1. ¹INSERM U697, Pavillon Bazin, Hôpital Saint-Louis, Paris
2. ²INSERM U393, Tour Lavoisier, Hôpital Necker, Paris

Correspondence: G Courtois, INSERM U697, Pavillon Bazin, Hôpital Saint-Louis, Paris, France. Tel: +33-1-53-72-20-54; Fax: +33-1-53-72-20-51; E-mail: gilles.courtois@stlouis.inserm.fr

Received 30 September 2005; Revised 14 November 2005; Accepted 15 November 2005; Published online 6 January 2006.

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-B (NF-B) signaling pathway provides a unique opportunity to understand the function of NF-B in vivo. Besides confirming the importance of NF-B 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-B is activated in response to cell stimulation.