Chinese Journal of Dermatology ›› 2025, Vol. 58 ›› Issue (6): 546-548.doi: 10.35541/cjd.20230305

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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   

  1. Department of Dermatology, Hunan Children′s Hospital, Changsha 410007, China
  • Received:2023-05-31 Revised:2023-10-13 Online:2025-06-15 Published:2025-06-03
  • Contact: Wei Zhu E-mail:34438881@qq.com

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