title: NF-kappaB-related genetic diseases.
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-kappaB (NF-kappaB) signaling pathway provides a unique opportunity to understand the function of NF-kappaB in vivo. Besides confirming the importance of NF-kappaB 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-kappaB is activated in response to cell stimulation.
authors.affiliation: INSERM U697, Pavillon Bazin, Hôpital Saint-Louis, Paris, France. gilles.courtois@stlouis.inserm.fr
authors.forename: G
authors.initials: G
authors.lastname: Courtois
authors.forename: A
authors.initials: A
authors.lastname: Smahi
mesh_terms: D000818:Animals; D000074749:Deubiquitinating Enzyme CYLD; D005786:Gene Expression Regulation; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism*; D051550:I-kappa B Kinase / Q000235:genetics; D020672:I-kappa B Proteins / Q000235:genetics; D053592:Interleukin-1 Receptor-Associated Kinases; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics / Q000378:metabolism; D008954:Models, Biological; D016328:NF-kappa B / Q000235:genetics* / Q000378:metabolism*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D020672:I-kappa B Proteins; C491731:IKBKG protein, human; D047908:Intracellular Signaling Peptides and Proteins; D016328:NF-kappa B; D025521:Tumor Suppressor Proteins; D053592:Interleukin-1 Receptor-Associated Kinases; D017346:Protein Serine-Threonine Kinases; D051550:I-kappa B Kinase; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD