Abstracts tagged "genomics"

Abstract Number: 1712 • ACR Convergence 2023
Identification and Functional Characterization of Eight CANDLE/PRAAS Causing Proteasome Variants in Five Unrelated Patients
Adriana Almeida de Jesus¹, Jonas J. Papendorf², Frederic Ebstein³, Sara Alehashemi⁴, Daniela Pioto⁵, Anna Kozlova⁶, Maria Teresa TErreri⁷, Anna Shcherbina⁶, Andre Rastegar⁸, Marta Rodrigues⁹, Renan Pereira¹⁰, Sophia Park¹¹, Bin Lin¹², Kat Uss¹¹, Ana Flavia da Silva Pina⁵, FLAVIO SZTAJNBOK¹³, Sofia Torreggiani¹⁴, Jennifer Stoddard¹⁵, Julie Niemela¹⁵, Sergio Rosenzweig¹⁵, Adriana Fonseca¹⁶, Marietta De Guzman¹⁷, Nicole Micheloni⁵, Melissa Fraga⁵, Sandro Perazzio¹⁸, Raphaela Goldbach-Mansky¹⁹ and Elke Krueger², ¹NIAID, NIH, Bethesda, MD, ²Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany, ³Nantes Université, Nantes, France, ⁴NIH/NIAID/TADS, Clarksville, MD, ⁵Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil, ⁶Center for Pediatric Hematology, Oncology, Immunology, Moscow, Russia, ⁷UNIFESP, São Paulo, Brazil, ⁸NIH, Bethesda, MD, ⁹Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil, ¹⁰Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil, ¹¹Translational Autoinflammatory Diseases Section, LCIM, NIAID, NIH, Bethesda, MD, ¹²Translational Autoinflammatory Diseases Section l LCIM, NIAID, NIH, Bethesda, MD, ¹³UFRJ/UERJ, São Paulo, Brazil, ¹⁴University of Maryland Baltimore, Baltimore, MD, ¹⁵Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, ¹⁶Instituto de Puericultura e Pediatria Martagao Gesteira / Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹⁷Baylor College of Medicine, Houston, TX, ¹⁸Universidade de Sao Paulo (Unifesp); Universidade de São Paulo (USP); Fleury Laboratories, São Paulo, Brazil, ¹⁹NIH/NIAID, Potomac, MD
Background/Purpose: Mutations in genes coding for 20S proteasome subunits or proteasome assembly helpers cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or…
Abstract Number: 0278 • ACR Convergence 2023
NOD2 Genotyping Landscape in Yao Syndrome
Hafsa Nomani¹, Ashmia Saif², Frank Hwang¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Stony Brook University Hospital, Syosset, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. This study…
Abstract Number: 1722 • ACR Convergence 2023
Fate-mapping of Synovial Monocytes and Macrophages
Yidan Wang¹, Carla Cuda¹, Deborah Winter² and Harris Perlman¹, ¹Northwestern University, Chicago, IL, ²Northwestern University, Skokie, IL
Background/Purpose: Synovial monocytes and macrophages are heterogenous populations. These populations play diverse roles in the development of arthritis in humans and mice. In recent years,…
Abstract Number: 0449 • ACR Convergence 2023
Parsing Pathophysiology of Rheumatoid Arthritis-associated Lymphoproliferative Disorders via Whole RNA Transcriptome Analysis: Multi-center Study in Japan
ATSUKO TSUJII¹, KAZUKO SAKAI², SHIRO OHSHIMA¹, YUKIHIKO SAEKI¹, MASATO YAGITA³, TOMOYA MIYAMURA⁴, Masao Katayama⁵, YASUSHI HIRAMATSU⁶, SHINJI HIGA⁷, FUMINORI HIRANO⁸, KENJI ICHIKAWA⁹, NORIYUKI CHIBA¹⁰, TAKAO SUGIYAMA¹¹, ATSUSHI IHATA¹², HIROSHI TSUTANI¹³, KOICHIRO TAKAHI¹⁴, KIYOSHI MIGITA¹⁵, SHUNSUKE MORI¹⁶, NORIE YOSHIKAWA¹⁷, ATSUHISA UEDA¹⁸, SHOUHEI NAGAOKA¹⁹, KEIGO SETOGUCHI²⁰, SHOJI SUGII²¹, ASAMI ABE²², TOSHIAKI SUGAYA²³, HIROYUKI SUGAHARA²⁴, SHINICHIRO TSUNODA²⁴, NORISHIGE IIZUKA²⁵, RYOSUKE YOSHIHARA²⁶, HIROKI YABE²⁷, TOMOAKI FUJISAKI²⁸, EIICHI MORII²⁹, KAZUYOSHI SAITO³⁰, Kiyoshi Matsui³¹, YASUHIKO TOMITA³², HIROSHI FURUKAWA³³, Shigeto Tohma³⁴, KAZUTO NISHIO² and YOSHIHIKO HOSHIDA³⁵, ¹National Hospital Organization (NHO), Osaka Minami Medical Center, Kawachinagano, Japan, ²Kindai University School of Medicine Department of Genome Biology, Sayama, Japan, ³Medical Research Institute KITANO HOSPITAL, PIIF Tazuke-kofukai, Osaka, Japan, ⁴NHO Kyushu Medical Center, Fukuoka, Japan, ⁵National Hospital Organization, Nagoya Medical Center, Nagoya, JP, Nagoya, Japan, ⁶Japanese Red Cross Society Himeji Hospital, Himeji, Japan, ⁷Daini Osaka Police Hospital, Osaka, Japan, ⁸NHO Asahikawa Medical Center, Asahikawa, Japan, ⁹Nissei hospital, Sapporo, Japan, ¹⁰NHO Morioka Medical Center, Morioka, Japan, ¹¹NHO Shimoshizu Hospital, Yotsukaido, Japan, ¹²NHO Yokohama Medical Center, Yokohama, Japan, ¹³NHO Awara Hospital, Awara, Japan, ¹⁴NHO Osaka Toneyama Medical Center, Toyonaka, Japan, ¹⁵Department of Rheumatology Fukushima Medical University School of Medicine, Fukushima, Japan, ¹⁶NHO Kumamoto Saishun Medical Center, Koshi, Japan, ¹⁷NHO Miyakonojo Medical Center, Miyakonojo, Japan, ¹⁸Yokohama City University Medical Center, Yokohama, Japan, ¹⁹Yokohama Minami Kyosai Hospital, Yokohama, Japan, ²⁰Tokyo Metropolitan Cancer and Infectious diseases Center Komagome Hospital / Tokyo Metropolitan Komagome Hospital, Tokyo, Japan, ²¹Tokyo Metropolitan Matsuzawa Hospital, Tokyo, Japan, ²²Niigata Rheumatic Center, Shibata, Japan, ²³Fuchu Hospital, Izumi, Japan, ²⁴Sumitomo Hospital, Osaka, Japan, ²⁵Kishiwada City Hospital, Kishiwada, Japan, ²⁶Hyogo Prefectural Kakogawa Hospital, Kakogawa, Japan, ²⁷Ako Central Hospital, Ako, Japan, ²⁸Matsuyama Red Cross Hospital, Matsuyama, Japan, ²⁹Osaka University, Suita, Japan, ³⁰University of Occupational and Environmental Health, Kitakyushu, Japan, ³¹Hyogo Medical University, Nishinomiya, Japan, ³²International University of Health and Welfare, Otawara City, Japan, ³³NHO Tokyo National Hospital, Kiyose, Japan, ³⁴NHO Tokyo National Hospital, Dallas, TX, ³⁵National Hospital Organization Osaka Minami Medical Center, Kawachinagano, Japan
Background/Purpose: Lymphoproliferative disorders (LPD) in rheumatoid arthritis (RA) (RA-LPD) have unique pathophysiological features. More than half of the cases of RA-LPD undergo spontaneous regression after…
Abstract Number: 1759 • ACR Convergence 2023
Runx1 Is a Key Transcription Factor That Drives Synovial Fibroblast Pathogenicity in Rheumatoid Arthritis
Christopher Mahony¹, Samuel Kemble², Paulynn Chin¹, Cesar Prada³, Annie Hackland¹, Patricia Reis-Nisa¹, Lucy-Jayne Marsh¹, Peter Keane¹, Constanze Bonifer¹, Christopher Buckley⁴, Stevephen Sansom⁵, Mark Coles⁴ and Adam Croft¹, ¹University of Birmingham, Birmingham, United Kingdom, ²University Birmingham, Rugeley, United Kingdom, ³The Kennedy Institute, Oxford, United Kingdom, ⁴University of Oxford, Oxford, United Kingdom, ⁵Kennedy Institute of Rheumatology, Oxford, United Kingdom
Background/Purpose: Fibroblasts are key effector cells in rheumatoid arthritis (RA) underpinning joint inflammation and damage. Synovial tissue fibroblasts are heterogenous and acquire pathogenic cell states…
Abstract Number: 0014 • ACR Convergence 2023
The 330 Genetic Risk Loci of Systemic Lupus Erythematosus (SLE) Now Known Are Consonant with Multiple Causal Mechanisms Involving Epstein-Barr Virus (EBV)-Encoded Transcription Co-factors (TFs) in EBV-Infected B Cells
Viktoryia Laurynenka¹, Xiaoting Chen², sreeja Parameswaran², Leah Kottyan², Matthew Weirauch², Iouri Chepelev³, Kenneth Kaufman³ and John Harley³, ¹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³US Department of Veterans Affairs Medical Center, Cincinnati, OH
Background/Purpose: Association of EBV infection with SLE, data suggesting an anti-EBNA1 molecular mimicry fostering SLE autoimmunity, and mechanisms in EBV infected B cells support a…
Abstract Number: 0600 • ACR Convergence 2023
Identification of Subsets of SLE Patients Responsive to Baricitinib by Transcriptomic Analysis at Baseline
Prathyusha Bachali¹, Amrie Grammer² and Peter Lipsky², ¹AMPEL BioSolutions, Redmond, WA, ²AMPEL BioSolutions, Charlottesville, VA
Background/Purpose: Baricitinib is an inhibitor of Jak1 approved for treatment of rheumatoid arthritis, atopic dermatitis, alopecia areata and Covid-19. A phase 2 trial showed success…
Abstract Number: 1783 • ACR Convergence 2023
Integrative Functional Genomics Points to Natural Killer Cells as Key Drivers in the Pathogenesis of Ankylosing Spondylitis
Marcos Chiñas¹, Daniela Fernandez-Salinas¹, Vitor Aguiar¹, Victor Caballero-Nieto², Micah Lefton³, Joerg Ermann⁴ and Maria Gutierrez-Arcelus¹, ¹Boston Children's Hospital, Boston, MA, ²Boston Children's Hospital, Montpellier, France, ³Brigham and Women's Hospital, Boston, MA, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Multiple lines of evidence indicate that ankylosing spondylitis (AS) is a lymphocyte-driven disease. However, which lymphocyte populations are critical in AS pathogenesis is not…
Abstract Number: 0016 • ACR Convergence 2023
Role of TP53 in Inflammatory Reprogramming of Rheumatoid Arthritis Synovial Fibroblasts
Anil Singh and Salahuddin Ahmed, Washington State university, Spokane, WA
Background/Purpose: TP53, a tumor-suppressor protein known as the guardian of the genome, plays a critical role in regulating genomic stability and cellular function. When TP53…
Abstract Number: 0733 • ACR Convergence 2023
Global Identification of Lupus Genetic Risk Variants Facilitating the Type I Interferon Pathway Through CRISPR-based Genomic Screening
Guojun Hou¹, Xinyi Zhu¹, Yutong Zhang¹, Zhaorui Cheng¹ and Nan Shen², ¹Shanghai Institute of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University (SJTUSM), Shanghai, China, ²Shanghai Jiao Tong University School of Medicine, Shanghai, China
Background/Purpose: Genome-Wide Association Studies (GWAS) have unveiled over 1000 risk variants for lupus, predominantly situated in non-coding genomic regions. Their functional roles, especially their potential…
Abstract Number: 1785 • ACR Convergence 2023
Machine Learning Models Identify Gut Microbiota That Predict Chronicity in Reactive Arthritis
Prakashini MV¹, Soumendu Mahapatra², Krushna Chandra Murmu², Rasmita Mishra², Prasanta Padhan¹, Punit Prasad², Ramnath Misra³ and Sakir Ahmed⁴, ¹Kalinga Institute of Medical Sciences, KIIT University, Bhubaneswar, India, ²Institute of Life Sciences, Bhubaneswar, India, ³Kalinga Institute of Medical Sciences, KIIT University, Lucknow, India, ⁴Kalinga Institute of Medical Sciences, Bhubaneswar, India
Background/Purpose: Reactive arthritis (ReA) is the unique infection-triggered spondyloarthritis (SpA). Undifferentiated peripheral SpA (UpSpA) is similar but without previous infection, or psoriasis or inflammatory bowel…
Abstract Number: 0017 • ACR Convergence 2023
Xist Ribonucleoproteins Promote Female Sex-biased Autoimmunity
Diana Dou¹, Yanding Zhao¹, Julia Belk¹, Yang Zhao¹, Kerriann Casey², Derek Chen¹, Rui Li¹, Bingfei Yu¹, Suhas Srinivasan¹, Brian Abe¹, Katerina Kraft¹, Ceke Hellström³, Ronald Sjöberg⁴, Sarah Chang⁵, Allan Feng⁵, Daniel Goldman⁶, Ami Shah⁷, Michelle Petri⁶, Lorinda Chung⁸, David Fiorentino⁹, Emma Lundberg¹⁰, Anton Wutz¹¹, Paul Utz⁵ and Howard Chang¹, ¹Center for Personal Dynamic Regulomes and Program in Epithelial Biology, Department of Dermatology, Stanford University School of Medicine, Stanford, CA, ²Department of Comparative Medicine, Stanford University, Stanford, CA, ³Autoimmunity and Serology Profiling, Division of Affinity Proteomics, Department of Protein Science, KTH Royal Institute of Technology, SciLifeLab, Stockholm, Sweden, ⁴Department of Protein Science, SciLifelab, KTH Royal Institute of Technology, Stockholm, Sweden, ⁵Department of Medicine, Division of Immunology and Rheumatology, Stanford University School of Medicine, Stanford, CA, ⁶Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Timonium, MD, ⁷Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Ellicott City, MD, ⁸Department of Medicine, Division of Immunology and Rheumatology, Stanford University School of Medicine, Woodside, CA, ⁹Department of Dermatology, Stanford University School of Medicine, Menlo Park, CA, ¹⁰Departments of Bioengineering and Pathology, Stanford University, Stanford, CA, ¹¹Department of Biology, Institute of Molecular Health Sciences, Swiss Federal Institute of Technology, ETH Hönggerberg, Zurich, Switzerland
Background/Purpose: Autoimmune diseases disproportionately affect females more than males. The XX sex chromosome complement is strongly associated with susceptibility to autoimmunity. Xist long noncoding RNA…
Abstract Number: 0736 • ACR Convergence 2023
Deciphering Complement System-dependent Cellular Pathways in Human Rheumatoid Arthritis Synovial Tissue Using Large Single-cell Computational Omics
Juan Vargas¹, Ian Mantel², Nirmal Banda¹, Anna Helena Jonsson³, Kevin Wei⁴, Deepak Rao³, Susan Goodman⁵, Kevin Deane¹, The Accelerating Medicines Partnership SLE/RA¹, Jennifer Anolik⁶, Michael Brenner⁴, Soumya Raychaudhuri³, Jennifer Seifert⁷, Michael Holer¹, Laura Donlin⁵ and Fan Zhang⁸, ¹University of Colorado Anschutz Medical Campus, Aurora, CO, ²Weill Cornell Medicine, New York, NY, ³Brigham and Women's Hospital, Boston, MA, ⁴Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁵Hospital for Special Surgery, New York, NY, ⁶University of Rochester Medical Center, Rochester, NY, ⁷the Accelerating Medicines Partnership (AMP) RA/SLE Network, Boston, MA, ⁸University of Colorado, Aurora, CO

Background/Purpose: The complement system is a major component of innate immunity and plays a vital role in autoimmune disease pathogenesis. In patients with rheumatoid arthritis…
Abstract Number: 1833 • ACR Convergence 2023
Development of a Polygenic Risk Model for Therapeutic Response to Bedtime Sublingual Cyclobenzaprine (TNX-102 SL*) in Fibromyalgia Based on Polygenic Single Nucleotide Polymorphism (SNP)-Count Scores
Jeffrey Rosenfeld¹, Greta Linse², Sally Slipher², Candace Flint³, Annie Iserson³, Herbert Harris⁴, Jean Engels³, Gregory Sullivan⁵ and Seth Lederman⁶, ¹Tonix Pharmaceuticals, Chatham, NJ, ²Montana State University, Bozeman, MT, ³Tonix Pharmaceuticals, New York, NY, ⁴Tonix Pharmaceuticals, Chapel Hill, NC, ⁵Tonix Pharmaceuticals Inc, Chatham, NJ, ⁶Tonix Pharmaceuticals, South Dartmouth, MA
Background/Purpose: Fibromyalgia (FM) is characterized by widespread pain, non-restorative sleep, fatigue, and cognitive dysfunction. TNX-102 SL is a sublingual cyclobenzaprine tablet designed for daily use…
Abstract Number: 0018 • ACR Convergence 2023
Alternative Splicing and Expected Protein Changes in Muscle Biopsies from Different Types of Idiopathic Inflammatory Myopathies
Rayan Najjar¹, Iago Pinal-Fernandez², Andrew Mammen³ and Tomas Mustelin¹, ¹University of Washington, Seattle, WA, ²National Institutes of Health, Bethesda, MD, ³NIH, Bethesda, MD
Background/Purpose: Alternative splicing of mRNA results in important biological impacts with increasing evidence implicating it in the pathology of autoimmune diseases. However, it is understudied…

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