Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy

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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Bibliographic Details
Main Authors: Peiwei Zhao, Qingjie Meng, Yufeng Huang, Lei Zhang, Sukun Luo, Xiankai Zhang, Li Tan, Aifen Zhou, Hao Xiong, Xuelian He
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Immunology
Subjects:
BENTA
gain-of-function
lymphocytosis
NF-κB
CARD11
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.676386/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2021.676386/full

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