RAG1 splicing mutation causes enhanced B cell differentiation and autoantibody production

Hypomorphic RAG1 or RAG2 mutations cause primary immunodeficiencies and can lead to autoimmunity, but the underlying mechanisms are elusive. We report here a patient carrying a c.116+2T>G homozygous splice site mutation in the first intron of RAG1, which led to aberrant splicing and greatly reduc...

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Detalles Bibliográficos
Autores principales: Min, Qing, Meng, Xin, Zhou, Qinhua, Wang, Ying, Li, Yaxuan, Lai, Nannan, Xiong, Ermeng, Wang, Wenjie, Yasuda, Shoya, Yu, Meiping, Zhang, Hai, Sun, Jinqiao, Wang, Xiaochuan, Wang, Ji-Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8525647/
https://www.ncbi.nlm.nih.gov/pubmed/34622798
http://dx.doi.org/10.1172/jci.insight.148887

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8525647/
https://www.ncbi.nlm.nih.gov/pubmed/34622798
http://dx.doi.org/10.1172/jci.insight.148887

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