Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic.\nApproximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be severe and\ndebilitating. In this report, we describe a 47-year-old Hispanic male who presented initially for an evaluation of chronic hives\nfollowing hospitalization due to hive-induced anaphylaxis. The individual had a history significant for urticaria and angioedema\nbeginning in his early 30s. Interestingly, both the individualââ?¬â?¢s 41-year-old sister and 12-year-old daughter were also affected with\nchronic urticaria and severe angioedema. Whole exome sequencing of the proband and several family members revealed a\nheterozygous variant of uncertain significance in exon 2 of TNFAIP3, denoted as c.65G>A (p.R22Q), in all affected meAntoneicka L. Harris, Patrick R. Blackburn,\nJohn E. Richter Jr., et al., ââ?¬Å?Whole Exome Sequencing and Molecular\nModeling of a Missense Variant in TNFAIP3 That Segregates with\nDisease in a Family with Chronic Urticaria and Angioedema,ââ?¬Â Case\nReports in Genetics, vol. 2018, Article ID 6968395, 6 pages, 2018.\nhttps://doi.org/10.1155/2018/6968395, https://\ncreativecommons.org/licenses/by/4.0/.mbers.\nVariants in TNFAIP3 have been associated with multiple autoimmune diseases, susceptibility to allergy and asthma, and periodic\nfever syndromes, suggesting that this variant could potentially play a role in disease.
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