DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report

• Main Authors: Miao Huang (Author), Guoqing Dong (Author), Xiyan Lu (Author), Fei Xiao (Author), Qixin Zhou (Author), Shaoyi Zhang (Author)
• Format: Book
• Published: BMC, 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Ligase IV (LIG4) dificiency is a very rare clinical syndrome with around 50 cases reported to date. This syndrome is caused by biallelic pathogenic variants in the LIG4 gene, which cause DNA damage repair disorders, mainly manifesting as severe immunodeficiency. Case presentation...