Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor B kinase alpha (IKKα).

Inhibitor of nuclear factor kappa B kinase alpha (IKKα) is critical for p100/NF-κB2 phosphorylation and processing into p52 and activation of the noncanonical NF-κB pathway. A patient with recurren...