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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