抄録
Recent advances in the investigations of the molecular basis of hypohidrotic ectodermal dysplasia (HED) and incontinentia pigmenti (IP) are reviewed. A new member of TNF-ligand, ectodysplasin (EDA), its receptor, EDAR, and EDAR-associated death domain (EDARADD), have been isolated. Mutations of these genes have been identified as the cause of X-linked and autosomal forms of HED. NEMO/IKKγ gene deficiency has been shown to cause IP. Recent reports have elucidated that HED and immunodeficiency (HED-ID) is also derived from mutations in exon 10 of the NEMO/IKKγ gene. These data not only confirm the important role of EDA/EDAR signal trunsduction in regulating the morphogenesis of the ectoderm but also provide the unique view that NF-κB activation through NEMO/IKKγ is crucial in the development of skin appendages and the immune system.
