ACR Meeting Abstracts

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Abstracts tagged "genomics"

  • Abstract Number: 1699 • ACR Convergence 2022

    Arthritis-associated Synovial CD64-Ly6c- myeloid Cells Comprise 2 Subpopulations

    Yidan Wang1, Miranda Gurra1, Carla Cuda1, Hadijat Makinde1, Shangyang Chen1, Gaurav Gadhvi1, Salina Dominguez1, Caroline Shah1, Deborah Winter2 and Harris Perlman1, 1Northwestern University, Chicago, IL, 2Northwestern University, Skokie, IL

    Background/Purpose: Monocytes are critical for the pathogenesis of rheumatoid arthritis (RA). However, depletion of circulating monocytes – either classical or non-classical monocytes – is not…
  • Abstract Number: 0867 • ACR Convergence 2022

    Regulatory Haplotype of CXCR4 Is Associated with sJIA and Corelates with Enhanced Neutrophil and CD14+ Monocyte Migration

    Hiroto Nakano1, Emily Shuldiner2, Anne Hinks3, Marc Sudman4, Elaine Remmers5, Colleen Satorius6, Elizabeth Schmitz1, Victoria Arthur7, Patricia Woo8, Alexei Grom9, Dirk Foell10, John Bohnsack11, Marco Gattorno12, Seza Ozen13, Sampath Prahalad14, Rae Yeung15, Elizabeth Mellins2, Sheila Oliveira16, Jordi Antón17, Claudio Len18, Carol Lake19, Ly-Lan Bergeron20, Michelle Millwood21, Estefania de los santos21, Mariana Correia Marques22, Juvenile Arthritis Consortium for the Immunochip23, The Genomic Ascertainment Cohort Investigators24, INCHARGE Consortium25, Carl Langefeld26, Susan Thompson27, Wendy Thomson28 and Michael Ombrello1, 1National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, 2Stanford University, Stanford, CA, 3The University of Manchester, Manchester, United Kingdom, 4Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 5National Human Genome Research Institute, Bethesda, MD, 6NHGRI, NIH, Bethesda, MD, 7Boston Children's Hospital, Boston, MA, 8University College London, London, United Kingdom, 9Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 10University Hospital Münster, Münster, Germany, 11University of Utah, Salt Lake City, UT, 12Pediatric Clinic and Rheumatology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, 13Hacettepe University Faculty of Medicine, Ankara, Turkey, 14Emory + Children's Pediatric Institute, Atlanta, GA, 15The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, 16Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, 17Pediatric Rheumatology Department. Hospital Sant Joan de Déu. Universitat de Barcelona, Esplugues de Llobregat, Spain, 18Universidade Federal de São Paulo, São Paulo, Brazil, 19NIH, Gaithersburg, MD, 20NIH/NIAMS, Vienna, VA, 21NIAMS, NIH, Bethesda, MD, 22National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD, 23Juvenile Arthritis Consortium for the Immunochip, Bethesda, MD, 24The Genomic Ascertainment Cohort Investigators, Bethesda, MD, 25International Childhood Arthritis Genetics Consortium, Bethesda, MD, 26Wake Forest School of Medicine, Winston Salem, NC, 27Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Blue Ash, OH, 28Manchester Academic Health Science Centre, Manchester, United Kingdom

    Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a rare inflammatory disease that causes spiking fever, skin rash, chronic arthritis, and inflammation of the heart and…
  • Abstract Number: 1727 • ACR Convergence 2022

    BATF Represses BIM Expression to Sustain the T Cell Anergy Program

    Philip Titcombe, Milagros Silva-Morales, Na Zhang and Daniel Mueller, University of Minnesota, Minneapolis, MN

    Background/Purpose: T cell tolerance is essential for preventing autoimmune diseases and resolving inflammation. To maintain tolerance, CD4+ T cells recognizing self-antigens in the periphery can…
  • Abstract Number: 1927 • ACR Convergence 2021

    Heterogeneity of Juvenile Idiopathic Arthritis Synovial Fibroblasts Correlates to Disease Progression and Provides Compelling Diagnostic Data

    Megan Simonds1, Kathleen Sullivan2, Carlos Rose3 and AnneMarie Brescia4, 1Nemours, Wilmington, DE, 2The Children's Hospital of Philadelphia, Philadelphia, PA, 3Thomas Jefferson University/duPont Hospital for Children, Wilmington, DE, 4Nemours/A.I.duPont Hospital for Children, Wilmington, DE

    Background/Purpose: Juvenile Idiopathic Arthritis (JIA) induces growth disturbances in affected joints. Fibroblast-like synoviocytes (FLS) play a crucial role in JIA pathogenesis; however, the mechanisms by…
  • Abstract Number: 1930 • ACR Convergence 2021

    Single-Cell Genomics Reveals a Shared Monocyte Interferon Program in a Subset of Patients with Systemic Juvenile Idiopathic Arthritis, Macrophage Activation Syndrome and Lung Disease

    Emely Verweyen1, Kairavee Thakkar2, Kashish Chetal2, Sanjeev Dhakal3, Alexei Grom2, Nathan Salomonis2 and Grant Schulert2, 1Cincinnati Children's Hospital, Cincinnati, OH, 2Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 3Cincinnati Children hospital, Cincinnati, OH

    Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) is a clinically heterogenous disease and can be complicated by macrophage activation syndrome (MAS) and lung disease (LD) thought…
  • Abstract Number: 1935 • ACR Convergence 2021

    Skewed Escape from X-inactivation: Insights into the Female Bias of Sjögren’s Syndrome

    Teressa Shaw1, Wei Zhang2, Sara McCoy3, Xueer Qiu1, Adam Pagenkopf1, Robert Hal Scofield4, Jacques Galipeau3 and Yun Liang1, 1University of Wisconsin-Madison, Madison, WI, 2University of California San Diego, La Jolla, CA, 3University of Wisconsin, Madison, WI, 4Oklahoma Medical Research Foundation, Oklahoma City, OK

    Background/Purpose: Many autoimmune diseases feature increased prevalence in females, with primary Sjögren's syndrome (pSS) being the most female-predominant autoimmune disease with a female-to-male ratio of…
  • Abstract Number: 1938 • ACR Convergence 2021

    A Phenome-Wide Association Study of Genes Associated with COVID-19 Severity Reveals Shared Genetics with Rheumatic Conditions

    Anurag Verma1, Noah Tsao1, Lauren Thomann2, Yuk-Lam Ho2, Rotonya Carr1, Dana crawford3, Jimmy efird4, Jennifer Huffman2, Adriana Hung5, Kerry Ivey2, Sudha Iyengar3, Michael Levin6, Shiuh-Wen luoh7, Julie Lynch8, Pradeep Natarajan9, Saiju Pyarajan10, alexander Bick11, Lauren Costa2, Giulio Genovese12, Richard Hauger13, Ravi madduri14, Gita Pathak15, Renato polimanti15, Benjamin Voight1, Marijana Vujkovic1, Maryam Zekavat15, Hongyu Zhao15, Marylyn Ritchie1, Kyong-Mi Chang16, Kelly Cho2, Juan casas2, Phil Tsao17, J. Michael Gaziano2, Christopher ODonnell2, Scott Damrauer1 and Katherine Liao18, 1University of Pennsylvania, Philadelphia, PA, 2VA Boston Healthcare System, Boston, MA, 3Case Western Reserve University, Cleveland, OH, 4DVAHCS, Durham, 5Vanderbilt University Medical Center, Nashville, TN, 6University of Pennsylvania, Philadelphia, 7Oregon Health & Science University, Portland, 8VA Informatics and Computing Infrastructure, VA Salt Lake City Health Care System, Salt Lake City, UT, 9Massachusetts General Hospital, Boston, MA, 10Partners, Boston, 11Vanderbilt University, Nashville, TN, 12Harvard Medical School, Boston, MA, 13University of California San Diego, San Diego, CA, 14Argon National Lab, Chicago, IL, 15Yale University, New Haven, CT, 16VA Philadelphia, Philadelphia, PA, 17VA Palo Alto, Palo Alto, CA, 18Brigham and Women's Hospital, Boston, MA

    Background/Purpose: Severe coronavirus disease 2019 (COVID-19) is associated with a broad range of clinical conditions. International efforts have led to the identification of risk alleles…
  • Abstract Number: 0008 • ACR Convergence 2021

    Jo-1-Binding and Clonally-Expanded Memory B Cells Express Germline and Somatically-Mutated B Cell Receptors in Anti-tRNA Synthetase Syndrome Patients

    Erin Wilfong, Alberto Cisneros, Jennifer Young-Glazer, Scott Smith, Leslie Crofford and Rachel Bonami, Vanderbilt University Medical Center, Nashville, TN

    Background/Purpose: Anti-tRNA synthetase syndrome (ARS) is a severe systemic autoimmune disease associated with myositis, interstitial lung disease, rash, and arthritis. ARS is associated with autoantibodies…
  • Abstract Number: 0472 • ACR Convergence 2021

    An Atlas of Human and Mouse Intrarenal Immune Cells in Lupus Nephritis Reveals Homologous Immune Populations Across Common Mouse Strains and Species

    Paul Hoover1, Michael Peters2, David Lieb2, Runci Wang3, Garett Dunlap4, Deepak Rao1, Nir Hacohen2 and Anne Davidson5, 1Brigham and Women's Hospital, Boston, MA, 2Broad Institute, Cambridge, MA, 3Brigham and Women’s Hospital, Boston, MA, 4Harvard University, Somerville, MA, 5Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Manhasset, NY

    Background/Purpose: We discovered 21 immune cell-types in lupus nephritis kidney biopsies as part of the Accelerating Medicines Partnership (AMP) consortium. These immune cells are the…
  • Abstract Number: 0500 • ACR Convergence 2021

    Clinical Phenotypes of Patients with Systemic Sclerosis with Distinct Molecular Signatures in the Skin

    Monica Yang1, Vivien Goh2, Monica Espinoza3, Yiwei Yuan4, Julia Lee5, Mary Carns6, Dinesh Khanna7, Zsuzsanna McMahan8, Michael Whitfield9 and Monique Hinchcliff10, 1University of California San Francisco, San Francisco, CA, 2Northwestern University, Chicago, IL, 3Geisel School of Medicine, Hanover, NH, 4Dartmouth College, Hanover, NH, 5Northwestern University Feinberg School of Medicine, Chicago, IL, 6Northwestern University Division of Rheumatology, Chicago, IL, 7University of Michigan, Ann Arbor, MI, 8Johns Hopkins Rheumatology, Baltimore, MD, 9Geisel School of Medicine, Lebanon, NH, 10Yale School of Medicine, Westport, CT

    Background/Purpose: Although two subsets in systemic sclerosis (SSc) have been identified based on degree of skin disease, the current classification system, limited vs. diffuse cutaneous,…
  • Abstract Number: 0942 • ACR Convergence 2021

    Transcriptional Regulation of Synovial Macrophages in the Aging Joint

    Shang-Yang Chen1, Anna Montgomery1, Anna Woo1, Gaurav Gadhvi1, Harris Perlman1, Carla Cuda1, Dawn Bowdish2 and Deborah Winter3, 1Northwestern University, Chicago, IL, 2McMaster University, Hamilton, ON, Canada, 3Northwestern University Division of Rheumatology, Chicago, IL

    Background/Purpose: Macrophages are critical in maintaining tissue homeostasis, as well as in inflammation and immune response, but their function deteriorates with age increasing susceptibility to…
  • Abstract Number: 0945 • ACR Convergence 2021

    A Single-cell Atlas of Human Synovial Endothelial Cells in Inflammatory Arthritis

    Sam Edalat1, Reto Gerber2, Miranda Houtman1, Raphael Micheroli3, Kristina Buerki1, Nadja Izanc1, Blaz Burja4, Tadeja Kuret5, Snežna Sodin-Šemrl5, Adrian Ciurea3, Oliver Distler3, Caroline Ospelt1, Chantal Pauli6, Mark Robinson7 and Mojca Frank-Bertoncelj3, 1Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, 2Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich and Department of Molecular Life Sciences and SIB Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland, 3Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich/University of Zurich, Zurich, Switzerland, 4Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich and Department of Rheumatology, University Medical Centre Ljubljana, Zurich, Switzerland, 5Department of Rheumatology, University Medical Centre Ljubljana, Ljubljana, Slovenia, 6Department of Pathology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, 7Department of Molecular Life Sciences and SIB Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland

    Background/Purpose: Dysregulated endothelial cell (EC) function and altered (lympho)angiogenesis crucially contribute to synovial pathology in inflammatory arthritis. Additionally, endothelium plays a key role in the…
  • Abstract Number: 0973 • ACR Convergence 2021

    Modeling of Clinical Phenotypes in SLE Based on Platelet Transcriptomic Analysis and FCGR2a Biallelic Variants

    MacIntosh Cornwell1, Hanane EL Bannoudi2, Elliot Luttrell-Williams1, Khrystyna Myndzar1, Alexis Engel3, Peter Izmirly4, H. Michael Belmont5, Robert Clancy6, Jeffrey Berger1, Kelly Ruggles1 and Jill Buyon6, 1New York University, New York, NY, 2NYU Langone Health, New York, NY, 3NYU Langone Health, New Yok, NY, 4New York University School of Medicine, New York, NY, 5NYU School of Medicine, New York, NY, 6NYU Grossman School of Medicine, New York, NY

    Background/Purpose: The clinical heterogeneity of SLE with its complex pathogenesis remains challenging as we strive to provide optimal management. The contribution of platelets to endovascular…
  • Abstract Number: 1105 • ACR Convergence 2021

    Discovering Variants in Suspected Monogenic Systemic Inflammatory Disease: An Adult Case Series

    Jason An1, Madeline Couse1, Dilan Dissanayake2, Daniela Dominguez2, Ronald Laxer1, Christian Marshall1, Johannes Roth3, Robert Rottapel4 and Linda Hiraki2, 1SickKids, Toronto, ON, Canada, 2The Hospital for Sick Children, Toronto, ON, Canada, 3University of Ottawa, Ottawa, ON, Canada, 4St Michael's Hospital, Toronto, ON, Canada

    Background/Purpose: Monogenic systemic inflammatory diseases (MSID) are a heterogeneous group of rare conditions caused by single gene variants leading to immune dysregulation. Diagnostic yield of…
  • Abstract Number: 1384 • ACR Convergence 2021

    A Genomic Meta-Analysis of Clinical Variables and Association with Intrinsic Molecular Subsets in Systemic Sclerosis

    Jennifer Franks1, Diana Toledo1, Viktor Martyanov1, Yue Wang2, Suiyuan Huang3, Tammara Wood1, Cathie Spino3, Robyn Domsic4, Monique Hinchcliff5, Dinesh Khanna3 and Michael Whitfield6, 1Geisel School of Medicine at Dartmouth, Hanover, NH, 2Geisel School of Medicine at Dartmouth, West Lebanon, NH, 3University of Michigan, Ann Arbor, MI, 4University of Pittsburgh, Pittsburgh, PA, 5Yale School of Medicine, Westport, CT, 6Geisel School of Medicine, Lebanon, NH

    Background/Purpose: Four intrinsic molecular subsets (Inflammatory, Fibroproliferative, Limited, Normal-like) have been identified in systemic sclerosis (SSc) that may have different clinical associations. To test this…
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