A variant of RAG1 gene identified in severe combined immunodeficiency: a case report

• Main Authors: Xinping Zhang (Author), Xiayan Kang (Author), Meiyu Yang (Author), Zili Cai (Author), Yulei Song (Author), Xiong Zhou (Author), Jianshe Cao (Author), Chengjuan Wang (Author), Kang Huang (Author), Yani Peng (Author), Jie He (Author), Zhenghui Xiao (Author)
• Format: Book
• Published: BMC, 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background The recombination-activating gene 1 (RAG1) protein is essential for the V (variable)-D (diversity)-J (joining) recombination process. Mutations in RAG1 have been reported to be associated with several types of immune disorders. Typical clinical features driven by RAG1 variants in...