CINCA syndrome is an autosomal dominant disorder caused by mutations of the NLRP3 gene. It is characterized by neonatal-onset chronic multisystemic inflammation involving skin, joints, and central nervous system.
As with all cryopyrin-associated periodic syndromes, interleukin-1 antagonism is effective in both management of acute inflammatory attacks and prevention of amyloidosis.
|Cryopyrin-associated periodic syndrome|
|Familial cold autoinflammatory syndrome 1|
Feldmann J et al. (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.[^]
Aksentijevich I et al. (2002) De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.[^]
Leone V et al. (2003) Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease.[^]
Boschan C et al. (2006) Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment.[^]
Torbiak RP et al. (1989) NOMID--a neonatal syndrome of multisystem inflammation.[^]
Hassink SG et al. (1983) Neonatal onset multisystem inflammatory disease.[^]
Prieur AM et al. (1981) Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation.[^]
OMIM.ORG articleOmim 607115 [^]
Orphanet articleOrphanet ID 1451 [^]
Wikipedia articleWikipedia EN (Neonatal-onset_multisystem_inflammatory_disease) [^]