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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KeAi Communications Co., Ltd.
2022-01-01
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| Series: | Genes and Diseases |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352304221000441 |
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| author | Wen Wen Li Wang Mengyue Deng Yue Li Xuemei Tang Huawei Mao Xiaodong Zhao |
| author_facet | Wen Wen Li Wang Mengyue Deng Yue Li Xuemei Tang Huawei Mao Xiaodong Zhao |
| author_sort | Wen Wen |
| collection | DOAJ |
| description | 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. |
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| spelling | doaj.art-262667ad5aa04a3d9ed31e56350459b62024-04-28T02:06:05ZengKeAi Communications Co., Ltd.Genes and Diseases2352-30422022-01-0191176186A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory responseWen Wen0Li Wang1Mengyue Deng2Yue Li3Xuemei Tang4Huawei Mao5Xiaodong Zhao6Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, PR China; Pediatric Research Institute, Chongqing, 400014 PR China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, PR China; National Clinical Research Center for Child Health and Disorders, Chongqing, 400014 PR China; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing 400014, PR China; Children's Hospital of Chongqing Medical University, Chongqing 400014, PR ChinaChongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, PR China; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014 PR China; Pediatric Research Institute, Chongqing, 400014 PR China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, PR China; National Clinical Research Center for Child Health and Disorders, Chongqing, 400014 PR China; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing 400014, PR China; Children's Hospital of Chongqing Medical University, Chongqing 400014, PR ChinaChongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, PR China; Pediatric Research Institute, Chongqing, 400014 PR China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, PR China; National Clinical Research Center for Child Health and Disorders, Chongqing, 400014 PR China; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing 400014, PR China; Children's Hospital of Chongqing Medical University, Chongqing 400014, PR ChinaChongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, PR China; Pediatric Research Institute, Chongqing, 400014 PR China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, PR China; National Clinical Research Center for Child Health and Disorders, Chongqing, 400014 PR China; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing 400014, PR China; Children's Hospital of Chongqing Medical University, Chongqing 400014, PR ChinaChongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, PR China; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014 PR China; Pediatric Research Institute, Chongqing, 400014 PR China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, PR China; National Clinical Research Center for Child Health and Disorders, Chongqing, 400014 PR China; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing 400014, PR China; Children's Hospital of Chongqing Medical University, Chongqing 400014, PR ChinaChongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, PR China; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014 PR China; Pediatric Research Institute, Chongqing, 400014 PR China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, PR China; National Clinical Research Center for Child Health and Disorders, Chongqing, 400014 PR China; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing 400014, PR China; Children's Hospital of Chongqing Medical University, Chongqing 400014, PR China; Corresponding author. Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, PR China.Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing 400014, PR China; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, 400014 PR China; Pediatric Research Institute, Chongqing, 400014 PR China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, PR China; National Clinical Research Center for Child Health and Disorders, Chongqing, 400014 PR China; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing 400014, PR China; Children's Hospital of Chongqing Medical University, Chongqing 400014, PR China; Corresponding author. Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University, PR China.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.http://www.sciencedirect.com/science/article/pii/S2352304221000441AD-EDA-IDHSCTIκBαNF-κB activationNFKBIA |
| spellingShingle | Wen Wen Li Wang Mengyue Deng Yue Li Xuemei Tang Huawei Mao Xiaodong Zhao A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response Genes and Diseases AD-EDA-ID HSCT IκBα NF-κB activation NFKBIA |
| title | A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response |
| title_full | A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response |
| title_fullStr | A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response |
| title_full_unstemmed | A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response |
| title_short | A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response |
| title_sort | heterozygous n terminal truncation mutation of nfkbia results in an impaired nf κb dependent inflammatory response |
| topic | AD-EDA-ID HSCT IκBα NF-κB activation NFKBIA |
| url | http://www.sciencedirect.com/science/article/pii/S2352304221000441 |
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