Abstracts tagged "Gene Expression"

Abstract Number: 2155 • ACR Convergence 2025
A Novel TNFAIP3 Mutation Associated with Large Vessel Vasculitis: Expanding the Phenotypic Spectrum of A20 Haploinsufficiency
Sirada Panupattanapong¹, roshini Abraham², Urekha Karri³, Harry Lesmana¹ and Daniella Schwartz⁴, ¹Cleveland Clinic Foundation, Cleveland, OH, ²Nationwide Children's Hospital, Columbus, OH, ³School of public health, Pittsburgh, PA, ⁴University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Loss-of-function pathogenic variants in TNFAIP3 lead to haploinsufficiency of A20 (HA20), a complex immune dysregulation disorder that can mimic Behcet’s disease, IBD, periodic fever…
Abstract Number: 1279 • ACR Convergence 2025
Whole Blood Gene Expression Defined Subgroups of Treatment Naïve Children and Adolescents with Childhood-onset Systemic Lupus Erythematosus.
Reagan Reid¹, Huayun Hou², Isha Datar², Daniela Dominguez³, Andrea Knight⁴, Deborah Levy⁵, Lawrence Ng⁶, Zhaoyu Ding², Michael Wilson², Lauren Erdman⁷, Eleanor Pullenayegum² and Linda Hiraki⁵, ¹The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ²SickKids Research Institute, Toronto, ON, Canada, ³The Hospital for Sick Children, Toronto, Canada, ⁴Hospital for Sick Children, Toronto, ON, Canada, ⁵The Hospital for Sick Children, Toronto, ON, Canada, ⁶The Hospital for Sick Children, Toronto, Canada, Toronto, ON, Canada, ⁷University of Cincinnati, Cincinnati, OH
Background/Purpose: Childhood-onset systemic lupus erythematosus (cSLE) is a clinically and genetically heterogeneous disease. We aimed to define subgroups of new diagnosis patients based on treatment…
Abstract Number: 0069 • ACR Convergence 2025
Spatial transcriptomics in rheumatoid arthritis (RA) synovium reveals distinct region-specific fibroblast functions
Camilla R.L. Machado¹, Mina Yao¹, David Boyle², Robert J. Benschop³, James T. Parker³, Wei Wang² and Gary Firestein¹, ¹University of California, San Diego, San Diego, CA, ²University of California, San Diego, San Diego, ³Eli Lilly, San Diego
Background/Purpose: RA synovium displays cellular heterogeneity, with gene expression driving disease pathogenesis. Unbiased cell-specific transcriptomes in RA synovium have previously relied primarily on disaggregated tissues…
Abstract Number: 2010 • ACR Convergence 2025
Innate Transcriptional Response and Control of Expression of the Gout-Associated Colony Stimulating Factor-1 (CSF1) and CSF1 Receptor (CSF1R) Genes to Stimuli
Tony Merriman¹, Christopher Hall², Annie Chien², Richard Reynolds³, Jeffrey Edberg³, Pariyaphon Lertprachakwong³, Hannah Darroch⁴, Megan Leask⁴, Mumin Ozturk⁵, Brenda Kischkel⁵, Nicholas Sumpter⁵, Leo Joosten⁵ and Nils Asmann⁵, ¹University of Alabama at Birmingham, Homewood, AL, ²University of Aucklabd, Auckland, New Zealand, ³University of Alabama at Birmingham, Birmingham, AL, ⁴University of Otago, Dunedin, New Zealand, ⁵Radboud University Medical College, Nijmegen, Netherlands
Background/Purpose: CSF1 and CSF1R encode a secreted and membrane-bound cytokine and its receptor controlling differentiation of monocytes into macrophages and inflammatory activity of macrophages. There…
Abstract Number: 1004 • ACR Convergence 2025
Single-Cell Analysis Reveals Tissue Resident Memory T Cells Heterogeneity in the Joint
Yang Yang¹, Yusuke Miyashita², Madison Mangin³, Kellen Winden¹, Peter Nigrovic² and Margaret Chang¹, ¹Boston Children's Hospital, Boston, MA, ²Boston Children's Hospital, Brookline, MA, ³Boston Children's Hospital, St Simons Island, GA
Background/Purpose: Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by joint-specific memory, the phenomenon in which arthritis repeatedly flares in the same joints. We…
Abstract Number: 0047 • ACR Convergence 2025
Monocyte Transcriptomic Signatures Uncover Potential Pathogenic Mechanisms of the APOL1 High Risk Genotype (HRG)
Vishnuprabu Pandian¹, Adebola Agboola¹, Sivasubramanian ramani², Christele Felix³, Andrra Nimoni³, Jasmin Divers⁴, Timothy Niewold⁵ and Ashira Blazer², ¹University of Maryland, Baltimore, Baltimore, Maryland, ²University of Maryland Baltimore, Baltimore, Maryland, ³Hospital for Special Surgery, New York, NY, ⁴NYU Grossman Long Island School of Medicine, New York, New York, ⁵Hospital for Special Surgery, New York, New York
Background/Purpose: Compared to the low-risk genotype (LRG) the APOL1 high-risk genotype (HRG) confers an increased risk of end stage kidney disease among individuals with systemic…
Abstract Number: 1867 • ACR Convergence 2025
Deciphering the Molecular Landscape of the Small Intestine in Early and Late SSc Using High-Definition Spatial Transcriptomics
Laura Much¹, Elena Pachera², Havard Fretheim³, Knut EA Lundin⁴, Lumeng Li⁵, Astrid Hofman⁶, Pietro Bearzi⁵, Philip Stauffer¹, Michael Scharl⁷, Oyvind Molberg⁸, Oliver Distler⁹ and Anna-Maria Hoffmann-Vold³, ¹Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, ²University Hospital Zurich, Zurich, Switzerland, ³Oslo University Hospital, Oslo, Norway, ⁴Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway, ⁵Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, the LOOP Zurich, Zürich, Switzerland, ⁶Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, the LOOP Zurich, Zurich, Switzerland, ⁷Department of Gastroenterology and Hepatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, ⁸Oslo University Hospital, Oslo, Nepal, ⁹Department of Rheumatology, University Hospital Zurich, University of Zurich, Switzerland, Zurich, Switzerland
Background/Purpose: SSc frequently results in serious gastrointestinal (GI) complications that contribute to increased morbidity and mortality. Understanding the molecular changes across different disease stages is…
Abstract Number: 0967 • ACR Convergence 2025
Single-Cell RNA Sequencing Reveals a Prominent Pro-Inflammatory Gene Signature of Dermal Fibroblasts in Pre-Stages of SSc
Lumeng Li¹, Elena Pachera², Rucsandra Dobrota³, Sinziana Muraru⁴, Kristina Bürki³, Carina Mihai⁵, Muriel Elhai⁶, Laura Much⁷, Astrid Hofman³, Pietro Bearzi¹, Anna-Maria Hoffmann-Vold⁸ and Oliver Distler⁹, ¹Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, the LOOP Zurich, Zürich, Switzerland, ²University Hospital Zurich, Zurich, Switzerland, ³Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, the LOOP Zurich, Zurich, Switzerland, ⁴University of Zurich, University Hospital Zurich, Zürich, Switzerland, ⁵University Hospital Zurich, University of Zurich, Zurich, Switzerland, ⁶University Hospital zurich, Zürich, Switzerland, ⁷Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, ⁸Oslo University Hospital, Oslo, Norway, ⁹Department of Rheumatology, University Hospital Zurich, University of Zurich, Switzerland, Zurich, Switzerland
Background/Purpose: The poor prognosis of SSc patients demands an urgent need to prevent disease onset. Recently, we reported a global pro-inflammatory gene signature of dermal…
Abstract Number: 0043 • ACR Convergence 2025
Single-cell and Spatial Transcriptomic Profiling of Muscle Reveals Inflammatory Mechanisms in Anti-glycyl tRNA Synthetase Syndrome
Takuya Harada¹, Hiroyuki Yamashita¹, Ami Isoda¹, Ken Kawaue¹, Mayuko Hayashi¹, Yutaro Misawa¹, Aruto Yamamoto¹, Miyu Wakatsuki¹, Yuya Akiyama¹, Setsuko Oyama¹, Kyoko Motomura¹, Hiroyuki Takahashi¹, Akiko Mitsuo², Yuichi Goto³, Eisei Noiri³ and Hiroshi Kaneko¹, ¹Division of Rheumatic Diseases, National Center for Global Health and Medicine, Japan Institute for Health Security, Tokyo, Japan, ²Division of Clinical Laboratory Medicine, National Center for Global Health and Medicine, Japan Institute for Health Security, Tokyo, Japan, ³National Center Biobank Network, Tokyo, Japan
Background/Purpose: We characterized the spatial distribution of immune cells and identified hub genes within activated molecular networks in key immune cell populations, based on the…
Abstract Number: 1866 • ACR Convergence 2025
Elucidating gastric pathology in systemic sclerosis using single-cell RNA sequencing
kristina clark¹, Moustafa Attar², Matthias Friedrich³, Charles Murray⁴, Alexander Clarke² and Christopher Denton⁵, ¹Kennedy Institute of Rheumatology, University of Oxford, London, United Kingdom, ²Kennedy Institute of Rheumatology, University of Oxford, Oxford, United Kingdom, ³Translational Gastroenterology Unit, University of Oxford, Oxford, United Kingdom, ⁴Royal Free Hospital NHS Trust, London, United Kingdom, ⁵University College London, UK, London, United Kingdom
Background/Purpose: Gastrointestinal (GI) involvement in systemic sclerosis (SSc) affects over 90% of patients and represents a large clinical burden and unmet need. Unlike the skin…
Abstract Number: 0964 • ACR Convergence 2025
A Single-Cell Atlas Reveals Dermal Endothelial Heterogeneity and Disease-Specific Pathways in Autoimmune Disorders
Haoyu Pan¹, Jinyi Qian¹, Shuyi Yu¹, Zhixia Yang¹, Jason S. Knight², Eliza Tsou³ and Hui Shi⁴, ¹Department of Rheumatology and Immunology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China, Shanghai, Shanghai, China (People's Republic), ²University of Michigan, Ann Arbor, MI, ³Division of Rheumatology, Department of Internal Medicine, University of Michigan; Ann Arbor, Michigan, USA., Ann Arbor, MI, ⁴Shanghai Jiaotong University Affiliated Ruijin Hospital, Shanghai, China (People's Republic)
Background/Purpose: Autoimmune conditions with skin involvement, including scleroderma (SSc), antiphospholipid syndrome (APS), systemic lupus erythematosus (SLE) and psoriasis (PSO), involve intricate interactions between immune cells…
Abstract Number: 0035 • ACR Convergence 2025
Clinical and Transcriptomic Heterogeneity in Patients With RA: A Multi-Centric International Study of Anti-TNF Response
Maryna Borshchivska¹, Thibault Helleputte¹, Laurent Meric de Bellefon², Silvana di Romana³, Elsa Vieira-Sousa⁴, Vasco Romão⁴, João Eurico Fonseca⁵, Alla Ishchenko⁶, Patrick Verschueren⁶, Ruth Wittoek⁷, Peggy jacques⁷, Dirk Elewaut⁸, Bernard Lauwerys⁹ and Patrick Durez¹⁰, ¹DNAlytics, Louvain-la-Neuve, Belgium, ²Cliniques Universitaires Saint-Luc – Université catholique de Louvain (UCLouvain) – Institut de Recherche Expérimentale et Clinique (IREC), Rheumatologie, Brussels, Belgium, ³Department of Rheumatology, Saint Pierre University Hospital, Brussels, Belgium, ⁴Faculdade Medicina, Universidade de Lisboa, ULS Santa Maria, Centro Académico Medicina de Lisboa, Lisboa, Portugal, ⁵Faculdade Medicina, Universidade de Lisboa, ULS Santa Maria, Centro Académico Medicina de Lisboa, Lisboa, Lisboa, Portugal, ⁶Rheumatology, University Hospital Leuven and Skeletal Biology and Engineering Research Centre, KU Leuven, Leuven, Belgium, ⁷VIB Center for Inflammation Research, Ghent University and Department of Rheumatology, Ghent University Hospital, Ghent, Belgium, ⁸VIB Center for Inflammation Research, and Ghent University Hospital, Department of Rheumatology, Ghent, Belgium, ⁹Systemic and Inflammatory Rheumatic Diseases Section, Institute of Experimental and Clinical Research (IREC), UCLouvain, Brussels, Belgium, ¹⁰Cliniques Universitaires Saint-Luc – Université catholique de Louvain (UCLouvain) – Institut de Recherche Expérimentale et Clinique (IREC), Rheumatologie, Brussels, Brussels Hoofdstedelijk Gewest, Belgium

Background/Purpose: Rheumatoid arthritis (RA) is a chronic inflammatory disease that can lead to joint damage and disability. Although methotrexate is the standard first-line treatment, about…
Abstract Number: 1849 • ACR Convergence 2025
Time-course RNA sequencing analysis of longitudinal peripheral blood samples to elucidate the factors determining treatment resistance in systemic lupus erythematosus
Shuji Sumitomo¹, Hideki Oka², Takeshi Iwasaki³ and Koichiro Ohmura⁴, ¹Kobe City Medical Center General Hospital, Kobe city, Hyogo, Japan, ²Kobe City Medical Center General Hospital, Kobe, Japan, ³Kyoto University, Kyoto, Japan, ⁴Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan
Background/Purpose: Systemic lupus erythematosus (SLE) encompasses a subset of patients who exhibit resistance to standard treatments, posing a significant challenge to achieving remission. Our study…
Abstract Number: 0959 • ACR Convergence 2025
Longitudinal Multiomic Study of Skin, Peripheral Blood, and Serum: Serum Proteome Reflects the Disease Process at the End-organ Level and Predicts the Course of Modified Rodnan Skin Score
Bich Na Choi¹, Claudia Pedroza², Brian Skaug³, Maureen Mayes⁴ and Shervin Assassi⁵, ¹UTHealth Houston Institute for Clinical Research & Learning Health Care, Houston, TX, ²UTHealth Houston Institute for Clinical Research & Learning Health Care, Texas, TX, ³UTHealth Houston Division of Rheumatology, Houston, TX, ⁴UT Health Houston Division of Rheumatology, Houston, TX, ⁵Division of Rheumatology, UTHealth Houston, Houston, Texas, USA, Houston, TX
Background/Purpose: Clinically useful biomarkers for systemic sclerosis (SSc) are needed. While obtaining samples from affected organs like the skin and lungs is invasive and cannot…
Abstract Number: 0029 • ACR Convergence 2025
A Novel B Cell Subpopulation Characteristic of IgA Vasculitis Identified by Single-Cell RNA Sequencing
Joao Carlos Batista-Liz¹, María Sebastián Mora-Gil², Evan Troendle³, Oisin Cappa³, Maite Leonardo⁴, Ana Peñalba⁴, Luis mARTIN pENAGOS⁵, Ligia Gabrie-Rodriguez⁶, Rafael Gálvez Sánchez⁶, Jose Luis Callejas⁷, Belen Sevilla⁸, Diego de Argila⁹, Esther Vicente-Rabaneda⁹, Santos Castañeda¹⁰, David Simpson³, Ricardo Blanco¹¹, Verónica Pulito Cueto¹ and Raquel Lopez Mejias¹, ¹IDIVAL, Santander, Spain, ²Immunopathology Group, IDIVAL, Santander, Spain, ³Queens University, Wellcome-Wolfson Institute for Experimental Medicine, Belfast, United Kingdom, ⁴Division of Pediatrics, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁵Immunopathology Group, IDIVAL and Division of Nephrology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁶Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander , Spain, Santander, Spain, ⁷Department of Internal Medicine, Hospital San Cecilio, Granada, Spain, ⁸Division of Pediatrics, Hospital Universitario San Cecilio, Granada, Spain, ⁹Hospital Universitario de la Princesa, Madrid, Spain, ¹⁰Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, ¹¹Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander, Spain, Santander, Cantabria, Spain
Background/Purpose: IgA vasculitis (IgAV) is a systemic small-vessel vasculitis characterized by immune complex deposition containing aberrantly glycosylated IgA1. While its clinical manifestations are well defined…

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