Familial cold autoinflammatory syndrome

Definition:

Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria, is an autosomal dominant inflammatory disease that is characterized by episodes of rash, arthralgia, fever, conjunctivitis, and leukocytosis after generalized exposure to cold.

References:

[1]. Akiko Kitamura, et al. An inherited mutation in NLRC4 causes autoinflammation in human and mice. J Exp Med. 2014 Nov 17;211(12):2385-96. [Content Brief]

[2]. Chhavi Gandhi, et al. Familial atypical cold urticaria: description of a new hereditary disease. J Allergy Clin Immunol. 2009 Dec;124(6):1245-50. [Content Brief]

[3]. H M Hoffman, et al. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001 Oct;108(4):615-20. [Content Brief]

[4]. Hal M Hoffman, et al. Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. Hum Genet. 2003 Feb;112(2):209-16. [Content Brief]

[5]. Michael J Ombrello, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012 Jan 26;366(4):330-8. [Content Brief]

[6]. S Borghini, et al. Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum. 2011 Mar;63(3):830-9. [Content Brief]

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