Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation
Quentin Riller,
Boris Sorin,
Charline Courteille
et al.
Abstract: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 female patient with hypogammaglobulinemia, recurrent lung infections, and Hay-Wells syndrome-like featu… Show more
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