A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever Article Swipe
Peiwei Zhao
,
Qingjie Meng
,
Yali Wu
,
Lei Zhang
,
Xiankai Zhang
,
Li Tan
,
Yan Ding
,
Xiaoxia Lü
,
Xuelian He
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1038/s41598-024-71673-z
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1038/s41598-024-71673-z
Immunodeficiency 11B with atopic dermatitis (IMD11B, OMIM:617638) is rare primary immunodeficiency disease caused by germline dominant negative (DN) mutations in the CARD11 gene. Affected patients present with immune dysfunction, recurrent infections and atopic dermatitis. In this study, we sought to identify and characterize the genetic variant in one patient with periodic fever, recurrent infections, and eczema. Trio whole-exome sequencing (WES) was employed in this patient and her parents, and Sanger sequencing validated the potential pathogenic variant. In vitro functional study was performed to evaluate the pathogenicity of genetic variant identified. A very rare missense mutation (c.2324C > T, p.S775L) in CARD11 gene (NM_032415) was identified by WES in the patient but not her parents. Luciferase reporter assays and co-immunoprecipitation demonstrated mutation exerts a dominant-interfering effect on wild-type CARD11, inhibiting the activity of NF-κB. RNA sequencing analysis also confirmed that mutant CARD11 inhibited down-stream transcriptional activity of NF-κB. A review of literature doesn't found significant genotype-phenotype correlation. We identified a vary rare DN CARD11 mutation, expanding the genetic and phenotypic spectrum of CARD11.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41598-024-71673-z
- OA Status
- gold
- Cited By
- 2
- References
- 25
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4403470590
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4403470590Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1038/s41598-024-71673-zDigital Object Identifier
- Title
-
A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent feverWork title
- Type
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articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-10-16Full publication date if available
- Authors
-
Peiwei Zhao, Qingjie Meng, Yali Wu, Lei Zhang, Xiankai Zhang, Li Tan, Yan Ding, Xiaoxia Lü, Xuelian HeList of authors in order
- Landing page
-
https://doi.org/10.1038/s41598-024-71673-zPublisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1038/s41598-024-71673-zDirect OA link when available
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Disease, Gene, Biology, Medicine, Genetics, PathologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
2Total citation count in OpenAlex
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2025: 2Per-year citation counts (last 5 years)
- References (count)
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25Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.analysis | 135 |
| abstract_inverted_index.dominant | 15 |
| abstract_inverted_index.employed | 61 |
| abstract_inverted_index.evaluate | 83 |
| abstract_inverted_index.germline | 14 |
| abstract_inverted_index.identify | 40 |
| abstract_inverted_index.missense | 93 |
| abstract_inverted_index.mutation | 94, 120 |
| abstract_inverted_index.negative | 16 |
| abstract_inverted_index.p.S775L) | 98 |
| abstract_inverted_index.parents, | 67 |
| abstract_inverted_index.parents. | 113 |
| abstract_inverted_index.patients | 24 |
| abstract_inverted_index.periodic | 50 |
| abstract_inverted_index.reporter | 115 |
| abstract_inverted_index.spectrum | 169 |
| abstract_inverted_index.variant. | 75 |
| abstract_inverted_index.confirmed | 137 |
| abstract_inverted_index.expanding | 164 |
| abstract_inverted_index.inhibited | 141 |
| abstract_inverted_index.mutation, | 163 |
| abstract_inverted_index.mutations | 18 |
| abstract_inverted_index.performed | 81 |
| abstract_inverted_index.potential | 73 |
| abstract_inverted_index.recurrent | 29, 52 |
| abstract_inverted_index.validated | 71 |
| abstract_inverted_index.wild-type | 126 |
| abstract_inverted_index.Luciferase | 114 |
| abstract_inverted_index.dermatitis | 4 |
| abstract_inverted_index.functional | 78 |
| abstract_inverted_index.identified | 104, 157 |
| abstract_inverted_index.infections | 30 |
| abstract_inverted_index.inhibiting | 128 |
| abstract_inverted_index.literature | 150 |
| abstract_inverted_index.pathogenic | 74 |
| abstract_inverted_index.phenotypic | 168 |
| abstract_inverted_index.sequencing | 58, 70, 134 |
| abstract_inverted_index.(NM_032415) | 102 |
| abstract_inverted_index.dermatitis. | 33 |
| abstract_inverted_index.down-stream | 142 |
| abstract_inverted_index.identified. | 89 |
| abstract_inverted_index.infections, | 53 |
| abstract_inverted_index.significant | 153 |
| abstract_inverted_index.whole-exome | 57 |
| abstract_inverted_index.OMIM:617638) | 6 |
| abstract_inverted_index.characterize | 42 |
| abstract_inverted_index.correlation. | 155 |
| abstract_inverted_index.demonstrated | 119 |
| abstract_inverted_index.dysfunction, | 28 |
| abstract_inverted_index.pathogenicity | 85 |
| abstract_inverted_index.transcriptional | 143 |
| abstract_inverted_index.Immunodeficiency | 0 |
| abstract_inverted_index.immunodeficiency | 10 |
| abstract_inverted_index.genotype-phenotype | 154 |
| abstract_inverted_index.dominant-interfering | 123 |
| abstract_inverted_index.co-immunoprecipitation | 118 |
| cited_by_percentile_year.max | 97 |
| cited_by_percentile_year.min | 95 |
| corresponding_author_ids | https://openalex.org/A5100341550 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 9 |
| corresponding_institution_ids | https://openalex.org/I4210142622, https://openalex.org/I47720641 |
| citation_normalized_percentile.value | 0.7060922 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |