Familial cold autoinflammatory syndrome

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Wikipedia on Familial cold autoinflammatory syndrome (Less technical, ? quality control)

Familial cold autoinflammatory syndrome (FCAS, FCU, familial cold urticaria ) is a periodic syndrome (CAPS) associated with:

Treatment is with antibodies that block IL-1β such as rilonacept and canakinumab The genetic subtypes are:

  1. FCAS1 (OMIM:120100)
  2. FCAS2 (OMIM:611762)
    • mutation of NLRP12 gene at 19q13.42
  3. FCAS3 (PLCG2-associated antibody deficiency and immune dysregulation, PLAID, OMIM:614468)
    • heterozygous deletion within the PLCG2 gene at 16q23.3
  4. FCAS4 (OMIM:616115)
    • mutation of NLRC4 gene at 2p22