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。

abstractsObjective: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.