Abstract Number: 0910 • ACR Convergence 2024
Reduced Adenosine-Mediated Regulatory Activity Exacerbated by an NT5E Loss of Function Mutation Is Linked to Tissue Inflammation and Hypertension in Systemic Lupus Erythematosus
Background/Purpose: Adenosine is a purine nucleoside generated by the enzymatic activity of CD73/NT5E, that functions as an endogenous regulator of the immune system critical for…Abstract Number: 1773 • ACR Convergence 2024
Divergent Genetic Architecture in Boys and Girls with NEMO-deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) Implies Role for Wildtype Effector Cells
Background/Purpose: Splice-site variants in X-linked IKBKG cause NEMO-deleted exon5 autoinflammatory syndrome (NEMO-NDAS); a pseudogene (IKBKGP1) complicates genetic diagnosis. NEMO-NDAS is four times more common in…Abstract Number: 2387 • ACR Convergence 2024
Biomarkers of Lupus Nephritis Are Less Predictive in APOL1 High Risk Genotype Lupus
Background/Purpose: Compared to Apolipoprotein L1 (APOL1) low risk genotype (LRG) patients, APOL1 (HRG) has been shown to increase the risk of chronic kidney disease in…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…Abstract Number: 0912 • ACR Convergence 2024
Next-Generation Sequencing in Molecular Genetics of Adult-Onset Still’s Disease: Data from 23 Patients and Literature Review
Background/Purpose: Molecular genetic techniques are becoming increasingly essential tools for the diagnosis of monogenic systemic autoinflammatory diseases (SAIDs). However, their role in the diagnosis of…Abstract Number: 1778 • ACR Convergence 2024
A Novel Variant in IRAK2 Results in Immune Dysregulation in Systemic Juvenile Idiopathic Arthritis (sJIA)
Background/Purpose: Lung disease (LD) is poorly understood complication of Still’s disease with high fatality. HLA-DRB1*15 is a strong risk factor for the development of this…Abstract Number: 2505 • ACR Convergence 2024
C5 Signaling Pathway Genes as Key Drivers of the Pathogenesis of IgA Vasculitis?
Background/Purpose: Immunoglobulin A Vasculitis (IgAV) is an inflammatory disease caused by the accumulation of immune complexes of IgA in the walls of small blood vessels…Abstract Number: 0302 • ACR Convergence 2024
TNFAIP3 Loss-of-function and Missense Mutations Demonstrate Clinically Diverse Presentations: A Multi-center Cohort Experience
Background/Purpose: A20 is a critical anti-inflammatory protein encoded by the TNFAIP3 (tumor necrosis factor alpha-induced protein 3) gene. A20 negatively regulates multiple anti-inflammatory pathways including…Abstract Number: 0916 • ACR Convergence 2024
Isocitrate Dehydrogenase 2 Mutations Are Associated with Autoimmune Rheumatologic Diseases in Chronic Myelomonocytic Leukemia
Background/Purpose: Somatic mutations occurring in the hematopoietic system can be associated with concomitant hematologic and inflammatory diseases. Chronic myelomonocytic leukemia (CMML) is a hematologic neoplasm…Abstract Number: 1780 • ACR Convergence 2024
Next Generation Sequencing Analysis Reveals Complex Genetic Architecture of Childhood-onset Systemic Lupus Erythematosus
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a potentially life-threatening autoimmune disease. Childhood-onset SLE (cSLE) patients have younger disease onset and more severe disease than adults,…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: 0553 • ACR Convergence 2024
Analyzing the Utilization of HLA-B27 Testing in a Large Rural Health System: Implications for Diagnostic Appropriateness
Background/Purpose: Human leukocyte antigen (HLA)-B27 is linked to spondyloarthropathies (SpA), uveitis, and inflammatory bowel disease (IBD). By analyzing ordering diagnoses and final diagnoses during patient…Abstract Number: 0917 • ACR Convergence 2024
Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Mutations in Familial Mediterranean Fever
Background/Purpose: Predicting the pathogenicity of amino acid substitutions is crucial for understanding the functional consequences of genetic variations. Several computational methods frequently used so far…Abstract Number: 1782 • ACR Convergence 2024
DOCK2 Mutations and Hyper-Inflammatory Syndromes
Background/Purpose: Cytokine storm syndromes (CSS) are frequently fatal hyper-inflammatory complications of a variety of oncologic, rheumatic, and infectious diseases. Many patients with CSS possess heterozygous…Abstract Number: 2533 • ACR Convergence 2024
Genome-wide Association of Rheumatoid Arthritis in the African Ancestry Identifies HLA Amino Acid Polymorphisms of Risk
Background/Purpose: The association between RA and the MHC is largely explained by five amino acid (AA) positions: DRB1 positions 11, 13, 71, and 74, HLA-B…
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