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首页> 外文期刊>Case Reports in Genetics >Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
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Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

机译：完整的外显子组测序和TNFAIP3的一个错义变体的分子模型，该变体与慢性荨麻疹和血管性水肿的家庭疾病隔离

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Chronic urticaria is a common condition characterized by recurrent hives lasting several weeks or months and is usually idiopathic. Approximately half of the individuals with chronic urticaria will present with episodes of angioedema that can be severe and debilitating. In this report, we describe a 47-year-old Hispanic male who presented initially for an evaluation of chronic hives following hospitalization due to hive-induced anaphylaxis. The individual had a history significant for urticaria and angioedema beginning in his early 30s. Interestingly, both the individual’s 41-year-old sister and 12-year-old daughter were also affected with chronic urticaria and severe angioedema. Whole exome sequencing of the proband and several family members revealed a heterozygous variant of uncertain significance in exon 2 of TNFAIP3, denoted as c.65G>A (p.R22Q), in all affected members. Variants in TNFAIP3 have been associated with multiple autoimmune diseases, susceptibility to allergy and asthma, and periodic fever syndromes, suggesting that this variant could potentially play a role in disease.
机译：慢性荨麻疹是一种常见的疾病，特征是荨麻疹持续数周或数月，通常是特发性的。大约一半的慢性荨麻疹患者会出现严重而令人衰弱的血管性水肿。在本报告中，我们描述了一位47岁的西班牙裔男性，由于蜂巢引起的过敏反应，其最初出院是为了评估住院后的慢性荨麻疹。该患者从30多岁开始就有荨麻疹和血管性水肿的重要病史。有趣的是，该人的41岁姐姐和12岁女儿也都患有慢性荨麻疹和严重的血管性水肿。先证者和几个家庭成员的整个外显子组测序结果显示，在所有受影响的成员中，TNFAIP3外显子2的杂合子变体意义不明确，表示为c.65G> A（p.R22Q）。 TNFAIP3的变体与多种自身免疫性疾病，对过敏和哮喘的敏感性以及周期性发烧综合症有关，这表明该变体可能在疾病中起作用。

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