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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Hereditary Autoinflammatory Diseases > Cryopyrin-Associated Periodic Syndromes
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Hereditary Autoinflammatory Diseases > Cryopyrin-Associated Periodic Syndromes

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Cryopyrin-Associated Periodic Syndromes  

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Tipo

  • mesh:Descriptor

Definición

  • A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Cryopyrin Associated Periodic Syndrome
  • Cryopyrinopathy

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-TX9LZ93H-B

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RDF/XML TURTLE JSON-LD Creado 6/7/09, última modificación 30/6/21