Abstracts tagged "Gene Expression"

Abstract Number: 1845 • ACR Convergence 2025
Immune Cell Profiles and Transcriptomic Signatures of Atherosclerosis in Systemic Lupus Erythemathosus
Rodolfo Martinez-Canales¹, Andres M. Ortiz-Rios², Braulio R. Avalos-Garcia², Eva Abigaid Galindo-Calvillo², Mario Cesar Salinas-Carmona¹, Noe Macias-Segura¹, Lorena Perez-Barbosa², Dionicio A. Galarza-Delgado³ and Cassandra Michele Skinner-Taylor², ¹Immunology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Nuevo Leon, Mexico, ²Rheumatology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Nuevo Leon, Mexico, ³Rheumatology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Mexico
Background/Purpose: Systemic lupus erythematosus (SLE) significantly increases the risk of premature atherosclerosis, contributing to long-term morbidity and mortality. Traditional cardiovascular risk factors do not fully…
Abstract Number: 0944 • ACR Convergence 2025
L-sepiapterin treatment reduces renal cortical gene expression associated with oxidative stress and fibrosis in NZM2410 murine lupus nephritis
Dayvia Russell¹, Soroush Moradi², Suganya Subramanian², Silvia Vaena², Sandra Mungaray², Stanley Hoffman², Stefano Berto² and Jim Oates², ¹Ralph H. Johnson VA, Charleston, SC, ²Medical University of South Carolina, Charleston, SC
Background/Purpose: Systemic lupus erythematosus (SLE) is a disease of endothelial (EC) dysfunction. We hypothesize that much of this dysfunction stems from uncoupling of endothelial nitric…
Abstract Number: 1834 • ACR Convergence 2025
Integrative Bioinformatics Analysis Reveals Key Genes and Immune Profiles Associated with Preeclampsia in Lupus Pregnancy
Rodolfo Martinez-Canales¹, Eva Abigaid Galindo-Calvillo², Andres M. Ortiz-Rios², Braulio R. Avalos-Garcia², Lorena Perez-Barbosa², Dionicio A. Galarza-Delgado³, Cassandra Michele Skinner-Taylor², Mario Cesar Salinas-Carmona¹ and Noe Macias-Segura¹, ¹Immunology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Nuevo Leon, Mexico, ²Rheumatology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Nuevo Leon, Mexico, ³Rheumatology Service, Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Mexico
Background/Purpose: Preeclampsia (PE) is a serious complication of pregnancy associated with significant maternal and fetal outcomes. Systemic lupus erythematosus (SLE) significantly increases the risk of…
Abstract Number: 0846 • ACR Convergence 2025
A Longitudinal Transcriptomic Study of Mycophenolate Mofetil in Systemic Sclerosis Skin with Clinical and Molecular Stratification
Rezvan Parvizi¹, Zhiyun Gong², Natania Field³, Helen Jarnagin², Dillon Popovich², Monica Yang⁴, Kathleen Aren⁵, Mary Carns⁶, Isaac Goldberg⁷, Lorinda Chung⁸, Vivien Goh⁹, Zsuzsanna McMahan¹⁰, Tammara Wood¹¹, Dinesh Khanna¹², Monique Hinchcliff¹³ and Michael Whitfield¹⁴, ¹Dartmouth, lebanon, NH, ²Dartmouth College, Lebanon, NH, ³Northwestern Memorial Hospital, Chicago, IL, ⁴UCSF, San Francisco, CA, ⁵Northwestern University Division of Rheumatology, Chicago, IL, ⁶Northwestern University, Chicago, IL, ⁷Wayne State University, Detroit, ⁸Stanford University, Stanford, CA, ⁹Northwestern, Chicago, ¹⁰UT Health Houston, Houston, TX, ¹¹Dartmouth, Hanover, NH, ¹²University of Michigan, Ann Arbor, MI, ¹³Yale School of Medicine, Westport, CT, ¹⁴Geisel School of Medicine, Lebanon, NH
Background/Purpose: Mycophenolate Mofetil (MMF) is the most commonly prescribed immunosuppressive treatment for patients diagnosed with diffuse cutaneous systemic sclerosis (dcSSc). Here, we analyzed skin gene…
Abstract Number: 1821 • ACR Convergence 2025
Transcriptiomics of tear RNA from children with active and inactive chronic anterior uveitis
Donna Do¹, Brandon Michalidas², Mariia Pavlenko³, Alexandra Duell², Sheila Angeles-Han⁴ and Grant Schulert², ¹Cincinnati Children's Hospital Medical Center, Division of Rheumatology, Cincinnati, OH, ²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Cincinnati Children`s Hospital Medical Center, Cincinnati, OH, ⁴Cincinnati Children's Hospital, Cincinnati, OH
Background/Purpose: Chronic anterior uveitis (CAU) is a potentially sight-limiting complication of pediatric rheumatic diseases, including juvenile idiopathic arthritis. However, the underlying inflammatory biology of CAU…
Abstract Number: 0823 • ACR Convergence 2025
Longitudinal model of paired peripheral blood CITE-seq and skin scRNA-seq data in juvenile systemic sclerosis (jSSc) patients following autologous stem cell transplant (ASCT) reveals reduced expression of SSc marker genes
Julia Elrod¹, Theresa hutchins², Anwesha Sanyal², Paul Szabolcs², Paulina Horvei², Jon Li², F. William Townes¹ and Kathryn Torok², ¹Carnegie Mellon, Pittsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Juvenile systemic sclerosis (jSSc) is a rare, life-threatening autoimmune disease characterized by fibrosis and immune dysregulation. Autologous stem cell transplant (ASCT) is an emerging…
Abstract Number: 1819 • ACR Convergence 2025
Spatial Transcriptomic Profiling Reveals Interferon Activation and CD8⁺ T Cell Dominance in Systemic Juvenile Idiopathic Arthritis-Macrophage Activation Syndrome Liver Inflammation
Esraa Eloseily¹, Taskin Sabit², Lara Berklite³, Grant Schulert⁴ and Alexei Grom⁴, ¹UT Southwestern Children's Medical Center, Dallas, TX, ²Cincinnati Children's Hospital Medical Center, Division of Rheumatology, Cincinnati, OH, ³Cincinnati Children's Hospital, Cincinnati, OH, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) with macrophage activation syndrome (MAS) involves severe systemic inflammation and hepatocellular injury. Our prior histopathology studies showed increased CD8⁺…
Abstract Number: 0811 • ACR Convergence 2025
SSc Skin Cell Atlas: a Scalable Web Portal for scRNA-Seq Analysis
Helen Jarnagin¹, Zhiyun Gong¹, Rachael Bogle², Alex Tsoi², Rezvan Parvizi³, Madeline Morrisson⁴, Dinesh Khanna⁵, Johann Gudjonsson⁵ and Michael Whitfield⁶, ¹Dartmouth College, Lebanon, NH, ²University of Michigan, Holland, OH, ³Dartmouth, lebanon, NH, ⁴Geisel School of Medicine at Dartmouth College, Hanover, NH, ⁵University of Michigan, Ann Arbor, MI, ⁶Geisel School of Medicine, Lebanon, NH
Background/Purpose: Despite the recent popularity and utility of modern high-resolution sequencing technologies, leveraging publicly available single-cell studies remains hampered by the need for substantial computational…
Abstract Number: 1816 • ACR Convergence 2025
Single-Cell RNA-Transcriptomics of JDM Skin Identifies JDM-Associated Immune Cell Populations and Dysregulated Interferon Signaling in Immune and Endothelial Cells
Chioma Madubata¹, Jessica Neely², Christine Goudsmit³, Celine Berthier⁴, Zilan Zheng⁵, Sophia Matossian⁴, Jeffrey Dvergsten⁶, Andrew Heaton⁷, J. Michelle Kahlenberg⁴, Gabrielle Fragiadakis⁸ and Jessica Turnier⁹, ¹UCSF, SF, CA, ²UCSF, San Francisco, CA, ³University of Michigan, Ann Arbor, ⁴University of Michigan, Ann Arbor, MI, ⁵University of California, San Francisco, San Francisco, CA, ⁶Duke University Hospital, Hillsborough, NC, ⁷Cure JM Foundation, Anthony, FL, ⁸UCSF, San Francisco, ⁹University of Michigan, Saline, MI
Background/Purpose: Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy in children. JDM often presents with rash, and skin inflammation is more refractory to…
Abstract Number: 0797 • ACR Convergence 2025
Spatial transcriptomics identifies density-sensing fibroblasts in synovial lining
Sonia Presti¹, Kseniia Anufrieva², Ce Gao³, Sean Prell², Philip Blazar², Jeffrey Lange², Morgan Jones², Mihir Wechalekar⁴, Michael Brenner², Ilya Korsunsky⁵, Shideh Kazerounian² and Kevin Wei⁶, ¹Standford University, Stanford, ²Mass General Brigham, Boston, ³Division of Rheumatology, Inflammation and Immunity, DOM, BWH; Harvard Medical School, Boston, MA, ⁴Flinders Medical Centre, Adelaide, Australia, ⁵Division of Rheumatology, Inflammation and Immunity, DOM, BWH; Division of Genetics, DOM, BWH; Harvard Medical School, Boston, MA, ⁶Brigham and Women's Hospital at Harvard Medical School, Boston, MA
Background/Purpose: The synovial lining is crucial for joint homeostasis, forming a barrier and producing lubricants through specialized fibroblasts. These fibroblasts differ from sublining fibroblasts, which…
Abstract Number: 2700 • ACR Convergence 2025
Neutrophil Transcriptomics and Maturation Pathways in VEXAS Syndrome
Chloe Palmer¹, Gustaf Wigerblad², Tom Hill³, Benjamin Turturice¹, Urvashi Kaundal¹, Paul Schaughency³, Bhavisha Patel⁴, Emma Groarke⁵, Neal Young⁵, Stefania Dell'orso¹ and Peter Grayson⁶, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institutes of Health, Stockholm, Sweden, ³NIAID, NIH, Bethesda, MD, ⁴National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Beltsville, MD, ⁵National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, ⁶National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe adult-onset inflammatory disease caused by somatic mutations of the ubiquitin-like modifier activating enzyme…
Abstract Number: 1812 • ACR Convergence 2025
Inflammasome and UPR activation in monocytes of HLA B27 positive children with Enthesitis related arthritis category of JIA
Shivika Guleria¹ and Amita Aggarwal², ¹SGPGIMS, Lucknow, Lucknow, Uttar Pradesh, India, ²Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, Lucknow, Uttar Pradesh, India
Background/Purpose: Enthesitis related arthritis (ERA) is a chronic immune-inflammatory disease with unknown etiology. HLA-B27 is the strongest risk factor predisposing to ERA like Spondyloarthritis (SpA).…
Abstract Number: 0782 • ACR Convergence 2025
Expansion of T-bet⁺ Age-Associated B Cells Is Associated with Clinical Complications in Still’s Disease
Krisztian Csomos¹, Boglarka Ujhazi¹, Mariana Correia Marques², Emily Rosenbaum¹ and Michael Ombrello³, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, ²Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD
Background/Purpose: Still’s disease is a rare and severe autoinflammatory disorder characterized by daily spiking fevers, arthritis, an evanescent rash, and prominent systemic features, including lymphadenopathy,…
Abstract Number: 0316 • ACR Convergence 2024
Development and Evaluation of the Adult-onset Still’s Disease Activity Index Based on Whole RNA-seq Analysis: A Novel Approach Independent of Tocilizumab Treatment
Mayu Magi¹, Hiroto Yoshida¹, Hiroya Tamai², Kotaro Matsumoto², Keiko Yoshimoto², Yoshihiro Matsumoto¹, Tetsuhiro Soeda¹ and Yuko Kaneko², ¹Chugai Pharmaceutical Co., Ltd., Kanagawa, Japan, ²Keio University School of Medicine, Tokyo, Japan
Background/Purpose: Tocilizumab (TCZ), an anti-IL-6 receptor antibody, has been shown to be effective in the treatment of adult-onset Still's disease (AOSD), a systemic inflammatory disease.…
Abstract Number: 1105 • ACR Convergence 2024
PDGFA and TGFB1, Key Genes to Discriminate Autoimmune Diseases-Related Interstitial Lung Disease from Idiopathic Pulmonary Fibrosis?
Veronica Pulito-Cueto¹, Belén Atienza-Mateo², David Iturbe-Fernández³, Victor M. Mora-Cuesta³, Joao Carlos Batista-Liz¹, María Sebastián Mora-Gil⁴, José M. Cifrián⁵, Ricardo Blanco-Alonso⁶ and Raquel Lopez-mejias¹, ¹IDIVAL, Santander, Spain, ²Division of Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Immunopathology group, Santander, Cantabria, Spain, ³Immunopathology Group, Valdecilla Research Institute (IDIVAL) and Department of Pneumology, Marqués de Valdecilla University Hospital (HUMV), Santander, ⁴Immunopathology Group, Valdecilla Research Institute (IDIVAL) and Department of Rheumatology, Marqués de Valdecilla University Hospital (HUMV), Santander, ⁵Division of Rheumatology, Hospital Universitario Marqués de Valdecilla. Immunopathology group, IDIVAL, Santander, ⁶Division of Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Immunopathology group, Santander, Spain
Background/Purpose: Interstitial lung disease (ILD) constitutes one of the main causes of mortality in patients with autoimmune diseases (ADs) [1]. The early diagnosis of AD-ILD+…

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