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.
Pozri aj (FX) v slov.
NLRP3 proteín
Pozri aj (FX) v angl.
NLR Family, Pyrin Domain-Containing 3 Protein
Odkazy
(23) - ČLÁNKY
(1) - heslo MeSH
(3) - CiBaMed
predmetové heslo
Počet záznamov: 1
openseadragon
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