The Journal of Allergy and Clinical Immunology
Volume 124, Issue 6 , Pages 1245-1250 , December 2009

Familial atypical cold urticaria: Description of a new hereditary disease

  • Chhavi Gandhi, MD

      Affiliations

    • Division of Rheumatology, Allergy, and Immunology, University of California, San Diego, La Jolla, Calif
    • ,
  • Chris Healy, MD

      Affiliations

    • University of Wisconsin Health Allergy and Asthma, Madison, Wis
    • ,
  • Alan A. Wanderer, MD

      Affiliations

    • Allergy and Asthma Consultants of Montana, Bozeman, Mont
    • ,
  • Hal M. Hoffman, MD

      Affiliations

    • Division of Rheumatology, Allergy, and Immunology, University of California, San Diego, La Jolla, Calif
    • Children's Specialists of San Diego, Rady Children's Hospital, San Diego, Calif
    • San Diego Branch, Ludwig Institute of Cancer Research, La Jolla, Calif
    • Corresponding Author InformationReprint requests: Hal M. Hoffman, MD, 9500 Gilman Dr, Mail code 0635, La Jolla, CA 92093-0635.

Received 18 July 2009 ,Revised 10 September 2009 ,Accepted 18 September 2009.

References 

  1. Wanderer AA, Hoffman HM. The spectrum of acquired and familial cold-induced cold urticaria/urticaria-like syndromes. Immunol Allergy Clin North Am. 2004;15:701–723
  2. Wanderer AA, Grandel KE, Wasserman SI, Farr RS. Clinical characteristics of cold-induced systemic reactions in acquired cold urticaria syndromes: recommendations for prevention of this complication and a proposal for a diagnostic classification of cold urticaria. J Allergy Clin Immunol. 1986;78:417–423
  3. Siebenhaar F, Weller K, Mlynek A, Magerl M, Altrichter S, Vieira dos Santos R, et al. Acquired cold urticaria: clinical picture and update on diagnosis and treatment. Clin Exp Dermatol. 2007;32:241–245
  4. Kaplan AP, Garofalo J. Identification of a new physically induced urticaria: cold-induced cholinergic urticaria. J Allergy Clin Immunol. 1981;68:438–441
  5. Kaplan AP. Unusual cold-induced disorders: cold-dependent dermatographism and systemic cold urticaria. J Allergy Clin Immunol. 1984;73:453–456
  6. Soter NA, Joshi NP, Twarog FJ, Zeiger RS, Rothman PM, Colten HR. Delayed cold-induced urticaria: a dominantly inherited disorder. J Allergy Clin Immunol. 1977;59:294–297
  7. Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001;108:615–620
  8. Siebenhaar F, Staubach P, Metz M, Magerl M, Jung J, Maurer M. Peltier effect based temperature challenge: an improved method for diagnosing cold urticaria. J Allergy Clin Immunol. 2004;114:1224–1225
  9. Kaplan AP, Gray L, Shaff RE, Horakova Z, Beaven MA. In vivo studies of mediator release in cold urticaria and cholinergic urticaria. J Allergy Clin Immunol. 1975;55:394–402
  10. Soter NA, Wasserman SI, Austen KF. Cold urticaria: release into the circulation of histamine and eosinophil chemotactic factor of anaphylaxis during cold challenge. N Engl J Med. 1976;294:687–690
  11. Siebenhaar F, Degener F, Zuberbier T, Martus P, Maurer M. High-dose desloratadine decreases wheal volume and improves cold provocation thresholds compared with standard-dose treatment in patients with acquired cold urticaria: a randomized, placebo-controlled, crossover study. J Allergy Clin Immunol. 2009;123:672–679
  12. Bonadonna P, Lombardi C, Senna G, Canonica GW, Passalacqua G. Treatment of acquired cold urticaria with cetirizine and zafirlukast in combination. J Am Acad Dermatol. 2003;49:714–716
  13. Neittaanmaki H. Cold urticaria. Clinical findings in 220 patients. J Am Acad Dermatol. 1985;13:636–644
  14. Wanderer AA. Cold temperature challenges for acquired cold urticaria. J Allergy Clin Immunol. 2005;115:1096
  15. Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A. 1995;92:10560–10564
  16. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein cause familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29:301–305
  17. Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet. 2004;364:1779–1785

 Supported by National Institutes of Health training grant T32 A107469 and the University of California, San Diego, Department of Pediatrics Opportunity Research Grant.

 Disclosure of potential conflict of interest: C. Healy receives honoraria from GlaxoSmithKline and Schering-Plough. H. M. Hoffman is a consultant for Regeneron Pharmaceuticals and Novartis Pharmaceuticals. The rest of the authors have declared that they have no conflict of interest.

PII: S0091-6749(09)01436-5

doi: 10.1016/j.jaci.2009.09.035

The Journal of Allergy and Clinical Immunology
Volume 124, Issue 6 , Pages 1245-1250 , December 2009

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