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A novel CARD11 germline mutation in a Chinese patient of B cell expansion with NF-κB and T cell anergy (BENTA) and literature review

Germline gain-of-function (GOF) mutations in the CARD11 gene lead to a rare primary immunodeficiency disease known as B cell expansion with NF-κB and T cell anergy (BENTA). Affected patients present with a polyclonal expansion of B cells, lymphadenopathy, and splenomegaly. Herein, we report a novel...

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Autors principals: Peiwei Zhao, Yanqiu Hu, Dongming Sun, Qingjie Meng, Lei Zhang, Xiankai Zhang, Li Tan, Yong Zhang, Yan Ding, Xuelian He
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2022-09-01
Col·lecció:Frontiers in Immunology
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Accés en línia:https://www.frontiersin.org/articles/10.3389/fimmu.2022.943027/full
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