Abstracts tagged "Gene Expression"

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,…
Abstract Number: 0872 • ACR Convergence 2024
Investigating the Natural Improvement of Rheumatoid Arthritis During Pregnancy
Matthew Wright¹, Dana Goin², Mette Kiel Smed³, Nicholas Jewell⁴, J Lee Nelson⁵, Merete Hetland⁶ and Damini Jawaheer⁷, ¹Children's Hospital Oakland Research Institute/Northwestern University, Chicago, ²UCSF, San Francisco, CA, ³Juliane Marie Centret, Copenhagen, Denmark, ⁴UC Berkeley, Berkeley, CA, ⁵University of Washington and Fred Hutchinson Cancer Center, Seattle, WA, ⁶Rigshospitalet Glostrup and University of Copenhagen, Glostrup, Denmark, ⁷Children's Hospital Oakland Research Institute/Northwestern University, Chicago, IL
Background/Purpose: Pregnancy can induce a natural improvement of rheumatoid arthritis (RA) in 50-75% of women with the disease, while others may worsen or remain unchanged.…
Abstract Number: 1810 • ACR Convergence 2024
Modulation of Type I Interferon Signaling by Anifrolumab Alters the Spatial Immune Landscape in Cutaneous Lupus Erythematosus
Ksenia Anufrieva¹, Rochelle Castillo², Ce Gao², Jessica Liu², Neda Shahriari², Kimberly Hashemi², Dustin Taylor³, Rachael Rowley², Elizabeth Rainone², Avery LaChance², Rachel Gate⁴, ilya Korsunsky², Ruth Ann Vleugels⁵ and Kevin Wei⁶, ¹BWH, Cambridge, MA, ²Brigham and Women's Hospital, Boston, MA, ³Vanderbilt University Medical Center, Nashville, TN, ⁴10x Genomics, Pleasanton, CA, ⁵Brigham and Women's Hospital, Brookline, MA, ⁶Brigham and Women's Hospital at Harvard Medical School, Boston, MA
Background/Purpose: Reliable and effective treatments for refractory cutaneous lupus erythematosus (CLE) remained elusive until the arrival of anifrolumab, a monoclonal antibody targeting the type I…
Abstract Number: 2537 • ACR Convergence 2024
Sjögren’s Disease and Non-Sjögren’s Sicca Patient Subsets Exhibit Cell Type-specific Transcriptional Dysregulations That May Identify Early Molecular Predictors of Disease Transition
James Li¹, Chuang Li², Bhuwan Khatri², Anna Stolarczyk², Kandice Tessneer², Astrid Rasmussen², Joel Guthridge², Judith James², Robert Hal Scofield², He Li³, A. Darise Farris², Kathy Sivils⁴ and Christopher Lessard², ¹University of Oklahoma Health Sciences Center, Oklahoma City, OK, ²Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Janssen Research & Development, LLC, Therapeutics Discovery, Spring House, PA, ⁴Johnson & Johnson Innovative Medicine, Edmond, OK
Background/Purpose: Sjögren's disease (SjD) is an autoimmune disorder characterized by inflammatory destruction of the exocrine glands. SjD heterogeneity has been described through the presence or…

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