一例红皮病患儿白细胞介素36RN突变分析

doi:10.3760/cma.j.issn.0412-4030.2018.12.011

中华皮肤科杂志 ›› 2018, Vol. 51 ›› Issue (12): 899-901.doi: 10.3760/cma.j.issn.0412-4030.2018.12.011

一例红皮病患儿白细胞介素36RN突变分析

谢颖程苏云曾华松

551000 广州医科大学附属广州市妇女儿童医疗中心风湿免疫科

收稿日期:2017-12-26 修回日期:2018-09-22 出版日期:2018-12-15 发布日期:2018-11-30
通讯作者: 曾华松 E-mail:huasongxuqing@163.com
基金资助:
广东省自然科学基金（2017A030313557）；广州市医药卫生科技项目（20121A011071）

Mutation analysis of interleukin-36RN gene in a child with erythroderma

^{Xie Ying, Cheng Suyun, Zeng Huasong}

Department of Pediatric Allergy, Immunology and Rheumatology, Guangzhou Women and Children′s Medical Center, Guangzhou Medical University, Guangzhou 551000, China

Received:2017-12-26 Revised:2018-09-22 Online:2018-12-15 Published:2018-11-30
Contact: Zeng Huasong E-mail:huasongxuqing@163.com
Supported by:
Natural Science Foundation of Guangdong Province of China （2017A030313557）; Guangzhou Medical and Health Science and Technology Project （20121A011071）

摘要/Abstract

摘要： 患儿男，2岁，出生2个月后全身反复出现弥漫性脱屑性红色斑疹，无脓疱、溃烂，伴有反复发热，热峰39.3 ℃，诊断为红皮病。全基因组测序分析显示，该患儿白细胞介素36RN发生c.28C>T和c.368C>T复合杂合突变，其中，c.28C>T遗传自其父亲，引起p.Arg10X改变, 导致氨基酸转录终止提前出现；c.368C>T遗传自其母亲，引起p.Thr123 Met改变。患儿白细胞介素1RN基因未发生突变。白细胞介素36RN c.28C>T和c.368C>T复合杂合突变可能是该例患儿发生红皮病的原因。

关键词: 皮炎, 剥脱性；银屑病；白细胞介素1； DNA突变分析；白细胞介素36受体拮抗剂

Abstract: Xie Ying, Cheng Suyun, Zeng Huasong Department of Pediatric Allergy, Immunology and Rheumatology, Guangzhou Women and Children′s Medical Center, Guangzhou Medical University, Guangzhou 551000, China Corresponding author: Zeng Huasong, Email: huasongxuqing@163.com 【Abstract】 A 2-year-old male child presented with recurrent diffuse desquamative red macules all over the body, without pustules or ulcers. The patient had repeated fever, which peaked at 39.3 ℃. The patient was diagnosed with erythroderma. Whole genome sequencing showed 2 compound heterozygous mutations （c.28C>T and c.368C>T） in the interleukin （IL）-36RN gene. The mutation c.28C>T was inherited from his father, leading to p.Arg10X and premature termination of amino acid transcription. The mutation c.368C>T was inherited from his mother, causing p.Thr123 Met. No mutation was found in the IL-1RN gene in the patient. The compound heterozygous mutations c.28C>T and c.368C>T may be responsible for erythroderma in this child.

Key words: Dermatitis, exfoliative, Psoriasis, Interleukin?1, DNA mutational analysis, Interleukin?36 receptor antagonist

谢颖程苏云曾华松. 一例红皮病患儿白细胞介素36RN突变分析[J]. 中华皮肤科杂志, 2018, 51(12): 899-901.

Xie Ying, Cheng Suyun, Zeng Huasong. Mutation analysis of interleukin-36RN gene in a child with erythroderma[J]. Chinese Journal of Dermatology, 2018, 51(12): 899-901.

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一例红皮病患儿白细胞介素36RN突变分析

Mutation analysis of interleukin-36RN gene in a child with erythroderma

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