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

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...

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Hlavní autoři:	Xinping Zhang, Xiayan Kang, Meiyu Yang, Zili Cai, Yulei Song, Xiong Zhou, Jianshe Cao, Chengjuan Wang, Kang Huang, Yani Peng, Jie He, Zhenghui Xiao
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2023-02-01
Edice:	BMC Pediatrics
Témata:	RAG deficiency severe combined immunodeficiency whole-exome sequencing missense variant
On-line přístup:	https://doi.org/10.1186/s12887-022-03822-0
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