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familial cold autoinflammatory syndrome (FCAS)

Epidemiology: - rare - onset < 1 year of age - affects children of European descent Pathology: - systemic inflammatory disease - amyloidosis Genetics: 1) autosomal dominant 2) mutation in CIAS1 gene Clinical manifestations: - episodes of rash, arthralgia, fever & conjunctivitis after generalized exposure to cold - attacks last 12-24 hours - urticaria-like rash - nausea - headache - sensorineural hearing loss Management: - interleukin 1-beta inhibitor [2] - rilonacept - canakinumab (Ilaris) FDA-approved in 2009

Related

NACHT, LRR & PYD domains-containing protein 3; angiotensin/vasopressin receptor AII/AVP-like; caterpiller protein 1.1; CLR1.1; cold autoinflammatory syndrome 1 protein; Cryopyrin; PYRIN-containing APAF1-like protein 1 (NLRP3, C1orf7, CIAS1, NALP3 ,PYPAF1)

General

cryopyrin associated periodic syndrome (CAPS)

Database Correlations

OMIM 120100

References

  1. OMIM :accession 120100
  2. Medical Knowledge Self Assessment Program (MKSAP) 16, 17, 18. American College of Physicians, Philadelphia 2012, 2015, 2018