title: The NF-kappaB signaling pathway in human genetic diseases.
abstract: The nuclear factor-kappaB (NF-kappaB) signaling pathway plays a key role in inflammation, immune response, cell growth control and protection against apoptosis. Recently, it has been associated with several distinct genetic diseases that exhibit a large spectrum of dysfunction, such as skin inflammation, perturbed skin appendage development and immunodeficiencies. In this review, a summary of the pathophysiological consequences of impaired NF-kappaB activation in humans is provided with respect to the functions of the molecules which are mutated.
authors.affiliation: INSERM U697, Pavillon Bazin, Hôpital Saint-Louis, 1, Avenue Claude Vellefaux, 75010, Paris, France. gilles.courtois@stlouis.inserm.fr
authors.forename: Gilles
authors.initials: G
authors.lastname: Courtois
mesh_terms: D000818:Animals; D004476:Ectodermal Dysplasia / Q000235:genetics; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D051550:I-kappa B Kinase; D020672:I-kappa B Proteins / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D007184:Incontinentia Pigmenti / Q000235:genetics; D008297:Male; D051379:Mice; D009154:Mutation; D000072000:NF-KappaB Inhibitor alpha; D016328:NF-kappa B / Q000378:metabolism*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D015398:Signal Transduction
chemical_list: D020672:I-kappa B Proteins; D016328:NF-kappa B; C000606204:NFKBIA protein, human; C000606205:Nfkbia protein, mouse; D000072000:NF-KappaB Inhibitor alpha; D017346:Protein Serine-Threonine Kinases; C496559:CHUK protein, human; C496564:Chuk protein, mouse; D051550:I-kappa B Kinase; C496560:IKBKB protein, human; C496565:IKBKE protein, human; C496562:Ikbkb protein, mouse; C496566:Ikbke protein, mouse