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: 0921 • ACR Convergence 2024
Deep Immunologic Profiling of Trisomy 8-associated Autoinflammatory Disease (TRIAD)
Background/Purpose: Trisomy 8 mosaicism is associated with an inflammatory disease characterized by recurrent fever and oral, genital, and gastrointestinal ulcers, resembling Behçet’s disease. Little is…Abstract Number: 1621 • ACR Convergence 2024
Analysis of Hospitalizations of Adult Patients with Kawasaki’s Disease: A United States Population Based Study
Background/Purpose: Kawasaki disease (KD) is a systemic vasculitis, typically affecting young children, and is the leading cause of acquired heart disease in children in developed…Abstract Number: 2028 • ACR Convergence 2024
Therapeutic Insights in VEXAS Syndrome from a Multicenter Study in Spain: Moving Towards Amore Specific and Effective Treatment
Background/Purpose: Nearly four years since its characterization, management and therapeutic algorithms for VEXAS syndrome remain unclear. This study aims to describe treatment approaches and assess…Abstract Number: 2503 • ACR Convergence 2024
Hypothalamic-Pituitary-Adrenal Axis Suppression by Prednisolone Reversed by the 11β-Hydroxysteroid Dehydrogenase Type 1 Inhibitor Clofutriben
Background/Purpose: Approximately 1% of the population rely on chronic glucocorticoid (GC) prescription to control autoimmune and inflammatory conditions. Risk of GC induced adrenal insufficiency (GC-AI)…Abstract Number: 0305 • ACR Convergence 2024
Inflammatory T Cell Expansion in Yao Syndrome
Background/Purpose: Yao syndrome (YAOS, #OMIM 617321), formerly known as nucleotide-binding oligomerization protein containing 2 (NOD2)-associated autoinflammatory disease, is associated with specific NOD2 mutations and affects…Abstract Number: 0922 • ACR Convergence 2024
Generation and Pathophysiological Analysis of M694I Variant Knock-in Mice of Human MEFV Gene: Insights from Single-Cell RNA Sequencing
Background/Purpose: The primary objective of this study was to generate knock-in mice with the M694I variant of the human MEFV gene, a critical variant in…Abstract Number: 1705 • ACR Convergence 2024
Deep Phenotyping Characterization of Peripheral Natural Killer Cells Reveals Impaired Cytotoxicity and Exhaustion During VEXAS Syndrome
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a severe auto-inflammatory disorder associated with acquired mutations in the UBA1 gene that occur in hematopoietic stem cells…Abstract Number: 2030 • ACR Convergence 2024
The Development of the EULAR Score for the Definition of Disease Activity in Adult-onset Still’s Disease; The “DAVID” Project
Background/Purpose: Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder of unknown aetiology usually affecting young adults. Despite the evidence increasingly reporting the efficacy…Abstract Number: 2509 • ACR Convergence 2024
Bone Marrow Failure in VEXAS Is Associated with the Degree of UBA1b Deficiency
Background/Purpose: VEXAS is a multisystem autoinflammatory disorder due to somatic mutations in UBA1. The disease is characterized by ineffective hematopoiesis with increased risk of transfusion…Abstract Number: 0316 • ACR Convergence 2024
Development and Evaluation of the Adult-onset Still’s Disease Activity Index Based on Whole RNA-seq Analysis: A Novel Approach Independent of Tocilizumab Treatment
Background/Purpose: Tocilizumab (TCZ), an anti-IL-6 receptor antibody, has been shown to be effective in the treatment of adult-onset Still's disease (AOSD), a systemic inflammatory disease.…Abstract Number: 0925 • ACR Convergence 2024
Macrophages Produce Bone Anabolic Factors in Settings of Inflammation-Induced Bone Formation
Background/Purpose: Understanding the pathogenesis of inflammation-induced pathologic bone formation remains a significant challenge in spondyloarthritis patients. We thought to uncover the pivotal events driving the…Abstract Number: 1706 • ACR Convergence 2024
Multi-omic Study in Patients with SITRAME Syndrome
Background/Purpose: The SITRAME syndrome (Systemic Inflammatory Trunk Recurrent Acute Macular Eruption) is a newly described inflammatory entity affecting adult patients with no family history (Soria…Abstract Number: 2032 • ACR Convergence 2024
A Systematic Review of Treatment Strategies in VEXAS Syndrome
Background/Purpose: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, first described in 2020, is an autoinflammatory condition characterized by somatic mutations in the UBA1 gene.…Abstract Number: 2569 • ACR Convergence 2024
A Novel Hyperferritinemia Screen to Aid Differentiation of Hyperinflammatory Disorders
Background/Purpose: High ferritin is an important and sensitive biomarker for the diverse and deadly group of cytokine storm syndromes grouped together under the term hemophagocytic…
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