NEMO/IKKγ: linking NF-κB to human disease

Until recently, no genetic disease caused by NF-κB dysfunction was known. This changed with the identification of the X-linked gene encoding a molecule of the NF-κB signaling pathway, NEMO/IKKγ. Two distinct X-linked human diseases, incontinentia pigmenti (IP) and anhidrotic ectodermal dysplasia associated with immunodeficiency (EDA-ID), have been linked to NEMO/IKKγ dysfunction, providing a unique view of the role that NF-κB plays in human development, skin homeostasis and innate and acquired immunity.