Abstract Number: 1817 • ACR Convergence 2023
Geographic Variability of Inflammatory Bowel Disease Related Mortality, 1999-2019; CDC WONDER
Background/Purpose: The United States makes a significant contribution to Inflammatory Bowel Disease (IBD) related disease burden worldwide. However, data on geographic variability of IBD related…Abstract Number: 2058 • ACR Convergence 2023
IL-1 Blocking Treatment Slows the Progression of Sensorineural Hearing Loss in Patients with NOMID
Background/Purpose: NOMID is a severe form of cryopyrin-associated periodic syndrome characterized by systemic inflammation and CNS manifestations, including sensorineural hearing loss. IL-1 blocking agents, Anakinra…Abstract Number: 077 • 2023 Pediatric Rheumatology Symposium
Clinical Characteristics of Chronic Recurrent Multifocal Osteomyelitis or Chronic Nonbacterial Osteomyelitis in Pediatrics; Single Center Study in Korea
Background/Purpose: CRMO is an autoinflammatory bone disease which has a recurrent bone pain as a symptom. It causes problems in various organs, including joints, skin,…Abstract Number: 078 • 2023 Pediatric Rheumatology Symposium
Periodic Fever Syndrome and Myelodysplastic Syndrome: Possible Connections Between Two Disorders
Background/Purpose: Background: associations between autoimmune, immunodeficiency and hematological disorders are well known as well as with autoinflammatory conditions. Modern genetic testing allows to link these…Abstract Number: 121 • 2023 Pediatric Rheumatology Symposium
The Effectiveness of Tonsillectomy in Periodic Fever, Aphthous Ulcer, Pharyngitis, and Adenitis Syndrome in Pediatric Patients
Background/Purpose: Periodic Fevers with Aphthous Ulcers, Pharyngitis, and Adenitis Syndrome (PFAPA Syndrome) is the most common pediatric periodic fever syndrome. The most recent diagnostic criteria…Abstract Number: 127 • 2023 Pediatric Rheumatology Symposium
What’s in a Name? A20 Protein Expression in an in Vitro Model of A20 Haploinsufficiency
Background/Purpose: Tumor necrosis factor alpha (TNF-alpha) induced protein 3 gene, or TNFAIP3, encodes the A20 protein, an important regulator of the NF-κB pathway. Since its…Abstract Number: 032 • 2023 Pediatric Rheumatology Symposium
From Bedside to Bench and Back: Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes with Hearing Loss as the Primary Presentation, Responsive to Anti-IL1 Therapy
Background/Purpose: Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of rare autoinflammatory diseases caused by gain-of-function mutations inthe NLRP3 gene. These mutations cause inflammasome hyperactivity and…Abstract Number: 036 • 2023 Pediatric Rheumatology Symposium
Predictive Factors of Long-lasting Remission Following Anakinra Withdrawal in Patients with Systemic Juvenile Idiopathic Arthritis After Achievement of Clinical Inactive Disease
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a rare autoinflammatory disease of unknown etiology. Several uncontrolled studies showed that early treatment with anakinra is associated…Abstract Number: 044 • 2023 Pediatric Rheumatology Symposium
Validation of Newly Proposed Classification Criteria for Pediatric Chronic Nonbacterial Osteomyelitis: A Virginia Cohort
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an aseptic autoinflammatory bone disease of unknown etiology. This diagnosis can be delayed due to the non-specific nature of…Abstract Number: 059 • 2023 Pediatric Rheumatology Symposium
Update of Clinical and Laboratory Features of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease (SJIA-LD) Cohort
Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) associated lung disease (SJIA-LD) is an emerging and life-threatening clinical problem. Despite recent advances, there remain key unanswered questions…Abstract Number: 068 • 2023 Pediatric Rheumatology Symposium
Outcomes of Children with Uveitis Associated with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV)
Background/Purpose: Pediatric uveitis is commonly associated with rheumatic disease and can lead to sight-threatening complications if not properly treated. Systemic immunomodulatory therapy has dramatically changed…Abstract Number: 0010 • ACR Convergence 2022
The Inflammation Induced by Monosodium Urate and Calcium Pyrophosphate Crystals Depends on Osmolarity and Aquaporin Channels
Background/Purpose: The inflammation induced by monosodium urate (MSU) and calcium pyrophosphate (CPP) crystals is driven by interleukin (IL)-1β production. This later relies on NLRP3 inflammasome…Abstract Number: 0567 • ACR Convergence 2022
Gain-of-Function Mutations in Lyn Kinase Cause a Novel Autoinflammatory Disease with Small Vessel Vasculitis and Liver Fibrosis
Background/Purpose: Lyn kinase is a member of the Src family of tyrosine kinases that regulates innate and adaptive immune responses. Lyn C-terminal tail tyrosine residue,…Abstract Number: 1240 • ACR Convergence 2022
A Systematic Review and Meta-Analysis of Diagnostic Test Accuracy for the Diagnosis of Cardiac Sarcoidosis
Background/Purpose: Autopsy reports for patients with sarcoidosis have suggested that up to 25% have cardiac involvement, mostly undiagnosed. Given the limited diagnostic accuracy of endomyocardial…Abstract Number: 1931 • ACR Convergence 2022
NOD2 Mutations Are Associated with Upregulated Type 1 Interferon Gene Expression and Development of Granulomatous Hepatitis in Children with Autoimmune Hepatitis
Background/Purpose: Mutations in the gene NOD2 encoding the nucleotide-binding oligomerization domain-containing protein 2 (NOD2) which controls innate responses to LPS have been linked to Blau…
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