A case of DNA ligase Ⅳ syndrome presenting as eczematous dermatitis and purpura
10.35541/cjd.20230305
- VernacularTitle:表现为湿疹样皮炎和紫癜的DNA连接酶Ⅳ综合征1例
- Author:
Keyao LI
1
;
Jianping TANG
1
;
Jinling TANG
1
;
Shuzhen YUE
1
;
Xin TAN
1
;
Zhu WEI
1
Author Information
1. 湖南省儿童医院皮肤科，长沙 410007
- Publication Type:Journal Article
- Keywords:
DNA ligases;
Genetic testing;
DNA ligase Ⅳ syndrome;
Severe combined, immunodeficiency;
DNA ligase Ⅳ gene
- From:
Chinese Journal of Dermatology
2025;58(6):546-548
- CountryChina
- Language:Chinese
-
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.
