Abstract Number: 0037 • ACR Convergence 2023
New Histological Approach in Spatial Transcriptomics Implicates Glandular Cell Involvement in Pathophysiology of Sjögren’s Disease
Background/Purpose: 10X Visium spatial transcriptomics evaluates gene expression in a 50μm tile coordinate of a sectioned tissue, yielding heterogeneous cell sampling. Spatial PCA algorithm was…Abstract Number: 1660 • ACR Convergence 2023
Still’s Disease Patients with High Interferon-stimulated Gene Expression Have Enrichment of Rare, de Novo and Recessive Protein Altering Variants in Innate Immune Pathways
Background/Purpose: Still’s disease (systemic juvenile idiopathic arthritis in children, adult-onset Still’s disease in adults) is an enigmatic inflammatory condition that affects people of all ages.…Abstract Number: 0039 • ACR Convergence 2023
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a complex inflammatory condition of childhood. It can be complicated by macrophage activation syndrome (MAS), a secondary form…Abstract Number: 1694 • ACR Convergence 2023
Transcriptomic Analysis of the Impact of Iberdomide on Patients with SLE
Background/Purpose: Iberdomide is a high affinity cereblon ligand that promotes ubiquitylation and proteasomal degradation of Ikaros (IKZF1) and Aiolos (IKZF3) transcription factors and, thereby altering…Abstract Number: 0063 • ACR Convergence 2023
Investigating Macrophage Repopulation in the Synovium
Background/Purpose: Rheumatoid Arthritis (RA) is an autoimmune disease characterized by chronic inflammation of the joints. Macrophages are a key mediator of pro-inflammatory signaling, contributing to…Abstract Number: 1712 • ACR Convergence 2023
Identification and Functional Characterization of Eight CANDLE/PRAAS Causing Proteasome Variants in Five Unrelated Patients
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
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
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
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
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
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
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
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
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
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…
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