Abstracts tagged "Gene Expression"

Abstract Number: 0519 • ACR Convergence 2022
Myeloablation Followed by Hematopoietic Stem Cell Transplantation Leads to Long-term Normalization of Systemic Sclerosis Molecular Signatures
Nancy Wareing¹, Xuan Wang², Lynette Keyes-Elstein³, Ellen Goldmuntz⁴, Marka Lyons⁵, Peter McSweeney⁶, Daniel Furst⁷, Richard Nash⁶, Leslie Crofford⁸, Beverly Welch⁹, Ashley Pinckney¹⁰, Maureen Mayes¹¹, Keith Sullivan¹² and Shervin Assassi¹³, ¹UTHealth Houston McGovern Medical School, Houston, TX, ²Baylor Institute for Immunology Research, Dallas, TX, ³Rho, Chapel Hill, NC, ⁴NIAID/ NIH, Washington, DC, ⁵University of Texas McGovern Medical School at Houston, Houston, TX, ⁶Colorado Blood Cancer Institute, Denver, CO, ⁷University of California Los Angeles, Los Angeles, CA, ⁸Vanderbilt University Medical Center, Nashville, TN, ⁹NIAID/NIH, Bethesda, MD, ¹⁰Rho, St. Louis Park, MN, ¹¹Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, ¹²Duke University, Durham, NC, ¹³McGovern Medical School, University of Texas, Houston, TX
Background/Purpose: In the randomized Scleroderma: Cyclophosphamide Or Transplantation (SCOT trial), normalization of systemic sclerosis (SSc) peripheral blood gene expression signatures at the 26-month visit was…
Abstract Number: 0935 • ACR Convergence 2022
Targeted Synovial Tissue RNA-Seq Coupled with Artificial Intelligence Accurately Predicts Early Rheumatoid Arthritis Patients Likely to Respond to CsDMARDs, Enriching CsDMARDs Response Rates and Enabling Early Identification of Patients Requiring Subsequent Biological Therapy
Giorgio CASABURI, Tyler O'Malley, Todd Holscher and Ming-Chou Lee, Exagen, Inc., Vista, CA
Background/Purpose: Rheumatoid arthritis (RA) is a chronic, inflammatory, systemic autoimmune disease, affecting the joints with varying severity. RA affects approximately 0.5/1% of adults in the…
Abstract Number: 1716 • ACR Convergence 2022
The Transcriptomic Landscape of Nephritic Kidneys Reveals Mechanisms for End Organ Resistance to Damage in Lupus-prone Mice
Andrea Daamen¹, Hongyang Wang², Prathyusha Bachali³, Shu Man Fu², Amrie Grammer⁴ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²University of Virginia, Charlottesville, VA, ³AMPEL BioSolutions, Redmond, WA, ⁴AMPEL LLC, Charlottesville, VA
Background/Purpose: Pathologic inflammation is a major driver of kidney damage in lupus nephritis (LN), but the immune mechanisms of disease progression and risk factors for…
Abstract Number: 0528 • ACR Convergence 2022
Nasal Epithelial Gene Expression Profiling Preceding Relapse in Patients with Granulomatosis with Polyangiitis
Fang R. Zhao¹, Rebecca Deek², James Garifallou³, Jalal Jalaly², Cailu Lin⁴, Danielle Reed⁴, Shubhasree Banerjee², Naomi Amudala², Antoine Sreih⁵, Sherry Chou², Virginia Livolsi², Ronald Collman², Hongzhe Lee², Peter Merkel², Peter Grayson⁶, Noam Cohen², Jonathan Miner² and Rennie Rhee², ¹Washington University in St. Louis, St. Louis, MO, ²University of Pennsylvania, Philadelphia, PA, ³Children's Hospital of Philadelphia, Philadelphia, PA, ⁴Monell Center, Philadelphia, PA, ⁵Bristol Myers Squibb, Philadelphia, PA, ⁶National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Predicting relapse is a major challenge in granulomatosis with polyangiitis (GPA). We previously demonstrated changes in the nasal microbiota, particularly Corynebacterium tuberculostearicum, prior to…
Abstract Number: 0984 • ACR Convergence 2022
Impact of Hydroxychloroquine on Interferon Pathway Expression of SLE Phenotypic Subsets in the Absence of Background Medications
Colin Mowery, Miles Smith, Kevin Thomas, Susan Macwana, Wade deJager, Stan Kamp, Cristina Arriens, Teresa Aberle, Judith James, Joel Guthridge and Joan Merrill, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Chronic activation of interferon (IFN) pathways is a key driver of immune dysregulation in SLE. Hydroxychloroquine (HCQ) inhibits toll-like receptors 7 and 9 in…
Abstract Number: 1736 • ACR Convergence 2022
IL-23 Signaling Induces Autoimmune Disease Genes in Mucosal-Associated Invariant T Cells
Tharshana Stephen¹, Ambre Dangien¹, Claire Leloup¹, Ikram Mezghiche¹, Laetitia Camard¹, Hanan Yahia-Cherbal¹, Vincent Guillemot², Natalia Pietrosemoli¹, Hélène Lopez-Maestre¹, Julie Marsande¹, Milena Hasan¹, Dan Cua³, Anne Fourie⁴, Carrie Greving⁵, Raphaelle Parker⁶, Barbara Joyce Shaikh⁷, Bénédicte Oulès⁸, Sarah Guégan⁸, Sélim Aractingi⁸, Elisabetta Bianchi¹ and Lars Rogge¹, ¹Institut Pasteur, Paris, France, ²Institut Pasteur, Paris, Ile-de-France, France, ³Janssen Research and Development, LLC, Spring House, PA, ⁴Janssen Research & Development, LLC, San Diego, CA, USA, San Diego, CA, ⁵Janssen Research & Development, LLC, San Diego, CA, USA, San Diego, ⁶Janssen Research & Development, Janssen-Cilag, Paris, France, ⁷Janssen Research & Development, LLC, San Diego, CA, ⁸Hôpital Cochin, AP-HP, Paris, France
Background/Purpose: Genome-wide association studies and mouse models of autoimmune disease have demonstrated an important role of the IL-23 signaling pathway in the pathogenesis of axial…
Abstract Number: 0547 • ACR Convergence 2022
Profiling of Systemic Immune Responses in Axial Spondyloarthritis Patients Reveals Strikingly Distinct Cellular and Molecular Mechanisms of Action of IL-17A Inhibitors and TNF-Blockers
Nicolas Rosine¹, Surya Koturan¹, Vincent Guillemot², Claire Leloup¹, Fanni Veress¹, Tharshana Stephen¹, Hanan Yahia-Cherbal¹, Jérémie SELLAM³, Francis Berenbaum⁴, Natalia Pietrosemoli¹, Elisabetta Bianchi¹, Corinne MIceli⁵ and Lars Rogge¹, ¹Institut Pasteur, Paris, France, ²Institut Pasteur, Paris, Ile-de-France, France, ³Sorbonne Universite, AP-HP, Saint-Antoine hospital, Paris, France, ⁴Sorbonne University - Saint-Antoine hospital, Paris, France, ⁵APHP, Paris, France
Background/Purpose: IL-17A inhibitors (IL-17i) and TNF-inhibitors (TNFi) are currently the only biologic drugs available to treat axial spondyloarthritis (axSpA). While several studies have provided mechanistic…
Abstract Number: 1120 • ACR Convergence 2022
Transcriptome-Wide Association Study of Sjögren’s Disease Risk Alleles Identifies Novel Genes with Altered Expression in Minor Salivary Gland and Other Tissues
Marcin Radziszewski¹, Mandi Wiley¹, Bhuwan Khatri¹, Kandice Tessneer¹, Astrid Rasmussen¹, Professor Simon Bowman², Lida Radfar³, Roald Omdal⁴, Marie Wahren-Herlenius⁵, Blake Warner⁶, Torsten Witte⁷, Roland Jonsson⁸, Maureen Rischmueller⁹, Patrick Gaffney¹, Judith James¹, Lars Ronnblom¹⁰, R. Hal Scofield³, Xavier Mariette¹¹, Marta Alarcon-Riquelme¹², Fai Ng¹³, Gunnel Nordmark¹⁰, Umesh Deshmukh¹, A. Darise Farris¹ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University Hospitals Birmingham, Birmingham, United Kingdom, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴Stavanger University, Stavanger, Norway, ⁵Karolinska Institutet, Stockholm, Sweden, ⁶National Institutes of Health, Bethesda, MD, ⁷MH-Hannover, Hannover, Germany, ⁸University of Bergen, Bergen, Norway, ⁹RheumatologySA, Adelaide, Australia, ¹⁰Uppsala University, Uppsala, Sweden, ¹¹Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ¹²Center for Genomics and Oncological Research (GENYO), Granada, Spain, ¹³Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom
Background/Purpose: Sjögren's disease (SjD) is an autoimmune disease characterized by reduced function of exocrine glands, but also has systemic manifestations affecting multiple organs, including abnormal…
Abstract Number: 1738 • ACR Convergence 2022
Characterization of T Cell Subsets in the Synovium of Chronic Inflammatory Joint Diseases
Alexandra Khmelevskaya¹, Miranda Houtman², Kristina Buerki³, Chantal Pauli⁴, Sam Edalat³, Mojca Frank-Bertoncelj³, Oliver Distler⁵, Adrian Ciurea⁶, Caroline Ospelt⁷ and Raphael Micheroli⁸, ¹Center of Experimental Rheumatology, University Hospital of Zurich, Zürich, Switzerland, ²University of Zurich, Schlieren, Switzerland, ³Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, Zürich, Switzerland, ⁴Department of Pathology, University Hospital Zurich, Zürich, Switzerland, ⁵Department of Rheumatology, University Hospital Zurich, University of Zurich, Zürich, Switzerland, ⁶University Hospital Zurich, Zürich, Switzerland, ⁷Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zürich, Switzerland, ⁸University Hospital Zurich, Department of Rheumatology, Zürich, Switzerland
Background/Purpose: Rheumatoid arthritis (RA), psoriatic arthritis (PsA), peripheral spondyloarthritis (pSpA), and undifferentiated arthritis (UA) are chronic immune-mediated conditions characterized by joint inflammation. The specific role…
Abstract Number: 0588 • ACR Convergence 2022
S-nitrosoglutathione Reductase (GSNOR) Regulates Osteoclast Differentiation
Toshihiro Tanioka¹, Kohei Maeda¹, Rei Takahashi¹ and Takeo Isozaki², ¹Division of Pathogenesis and Translational Medicine, Department of Clinical Pharmacy, Showa University School of Pharmacy, Tokyo, Japan, ²Division of Rheumatology, Department of Medicine, Showa University School of Medicine, Tokyo, Japan
Background/Purpose: S-nitrosoglutathione (GSNO) reductase (GSNOR) is an enzyme which decomposes GSNO and downregulates protein S-nitrosylation. It has been reported that GSNOR KO mice have enhanced…
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: 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: 0594 • ACR Convergence 2022
Identification of Peptidylglycine Alpha-Amidating Monooxygenase as a Regulator of Tissue Damage Mediated by Rheumatoid Arthritis Synovial Fibroblasts
Kevin Sheridan¹, Emma Dorris¹, Christopher Buckley² and Anthony Wilson¹, ¹University College Dublin, Dublin, Ireland, ²University of Oxford, Oxford, United Kingdom
Background/Purpose: The minor C allele variant of rs26232 SNP, located within the first intron of the Macrophage Immunometabolism regulator (MACIR) gene, is associated with both…
Abstract Number: 1136 • ACR Convergence 2022
Stratification of Systemic Lupus Erythematosus (SLE) Patients Based on the Molecular Patterns of Mouse Models
Maria Rivas Torrubia, Maria Morell, Marta Alarcon-Riquelme and Guillermo Barturen, Center for Genomics and Oncological Research (GENYO), Granada, Spain
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune, chronic and multisystemic autoimmune disorder, which typically affects women and presents high severity and mortality. It is…
Abstract Number: 1931 • ACR Convergence 2022
NOD2 Mutations Are Associated with Upregulated Type 1 Interferon Gene Expression and Development of Granulomatous Hepatitis in Children with Autoimmune Hepatitis
Esraa Eloseily¹, Alexander Valencia², Astha Malik², Rebekah Karns², Cyd Castro Rojas², Mosab Alquraish², Rebecca Marsh³, Alexei Grom⁴ and Alexander Miethke², ¹Division of Pediatric Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Division of Gastroenterology, Hepatology & Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Division of Bone Marrow Transplantation & Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
Background/Purpose: Mutations in the gene NOD2 encoding the nucleotide-binding oligomerization domain-containing protein 2 (NOD2) which controls innate responses to LPS have been linked to Blau…

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