A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response

A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response

Germline heterozygous gain-of-function (GOF) mutation of NFKBIA, encoding IκBα, would affect the activation of NF-κB pathway and cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Here we reported a Chinese patient with a heterozygous N-terminal...

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Bibliographic Details
Main Authors: Wen Wen, Li Wang, Mengyue Deng, Yue Li, Xuemei Tang, Huawei Mao, Xiaodong Zhao
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2022-01-01
Series:Genes and Diseases
Subjects:
AD-EDA-ID
HSCT
IκBα
NF-κB activation
NFKBIA
Online Access:http://www.sciencedirect.com/science/article/pii/S2352304221000441

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http://www.sciencedirect.com/science/article/pii/S2352304221000441

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