Abstract Number: 1157 • ACR Convergence 2020
Health and Socioeconomic Outcomes in a Neonatal-Onset Multisystem Inflammatory Disease (NOMID) Cohort Followed for a Median of Fifteen Years
Background/Purpose: Patients (pts) with NOMID have systemic inflammation and organ damage such as sensorineural hearing loss, hydrocephalus, optic nerve atrophy and growth plate defects. IL-1 blocking…Abstract Number: 1855 • ACR Convergence 2020
Elevated Calprotectin Levels Reveal Loss of Vascular Pattern and Atrophy of Villi in Ileum Using Digital Chromo-endoscopy and Magnification Colonoscopy in Patients with Spondyloarthritis Without Inflammatory Bowel Disease
Background/Purpose: Fecal calprotectin (FC) is a well bio-marker related to mucosal inflammation. Digital chromo-endoscopy (DCE) with magnification is a technique to identify microscopic inflammation. The…Abstract Number: 0172 • ACR Convergence 2020
Early Treatment and IL1RN Single Nucleotide Polymorphisms Affect Response to Anakinra in Systemic Juvenile Idiopathic Arthritis
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) represents 10-20% of all chronic arthritis during childhood. The interleukin 1 (IL-1) play a pivotal role in the pathogenesis…Abstract Number: 1158 • ACR Convergence 2020
Clinical Features and Outcomes in STING-Associated Vasculopathy with Onset in Infancy (SAVI)
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is an autoinflammatory interferonopathy caused by gain-of-function mutations in STING1, characterized by peripheral vasculopathy and interstitial lung…Abstract Number: 1950 • ACR Convergence 2020
Elevated Serum Gasdermin D N-terminal Implicates Macrophage Pyroptosis in Adult-onset Still’s Disease and Systemic Juvenile Idiopathic Arthritis
Background/Purpose: Elevation of serum IL-18 in adult-onset Still's disease (AOSD) and systemic juvenile idiopathic arthritis (sJIA) suggests involvement of one or more inflammasome in these…Abstract Number: 0174 • ACR Convergence 2020
Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe, potentially lethal inflammatory condition. It accounts for a disproportionate share of morbidity and mortality among childhood…Abstract Number: 1159 • ACR Convergence 2020
Novel STING1 Mutations Including in the Transmembrane Linker Region Cause STING-associated Vasculopathy with Onset in Infancy (SAVI)
Background/Purpose: STING-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory disease caused by gain-of-function (GOF) mutations in STING1/TMEM173 that encodes stimulator of interferon genes,…Abstract Number: 1953 • ACR Convergence 2020
Somatic Mutations in a Single Residue of UBA1 Cause VEXAS, a Severe Adult-Onset Rheumatic Disease Presenting as Relapsing Polychondritis, Polyarteritis Nodosa, or Giant Cell Arteritis
Background/Purpose: Identifying the causes of adult-onset rheumatic diseases remains a challenge, and limits diagnosis, prognosis, and targeted treatment. We hypothesized that mutations in genes regulating…Abstract Number: 0176 • ACR Convergence 2020
Characterization and Molecular Mechanism Underlying NEMO Deleted Exon 5 Autoinflammatory Syndrome (NDAS)
Background/Purpose: The NF-kB essential modulator (NEMO) is a scaffolding protein with a broad immune cell and tissue expression profile. Hypomorphic mutations in IKBKG encoding NEMO…Abstract Number: 1160 • ACR Convergence 2020
Treatment Intensity and Impact on Bone Lesion Evolution and Distribution Patterns in Severe Chronic Recurrent Multifocal Osteomyelitis
Background/Purpose: To compare bone lesion evolution and bone lesion distribution patterns identified by whole body magnetic resonance imaging (WB-MRI) by treatment intensity in patients with…Abstract Number: 0282 • ACR Convergence 2020
Expression of the cGAMP Transporter SLC19A1 Is Altered in Systemic Lupus Erythematosus
Background/Purpose: Inappropriate sensing of nucleic acids leading to enhanced type I interferon (IFN) induction is a hallmark of SLE, contributing to breakdown of immune tolerance…Abstract Number: 1161 • ACR Convergence 2020
Perspectives of Radiologist Physicians in the Imaging of Chronic Nonbacterial Osteomyelitis
Background/Purpose: Radiological imaging is integral to the diagnosis of chronic nonbacterial osteomyelitis (CNO) and has been included as a central component in suggested diagnostic criteria…Abstract Number: 0453 • ACR Convergence 2020
Monitoring of BK Reactivation and Long-term Safety on JAK1/2 Inhibition with Baricitinib
Background/Purpose: Baricitinib has been used to treat pediatric patients (pts) with Type 1 Interferonopathies1. Safety profile including BK viral reactivation in urothelium and pharmacokinetic model…Abstract Number: 1163 • ACR Convergence 2020
Predictors of Colchicine Response in Patients with Undefined Systemic Autoinflammatory Diseases
Background/Purpose: Systemic autoinflammatory diseases (SAIDs) result from dysregulation of the innate immune system. Many patients with SAIDs have specific mutations that lead to the release…Abstract Number: 803 • 2019 ACR/ARP Annual Meeting
Hepatitis a Virus Vaccination in Autoinflammatory Diseases Under Canakinumab and Tocilizumab Treatment
Background/Purpose: Autoimmune, autoinflammatory mechanism and drugs used in treatment increase the risk of liver disease in patients with chronic rheumatic diseases. Hepatitis A vaccine is…
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