Variant: rs121908152 

    present in Gene: NLRP3
    present in Chromosome: 1
    Position on Chromosome: 247425167
    Alleles of this Variant: T/C

rs121908152 in NLRP3 gene and Chronic Infantile Neurological, Cutaneous, and Articular Syndrome PMID 12483741 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.

PMID 15334500 2004 Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.

PMID 14630794 2004 Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

PMID 24952504 2014 The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.

PMID 15593220 2004 Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.

PMID 15231984 2004 A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy.

PMID 12032915 2002 Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.