Functional loss of IκBε leads to NF-κB deregulation in aggressive chronic lymphocytic leukemia
Rockefeller University Press -- Journal of Experimental Medicine
DOI 10.1084/jem.20142009

Mansouri et al. applied targeted deep sequencing to identify mutations within NF-κB core complex genes in CLL. NFKBIE, the gene encoding the inhibitory IκBε molecule, was most frequently mutated, especially in poor-prognostic subgroups of CLL. The authors show that NFKBIE mutations were associated with significantly reduced IkBε expression and p65 inhibition, ultimately leading to NF-κB activation and a more aggressive disease.