Abstract
In pediatric allergy and immunology clinic, we occasionally have an opportunity to see patients with chronic intractable urticaria or recurrent angioedema. It is known that these symptoms are caused by various kinds of diseases, among which hereditary diseases should be kept in mind. In this paper, cryopyrin-associated periodic syndrome, phospholipase Cγ2-associated antibody deficiency and immune dysregulation, and NLRC4-associated periodic syndrome are reviewed as a cause of chronic intractable urticarial rash and hereditary angioedema as a cause of angioedema. Although the prevalence of these diseases is not high, pediatric allergists and immunologists should understand the clinical pictures of these diseases not to miss the diagnosis of them because earlier diagnosis will give patients a better quality of life, sometimes preventive measures for fatal attacks. In addition, it should be remembered that patients with hereditary diseases might not have another family member with a similar clinical phenotype since they could be caused by de novo mutations.
