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

Wen Wen; Li Wang; Mengyue Deng; Yue Li; Xuemei Tang; Huawei Mao; Xiaodong Zhao

doi:10.1016/j.gendis.2021.03.005

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

Full-length article | 更新时间：2022-06-24

- 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
- Genes & Diseases 2022年9卷第1期
- 作者机构：
  
  1. Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University,Chongqing,PR China,400014
  2. Pediatric Research Institute,Chongqing,PR China,400014
  3. Ministry of Education Key Laboratory of Child Development and Disorders,Chongqing,PR China,400014
  4. National Clinical Research Center for Child Health and Disorders,Chongqing,PR China,400014
  5. China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Chongqing,PR China,400014
  6. Children's Hospital of Chongqing Medical University,Chongqing,PR China,400014
  7. Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University,Chongqing,PR China,400014
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2021.03.005
  中图分类号：
- 纸质出版日期：2022，
  
  网络出版日期：2022-1-1，
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Wen Wen, Li Wang, Mengyue Deng, 等. A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response[J]. Genes & Diseases, 2022,9(1).

Wen Wen, Li Wang, Mengyue Deng, et al. A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response[J]. Genes & Diseases, 2022,9(1).
Wen Wen, Li Wang, Mengyue Deng, 等. A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response[J]. Genes & Diseases, 2022,9(1). DOI： 10.1016/j.gendis.2021.03.005.

Wen Wen, Li Wang, Mengyue Deng, et al. A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response[J]. Genes & Diseases, 2022,9(1). DOI： 10.1016/j.gendis.2021.03.005.

摘要

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.

关键词

Keywords

AD-EDA-IDHSCTIκBαNF-κB activationNFKBIA

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