Abstract Number: 0461 • ACR Convergence 2020
High-Throughput Single-Cell Analysis Reveals Unique Lung Cellular Subsets in a Murine Model of Rheumatoid Arthritis-Inflammatory Lung Disease
Background/Purpose: Rheumatoid arthritis (RA)-associated inflammatory lung disease is an extra-articular manifestation of RA associated with increased morbidity and mortality, whose precise molecular mechanisms remain undetermined.…Abstract Number: 1164 • ACR Convergence 2020
Frequency of Genetic Diagnosis in an Autoinflammatory Disease Natural History Protocol Cohort of Patients
Background/Purpose: Monogenic autoinflammatory diseases (AID) are caused by innate immune dysregulation resulting in systemic inflammation and variable organ-specific clinical manifestations. The Translational Autoinflammatory Disease Section…Abstract Number: 0068 • ACR Convergence 2020
Single Cell RNA-seq to Characterize Monocyte Subtypes in the Autoinflammatory Interferonopathy, SAVI and the Inflammasomopathy, NOMID
Background/Purpose: Monocytes are pivotal producers of key inflammatory cytokines that drive autoinflammatory diseases. In SAVI, constitutive STING activation causes chronic activation with increased type-I IFN…Abstract Number: 0471 • ACR Convergence 2020
Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients
Background/Purpose: The Inhibitor of Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) is located on the X chromosome and encodes the NF-κB essential modulator (NEMO). Loss-of-function mutations…Abstract Number: 1323 • ACR Convergence 2020
Pregnancy in Axial Spondyloarthropathy: A Systematic Review & Meta-Analysis
Background/Purpose: Axial spondyloarthropathy (axSpA) is an inflammatory arthritis affecting the sacroiliac joints and the spine. Although this chronic condition affects a wide range of ages,…Abstract Number: 0078 • ACR Convergence 2020
Retrospective Analysis of Clinical Characteristics and Classification Criteria Performance in a Single Center Cohort of 114 Patients Diagnosed with IgG4-Related Disease
Background/Purpose: Immunoglobulin G4 Related Disease (IgG4-RD) is a fibroinflammatory condition that can involve almost any organ system. Diagnosis is made based on correlation of clinical,…Abstract Number: 0559 • ACR Convergence 2020
Low Frequency of ANA/DFS70 Pattern Positive Result in a Large Cohort of Autoimmune/autoinflammatory Diseases Compared with First Degree Relatives and Healthy Controls Evaluated in a Single Hospital from Colombia
Background/Purpose: Autoimmune systemic rheumatic disease (SARD) diagnostic approach is complex and recently there are some diagnostic tools to rule-out autoimmune disease diagnoses. ANAS/DFS70 antibodies have…Abstract Number: 1412 • ACR Convergence 2020
A T Cell Intrinsic Role for Nod2 in Suppression of Th17-Mediated Experimental Arthritis and Uveitis: Implications for Blau Syndrome
Background/Purpose: Mutations in nucleotide-binding oligomerization domain-containing protein 2 (NOD2) cause Blau syndrome, an inflammatory disorder characterized by uveitis, dermatitis, and polyarthritis. The antimicrobial functions of NOD2 are…Abstract Number: 0082 • ACR Convergence 2020
Diffuse Sclerosing Osteomyelitis of the Jaw: An Underdiagnosed Disease in Maxillofacial Surgery Department
Background/Purpose: Diffuse sclerosing osteomyelitis of the jaw is a rare and under-recognized disease. Many authors include this diagnosis in the spectrum of aseptic osteitis sometimes…Abstract Number: 0874 • ACR Convergence 2020
A Multi-Center, Randomized, Double-blind, Placebo-controlled Dose-ranging Study Evaluating Efficacy and Safety of SHR-1314 in Subjects with Moderate-to-Severe Plaque Psoriasis
Background/Purpose: SHR-1314 is a humanized monoclonal immunoglobulin (IgG1/κ isotype) targeting human interleukin-17A (IL-17A). Preliminary data from phase I study has shown that single dose of…Abstract Number: 1413 • ACR Convergence 2020
An Imbalance Between Regulatory and Inflammatory T Cell Subsets Distinguishes Systemic Autoimmune Rheumatic Disease Patients from Asymptomatic ANA+ Individuals
Background/Purpose: The anti-nuclear antibody (ANA)-associated systemic autoimmune rheumatic diseases (SARDs) are characterized by a prolonged preclinical phase in which ANAs are produced in the absence…Abstract Number: 0083 • ACR Convergence 2020
Chronic Nonbacterial Osteomyelitis Is Associated with HLA-B*27
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an auto-inflammatory condition primarily affecting children with an estimated prevalence of 1 per 105 - 106. It is characterized…Abstract Number: 0947 • ACR Convergence 2020
STING Gain-of-Function in Radio-resistant Cells Supports a Lymphocyte Dependent Auto-inflammatory Lung Disease
Background/Purpose: cGAS-STING is a cytosolic dsDNA sensing pathway whose regulation is vital to immune homeostasis. Pediatric patients with constitutively active STING mutations develop an autoinflammatory…Abstract Number: 1455 • ACR Convergence 2020
Functional Characterization of PLCG2 Mutations Found in Subjects with Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) Reveals Both Hypermorphic and Hypomorphic Mutants
Background/Purpose: PLCG2-associated antibody deficiency and immune dysregulation (PLAID) and autoinflammatory PLAID (APLAID) are autosomal dominant diseases caused by mutations of PLCG2. APLAID is clinically characterized by episodic…Abstract Number: 0095 • ACR Convergence 2020
Systematic Evaluation of Nine Monogenic Autoinflammatory Diseases Reveals Common and Disease-Specific Correlations with Allergy-Associated Features
Background/Purpose: Monogenic autoinflammatory diseases (AID) are caused by mutations in innate immune signaling genes. The effect of these mutations on the risk of allergy is…
ACR Meeting Abstracts