NEMO/IKKγ:: Linking NF-κB to human disease

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