Heterozygous IKKβ activation loop mutation results in a complex immunodeficiency syndrome.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 32554083.
- Also identified by DOI 10.1016/j.jaci.2020.06.007 and PMC identifier 8176654.
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Abstract
We identified in an adult with ectodermal dysplasia and immunodeficiency a germline, gain-of-function mutation, K171R, in IKBKB. The K171R mouse immunologic phenotype parallels human, suggesting IKBKB K171R underlies a novel immunodeficiency syndrome.
Medical subject headings
- I-kappa B Kinase
- Immunologic Deficiency Syndromes
- Lung
- Mutation