A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency

A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency

Mutations in the IKBKB gene cause severe immunodeficiency, characterized clinically by persistent respiratory or gastrointestinal infections. Targeted gene panel sequencing revealed a novel homozygous missense mutation in the IKBKB gene of a patient with immune dysregulation and combined T and B cel...

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Bibliographic Details
Main Authors: Tao Qin, Yanjun Jia, Yuhang Liu, Rongxin Dai, Lina Zhou, Satoshi Okada, Miyuki Tsumura, Hidenori Ohnishi, Zenichiro Kato, Hirokazu Kanegane, Xiulian Sun, Xiaodong Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Immunology
Subjects:
IKKβ
NF-κB
SCID
protein degradation
protein stability
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2020.517544/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2020.517544/full

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