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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Detalles Bibliográficos
Autores principales: Wen, Wen, Wang, Li, Deng, Mengyue, Li, Yue, Tang, Xuemei, Mao, Huawei, Zhao, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2021
Materias:
Full Length Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8720704/
https://www.ncbi.nlm.nih.gov/pubmed/35005117
http://dx.doi.org/10.1016/j.gendis.2021.03.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8720704/
https://www.ncbi.nlm.nih.gov/pubmed/35005117
http://dx.doi.org/10.1016/j.gendis.2021.03.005

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