Abstract Number: 1660 • ACR Convergence 2023
Still’s Disease Patients with High Interferon-stimulated Gene Expression Have Enrichment of Rare, de Novo and Recessive Protein Altering Variants in Innate Immune Pathways
Background/Purpose: Still’s disease (systemic juvenile idiopathic arthritis in children, adult-onset Still’s disease in adults) is an enigmatic inflammatory condition that affects people of all ages.…Abstract Number: 0055 • ACR Convergence 2023
Elevated LINE-1 Expression in SLE Keratinocytes Leads to LINE-1 Reverse Transcriptase-dependent Type I Interferon Responses
Background/Purpose: Long Interspersed Element-1 (LINE-1) are retrotransposable DNA elements that make up ~17% of the human genome, and their role in health and disease is…Abstract Number: 0891 • ACR Convergence 2023
Selective and Potent Inhibition of Cyclic GMP-AMP Synthase (cGAS) Fully Normalizes Autoinflammation Across Tissues in a Trex1-/- Mouse Model for Type I Interferonopathies
Background/Purpose: The cGAS enzyme is a sensor of cytosolic double-strand (ds) DNA. It serves to detect viruses and elicits an acute, transient cGAMP-STING mediated type…Abstract Number: 1664 • ACR Convergence 2023
Fibroblast Specific Interferon Regulatory Factor 7 (IRF7) Expression Is a Key Link Between Type I Interferon Activation and the Exaggerated Dermal and Pulmonary Fibrosis in Systemic Sclerosis
Background/Purpose: A prominent interferon (IFN) activation signature has been observed at the peripheral blood and end-organ levels in systemic sclerosis (SSc). However, the mechanisms by…Abstract Number: 0056 • ACR Convergence 2023
The Activation of cGAS-STING Pathway in Systemic Lupus Erythematosus
Background/Purpose: The majority of patients with SLE show a striking Type I Interferon (IFN-I) signature in their peripheral blood. Although this signature can be generated…Abstract Number: 0893 • ACR Convergence 2023
Involvement of Type I Interferon-responsive Myeloid Cells in Renal Inflammation in a Lupus Mouse Model
Background/Purpose: Systemic Lupus Erythematosus (SLE) is an autoimmune disease that can cause damage to multiple organs, including the kidneys in Lupus Nephritis (LN). Current treatments…Abstract Number: 1665 • ACR Convergence 2023
Endothelial Response to Type I Interferon Contributes to Vasculopathy and Fibrosis and Predicts Disease Progression of Systemic Sclerosis
Background/Purpose: Type I interferon (IFN-1) signature is a hallmark of patients with systemic sclerosis (SSc). However, its significance in clinical stratification and contribution to deterioration…Abstract Number: 0091 • ACR Convergence 2023
Impaired X-Chromosome Inactivation Maintenance in T Cells Is Associated with Features of Reduced Disease Severity in a Toll-Like Receptor 7-Driven Model of Systemic Autoimmunity
Background/Purpose: Many systemic autoimmune rheumatic diseases, including systemic lupus erythematosus (SLE), Sjögren's syndrome, and systemic sclerosis are highly female-biased. Although these diseases are more prevalent…Abstract Number: 0894 • ACR Convergence 2023
The Cellular and Spatial Type I Interferon Response Following Skin Exposure to Ultraviolet Light
Background/Purpose: SLE patients characteristically have a prominent type I interferon (IFN-I) signature in lesional and non-lesional skin. We recently demonstrated that, following a single exposure…Abstract Number: 1708 • ACR Convergence 2023
In Cis SOCS1 Variants Illustrate the Precise Regulation of Interferon Signaling Needed to Prevent Autoimmunity
Background/Purpose: Systemic autoimmunity can be driven by monogenic or polygenic risk variants. We aimed to characterize the genetic basis of disease in a family with…Abstract Number: 0093 • ACR Convergence 2023
Single Cell RNA-seq and Mass Cytometry Reveal a Cytotoxic CD8 Effector T Cell Population Associated with Interstitial Lung Disease in Systemic Sclerosis Patients
Background/Purpose: Interstitial lung disease (ILD) is a major cause of morbidity and mortality in systemic sclerosis (SSc). We aimed to identify features of circulating immune…Abstract Number: 0910 • ACR Convergence 2023
17β-estradiol and B-cell Intrinsic Type I Interferon Amplify Toll-like Receptor 7 Signaling Loop in B Cells of Female Lupus Prone BXD2 Mice
Background/Purpose: While systemic lupus erythematosus (SLE) disproportionally affects women versus men, elevation in estradiol (E2) alone is not sufficient to promote the development of autoantibody…Abstract Number: 1922 • ACR Convergence 2023
Use of Plasma with High Titer Neutralizing Autoantibodies to Type I Interferons in Patients with Severe Refractory Flare-up of Hidradenitis Suppurativa as Novel Passive Immunotherapy Approach: Trial Protocol
Background/Purpose: Hidradenitis suppurativa (HS) is a multifactorial auto-inflammatory disorder with a prevalence of 1% in North American and European populations. HS may be associated with…Abstract Number: 023 • 2023 Pediatric Rheumatology Symposium
Effect of Type 1 Interferons and JAK Inhibitors on Gene Expression in Bioengineered Pediatric Skeletal Muscle
Background/Purpose: Genetic studies of new-onset juvenile dermatomyositis (JDM) exhibit elevation of Type 1 interferons (IFN 1) IFNα and IFNβ in blood, skin, and muscle. To…Abstract Number: 075 • 2023 Pediatric Rheumatology Symposium
Emapalumab Treatment Followed by Hematopoietic Stem Cell Transplantation in Systemic Juvenile Idiopathic Arthritis Complicated by Recurrent Macrophage Activation Syndrome
Background/Purpose: Macrophage activation syndrome (MAS) is a life-threatening complication of different rheumatic diseases, particularly of systemic juvenile idiopathic arthritis (sJIA).Methods: We report the case of…
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