Abstract Number: 0149 • ACR Convergence 2022
Autoinflammatory Diseases Associated with NOD2 and Other Concurrent Genetic Mutations
Background/Purpose: Systemic autoinflammatoy diseases (SAIDs) are primarily caused by abnormal innate immune response. NOD-like receptors (NLRs) are intracellular sensors to the immune process, including NOD2,…Abstract Number: 1121 • ACR Convergence 2022
Intricate Roles of Low Gene Copy Numbers for Complement C4, C4A Deficiency and HLA-DRB1*03 as Genetic Risk Factors for Myositis, Its Subgroups and Autoantibodies
Background/Purpose: Idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases characterized by autoantibodies plus infiltration of leukocytes into muscles and/or the skin, leading to…Abstract Number: 1552 • ACR Convergence 2022
Rare Variant Analysis of Aortopathy Genes in Takayasu’s Arteritis
Background/Purpose: A set of genes has been associated with aortopathies, which are defined as non-inflammatory diseases where the integrity of large arteries is compromised leading…Abstract Number: 2230 • ACR Convergence 2022
Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study
Background/Purpose: Relapsing polychondritis (RP) is a rare rheumatic disease of unknown etiology characterized by inflammations of cartilaginous structures and other tissues, particularly the ears, nose,…Abstract Number: 0336 • ACR Convergence 2022
Machine Learning Approach for the Prediction of Lupus Nephritis Renal Flares Using Polygenic Risk Score and Electronic Health Record
Background/Purpose: Lupus nephritis (LN) flares are associated with risks of renal failure and mortality in patients with systemic lupus erythematous (SLE). It is critical to…Abstract Number: 1122 • ACR Convergence 2022
Short Peripheral Blood Leukocyte Telomere Length in Rheumatoid Arthritis – Interstitial Lung Disease
Background/Purpose: Shortened telomere lengths (TL) have been associated with interstitial lung disease (ILD), in particular idiopathic pulmonary fibrosis (IPF). Given the phenotypic overlap between IPF…Abstract Number: 1569 • ACR Convergence 2022
Lung Involvement in VEXAS Syndrome
Background/Purpose: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently identified disorder caused by somatic mutations in the UBA1 gene of myeloid cells.…Abstract Number: 2250 • ACR Convergence 2022
Genetic and Environmental Risk Factors in Rheumatoid Arthritis-Associated Interstitial Lung Disease
Background/Purpose: RA-associated interstitial lung disease (RA-ILD) is an extra-articular manifestation of RA causing substantial morbidity and mortality. Genetic risk variants, such as the MUC5B rs35705950…Abstract Number: 0340 • ACR Convergence 2022
Birth Order Is a Risk Factor for Systemic Lupus Erythematosus
Background/Purpose: Birth order effects have been described in several immune and non-immune disease states. While some studies have found an increased risk of developing autoimmune…Abstract Number: 1123 • ACR Convergence 2022
Excess of Rare Deleterious Variants Within JAK-STAT Pathway – Related Genes in Patients with Rheumatoid Arthritis Associated Interstitial Lung Disease
Background/Purpose: Interstitial lung disease (ILD) is a leading cause of morbidity and mortality in patients with RA. To date, there are no specific treatments available…Abstract Number: 1572 • ACR Convergence 2022
CD40, BLK and BANK1 in the Pathogenesis of Immunoglobulin-A Vasculitis
Background/Purpose: CD40 is a membrane glycoprotein expressed on B cells surface that activates antigen presenting cells [1]. BLK and BANK1 are components of B cells…Abstract Number: 0517 • ACR Convergence 2021
TPMT and NUDT15 Genotype and Azathioprine Myelotoxicity in Patients with Inflammatory Conditions: Results from Real-World Clinical Practice
Background/Purpose: Azathioprine is frequently used for the treatment of several inflammatory conditions. However, treatment is often limited by adverse events, in particular myelotoxicity. Both thiopurine-S-methyltransferase…Abstract Number: 1011 • ACR Convergence 2021
Validation of Bioinformatics Pipeline to Detect NEMO-Deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) and Preliminary Clinical and Immunologic Characterization
Background/Purpose: Splice site variants in IKBKG that lead to exon 5 deletion cause NEMO-deleted exon 5 autoinflammatory syndrome (NEMO-NDAS). NEMO-NDAS clinically mimics the interferonopathy chronic…Abstract Number: 0518 • ACR Convergence 2021
Predicted Expression of Genes Involved in the Thiopurine Metabolic Pathway Is Associated with Azathioprine Discontinuation Due to Bone Marrow Toxicity
Background/Purpose: Azathioprine is a thiopurine used to treat inflammatory conditions; however, it is often discontinued due to dose-dependent bone marrow toxicity. The Pharmacogenomics Knowledgebase (PharmGKB)…Abstract Number: 1019 • ACR Convergence 2021
Cigarette Smoking Induces Post-translational Protein Modifications in Both in Vitro and in Vivo Models of Rheumatoid Arthritis-associated Interstitial Lung Disease
Background/Purpose: Cigarette smoking has been epidemiologically linked to the development of ACPA+ rheumatoid arthritis (RA) and, by extension, RA-associated interstitial lung disease (RA-ILD). Providing strong…
- « Previous Page
- 1
- …
- 10
- 11
- 12
- 13
- 14
- …
- 26
- Next Page »