[HTML][HTML] NF-κB-related genetic diseases

G Courtois, A Smahi - Cell Death & Differentiation, 2006 - nature.com
G Courtois, A Smahi
Cell Death & Differentiation, 2006nature.com
The recent identification of genetic diseases (incontinentia pigmenti, anhidrotic ectodermal
dysplasia with immunodeficiency and cylindromatosis) resulting from mutations affecting
components of the nuclear factor-κB (NF-κB) signaling pathway provides a unique
opportunity to understand the function of NF-κB in vivo. Besides confirming the importance of
NF-κB in innate and acquired immunity or bone mass control, analysis of these diseases has
uncovered new critical roles played by this transcription factor in the development and …
Abstract
The recent identification of genetic diseases (incontinentia pigmenti, anhidrotic ectodermal dysplasia with immunodeficiency and cylindromatosis) resulting from mutations affecting components of the nuclear factor-κB (NF-κB) signaling pathway provides a unique opportunity to understand the function of NF-κB in vivo. Besides confirming the importance of NF-κB in innate and acquired immunity or bone mass control, analysis of these diseases has uncovered new critical roles played by this transcription factor in the development and homeostasis of the epidermis and the proper function of lymphatic vessels. In addition, the identified mutations will help understanding at the molecular level how NF-κB is activated in response to cell stimulation.
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