Hereditary disorders presenting with urticaria.

Link to article at PubMed

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Hereditary disorders presenting with urticaria.

Immunol Allergy Clin North Am. 2014 Feb;34(1):169-79

Authors: Kanazawa N

The latest clinical guideline includes three major hereditary disorders presenting with urticaria: urticaria pigmentosa (mastocytosis), hereditary angioedema, and cryopyrin-associated periodic syndromes. Understanding the genetic cause and the consequent pathogenesis of such disorders helps in providing disease-specific essential therapeutic regimens. In recent years, distinct hereditary autoinflammatory syndromes with cold urticaria have been reported: NLRP12-associated periodic syndrome, and PLCG2-associated antibody deficiency and immune dysregulation. Moreover, some familial cases with urticaria still remain to be genetically defined. Rapid progress in genetic analysis and further insights into undefined hereditary urticaria promise the development of novel therapeutics in the near future.

PMID: 24262697 [PubMed - indexed for MEDLINE]

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