Abstract
CAPS is a rare autoinflammatory disease associated with mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of IL-1beta and IL-18, and systemic inflammation. Mutations in the NLRP3 gene on chromosome 1q44 causes cryopyrinopathies. These are autosomal dominant disorders with varying penetrance, which may also present de novo. MWS is an intermediate phenotype characterized by chronic or intermittent episodes of fever, headache, urticarial rash, arthralgias or arthritis, CNS involvement, ocular disorders and progressive deafness. Treatment is based on IL-1 antagonism, which usually results in prompt clinical response and may prevent amyloidosis.
Highlights
CAPS is a rare autoinflammatory disease associated with mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of IL-1beta and IL-18, and systemic inflammation
Mutations in the NLRP3 gene on chromosome 1q44 causes cryopyrinopathies. These are autosomal dominant disorders with varying penetrance, which may present de novo
Treatment is based on IL-1 antagonism, which usually results in prompt clinical response and may prevent amyloidosis
Summary
CAPS is a rare autoinflammatory disease associated with mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of IL-1beta and IL-18, and systemic inflammation. Mutations in the NLRP3 gene on chromosome 1q44 causes cryopyrinopathies. These are autosomal dominant disorders with varying penetrance, which may present de novo. MWS is an intermediate phenotype characterized by chronic or intermittent episodes of fever, headache, urticarial rash, arthralgias or arthritis, CNS involvement, ocular disorders and progressive deafness. Treatment is based on IL-1 antagonism, which usually results in prompt clinical response and may prevent amyloidosis
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