低温蛋白相关周期综合征患者NLRP3基因全外显子组测序新变异的鉴定

IF 0.7 Q4 IMMUNOLOGY

Case Reports in Immunology Pub Date : 2021-08-16 eCollection Date: 2021-01-01 DOI:10.1155/2021/2023119

Mahdieh Vahedi, Nima Parvaneh, Saeedeh Vahedi, Mohammad Shahrooei, Vahid Ziaee

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引用次数: 3

摘要

背景:NLRP3基因位于1号染色体上，编码一种pyrin样蛋白。该基因突变与自身炎症性疾病有关，称为冷冻素相关周期综合征(CAPS)。案例演示。我们报告一个1岁的男孩谁有复发性荨麻疹，因为出生和关节疼痛和肿胀。NLRP3基因外显子5错义突变c. g1060t (p.A354S)，经全外显子组测序检测。结论:在NLRP3基因中发现了一个目前未见报道的新变异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome.

查看原文本刊更多论文

Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome.

Background: NLRP3 gene is located in chromosome 1 and encodes a pyrin-like protein. Mutations in this gene are associated with an autoinflammatory disease, called cryopyrin-associated periodic syndrome (CAPS). Case Presentation. We report a 1-year-old boy who had recurrent urticarial rash since birth and joint pain and swelling. He had a missense mutation c.G1060 T (p.A354S) in exon 5 of the NLRP3 gene which was detected by whole exome sequencing.

Conclusion: A novel variant was found in the NLRP3 gene which has not been reported by now.

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来源期刊

Case Reports in Immunology IMMUNOLOGY-

CiteScore

1.90

自引率

0.00%

发文量

审稿时长

15 weeks

期刊介绍： Case Reports in Immunology is a peer-reviewed, Open Access journal that publishes case reports and case series related to allergies, immunodeficiencies, autoimmune diseases, immune disorders, cancer immunology and transplantation immunology.