IKKα is an essential regulator of the noncanonical NF-κB signalling, lack of which is incompatible with life. Here authors show that a homozygous missense variant in humans, G167R, disrupting its kinase activity upstream of the non-canonical NF-κB pathway, leads to disrupted innate and adaptive immune functions while largely sparing other major organ systems.
- Gökhan Cildir
- Umran Aba
- Baran Erman
