Abstract Number: L01 • ACR Convergence 2023
Analysis of 245,388 Diverse Participants in the NIH All of Us Cohort Identifies VEXAS Resiliency in UBA1 M41L Somatic Mutation Carriers
Background/Purpose: VEXAS syndrome is a recently-discovered systemic auto-inflammatory disease caused by somatic mutation at position 41 in the X-linked gene UBA1.1 First, 25 older men…Abstract Number: L03 • ACR Convergence 2023
Efficacy and Safety of Targeted Therapies in VEXAS Syndrome: Retrospective Study from the French VEXAS Group
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a monogenic disease of adults due to acquired somatic mutations of the UBA1 gene. Patients…Abstract Number: 0006 • ACR Convergence 2023
Preclinical Characterization of a Novel anti-CD40 Antagonist Antibody-glucocorticoid Conjugate with Superior Preclinical Efficacy and Favorable Safety Profile
Background/Purpose: Glucocorticoids (GCs) are the first-line anti-inflammatory treatment for many autoimmune diseases, but long-term systemic administration of GCs is associated with unwanted side effects, which…Abstract Number: 0275 • ACR Convergence 2023
No Cumulative Effect of Infection Rates in Children Receiving Long-term Canakinumab Treatment in Autoinflammatory Periodic Fever Syndromes − Data from the RELIANCE Registry
Background/Purpose: Autoinflammatory diseases (AID) have been treated safely and effectively with the interleukin-1β inhibitor canakinumab (CAN) in controlled trials and routine clinical practice. The most…Abstract Number: 1136 • ACR Convergence 2023
Challenges in Diagnosing VEXAS Syndrome: Delayed Diagnosis, Misdiagnosis, and Associations with Specific Gene Mutations
Background/Purpose: The newly described VEXAS syndrome is a very heterogenous disease with rheumatologic and hematologic manifestations, caused by somatic mutations affecting UBA1 gene, that still…Abstract Number: 1921 • ACR Convergence 2023
Clinical Spectrum of VEXAS Syndrome in a Rheumatology Department
Background/Purpose: VEXAS (vacuoles, E1 activating enzyme, X-linked, auto-inflammatory, somatic) syndrome is a clinically serious and potentially fatal adult-onset disease caused by somatic mutations in the…Abstract Number: 2519 • ACR Convergence 2023
A Phase II Clinical Study to Investigate the Efficacy and Safety of Hemay005 Tablets in Patients with Active Behçet`sDisease
Background/Purpose: Behçet's disease (BD) is a chronic and recurrent vascular inflammatory disease with major manifestations including oral ulcers, genital ulcers, skin damage and ophthalmitis, and…Abstract Number: 0028 • ACR Convergence 2023
Adenosine Deaminase 2 Is Expressed as a Short Isoform Lacking Deaminase Activity in the Endothelium: Implications for DADA2 Vasculitis
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive condition caused by biallelic variants in the Adenosine deaminase 2 (ADA2) gene. Clinical manifestations…Abstract Number: 0276 • ACR Convergence 2023
Disease Control in Patients with Monogenetic Autoinflammatory Diseases Under Canakinumab Treatment – Comparison of 30 Months Interim Data from the RELIANCE Registry
Background/Purpose: Treatment of autoinflammatory periodic diseases (AID) with the interleukin-1β inhibitor canakinumab (CAN) has been shown to be safe and effective in controlled trials and…Abstract Number: 1139 • ACR Convergence 2023
From Skin to Bone Lesions: A Pioneer Study Unraveling the Underdiagnosis of SAPHO Syndrome in the Dominican Republic
Background/Purpose: SAPHO syndrome is a rare chronic inflammatory condition that affects the skin and osteoarticular structures. Despite being first described over 30 years ago, it…Abstract Number: 1925 • ACR Convergence 2023
Importance of the Patient Pain Experience in Disease Activity Assessment in the Adult SAPHO and Chronic Nonbacterial Osteomyelitis Study
Background/Purpose: Musculoskeletal pain is a key symptom experienced by patients with SAPHO and chronic nonbacterial osteomyelitis (SAPHO-CNO), yet its relation to disease activity assessment remains…Abstract Number: 2570 • ACR Convergence 2023
Thrombosis in Patients with VEXAS Syndrome: A Retrospective Cohort Study
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, due to somatic mutations in the UBA1 gene, is an autoinflammatory disorder associated with an increased…Abstract Number: 0039 • ACR Convergence 2023
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a complex inflammatory condition of childhood. It can be complicated by macrophage activation syndrome (MAS), a secondary form…Abstract Number: 0278 • ACR Convergence 2023
NOD2 Genotyping Landscape in Yao Syndrome
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. This study…Abstract Number: 1146 • ACR Convergence 2023
Gene X Environment Paradigm: Exemplified by Selected Cases of Autoinflammatory Diseases
Background/Purpose: The current scientific opinion holds that gene and environment (G X E) interactions contribute to certain human diseases. Systemic autoinflammatory diseases (SAIDs) are usually…
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