@article{Wen2022, 
author = {Wen Wen and Li Wang and Mengyue Deng and Yue Li and Xuemei Tang and Huawei Mao and Xiaodong Zhao},
title = {A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response},
year = {2022},
journal = {Genes & Diseases},
volume = {9},
number = {1},
pages = {176-186},
keywords = {AD-EDA-ID, HSCT, IκBα, NF-κB activation, NFKBIA},
url = {https://www.sciopen.com/article/10.1016/j.gendis.2021.03.005},
doi = {10.1016/j.gendis.2021.03.005},
abstract = {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 truncation mutation of NFKBIA/IκBα. She presented recurrent fever, infectious pneumonia and chronic diarrhea with EDA-ID. Impaired NF-κB translocation and IL1R and TLR4 pathway activation were revealed in this patient. The findings suggested that the truncation mutation of IκBα caused medium impaired of activation of NF-κB but the early death. Furthermore, we reviewed all the reported patients with NFKBIA mutation to learn more about this disease.}
}