Abstracts tagged "genomics"

Abstract Number: 1851 • ACR Convergence 2022
Phenotype and Genotype of Adult-onset Adenosine Deaminase 2 Deficiency Patients
Beibei Zu¹, rongrong wang², Xiaorou Wang³, Bingqing Zhang⁴, Na Xu⁴, Chengjin Huang⁴, Min Shen⁵ and Xuejun Zeng⁴, ¹Department of Rheumatology, Xuzhou Central Hospital, XuZhou, China, ²Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China, ³Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, Beijing, China, ⁴Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, ⁵Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease, characterized by early‑onset vasculopathy, fever, strokes, livedoid rash, hepatosplenomegaly, and hematologic dysfunction,…
Abstract Number: 1126 • ACR Convergence 2022
Functional NOTCH4 Variants Increase Notch Signaling and Susceptibility for Systemic Sclerosis
Urvashi Kaundal¹, Emilee Stenson¹, Mousumi Sahu¹, Krishan Kumar Thakur¹, Janet Wang¹, Ami Shah², Maureen Mayes³, Ayo Doumatey⁴, Amy Bentley⁴, Daniel Shriner⁴, Robyn Domsic⁵, Thomas Medsger⁶, Paula Ramos⁷, Richard Silver⁷, Virginia Steen⁸, John Varga⁹, Vivien Hsu¹⁰, Lesley Ann Saketkoo¹¹, Elena Schiopu¹², Dinesh Khanna¹³, Jessica Gordon¹⁴, Lindsey Criswell¹⁵, Heather Gladue¹⁶, Chris Derk¹⁷, Elana Bernstein¹⁸, S. Louis Bridges, Jr.¹⁴, Victoria Shanmugam¹⁹, Lorinda Chung²⁰, Suzanne Kafaja²¹, Reem Jan²², Marcin Trojanowski²³, Avram Goldberg²⁴, Benjamin Korman²⁵, Jim Mullikin⁴, Stefania Dell'Orso¹, Adebowale Adeyemo⁴, Charles Rotimi⁴, Elaine Remmers⁴, Daniel Kastner⁴, Fredrick Wigley²⁶, Francesco Boin²⁷ and Pravitt Gourh²⁸, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²Johns Hopkins Rheumatology, Baltimore, MD, ³Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, ⁴National Human Genome Research Institute, Bethesda, MD, ⁵University of Pittsburgh, Pittsburgh, PA, ⁶University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁷Medical University of South Carolina, Charleston, SC, ⁸Georgetown University School of Medicine, Washington, DC, ⁹University of Michigan, Ann Arbor, MI, ¹⁰Rutgers-RWJ Medical School, South Plainfield, NJ, ¹¹University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, ¹²Michigan Medicine, Ann Arbor, MI, ¹³Division of Rheumatology, Department of Internal Medicine, Scleroderma Program, University of Michigan, Ann Arbor, MI, ¹⁴Hospital for Special Surgery, New York, NY, ¹⁵National Human Genome Research Institute, NIH, Bethesda, MD, ¹⁶Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ¹⁷University of Pennsylvania, Philadelphia, PA, ¹⁸Columbia University, New York, NY, ¹⁹George Washington University, Great Falls, VA, ²⁰Stanford University, Stanford, CA, ²¹UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, ²²University of Chicago, Chicago, IL, ²³Boston University School of Medicine, Boston, MA, ²⁴NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, ²⁵University of Rochester, Rochester, NY, ²⁶Johns Hopkins University, Baltimore, MD, ²⁷Cedars-Sinai Medical Center, Los Angeles, CA, ²⁸National Institutes of Health, Bethesda, MD
Background/Purpose: Genome wide association studies (GWAS) in systemic sclerosis (SSc) have identified several genetic loci, but the search for the causal variant and gene continues.…
Abstract Number: 2164 • ACR Convergence 2022
Profibrotic Alveolar Macrophages as a Potential Biomarker in Systemic Sclerosis-associated Interstitial Lung Disease
Nikolay Markov¹, Karolina Senkow¹, Anthony Esposito², Jonathan Puchalski³, Mridu Gulati³, Erica Herzog³, Danielle Antin-Ozerkis⁴, Mary Carns⁵, Alyssa Williams⁶, Nic Page⁶, Alexander Misharin¹ and Monique Hinchcliff⁷, ¹Northwestern University Feinberg School of Medicine, Chicago, IL, ²Brigham and Women's Hospital, Department of Medicine, Boston, MA, ³Yale School of Medicine, New Haven, CT, ⁴Section of Pulmonary, Critical Care and Sleep Medicine, Yale University School of Medicine, New Haven, CT, ⁵Northwestern University Division of Rheumatology, Chicago, IL, ⁶Yale University, New Haven, CT, ⁷Yale School of Medicine, Westport, CT
Background/Purpose: Interstitial lung disease (ILD) is a leading cause of death in patients with systemic sclerosis (SSc). Previously, profibrotic monocyte-derived alveolar macrophages (MoAM) expressing (SPP1,…
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…
Abstract Number: 1435 • ACR Convergence 2021
Identification of Distinct Fibroblast Populations in Systemic Sclerosis 3D Skin Tissues with Single Cell Omics
Noelle Kosarek¹, Heetaek Yang², Fred W. Kolling³, Tamar Abel⁴, Mengqi Huang⁵, Avi Smith⁶, Jonathan Garlick⁶, Patricia A. Pioli² and Michael L. Whitfield⁷, ¹Dartmouth Geisel School of Medicine, Hartford, VT, ²Geisel School of Medicine, Hanover, NH, ³Centers for Quantitative Biology, Hanover, ⁴Geisel School of Medicine, West Lebanon, NH, ⁵University of Pittsburgh, Pittsburgh, PA, ⁶Tufts University School of Dental Medicine, Boston, MA, ⁷Geisel School of Medicine, Lebanon, NH
Background/Purpose: Systemic sclerosis (SSc) is a rare autoimmune disease characterized by skin and internal organ fibrosis, vascular abnormalities, and autoantibody formation. Single cell genomics studies…
Abstract Number: 1512 • ACR Convergence 2021
Epigenetic and Transcriptional Programs of CD4+ T Cell Anergy
Philip Titcombe, Milagros Silva Morales 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…

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