NF-kappa B defects in humans: the NEMO/incontinentia pigmenti connection

Sci STKE. 2000 Nov 14;2000(58):pe1. doi: 10.1126/stke.2000.58.pe1.

Abstract

The components of the nuclear factor-kappaB (NF-kappaB) family of transcription factors are critical for regulating the response to immune challenges. Recently, a role for NF-kappaB in skin biology has been revealed. Within the cascade of proteins whose activities impinge upon the activation of NF-kappaB, the NEMO (NF-kappaB essential modulator)/IKKgamma protein is required for the activation of the IkappaB kinases, which in turn, promote the degradation of IkappaB proteins, leading to the derepression of NF-kappaB activity. Courtois and Israël discuss the role of NEMO/IKKgamma in normal physiological activation of NF-kappaB and the consequences of defective NF-kappaB activation, as an effect of NEMO/IKKgamma mutations, which can lead to incontinentia pigmenti, a disease marked by alopecia, tooth eruption, skin lesions, and changes in skin pigmentation.

Publication types

  • Review

MeSH terms

  • Animals
  • Humans
  • I-kappa B Kinase
  • Incontinentia Pigmenti / enzymology*
  • Incontinentia Pigmenti / genetics
  • NF-kappa B / deficiency*
  • NF-kappa B / genetics
  • NF-kappa B / physiology*
  • Protein Serine-Threonine Kinases / genetics
  • Protein Serine-Threonine Kinases / physiology*

Substances

  • NF-kappa B
  • Protein Serine-Threonine Kinases
  • CHUK protein, human
  • I-kappa B Kinase
  • IKBKB protein, human
  • IKBKE protein, human