Cryopyrin-associated periodic syndromes
SONG Hong-mei
Abstract：Cryopyrin-associated periodic syndromes(CAPS),also known as cryopyrinopathy,includes three kinds of diseases:familial cold autoinflammatory syndrome (FCAS),Muckle-Wells syndrome (MWS) and neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurological cutaneous and articular syndrome (CINCA).CAPS are autosomal dominant disorders caused by mutations in the NLRP3 (NOD-like receptor 3,also named CIAS1),located in chromosomal position 1q44 and encoding the cryopyrin protein.The clinical characteristics of CAPS are recurrent systemic inflammation,manifested with fever,arthralgia and urticaria,and may affect multiple systems and organs,such as skin,muscles,bones,joints,eyes,ears and central nervous system (CNS).The severity of the 3 subtypes from mild to severe was FACS,MWS and NOMID/CINCA respectively.Interleukin (IL)-1 inhibitor could effectively control the progress of the disease,and should be applied as soon as possible after definite diagnosis.
Keywords：cryopyrin-associated periodic syndromes(CAPS)familial cold autoinflammatory syndrome(FCAS)Muckle-Wells syndrome(MWS)neonatal onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome(NOMID/CINCA)interleukin
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 11-13 )