ACR Meeting Abstracts

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Abstracts tagged "Gene Expression"

  • Abstract Number: 0763 • ACR Convergence 2024

    Transcriptional Analysis of Both Normal and Abnormal TABs in Biopsy-proven GCA Reveals a Shared Gene Expression Profile Compared to Clinically Diverse Controls

    Ingrid Lindquist1, Dongseok Choi2, Suzanne Fei3, Kiana Vakil-Gilani4, Daniela Ghetie1, David Wilson5, Diva Salomao6, Hillary Stiefel7, Daniel Albert7, James Rosenbaum8 and Marcia Friedman1, 1OHSU, Division of Arthritis and Rheumatic Diseases, Portland, OR, 2OHSU, School of Public Halth, Portland, OR, 3OHSU, Oregon National Primate Research Center, Portland, OR, 4OHSU, Division of Arthritis and Rheumatic Diseases, Porltand, OR, 5OHSU, Casey Eye Institute, Porrtland, OR, 6Mayo Clinic, Division of Anatomic Pathology, Rochester, MN, 7OHSU, Casey Eye Institute, Portland, OR, 8Corvus Pharmaceuticals and Legacy Devers Eye Institute, Portland, OR

    Background/Purpose: Giant cell arteritis (GCA) is the most common vasculitis in people over 50 years old and is a clinical diagnosis bolstered by pathologic findings on temporal…
  • Abstract Number: 1643 • ACR Convergence 2024

    Single Nuclei Multiome and Spatial Transcriptomic Analysis of Early, Untreated SSc Skin Identifies Signaling Interactions Between Macrophages and Fibroblasts

    Helen Jarnagin1, Dillon Popovich2, Rezvan Parvizi3, Rosemary Gedert4, Lam C. Tsoi5, Rachael Wasikowski5, Zhiyun Gong1, Madeline Morrisson6, Laurent Perreard7, Fred Kolling IV7, Dinesh Khanna4, Johann Gudjonsson4 and Michael Whitfield3, 1Dartmouth College, Lebanon, NH, 2Dartmouth College, West Lebanon, NH, 3Geisel School of Medicine at Dartmouth, Hanover, NH, 4University of Michigan, Ann Arbor, MI, 5Michigan, Dept. of Dermatology, Ann Arbor, MI, 6Geisel School of Medicine at Dartmouth College, Hanover, NH, 7Geisel School of Medicine, Dartmouth College, Lebanon

    Background/Purpose: We generated a vertically integrated dataset on treatment naïve patients with dcSSc (diffuse Systemic Sclerosis) skin that includes bulk RNA-seq, single nuclei multiome, and…
  • Abstract Number: 2385 • ACR Convergence 2024

    Increased Type I Interferon Inducible Genes Expression in the Peripheral Blood of Patients Presenting Cutaneous Lupus Erythematosus Manifestations

    Anastasia- Bilio Chronopoulou1, Maria Gerochristou2, Sylvia Raftopoulou3, Alexander Stratigos4 and Clio Mavragani5, 1National and Kapodistrian University of Athens, Athens, Greece, 2Andreas Syggros Hospital, National and Kapodistrian University of Athens, Athens, Greece, 3Molecular and Applied Physiology Unit, Department of Physiology, School of Medicine, National and Kapodistrian University of Athens., Athens, Greece, 41st Department of Dermatology-Venereology, Faculty of Medicine, Andreas Sygros Hospital, National and Kapodistrian University of Athens, Athens, Greece, 5Department of Physiology and Pathophysiology, School of Medicine, National and Kapodistrian University of Athens., Athens, Greece

    Background/Purpose: Cutaneous Lupus Erythematosus (CLE) is a chronic autoimmune skin disease characterized by a spectrum of cutaneous manifestations resulting from immune dysregulation and inflammation. While…
  • Abstract Number: 0766 • ACR Convergence 2024

    Neutrophil Transcriptomics in VEXAS Syndrome

    Chloe Palmer1, Gustaf Wigerblad1, Tom Hill2, Bhavisha Patel3, Emma Groarke4, Neal Young4, Stefania Dell'Orso5 and Peter Grayson6, 1National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, 2National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, 3National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Beltsville, MD, 4National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, 5National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, 6National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD

    Background/Purpose: Vacuoles, E1 ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene and…
  • Abstract Number: 1767 • ACR Convergence 2024

    Endothelial Cell-Driven JAG/NOTCH Signaling in Localized Scleroderma Patients

    Theresa Hutchins1, Anwesha Sanyal1, Deren Esencan1 and Kathryn Torok2, 1University of Pittsburgh, Pittsburgh, PA, 2Division of Rheumatology, Scleroderma Center, Department of Pediatrics, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA, Pittsburgh, PA

    Background/Purpose: Localized scleroderma is a rare autoimmune disease primarily affecting the skin and underlying tissue. While its exact pathogenesis remains unclear, studies suggest links to…
  • Abstract Number: 2387 • ACR Convergence 2024

    Biomarkers of Lupus Nephritis Are Less Predictive in APOL1 High Risk Genotype Lupus

    Madeline Alizadeh1, Vishnuprabu Pandian1, Christele Felix2, Andrra Nimoni2, Jasmin Divers3, Timothy Niewold2 and Ashira Blazer1, 1University of Maryland Baltimore, Baltimore, MD, 2Hospital for Special Surgery, New York, NY, 3NYU School of Medicine, New York, NY

    Background/Purpose: Compared to Apolipoprotein L1 (APOL1) low risk genotype (LRG) patients, APOL1 (HRG) has been shown to increase the risk of chronic kidney disease in…
  • Abstract Number: 0778 • ACR Convergence 2024

    Comprehensive Immune Profiling of Anti-CD19 Chimeric Antigen Receptor T-Cell Therapy in Patients with Autoimmune Disease

    Justin Chou1, Ricardo Grieshaber-Bouyer2, Michelle J Wu3, Christina Bergmann2, Jule Taubmann4, Fabian Müller5, Aline Bozec4, Tobias Rothe2, Andreas MAckensen6, Amber Podoll7, Jonathan Gutman7, Aiden Haghikia8, Dimitrios Mougiakakos9, Gary Tong3, Pouya Kheradpour3, Francis Kim10, Prameela Ramesan10, Brandon Kwong10, Kunbin Qu10, Bishwa Ganguly10, Dominic Borie10, James Chung10 and Georg Schett11, 1Kyverna Therapeutics, Emeryville, CA, 2Department of Medicine 3 - Rheumatology and Immunology, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg and Uniklinikum Erlangen, Erlangen, Germany, 3Verily Life Sciences, South San Francisco, CA, 4Friedrich-Alexander Universität Erlangen-Nürnberg and Universitätsklinikum Erlangen, Erlangen, Germany, 5Department of Medicine 5 - Hematology and Oncology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) and Uniklinikum Erlangen, Erlangen, Germany, 6Department of Medicine 5 - Hematology and Oncology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) and Uniklinikum Erlangen, Erlangen, Bayern, Germany, 7University of Colorado Anschutz Medical Campus, Aurora, CO, 8Otto-von-Guericke University, Magdeburg, Germany, 9Otto-von-Guericke University, Magdeburg, Germany, Magdeburg, Germany, 10Kyverna Therapeutics, Inc., Emeryville, CA, 11Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany

    Background/Purpose: Anti-CD19 chimeric antigen receptor (CAR) T-cell therapy represents a promising advancement in the treatment of autoimmune diseases, including systemic sclerosis (SSc), idiopathic inflammatory myopathy…
  • Abstract Number: 1769 • ACR Convergence 2024

    Top Peripheral Blood Transcriptomic Gene Modules Reveal Functional Annotation and Correlation with Clinical Traits in Juvenile Dermatomyositis (JDM) and Myositis-Specific Autoantibody (MSA) Groups

    Ujana Zajmi1, Megan Darrell1, Amy Kaneshiro1, Adeline Chin1, Adriana Jesus2, Stephen Brooks1, Raphaela Goldbach-Mansky2, Lisa Rider3 and Hanna Kim4, 1NIH/NIAMS, Bethesda, MD, 2NIH/NIAD, Bethesda, MD, 3NIEHS, NIH, Garrett Park, MD, 4National Institute of Arthritis Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD

    Background/Purpose: Myositis-specific autoantibody (MSA) subgroups define phenotypes associated with specific clinical traits and outcomes within JDM, a clinically heterogeneous autoimmune disease. The pathogenesis of JDM…
  • Abstract Number: 2418 • ACR Convergence 2024

    Identification of Co-expressed Molecular Markers That Predict Risk of Severe Flare in Patients with Systemic Lupus Erythematosus (SLE)

    Matthew Linnik1, Guilherme Rocha2, David Gemperline3, Ernst Dow3, Christoph Preuss3, Helen Masson4, Olivia Ellis4, Ana Accioly3, Maja Hojnik5, Kira Rubtsova1, Robert Benschop6, Mark Chambers7, Mark Genovese3 and Richard Higgs3, 1Eli Lilly, San Diego, CA, 2Eli Lilly, Indianapolis, IN, 3Eli Lilly and Co, Indianapolis, IN, 4Eli Lilly and Co, San Diego, CA, 5Eli Lilly and Co., Indianapolis, IN, 6Eli Lilly and Company, Indianapolis, IN, 7Eli Lilly, Zionsville, IN

    Background/Purpose: SLE flare is a clinically and regulatory relevant outcome, yet limited markers currently exist that predict its risk. We used baseline whole blood/serum samples…
  • Abstract Number: 0783 • ACR Convergence 2024

    Spatial Reconstruction of Interstitial Lung Disease

    Miles Tran1, Ce Gao1, Mukta G Palshikar1, Jessica Liu1, Mari Kamiya1, Gregory McDermott2, Elena Joerns3, Daimon Simmons1, Rachel Gate4, Deepak Rao5, Jeffrey Sparks6, Edy Kim7, Kevin Wei8 and ilya Korsunsky1, 1Brigham and Women's Hospital, Boston, MA, 2Brigham and Women's Hospital, Brookline, MA, 3Mayo Clinic, Rochester, MN, 410x Genomics, Pleasanton, CA, 5Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 6Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA, Boston, MA, 7Brigham and Women's Hospital, Cambridge, MA, 8Brigham and Women's Hospital at Harvard Medical School, Boston, MA

    Background/Purpose: Interstitial lung disease encompasses a heterogenous group of conditions broadly characterized by inflammation and progressive fibrosis of the lung[1]. There remains an ongoing search…
  • Abstract Number: 1773 • ACR Convergence 2024

    Divergent Genetic Architecture in Boys and Girls with NEMO-deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) Implies Role for Wildtype Effector Cells

    Adriana Almeida de Jesus1, Kip Friend2, Bin Lin3, Eric Karlins4, Colton McNinch4, Sara Alehashemi5, Keith Kauffman6, FARZANA BHUYAN3, Taylor Newbolt6, Andrea Bohrer7, Andre Rastegar3, Sophia Park3, Dana Kahle3, Jacob Mitchell3, Amanda Chen3, Sofia Torreggiani8, Kader Cetin Gedik9, Katsiaryna Uss2, Amer Khojah10, Eveline Wu11, Christiaan Scott12, Timothy Ronan Leahy13, Emma MacDermott14, Orla Killeen15, Thaschawee Arkachaisri16, Brian Nolan17, Zoran Gucev18, Kathryn Cook19, Vafa Mammadova20, Gulnara Nasrullayeva20, Mariana Correia Marques21, Abigail Bosk22, Seza Ozen23, Scott Canna24, Maude Tusseau25, Emilie Chopin26, Guilaine Boursier27, Veronique Hentgen28, Ines Elhani29, Mario Sestan30, Marija Jelusic31, Danielle Fink32, Douglas Kuhns32, Clifton Dalgard33, Alexandre Belot34, Timothy Moran11, Katherine Meyer-Barber7, Andrew Oler4, Daniel Barber6 and Raphaela Goldbach-Mansky35, 1NIAID, NIH, Silver Spring, MD, 2Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Bethesda, MD, 3TADS, NIAID, NIH, Bethesda, MD, 4BCBB, NIAID, NIH, Bethesda, MD, 5NIH/NIAID/TADS, Potomac, MD, 6T Lymphocyte Biology Section, LPD, NIAID, NIH, Bethesda, MD, 7Inflammation and Innate Immunity Unit, LCIM, NIAID, NIH, Bethesda, MD, 8University Of Maryland Baltimore, Baltimore, MD, 9Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Pittsburgh, PA, 10Umm Al-Qura University, Makkah, Saudi Arabia, 11University of North Carolina School of Medicine, Chapel Hill, NC, 12University of Cape Town, Cape Town, South Africa, 13Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland, 14CHI Crumlin, Dublin, Dublin, Ireland, 15Children's Health Ireland, Dublin, Ireland, 16KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, 17Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, 18University Children's Hospital, Skopje, Macedonia, 19Akron Children's Hospital, Akron, OH, 20Azerbaijan Medical University, Baku, Azerbaijan, 21National Institutes of Health, Bethesda, MD, 22Children's National Hospital, Bethesda, DC, 23Department of Pediatrics, Hacettepe University, Ankara, Turkey, 24Children's Hospital of Philadelphia, Philadelphia, PA, 25RAISE, Hospices Civils de Lyon, Lyon, France, 26Hospices Civils de Lyon, Lyon, France, 27University of Montpellier, Montpellier, 28Laboratoire 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, 29Department of Internal Medicine, Caen University Hospital, Caen, France, Caen, France, 30University of Zagreb School of Medicine University Hospital Centre Zagreb, Zagreb, Croatia, 31University of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Zagreb, Croatia, 32Collaborative Clinical Research Branch, NIAID, NIH, Bethesda, MD, Bethesda, MD, 33The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, 34Hospices Civils de Lyon, Collonges au mont d'or, France, 35Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Potomac, MD

    Background/Purpose: Splice-site variants in X-linked IKBKG cause NEMO-deleted exon5 autoinflammatory syndrome (NEMO-NDAS); a pseudogene (IKBKGP1) complicates genetic diagnosis. NEMO-NDAS is four times more common in…
  • Abstract Number: 2420 • ACR Convergence 2024

    Blood Transcriptome Analysis Reveals Enhanced B Cell and Complement Cascade Signatures in Patients with Major Neuropsychiatric Systemic Lupus Erythematosus

    Dionysis Nikolopoulos1, George Sentis2, Jason Kitsos2, Panagiotis Garantziotis3, Noemin Kapsala2, antigoni Pieta2, Myrto Nikoloudaki4, Theodora Manolakou5, Sofia Flouda2, Ioannis Parodis6, Anastasia Filia2, George Bertsias7, Antonis Fanouriakis2 and Dimitrios Boumpas8, 1Karolinska Institutet and Karolinska University Hospital, Division of Rheumatology, Department of Medicine Solna, Stockholm, Sweden, 2National and Kapodistrian University of Athens, Athens, Greece, 3Department of Internal Medicine 3-Rheumatology and Immunology, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany, Erlangen, Germany, 4Rheumatology and Clinical Immunology, University of Crete School of Medicine, Heraklion, Greece, Heraklion, Greece, 5Karolinska Institutet, Stockholm, Sweden, 6Karolinska Institutet, Karolinska University Hospital; Örebro University, Solna, Sweden, 7Laboratory of Rheumatology, Autoimmunity and Inflammation. University Hospital, Rheumatology, Clinical Immunology, Heraklion, Greece, 84th Department of Internal Medicine, "Attikon" University Hospital, Athens, Greece, Athens, Greece

    Background/Purpose: The molecular basis of neuropsychiatric systemic lupus erythematosus (NPSLE) remains elusive because of clinical heterogenicity, the complexity of pathophysiologic mechanisms involved and limited access…
  • Abstract Number: 0784 • ACR Convergence 2024

    RUNX1 Is Expressed in a Subpopulation of Dermal Fibroblasts and Is Increased with Systemic Sclerosis Disease Severity

    Rezvan Parvizi1, Zhiyun Gong2, Helen Jarnagin2, Tamar Abel2, Dillon Popovich3, Madeline Morrisson4, Tammara Wood5, Sasha Shenk6, Monique Hinchcliff7, jonathan Garlick6, Patricia Pioli8 and Michael Whitfield1, 1Geisel School of Medicine at Dartmouth, Hanover, NH, 2Dartmouth College, Lebanon, NH, 3Dartmouth College, West Lebanon, NH, 4Geisel School of Medicine at Dartmouth College, Hanover, NH, 5Dartmouth, Hanover, NH, 6Tufts University, Boston, MA, 7Yale School of Medicine, Westport, CT, 8Geisel School of Medicine at Dartmouth, Lebanon, NH

    Background/Purpose: Systemic Sclerosis (SSc) skin fibrosis results in complex changes in transcriptional and signaling pathways in the skin. Through transcription factor activity network analyses, the…
  • Abstract Number: 1808 • ACR Convergence 2024

    Not Only Type-I Interferon Regulated Genes Are Differentially Expressed in Circulating Monocytes from Active Lupus Nephritis Patients

    Paula Losada Vanegas1, Juan Antonio Villatoro-García2, Daniel Rodriguez3, Juan Camilo Diaz3, Ricardo Pineda4, Pedro Carmona-Saez5, Mauricio Rojas6 and Gloria Vasquez7, 1Universidad de Antioquia, Medellin, Antioquia, Colombia, 2GENYO (Centre for Genomics and Oncological Research: Pfizer, University of Granada, Granada, Andalucia, Spain, 3ARTMEDICA, Medellín, Antioquia, Colombia, 4ARTMEDICA, Medellin, Antioquia, Colombia, 5GENYO (Centre for Genomics and Oncological Research: Pfizer, University of Granada, Granada, Asturias, Spain, 6Grupo de Inmunología Celular e Inmunogenética, Sede de Investigación Universitaria. Facultad de Medicina. Universidad de Antioquia, Medellin, Antioquia, Colombia, 7Grupo de Inmunología Celular e Inmunogenética, Sede de Investigación Universitaria. Facultad de Medicina.Universidad de Antioquia, Medellin, Colombia

    Background/Purpose: Monocytes play an important role in organ damage, such as in Lupus Nephritis (LN). Although monocytes are typically considered inflammatory cells, evidence shows they…
  • Abstract Number: 2430 • ACR Convergence 2024

    Dapirolizumab Pegol Impacts Important Immunologic Pathways in Systemic Lupus Erythematosus: Pharmacodynamic Analysis of T Cell and Antigen Presenting Cell Pathways from a Phase 2b Trial

    Alex S. Powlesland1, Ioana Cutcutache1, Andrew Skelton1, Anthony Shock1, Matthew Page1, Eris Bame2, Janine Gaiha-Rohrbach2, George Stojan3, Ania Skowera1, Christian Stach4 and Thomas Dörner5, 1UCB Pharma, Slough, United Kingdom, 2Biogen Inc., Cambridge, MA, 3UCB Pharma, Atlanta, GA, 4UCB Pharma, Monheim am Rheim, Germany, 5Department of Medicine, Rheumatology and Clinical Immunology,Charite Universitätsmedizin Berlin, Germany and DRFZ, Berlin, Berlin, Germany

    Background/Purpose: CD40-CD40L interactions play a pivotal role in systemic lupus erythematosus (SLE) pathogenesis by orchestrating a range of immune and inflammatory responses involving B cells,…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. Academic institutions, private organizations and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying financial and other sponsors about this policy. If you have questions about the abstract embargo policy, please contact the public relations department at [email protected].

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