表现为湿疹样皮炎和紫癜的DNA连接酶Ⅳ综合征1例

doi:10.35541/cjd.20230305

中华皮肤科杂志 ›› 2025, Vol. 58 ›› Issue (6): 546-548.doi: 10.35541/cjd.20230305

表现为湿疹样皮炎和紫癜的DNA连接酶Ⅳ综合征1例

李珂瑶汤建萍唐金玲岳淑珍谈鑫韦祝

湖南省儿童医院皮肤科，长沙 410007

收稿日期:2023-05-31 修回日期:2023-10-13 发布日期:2025-06-03
通讯作者: 韦祝 E-mail:34438881@qq.com

A case of DNA ligase Ⅳ syndrome presenting as eczematous dermatitis and purpura

Li Keyao, Tang Jianping, Tang Jinling, Yue Shuzhen, Tan Xin, Wei Zhu

Department of Dermatology, Hunan Children′s Hospital, Changsha 410007, China

Received:2023-05-31 Revised:2023-10-13 Published:2025-06-03
Contact: Wei Zhu E-mail:34438881@qq.com

摘要/Abstract

摘要： 【摘要】目的分析首例报道的以湿疹样皮炎和紫癜为主要临床表现DNA连接酶Ⅳ综合征患儿的基因变异特点。方法收集1例DNA连接酶Ⅳ综合征患儿的临床资料，应用全外显子组测序对患者进行基因检测。结果患儿皮肤表现为全身湿疹样皮炎和紫癜，同时出现全血细胞减少、生长发育迟缓和免疫缺陷，基因检测示患儿DNA连接酶Ⅳ基因存在3个突变位点的复杂杂合突变，即c.467C>T（p.A156V）、c.833G>T（p.R278L）和c.1271-c.1275del（p.K424fs*20），其中c.467C>T（p.A156V）既往未见报道。结论 DNA连接酶Ⅳ综合征患儿可表现出湿疹样皮炎和紫癜的皮疹特点，DNA连接酶Ⅳ基因的复杂杂合突变可能为该病的遗传学病因。

关键词: DNA连接酶类, 基因检测, DNA连接酶Ⅳ综合征, 重症联合免疫缺陷, DNA连接酶Ⅳ基因

Abstract: 【Abstract】 Objective To analyze the genetic mutation characteristics of the first reported case of DNA ligase Ⅳ syndrome primarily presenting as eczematous dermatitis and purpura in China. Methods Clinical data were collected from a child with DNA ligase Ⅳ syndrome, and whole-exome sequencing was performed to identify genetic mutations. Results The patient presented with generalized eczematous dermatitis and purpura, accompanied by pancytopenia, growth retardation, and immunodeficiency. Genetic testing revealed compound heterozygous mutations at three sites in the DNA ligase Ⅳ gene, namely c.467C>T （p.A156V）, c.833G>T （p.R278L）, and c.1271-c.1275del （p.K424fs*20）, among which c.467C>T （p.A156V） had not been previously reported. Conclusion Children with DNA ligase Ⅳ syndrome may present with eczematous dermatitis and purpura, and compound heterozygous mutations in the DNA ligase Ⅳ gene may represent the genetic cause of this condition.

Key words: DNA ligases, Genetic testing, DNA ligase Ⅳ syndrome, Severe combined, immunodeficiency, DNA ligase Ⅳ gene

李珂瑶汤建萍唐金玲岳淑珍谈鑫韦祝. 表现为湿疹样皮炎和紫癜的DNA连接酶Ⅳ综合征1例[J]. 中华皮肤科杂志, 2025,58(6):546-548. doi:10.35541/cjd.20230305

Li Keyao, Tang Jianping, Tang Jinling, Yue Shuzhen, Tan Xin, Wei Zhu. A case of DNA ligase Ⅳ syndrome presenting as eczematous dermatitis and purpura[J]. Chinese Journal of Dermatology, 2025, 58(6): 546-548.doi:10.35541/cjd.20230305

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表现为湿疹样皮炎和紫癜的DNA连接酶Ⅳ综合征1例

A case of DNA ligase Ⅳ syndrome presenting as eczematous dermatitis and purpura

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