Familial cold autoinflammatory syndrome
Definition:
References:
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[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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