Abstract Number: 1857 • ACR Convergence 2024
Thymic Mimetic Cells in Humans, Mice and Fish Are Evolutionarily Ancient with Species-specific Adaptations
Background/Purpose: Thymic mimetic cells are molecular hybrids between medullary thymic epithelial cells (mTECs) and diverse peripheral cell types. They are involved in eliminating autoreactive T…Abstract Number: 0628 • ACR Convergence 2024
Genetic Determinants of Childhood Onset Systemic Lupus Erythematosus
Background/Purpose: Childhood-onset systemic lupus erythematosus (cSLE) is a multisystem autoimmune disease with significant morbidity and mortality. Genome-wide association studies have identified more than 100 variants…Abstract Number: 0958 • ACR Convergence 2024
TCR Motifs Identify Unique Clones in African Americans with Systemic Sclerosis
Background/Purpose: Systemic sclerosis (SSc) is a rare multisystem autoimmune disease that disproportionately affects African Americans (AA). Previous work from our lab has suggested a pivotal…Abstract Number: 1871 • ACR Convergence 2024
A Seropositive RA Polygenic Risk Score Does Not Predict Progression to RA in an ACPA Positive Population
Background/Purpose: Serum autoantibodies, such as ACPA and RF, are commonly detectable prior to the development of seropositive clinical RA; however, not all individuals with these…Abstract Number: 0766 • ACR Convergence 2024
Neutrophil Transcriptomics in VEXAS Syndrome
Background/Purpose: Vacuoles, E1 ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene and…Abstract Number: 0960 • ACR Convergence 2024
The Esophageal Epithelium in Systemic Sclerosis: Cellular and Molecular Dysregulation Revealed by Single-Cell RNA Sequencing
Background/Purpose: Systemic sclerosis (SSc) is a rare autoimmune disease characterized by vasculopathy and progressive fibrosis of the skin and internal organs. Individuals with SSc often…Abstract Number: 2036 • ACR Convergence 2024
CCN6 Gene Mutation Induces Mitochondrial Dysfunction: The Cause of Progressive Pseudo-rheumatoid Dysplasia
Background/Purpose: Progressive pseudo-rheumatoid dysplasia (PPRD) is a rare autosomal recessive disorder characterized by non-inflammatory joint issues that primarily affect the articular cartilage. This leads to…Abstract Number: 0869 • ACR Convergence 2024
Deciphering Pathogenic Phenotypes by Multi-modal Deep Single-cell Blood Immunophenotyping in Individuals At-risk for Rheumatoid Arthritis
Background/Purpose: Rheumatoid arthritis (RA) is a systemic autoimmune disease with currently no effective prevention strategies. Single-cell technologies have been recently used to investigate established RA…Abstract Number: 0962 • ACR Convergence 2024
Characterizing the Contribution of Myeloid Cells to Limited and Diffuse Cutaneous Systemic Sclerosis
Background/Purpose: Systemic sclerosis (SSc) is an autoimmune disease characterized by multiorgan fibrosis. The two main subtypes are diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc…Abstract Number: 2267 • ACR Convergence 2024
A Novel Blood-based Assay That Predicts Clinical Response to TNFα Inhibitors or Janus Kinase Inhibitors in Patients with Rheumatoid Arthritis
Background/Purpose: Current rheumatoid arthritis (RA) treatments, including TNFa inhibitors (TNFi) and JAK inhibitors (JAKi), have transformed the management of RA by controlling symptoms and slowing…Abstract Number: 0885 • ACR Convergence 2024
Reproducible Single Cell Annotation of Programs Underlying T-cell Subsets, Activation States, and Functions
Background/Purpose: T-cells play a key role in the pathogenesis of autoimmune disease and in protection against cancer and infection. Consequently, there is widespread interest in…Abstract Number: 0965 • ACR Convergence 2024
Scleroderma Associated Interstitial Lung Disease Is Characterized by Aberrant Lung Epithelial Remodeling
Background/Purpose: Interstitial lung disease (ILD) is present in a majority of systemic sclerosis (SSc) patients and the leading cause of SSc-related mortality. A subset of…Abstract Number: 2516 • ACR Convergence 2024
Exome-Wide Rare Variant Association Study of Takayasu’s Arteritis
Background/Purpose: Takayasu’s arteritis (TAK) is a rare inflammatory disease primarily involving the aorta and its major branches. Multiple genetic association studies on common variants in…Abstract Number: 0887 • ACR Convergence 2024
Identification of Rare Variants in Lupus-causing Genes in a Mixed Paediatric and Adult Connective Tissue Disease Cohort
Background/Purpose: Connective tissue diseases (CTDs) are a family of heterogeneous autoimmune diseases with overlapping clinical features. Not all patients with features suggestive of a mendelian…Abstract Number: 1354 • ACR Convergence 2024
The Association of Genetic Variation in PTPN22 and Rheumatoid Arthritis Disease Activity
Background/Purpose: PTPN22 R620W is a common genetic variation that is a known risk factor for the development of autoimmune disease, including rheumatoid arthritis (RA). This…
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