Abstracts tagged "Gene Expression"

Abstract Number: 2425 • ACR Convergence 2025
Neutrophil Transcriptomics in SLE: Exploring Intrinsic, Ex Vivo Adaptation, and CAR-T Cell Therapy-Induced Changes
Ehsan Dehdashtian¹, Stefania Gallucci², Guangnan Hu³, Dominic Borie⁴ and Roberto Caricchio⁵, ¹UMass Chan Medical School, Worcester, MA, ²Temple University School of Medicine, Worcester, MA, ³UMass Chan School of Medicine, Worcester, MA, ⁴Kyverna Therapeutics, Emeryville, CA, ⁵University of Massachusetts Chan Medical School, Worcester, MA
Background/Purpose: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by dysregulation of the adaptive and innate immune systems. Neutrophils, key players in innate immunity,…
Abstract Number: 1725 • ACR Convergence 2025
Functional NOTCH4 Variants Drive Vasculopathy and Fibrosis in Systemic Sclerosis.
Urvashi Kaundal¹, Pei-Suen Tsou², Mousumi Sahu³, Mengqi Huang⁴, Steven Boyden⁵, Curtis Woodford⁶, Daniel Shriner⁷, Emilee Stenson⁴¹, Sarah Safran⁸, Yuechen Zhou⁹, Taylor Talley⁴², Kaavya Gudapati⁴³, Xuetao Zhang⁶, Yosuke Kunishita¹⁰, Janet Wang⁴⁴, Ami Shah¹¹, Maureen Mayes¹², Ayo Doumatey¹³, Amy Bentley⁷Janet , Robyn Domsic⁴, Thomas Medsger, Jr¹⁴, Paula Ramos¹⁵, Richard Silver¹⁶, Virginia Steen¹⁷, John Varga², Vivien Hsu¹⁸, Lesley Ann Saketkoo¹⁹, Elena Schiopu²⁰, Jessica Gordon²¹, Lindsey Criswell²², Heather Gladue²³, Chris Derk²⁴, Elana Bernstein²⁵, S. Louis Bridges²¹, Victoria Shanmugam²⁶, Lorinda Chung²⁷, Suzanne Kafaja²⁸, Reem Jan⁴⁵, Marcin TROJANOWSKI²⁹, Avram Goldberg⁴⁶, Benjamin Korman³⁰, James Mullikin³¹, James Thomas³¹, Stefania Dell'orso³², davide Randazzo³³, Adebowale Adeyemo⁷, Elaine Remmers³⁴, Pamela Schwartzberg³⁵, Ivona Aksentijevich³⁶, Charles Rotimi⁷, Fredrick Wigley³⁷, Rong Wang⁶, Francesco Boin³⁸, Dinesh Khanna², Robert Lafyatis⁴, Daniel Kastner³⁹, Pravitt Gourh⁴⁰, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD, ²University of Michigan, Ann Arbor, MI, ³National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁴University of Pittsburgh, Pittsburgh, PA, ⁵Utah Center for Genetic Discovery, Department of Human Genetics, University of Utah, Salt Lake City, UT, Bethesda, MD, ⁶Laboratory for Accelerated Vascular Research, Department of Surgery, University of California, San Francisco, San Francisco, CA, san francisco, CA, ⁷Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethesda, MD, ⁸National Institute of Arthritis and Musculoskeletal and Skin Diseases, New York, NY, ⁹Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, Pittsburg, PA, ¹⁰National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Rockville, MD, ¹¹Johns Hopkins Rheumatology, Baltimore, MD, ¹²UT Health Houston Division of Rheumatology, Houston, TX, ¹³Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethedsa, MD ¹⁴Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, Verona, PA, ¹⁵Emory University School of Medicine, Atlanta, GA, ¹⁶Medical University of South Carolina, Charleston, SC ¹⁷Georgetown University School of Medicine, Washington, DC, ¹⁸Rutgers- RWJ Medical School, South Plainfield, NJ, ¹⁹University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, ²⁰Division of Rheumatology, Medical College of Georgia at Augusta University, Augusta, GA, Augusta, GA, ²¹Hospital for Special Surgery, New York, NY, ²²NIH/NHGRI, Bethesda, MD, ²³Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ²⁴University of Pennsylvania, Philadelphia, PA, ²⁵Columbia University Irving Medical Center, New York, NY, ²⁶Office of Autoimmune Disease Research, Office of Research on Women's Health, Office of the Director, National Institutes of Health, Bethesda, MD, bethesda, MD, ²⁷Stanford University, Stanford, CA, ²⁸UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, ²⁹BOSTON UNIVERSITY SCHOOL OF MEDICINE, BOSTON, MA, ³⁰University of Rochester, Rochester, NY, ³¹NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethesda, MD, ³²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³³Light Imaging Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, Bethesda, ³⁴Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethesda, MD, ³⁵Cell Signaling and Immunity Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, Bethesda, MD, ³⁶100, Bethesda, MD, ³⁷Johns Hopkins University, Baltimore, MD, ³⁸Cedars-Sinai Medical Center, Beverly Hills, CA, ³⁹National Human Genome Research Institute, Bethesda, MD, ⁴⁰National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD,⁴¹NIH, Bethesda, MD, ⁴² Spelman College and post-bac National Institutes of Health, Bethesda, MD, ⁴³Georgia Institute of Technology, Alpharetta, GA, ⁴⁴National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Beachwood, OH, ⁴⁵University of Chicago, Chicago, IL, ⁴⁶NYU Langone Health - NYU Hospital for Joint Diseases, Lake Success, NY.

Background/Purpose: Systemic sclerosis (SSc) is characterized by vasculopathy, progressive fibrosis of skin and internal organs, and autoimmunity. Notably, African American (AA) patients with SSc exhibit…
Abstract Number: 0118 • ACR Convergence 2025
Single-cell RNA sequencing of skin reveals vascular dysregulation in antiphospholipid syndrome
Ecem Sevim¹, Sumith Panicker², Gustaf Wigerblad³, Stefania Dell'orso⁴, Sharon Osgood², Leslie Castelo-Soccio⁵, Keisuke Nagao⁶ and Yogendra Kanthi⁷, ¹NIAMS/NIH, Bethesda, MD, ²NHLBI/NIH, Bethesda, ³National Institutes of Health, Stockholm, Sweden, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁵NIAMS/NIH, Bethesda, ⁶NIAMS, Bethesda, MD, ⁷National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD
Background/Purpose: Antiphospholipid syndrome (APS) is a systemic autoimmune thromboinflammatory disorder defined by persistent antiphospholipid antibodies (aPL) and characterized clinically by macrovascular thrombosis, microvascular disease, and…
Abstract Number: 2224 • ACR Convergence 2025
Failure of Steroid and Antimalarial Therapy to Normalize Placental Interferon and Angiogenic Gene Expression in SLE
Seemal Faisal¹, Alexandra Anderson², Luke Sharrock³, James Tran⁴ and Milena Vukelic⁵, ¹Louisiana State University Health Science Center New Orleans, New Orleans, ²Louisiana State University Health Science Center New Orleans, Phoenix, AZ, ³Louisiana State University Health Science Center, New Orleans, LA, ⁴Louisiana State University Health Science Center, New Orleans, ⁵Rheumatology Fellowship Program Director Louisiana State University, New Orleans, LA
Background/Purpose: Systemic lupus erythematosus (SLE) is associated with an increased risk of placental insufficiency and adverse pregnancy outcomes, even when the disease is clinically quiescent.…
Abstract Number: 1700 • ACR Convergence 2025
Altered Gene Expression In Male SLE Is Mapped To a Male-Specific Y Chromosome Locus Associated with Microdeletions
Mikhail Olferiev¹, Kyriakos Kirou¹, Emily Wu², Dina Greenman¹ and Mary Crow³, ¹Hospital for Special Surgery, New York, NY, ²Hospital for Special Surgery, Union City, NJ, ³Hospital for Special Surgery, New York
Background/Purpose: SLE occurs more frequently in females than males, with relative prevalence 9-10:1. While the impact of hormones on immune function may contribute to the…
Abstract Number: 0097 • ACR Convergence 2025
Aberrant histone marks increase the inflammatory phenotype of rheumatoid arthritis fibroblast-like synoviocytes (RA FLS) by suppressing NUB1 induction
Yosuke Ono¹, Camilla R.L. Machado², Eunice Choi¹, Wei Wang¹, David Boyle¹ and Gary Firestein², ¹University of California, San Diego, San Diego, ²University of California, San Diego, San Diego, CA
Background/Purpose: Fibroblast-like synoviocytes (FLS) play a central role in cartilage destruction and cytokine production in rheumatoid arthritis (RA). Neddylation, a post-translational modification involving NEDD8 conjugation,…
Abstract Number: 2219 • ACR Convergence 2025
Transcriptomic and Immune Landscape of Recurrent Pregnancy Loss and Unexplained Infertility in Systemic Lupus Erythematosus
Rodolfo Martinez-Canales¹, Braulio R. Avalos-Garcia², Andres M. Ortiz-Rios², Eva Abigaid Galindo-Calvillo², 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: Recurrent pregnancy loss (RPL) and unexplained infertility (UIF) are significant reproductive health challenges in patients with systemic lupus erythematosus (SLE). SLE causes systemic inflammation…
Abstract Number: 1309 • ACR Convergence 2025
Transcriptomic biomarkers of progression from undifferentiated arthritis to rheumatoid arthritis
Christina Printzis¹, Keerthana Nagesh Prabhu², Regina Sakalyte³, Sigita Stropuviene³ and Damini Jawaheer¹, ¹Northwestern University, Chicago, IL, ²Washington University in St. Louis, St Louis, MO, ³Vilnius University, Faculty of Medicine, Institute of Clinical Medicine, Clinic of Rheumatology, Orthopedics Traumatology and Reconstructive Surgery, Vilnius, Lithuania
Background/Purpose: A broad range (6-55%) of patients classified as having undifferentiated arthritis (UA) tend to progress to rheumatoid arthritis (RA), suggesting that UA in these…
Abstract Number: 0095 • ACR Convergence 2025
Effect of JAK Inhibitors on Osteoblast Differentiation
Toshihiro Tanioka¹ and Takeo Isozaki², ¹Graduate School of Pharmacy, Showa Medical University, Shinagawa-ku,Tokyo, Tokyo, Japan, ²Graduate School of Pharmacy, Showa Medical University, Tokyo, Tokyo, Japan
Background/Purpose: Rheumatoid arthritis (RA) is an autoimmune disease characterized by chronic inflammation and joint destruction. Among the therapeutic strategies available, Janus kinase (JAK) inhibitors have…
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…

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