Abstract Number: 2423 • 2016 ACR/ARHP Annual Meeting
Differential Interferon Score Expression in the Peripheral Blood in Mendelian Inflammatory Interferonopathies Versus Juvenile Dermatomyositis (JDM) Subtyped By Myositis Autoantibodies and Disease Activity
Background/Purpose: JDM is a complex autoimmune disease with an interferon (IFN) signature, with a reported correlation with disease activity. Clinical features vary among myositis-specific autoantibody…Abstract Number: 2429 • 2016 ACR/ARHP Annual Meeting
Mechanisms for the Development of Lung Fibrosis in Sting-Associated Vasculopathy with Onset in Infancy (SAVI)
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is a monogenic autoinflammatory interferonopathy caused by gain-of-function mutations in TMEM173/STING, a nucleic acid sensor adaptor linked…Abstract Number: 2430 • 2016 ACR/ARHP Annual Meeting
Mutations in the Tyrosine-Protein Kinase Lyn Cause an Early-Onset Neutrophilic Vasculitis Syndrome
Background/Purpose: Tyrosine-protein kinase Lyn is a Src-family tyrosine kinase expressed by hematopoietic and non-hematopoietic cell types. Phosphorylation of a tyrosine residue at position 508 renders…Abstract Number: 2433 • 2015 ACR/ARHP Annual Meeting
Anti Interferon-Gamma (IFNg) Monoclonal Antibody Treatment in a Child with NLRC4-Related Disease and Severe Hemophagocytic Lymphohistiocytosis (HLH)
Background/Purpose: Animal and humans data suggest that IFNγ plays a pathogenic role in HLH. A pilot trial in primary HLH with NI-0501, an anti-IFNγ monoclonal…Abstract Number: 2465 • 2015 ACR/ARHP Annual Meeting
Cytokine Profile Comparison of Monogenic and Complex Conditions with Interferon-Regulated Gene Signatures in Chronic Atypical Neutrophilic Dermatosis with Lipodsytrophy and Elevated Temperature (CANDLE), SAVI, Aicardi-Goutieres Syndrome, JDM, and SLE
Background/Purpose: An Interferon (IFN) Regulated Gene Signature (IRS) was previously reported in patients with two complex autoimmune diseases, juvenile systemic lupus (JSLE)1 and juvenile dermatomyositis…Abstract Number: 3093 • 2015 ACR/ARHP Annual Meeting
Development and Validation of Diagnostic Criteria for Cryopyrin Associated Periodic Syndromes
Background/Purpose: Cryopyrin Associated Periodic Syndromes (CAPS) are a rare, clinically heterogeneous group of devastating inflammatory illnesses. NLRP3gene gain-of function mutations result in unceasingly raised IL1…Abstract Number: 3094 • 2015 ACR/ARHP Annual Meeting
Dose Adjustment of Anakinra (Kineret®) Based on Clinical Response in Patients with Severe Cryopyrin-Associated Periodic Syndromes
Background/Purpose: Cryopyrin-Associated Periodic Syndromes (CAPS) include a group of rare inherited autoinflammatory diseases consisting of Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome and the most…Abstract Number: 112 • 2015 ACR/ARHP Annual Meeting
The Molecular Genetic Analysis of the Autoinflammatory Syndromes in Russian Patients with Manifestation of Systemic Juvenile Idiopathic Arthritis
Background/Purpose: Group of monogenic autoinflammatory syndromes is characterized by recurrent episodes of fever and inflammation. Methods: The study included 90 pts (37 boys, 63 girls)…Abstract Number: 246 • 2015 ACR/ARHP Annual Meeting
Adult Autoinflammatory Disease Frequency and Our Diagnostic Experience in an Adult Autoinflammatory Clinic
Background/Purpose: Autoinflammatory diseases (AIDs), aka, periodic fever syndromes include monogenic diseases, such as familial Mediterranean fever (FMF), cryopyrin-associated periodic disease (CAPS), tumor necrosis factor receptor-associated…Abstract Number: 248 • 2015 ACR/ARHP Annual Meeting
Efficacy and Safety of Canakinumab in Patients with CAPS Aged <24 Months: Results from an Open-Label, Multicenter, Phase III Trial
Background/Purpose: Canakinumab (CAN) is indicated for the treatment of cryopyrin-associated periodic syndrome (CAPS) in patients aged ≥2 years.1,2 However, the efficacy of CAN has not…Abstract Number: 250 • 2015 ACR/ARHP Annual Meeting
Postvaccination Antibody Titer Data in CAPS Patients Aged 28 Days to 4 Years Treated with Canakinumab: Results of an Open-Label Phase 3 Trial
Background/Purpose: Patients with autoinflammatory diseases treated with immunosuppressive agents reportedly experience an increased risk of serious infections.1 Therefore, these patients are likely candidates for vaccinations,…Abstract Number: 252 • 2015 ACR/ARHP Annual Meeting
Pyrin (MEFV) Mutations in New York: Revisiting the Mount Sinai Experience with Periodic Fever and Serositis
Background/Purpose: In 1945, Dr. Sheppard Siegel, a Mount Sinai allergist, described 5 patients with “Benign Paroxysmal Peritonitis,” a disorder now recognized as Familial Mediterranean Fever…Abstract Number: 937 • 2015 ACR/ARHP Annual Meeting
Safety and Efficacy of Canakinumab in Patients with CAPS: Interim Results from the Beta-Confident Registry
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS), is a rare autoinflammatory disease encompassing a spectrum of 3 phenotypes with an estimated population frequency ranging from 1-3 per…Abstract Number: 1025 • 2015 ACR/ARHP Annual Meeting
Interstitial Lung Disease in Sting-Associated Vasculopathy with Onset in Infancy (SAVI): Genotype-Phenotype Correlation
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is an IFN-mediated disease caused by gain-of-function mutations in TMEM173, the gene encoding the stimulator of interferon…Abstract Number: 1360 • 2015 ACR/ARHP Annual Meeting
Functional Consequences of NOD2 Gene Variants in Patients with NOD2-Associated Autoinflammatory Disease
Background/Purpose: Yao Syndrome (YS) is a systemic autoinflammatory disease formerly termed Nucleotide-binding oligomerization domain 2 (NOD2)-associated AutoInflammatory Disease (NAID) due to its association with specific…
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