Article
Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans
2024-07-17
Abstract excerpt
<title>Abstract</title> <p>IKKα is a multifunctional serine/threonine kinase that controls various biological processes, either dependent on or independent of its kinase activity. However, the importance of the kinase function of IKKα in human physiology remains unknown since no biallelic variants disrupting its kinase activity have been reported. In this study, we present the first homozygous germline missense v...
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Identifiers and source
- Literature Corpus work
- 688bc0aa-fe3e-5def-8e68-fd3d2e075880
- DOI
- 10.21203/rs.3.rs-4023537/v1
