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Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy
B cell expansion with NF-κB and T cell anergy (BENTA) is a rare primary immunodeficiency disorder caused by gain-of-function (GOF) mutations in the CARD11 gene. Affected patients present with persistent B cell lymphocytosis in early childhood paired with lymphadenopathy and splenomegaly. Until now o...
Autores principales: | Zhao, Peiwei, Meng, Qingjie, Huang, Yufeng, Zhang, Lei, Luo, Sukun, Zhang, Xiankai, Tan, Li, Zhou, Aifen, Xiong, Hao, He, Xuelian |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8453161/ https://www.ncbi.nlm.nih.gov/pubmed/34557185 http://dx.doi.org/10.3389/fimmu.2021.676386 |
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