Abstract Number: 1292 • ACR Convergence 2025
Childhood-onset Behçet’s disease: HLA alleles role on diagnosis and treatment in a Latin American tertiary center
Background/Purpose: Behçet’s disease (BD) is a rare pediatric vasculitis with limited epidemiological data in Latin America centers, especially in children where initial symptoms can be…Abstract Number: 0047 • ACR Convergence 2025
Monocyte Transcriptomic Signatures Uncover Potential Pathogenic Mechanisms of the APOL1 High Risk Genotype (HRG)
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: 2390 • ACR Convergence 2025
SLE Genetic Risk Loci in the Context of Environmental Exposure: A Gene-Based Classification and Clinical Insight
Background/Purpose: Growing evidence supports the role of chemical exposures as contributors to the development of Systemic lupus erythematosus (SLE)1. Several of the gene variants associated…Abstract Number: 1221 • ACR Convergence 2025
Oxytocin pathway gene BST1 polymorphism rs4273468 genotype GG is negatively associated with Fibromyalgia
Background/Purpose: Oxytocin, also known as love hormone, is important in contextual memory. Oxytocin secreting parvocellular neurons suppress pain through projections to brain and spinal cord…Abstract Number: 0039 • ACR Convergence 2025
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe COVID-19 Cytokine Storm Syndrome
Background/Purpose: Severe COVID-19 infection resulting in hospitalization shares features with frequently fatal cytokine storm syndromes (CSS), such as hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome…Abstract Number: 2270 • ACR Convergence 2025
ACKR1 and Leukopenia in Patients with Rheumatoid Arthritis Treated with Disease Modifying Antirheumatic Drugs
Background/Purpose: Disease-modifying antirheumatic drugs (DMARDs) such as methotrexate, sulfasalazine, and leflunomide arecommonly prescribed for RA treatment but carry the risk of leukopenia. The ACKR1 promoter…Abstract Number: 1197 • ACR Convergence 2025
Genetic Profiling of Idiopathic Inflammatory Myopathies in Indian Patients Reveals Genotype-Phenotype Correlation
Background/Purpose: Idiopathic inflammatory myopathies (IIMs) are rare autoimmune muscle disorders with complex genetic underpinnings. Most genetic studies have focused on limited populations. This study explores…Abstract Number: 0036 • ACR Convergence 2025
Integrated Analysis of Polygenic and Environmental Risk Scores for Late-Onset Systemic Lupus Erythematosus
Background/Purpose: Polygenic risk scores (PRS) have been constructed to summarize genetic risk but there is limited research on environment-wide analysis of risk factors for systemic…Abstract Number: 2152 • ACR Convergence 2025
Blau Syndrome: features beyond the classic triad and proposal for clinical criteria
Background/Purpose: This study describes the characteristic clinical and radiological findings and outcomes of patients with Blau syndrome from a single tertiary care hospital.Methods: A retrospective…Abstract Number: 1170 • ACR Convergence 2025
A20 Haploinsufficiency (HA20): TNFAIP3 Mutation Prevalence In A Clinically Compatible Cohort
Background/Purpose: Haploinsufficiency of A20 (HA20) is a disease at the crossroads between autoinflammation and autoimmunity, caused by heterozygous mutations in TNFAIP3, which encodes the A20…Abstract Number: 0034 • ACR Convergence 2025
Meta-Analysis of GWAS data from 10,003 Sjögren’s Disease Cases Identifies Thirteen Sjögren’s Risk Loci.
Background/Purpose: Sjögren’s disease (SjD) is a systemic autoimmune condition with a complex genetic architecture. To date, 22 genome-wide significant (GWS) SjD risk loci have been…Abstract Number: 2046 • ACR Convergence 2025
Utilization of the All of Us Research Program to Study the Impact of Genetic Background on Autoinflammatory Diseases
Background/Purpose: A widely recognized model of disease pathogenesis is the potential interplay of gene x gene x environment. Low penetrance variants in the NOD-like receptor…Abstract Number: 1171 • ACR Convergence 2025
VEXAS Syndrome Under the Lens: A prospective analysis of temporal disease patterns, biomarker Dynamics, and therapeutic efficacy
Background/Purpose: VEXAS syndrome is an adult-onset autoinflammatory disorder caused by somatic mutations in UBA1 gene, characterized by systemic inflammation and haematologic abnormalities. Evidence regarding its…Abstract Number: 0033 • ACR Convergence 2025
Development and Internal Validation of Two Human Leukocyte Antigen Genetic Risk Scores for Predicting Rheumatoid Arthritis Progression and Anti-Citrullinated Protein Antibody-Positivity
Background/Purpose: Human leukocyte antigen (HLA) class II genes play a central role in antigen presentation and immune modulation. The shared epitope (SE) region within HLA-DRB1…Abstract Number: 0114 • ACR Convergence 2024
Rare Germline Variants in Complement Regulatory Genes in Antiphospholipid Antibody Positive Patients: Prospective Results from AntiPhospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION) Clinical Database and Repository (“Registry”)
Background/Purpose: We previously reported that markers of complement activation, specifically elevated C4d levels and positive modified HAM (mHAM) test, are associated with a higher risk…
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