Article

Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation

2024-05-17

Abstract excerpt

IKKα, encoded by CHUK , is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. Absence of IKKα cause fetal encasement syndrome in human, fatal in utero, while an impaired IKKα-NIK interaction was reported in a single patient and cause combined immunodeficiency. Here, we describe compound heterozygous variants in the kinase domain of IKKα in a fema...

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Literature Corpus work: b3d908bc-aa3c-5ae4-8aeb-f09f8b76ecfe
DOI: 10.1101/2024.05.17.24307356

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