Familial cold autoinflammatory syndrome

{
  "id": "MLC-T-CHM-004335",
  "term": "Familial cold autoinflammatory syndrome",
  "field": "Chemistry",
  "definition": "A rare, inherited autoinflammatory disease characterized by recurrent episodes of fever, rash, and joint pain triggered by exposure to cold temperatures. This condition is caused by mutations in the CIAS1 gene, leading to overactivation of the inflammasome. It is a type of cryopyrin-associated periodic syndrome.",
  "subject": "Chemistry and Human Health",
  "see_also": [
    "autoinflammatory disease",
    "NACHT domain-, leucine-rich repeat (LRR)-, and pyrin (N-terminal homology) domain (PYD)-containing protein 3"
  ],
  "references": [
    "PAC, 2012, 84, 1113. 'IUPAC glossary of terms used in immunotoxicology (IUPAC Recommendations 2012)' on page 1165 (https://doi.org/10.1351/PAC-REC-11-06-03)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/familial-cold-autoinflammatory-syndrome/"
}