Abstract Number: 894 • 2013 ACR/ARHP Annual Meeting
Intermittent Fever, Immune Dysregulation, and Systemic Vasculopathy Due To Loss-Of-Function Mutations In Adenosine Deaminase2
Background/Purpose: We observed a syndrome characterized by intermittent fevers and livedoreticularis, systemic inflammation, hepatosplenomegaly, cytopenias, vasculopathy, and early-onset lacunar strokes in five unrelated patients. We…Abstract Number: 2273 • 2013 ACR/ARHP Annual Meeting
Patient Survey Challenges Conventional Notions Regarding Symptoms and Experiences Of People Living With Rheumatoid Arthritis
Background/Purpose: While rheumatoid arthritis (RA) has been studied for decades, many aspects of the disease are not well understood. Like systemic lupus erythematosus, RA manifests…Abstract Number: 2024 • 2012 ACR/ARHP Annual Meeting
Articular Symptoms in Cryopyrin-Associated Periodic Syndrome: Retrospective French Study
Background/Purpose: The cryopyrin-associated periodic syndrome (CAPS) is a rare inherited inflammatory disease associated with a mutation in the NLRP3 gene. Articular symptoms are often described…Abstract Number: 2025 • 2012 ACR/ARHP Annual Meeting
Clinical Characteristics and Therapy Response in a Large Single-Centre Cohort of Patients with Periodic Fever with Aphtous Stomatitis, Pharyngitis and Cervical Adenitis Syndrome
Background/Purpose: PFAPA (Period Fever with Aphtous stomatitis, Pharyngitis and cervical Adenitis), is a periodic syndrome described for the first time in 1987 by Marshall et…Abstract Number: 189 • 2012 ACR/ARHP Annual Meeting
Pedal Swelling As a Characteristic Phenotype of the New Category of Autoinflammatory Disease Associated with NOD2 Gene Mutations
Background/Purpose: Autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high titer autoantibodies or antigen specific T cells, and derive from genetic variants…