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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Detalles Bibliográficos
Autores principales: Zhao, Peiwei, Hu, Yanqiu, Sun, Dongming, Meng, Qingjie, Zhang, Lei, Zhang, Xiankai, Tan, Li, Zhang, Yong, Ding, Yan, He, Xuelian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9530255/
https://www.ncbi.nlm.nih.gov/pubmed/36203613
http://dx.doi.org/10.3389/fimmu.2022.943027

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