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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...

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Detalles Bibliográficos
Autores principales: Zhao, Peiwei, Meng, Qingjie, Huang, Yufeng, Zhang, Lei, Luo, Sukun, Zhang, Xiankai, Tan, Li, Zhou, Aifen, Xiong, Hao, He, Xuelian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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