Abstract
Autoinflammatory diseases (AIDs) are characterized by recurrent episodes of systemic and organ-specific inflammation. If unrecognized and untreated, they may cause significant morbidity and mortality. Our understanding and management of these disorders has improved markedly over the last decade. Nevertheless, the majority of children with periodic fevers do not have mutations in known periodic fever syndrome genes. Even in patients with known mutations, the clinical phenotype may vary greatly, likely as a result of the environment. Given the rarity of AIDs, registries of patients with these disorders have been established in some countries. The Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry is a multicenter, observational database of North American children with rheumatic diseases, including those with AIDs. Patients with defined rheumatic diseases who are 21 years of age or younger and are seen at a CARRA site are eligible to enroll. This study is the first report of patients with AIDs within this registry.
Highlights
Autoinflammatory diseases (AIDs) are characterized by recurrent episodes of systemic and organ-specific inflammation
We conducted a cross-sectional study of children and adolescents with AIDs enrolled in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry
As of March 1, 2013, 7,931 patients were enrolled in the CARRA database
Summary
Autoinflammatory diseases (AIDs) are characterized by recurrent episodes of systemic and organ-specific inflammation. Our understanding and management of these disorders has improved markedly over the last decade. The majority of children with periodic fevers do not have mutations in known periodic fever syndrome genes. Even in patients with known mutations, the clinical phenotype may vary greatly, likely as a result of the environment. Given the rarity of AIDs, registries of patients with these disorders have been established in some countries. The Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry is a multicenter, observational database of North American children with rheumatic diseases, including those with AIDs. Patients with defined rheumatic diseases who are 21 years of age or younger and are seen at a CARRA site are eligible to enroll. This study is the first report of patients with AIDs within this registry
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