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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Chongqing Medical University
2021
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| Materias: | |
| 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 |