnati, OH, ³Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: STING-associated vasculopathy with onset in infancy (SAVI) is characterized by systemic inflammation, skin vasculopathy and interstitial lung disease. However, since the initial description knowledge…
Abstract Number: 1936 • ACR Convergence 2023
Higher Rates of Disease Control During the Coronavirus Pandemic in Pediatric Patients with Autoinflammatory Periodic Diseases on Canakinumab Treatment – Interim Data from the RELIANCE Registry
Gerd Horneff¹, Norbert Blank², Jasmin B. Kuemmerle-Deschner³, Joerg Henes⁴, Birgit Kortus-Goetze⁵, Prasad T. Oommen⁶, Anne Pankow⁷, Tobias Krickau⁸, Catharina Schuetz⁹, Ivan Foeldvari¹⁰, Juergen Rech¹¹, Frank Weller-Heinemann¹², Ales Janda¹³, Markus Hufnagel¹⁴, Florian M. Meier¹⁵, Frank Dressler¹⁶, Michael Borte¹⁷, Ioana Andreica¹⁸, Peter Wasiliew¹⁹, Michael Fiene²⁰, Daniel Windschall²¹, Martin Krusche²², Tania Kuempfel²³, Julia Weber-Arden²⁴ and Tilmann Kallinich²⁵, ¹Asklepios Klinik Sankt Augustin GmbH, Bonn, Germany, ²University Hospital Heidelberg, Heidelberg, Germany, ³med.uni-tuebingen, Tübingen, Germany, ⁴University Hospital Tuebingen, Tuebingen, Germany, ⁵Department of Internal Medicine, Division of Nephrology,University Hospital of Giessen and Marburg, Marburg, Germany, ⁶Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health,Medical Faculty Heinrich-Heine-University Duesseldorf, Duesseldorf, Germany, ⁷Department of Rheumatology and Clinical Immunology,Charité-Universitätsmedizin Berlin, Berlin, Germany, ⁸Pediatrics, Friedrich-Alexander University Erlangen-Nuernberg (FAU), Erlangen, Germany, ⁹Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus,Technische Universität Dresden, Dresden, Germany, ¹⁰Hamburger Zentrum für Kinder- und Jugendrheumatologie, Hamburg, Germany, ¹¹University Clinic Erlangen, Erlangen, Germany, ¹²Division of Pediatric Rheumatology, Prof. Hess Children's Hospital, Bremen, Bremen, Germany, ¹³Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany, ¹⁴Division of Pediatric Infectious Diseases and Rheumatology, Department of Pediatrics and Adolescent Medicine, University Medical Center, Medical Faculty, University of Freiburg, Freiburg, Germany, ¹⁵Department of General Pharmacology and Toxicology, Goethe University Hospital and Goethe University Frankfurt, Frankfurt am Main, Germany, ¹⁶Department of Paediatric Pneumology, Allergology and Neonatology, Children's Hospital, Hannover Medical School, Hannover, Germany, ¹⁷Hospital for Children & Adolescents, St. Georg Hospital, Leipzig, Germany, ¹⁸Rheumazentrum Ruhrgebiet Herne, Herne, Germany, ¹⁹Division of Pediatric Rheumatology and autoinflammation reference center Tuebingen, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ²⁰Rheumatology Center Greifswald, Greifswald, Germany, ²¹Clinic of Paediatric and Adolescent Rheumatology, St. Josef-Stift Sendenhorst, Northwest German Center for Rheumatology, Sendenhorst, Germany, ²²UKE, Hamburg, Germany, ²³Institute of Clinical Neuroimmunology, Biomedical Center and University Hospital, Ludwig-Maximilians Universität München, Muenchen, Germany, ²⁴Novartis Innovative Medicines, Nuernberg, Germany, ²⁵Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, Nuremberg, Germany
Background/Purpose: Pediatric patients with autoinflammatory diseases (AID) on Canakinumab (CAN) therapy have been affected by the coronavirus pandemic including SARS-CoV-2 infection, SARS-CoV-2 vaccination, and AID…
Abstract Number: 0087 • ACR Convergence 2023
Immune Checkpoint Inhibitor Therapy Expands an Activated, anti-PD-1 Drug-bound CD8 T Cell Population That Is Clonally Linked in Blood and Synovial Fluid of ICI-arthritis Patients
Kathryne Marks¹, Anvita Singaraju², Runci Wang³, Ifeoluwakiisi Adejoorin¹, Miriam Fein², Michael Postow⁴, Karmela Kim Chan², Anne Bass⁵, Laura Donlin² and Deepak Rao¹, ¹Brigham and Women's Hospital, Boston, MA, ²Hospital for Special Surgery, New York, NY, ³Renji hospital, Shanghai Jiaotong University, Pudong Xinqu, China, ⁴Memorial Sloan Kettering Cancer Center, New York, NY, ⁵Hospital for Special Surgery, Weill Cornell Medicine, New York, NY
Background/Purpose: Immune checkpoint inhibitor (ICI) therapies used to treat cancer can induce immune related Adverse events (irAEs) such as ICI-induced arthritis (ICI-arthritis). We have previously…
Abstract Number: 0695 • ACR Convergence 2023
Impact and Cardiovascular Outcomes of Large Vessel Vasculitis in Atrial Fibrillation Hospitalization: A Nationwide Inpatient Database Study
Sabahat Usmani¹, Yanint Raksadawan¹, Amro Taha¹, Harigopal Sandhyavenu¹, Jalpan Patel¹, Thatiana Schulze Goni¹, Hafiz Muhammad Waqar Younas¹ and Irisha Badu², ¹Weiss Memorial Hospital, Chicago, IL, ²Onslow Memorial Hospital, Jacksonville, FL
Background/Purpose: Atrial fibrillation is the most commonly treated cardiac arrhythmia, associated with significant morbidity and mortality. Recent research is suggestive that autoimmunity and inflammation might…
Abstract Number: 1355 • ACR Convergence 2023
Delivering Care for Pregnant Women with Rheumatic and Musculoskeletal Diseases in Ireland: Current Challenges and Practices
Rebecca O'Farrell¹, Sinead Maguire², Louise Moore³, Kieran Murray⁴, Áine Gorman⁵, Elisabeth Ball⁶, Claire Riddell⁶, Madeline O'Neill⁷, Natasha Jordan⁸, Barry O'Shea⁹, Douglas Veale¹⁰, Suzanne Donnelly¹¹, Grainne Murphy¹² and Gillian Fitzgerald¹³, ¹Department of Rheumatology, Galway, Dublin, Ireland, ²Toronto Western Hospital, Toronto, ON, Canada, ³Our Lady's Hospice and Care Services, Harold's Cross, Dublin 6W, Harold's Cross,, Ireland, ⁴University Hospital Limerick, Limerick, Ireland, ⁵Royal United Hospital, Bath, United Kingdom, ⁶Belfast Health and Social Care Trust, Belfast, United Kingdom, ⁷Our Lady's Hospice, Harold's Cross, Dublin, Ireland, ⁸Addenbrooke's Hospital, Cambridge, United Kingdom, ⁹St James's Hospital, Dublin, Ireland, ¹⁰St.Vincent's University Hosp, Dublin, Ireland, ¹¹Mater Misericordiae University Hospital, Dublin, Ireland, ¹²Cork University Hospital, Cork, Ireland, ¹³University Hospital Galway, Galway, Ireland
Background/Purpose: Rheumatic disease frequently affects women of childbearing age. Women with pre-existing rheumatic disease who are planning a pregnancy or develop these conditions during pregnancy…
Abstract Number: 1941 • ACR Convergence 2023
Identification of VEXAS Syndrome in Mexican Patients with Inflammatory and Hematologic Manifestations
Eduardo Martin-Nares¹, Beatriz E. Sánchez-Hernández², Peter Grayson³, Jose Crispin¹, Daniel Montante-Montes de Oca², Andrea Hinojosa-Azaola¹, Gabriela Hernandez-Molina¹, Elia Apodaca⁴, Emma M. Groarke⁵, Jesús Delgado-de la Mora², Silvia Méndez-Flores⁶, Armando Gamboa-Domínguez², Bhavisha Patel⁷ and Marcela Ferrada⁸, ¹Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ²Department of Pathology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ³National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD, ⁴Department of Oncology and Hematology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ⁵Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health (NIH), Bethesda, MD, ⁶Department of Dermatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ⁷National Institutes of Health, Beltsville, MD, ⁸National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: There is limited information on VEXAS syndrome in the Latin-American population. We aimed to identify UBA1 mutations causing VEXAS syndrome in Mexican patients presenting…
Abstract Number: 0112 • ACR Convergence 2023
Molecular Stratification of Antiphospholipid Syndrome Patients Through Integrative Analysis of the Whole-blood RNA Transcriptome
Amala Ambati¹, Feiyang Ma¹, Katarina Kmetova¹, Sherwin Navaz¹, Claire Hoy¹, Cyrus Sarosh¹, Ajay Tambralli¹, Johann E. Gudjonsson¹, J. Michelle Kahlenberg¹, Jacqueline Madison¹, Ali Duarte-Garcia², Jason Knight¹ and Yu Zuo¹, ¹University of Michigan, Ann Arbor, MI, ²Mayo Clinic, Rochester, MN
Background/Purpose: Antiphospholipid syndrome (APS) is an acquired thrombo-inflammatory disease associated with diverse clinical manifestations in the setting of persistent antiphospholipid antibodies (aPL). Early diagnosis and…
Abstract Number: 0737 • ACR Convergence 2023
Unraveling Pathophysiology and Hematopoiesis of VEXAS Syndrome by Multi-omics Analysis and Targeted Gene Editing
Corrado Campochiaro¹, Raffaella Molteni², Martina Fiumara³, Alessandro Tomelleri⁴, Elisa Diral⁵, Davide Stefanoni², Angelica Varesi³, Alessandra Weber³, Roberta Alfieri⁶, Luisa Albano³, Maddalena Panigada², Eleonora Cantoni², Daniele Canarutto³, Luca Basso-Ricci³, Pamela Quaranta³, Angelo D’Alessandro⁷, marco Matucci Cerinic⁸, Raffaella Di Micco³, Serena Scala³, Alessandro Aiuti³, Fabio Ciceri⁵, Ivan Merelli³, Lorenzo Dagna⁹, Simone Cenci², Luigi Naldini³, Samuele Ferrari³ and Giulio Cavalli², ¹IRCCS San Raffaele Hospital, Unit of Immunology, Rheumatology, Allergy and Rare Disease. Vita-Salute San Raffaele University, Milan, Italy, ²Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy, ³San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy, ⁴Unit of Immunology, Rheumatology, Allergy and Rare Diseases, San Raffaele Scientific Institute, Milano, Italy, ⁵Unit of Haematology and Bone Marrow Transplantation, IRCCS San Raffaele Hospital, Milan, Italy, ⁶Institute for Biomedical Technologies, National Research Council, Segrate, Italy, ⁷Department of Biochemistry and Molecular Genetics, University of Colorado Denver - Anschutz Medical Campus, Aurora, CO, ⁸Unit of Immunology, Rheumatology, Allergy and Rare diseases, IRCCS San Raffaele Hospital, Milan, Milan, Italy, ⁹Department of Internal Medicine, IRCCS San Raffaele Hospital and Vita-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. To understand its pathophysiology, we aimed…
Abstract Number: 1360 • ACR Convergence 2023
Factors Associated with Medication-related Concerns in Women with Inflammatory Rheumatic Diseases – an Analysis of a Nationwide Pregnancy Cohort
Yvette Meissner¹, Bernhard Eickhoff¹, Cornelia Glaser², Joerg Henes³, Jutta Richter⁴, Susanna Spaethling-Mestekemper⁵, Christof Specker⁶, Rebecca Fischer-Betz⁴ and Anja Strangfeld¹, ¹German Rheumatism Research Center, Berlin, Germany, ²Department of Rheumatology and Clinical Immunology University Medical Center Freiburg, Freiburg, Germany, ³University Hospital Tuebingen, Tuebingen, Germany, ⁴Clinic for Rheumatology and Hiller Research Unit, Heinrich-Heine-University Duesseldorf, Medical Faculty, Düsseldorf, Germany, ⁵Rheumapraxis Muenchen, Muenchen, Germany, ⁶Department of Rheumatology and Clinical Immunology, Kliniken Essen-Mitte, Essen, Germany
Background/Purpose: Pregnancies in women with chronic diseases are often accompanied by concerns about potential complications [1]. This analysis explored medication-related concerns among women with inflammatory…
Abstract Number: 2039 • ACR Convergence 2023
Clinical, Immunologic, and Genetic Characteristics in Patients with Syndrome of Undifferentiated Recurrent Fevers (SURF)
Marci Macaraeg, Michael Matt, Elizabeth Handorf, Elizabeth Baker and Grant Schulert, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Unexplained recurrent fevers are a common presentation to pediatric rheumatology and a significant burden to affected families due to missed daycare or school days…
Abstract Number: 0143 • ACR Convergence 2023
Cancer Incidence in Familial Mediterranean Fever
Sura Nur Baspinar¹, Berkay Kilic², Feyza Azman³, Mebrure Burcak Yuzbasioglu¹, Yelin Guler², Muhammet Kadir Tanin², Ulgar Boran Gunay², Gunay Can⁴ and Serdal Ugurlu⁵, ¹Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey, ²Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey, ³Cerrahpasa Faculty of Medicine, Istanbul, Turkey, ⁴Department of Public Health, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey, ⁵Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is the most common hereditary monogenic fever syndrome characterized by recurrent attacks of fever and polyserositis. Anti-inflammatory drugs, with colchicine…
Abstract Number: 0759 • ACR Convergence 2023
Derivation and Validation of Four Patient Clusters in Still’s Disease, Results from GIRRCS AOSD-study Group and AIDA Network Still Disease Registry
Piero Ruscitti¹, Antonio Vitale², Ilenia Di Cola¹, Roberto giacomelli³ and Luca Cantarini⁴, ¹University of L'Aquila, L'Aquila, Italy, ²University of Siena, Siena, Italy, ³University of Rome Campus Biomedico, Rome, Italy, ⁴Department of Medical Sciences, Surgery and Neurosciences, Rheumatology Unit, University of Siena and Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center], Siena, Italy
Background/Purpose: Still's disease is a rare inflammatory disorder, these patients have a highly heterogeneous disease according to age of onset, clinical presentation, presence of life-threatening…
Abstract Number: 1590 • ACR Convergence 2023
Autoimmune Pathway Blockade by a Potent Orally Bioavailable STING Antagonist
Min Yang¹, Hailong Li¹, yangyang liu¹, lili yao¹, Jing Lin¹, Zhi xie² and Wenge zhong¹, ¹Regor Therapeutics, Shanghai, China, ²Regor Pharmaceuticals, Inc., San Francisco, CA
Background/Purpose: The cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) pathway has emerged as a key innate immune mediator of autoimmune and inflammatory diseases. However,…

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