Condition: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome


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.