The NF-κB signalling pathway in human diseases: From incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

Human Molecular Genetics

Volumn 11, Issue 20, 2002, Pages 2371-2375

  Smahi, Asma ^a   Courtois, Gilles ^b   Rabia, Smail Hadj ^a   Döffinger, Rainer ^c   Bodemer, Christine ^a   Munnich, Arnold ^a   Casanova, Jean Laurent ^c   Israë, Alain ^b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSTITUT PASTEUR   (France)

^c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CD40 LIGAND; CYTOKINE; CYTOKINE RECEPTOR; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 1; INTERLEUKIN 18; INTERLEUKIN 1BETA; LIPOPOLYSACCHARIDE; TOLL LIKE RECEPTOR 2; TRANSCRIPTION FACTOR; TUMOR NECROSIS FACTOR ALPHA;

ALBERS SCHOENBERG DISEASE; ANHIDROTIC ECTODERMAL DYSPLASIA; APOPTOSIS; CELL ADHESION; CELL PROTECTION; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE ACTIVATION; GENE CONTROL; GENE EXPRESSION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC MODEL; HAIR FOLLICLE; HAIR GROWTH; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMMUNE DEFICIENCY; IMMUNE RESPONSE; INCONTINENTIA PIGMENTI; INFLAMMATION; KNOCKOUT MOUSE; LYMPHEDEMA; MALE; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE; REVIEW; SEX DIFFERENTIATION; SIGNAL TRANSDUCTION; STOP CODON; STRESS; X CHROMOSOME DOMINANT DISORDER; ANIMAL; DISEASE MODEL; ECTODERMAL DYSPLASIA; METABOLISM;

ANIMALS; DISEASE MODELS, ANIMAL; ECTODERMAL DYSPLASIA; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INCONTINENTIA PIGMENTI; NF-KAPPA B; SIGNAL TRANSDUCTION;

EID: 0036771830     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (37)

1. Ghosh, S., May, M.J. and Kopp, E.B. (1998) NF-κB and rel proteins: evolutionary conserved mediators of immune responses. Annu. Rev. Immunol., 16, 225-260.
2. Karin, M. and Ben-Neriah, Y. (2000) Phosphorylation meets ubiquitination: the control of NF-κB activity. Annu. Rev. Immunol., 18, 621-663.
3. Israël, A. (2000) The IKK complex: an integrator of all signals that activate NF-κB? Trends Cell Biol., 10, 129-133.
4. Rothwarf, D.M., Zandi, E., Natoli, G. and Karin, M. 1998. IKK-γ is an essential regulatory subunit of the IκB kinase complex. Nature, 395, 297-300.
5. Yamaoka, S., Courtois, G., Bessia, C., Whiteside, S.T., Weil, R., Agou, F., Kirk, H.E., Kay, R.J. and Israël, A. (1998) Complementation cloning of NEMO, a component of the IκB kinase complex essential for NF-κB activation. Cell, 93, 1231-1240.
6. Gerondakis, S., Grossmann, M., Nakamura, Y., Pohl, T. and Grumont, R. (1999) Genetic approaches in mice to understand Rel/NF-κB and IκB function: transgenics and knockouts. Oncogene, 18, 6888-6895.
7. Landy, S.J. and Donnai, D. (1993) Incontinentia pigmenti (Bloch Sulzberger syndrome). J. Med. Genet., 30, 53-59.
8. Parrish, J.E., Scheuerle, A.E., Lewis, R.A., Levy, M.L. and Nelson, D.L. (1996) Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti. Hum. Mol. Genet., 5, 1777-1783.
9. Aradhya, S., Courtois, G., Rajkovic, A., Lewis, A.L., Levy, M., Israël, A. and Nelson, D.L. (2001) Atypical forms of incontinentia pigmenti in males result from mutations of a cytosine tract in exon 10 of NEMO (IKKγ). Am. J. Hum. Genet., 68, 765-771.
10. Smahi, A., Courtois, G., Vabres, P., Yamaoka, S., Heuertz, S., Munnich, A., Israël, A., Heiss, N.S., Klauck, S., Kioschis, P. et al. (2000) Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. Nature, 405, 466-472.
11. Pinheiro, G. and Freire Maia, N. (1994) Ectodermal dysplasias, a clinical classification and a causal review. Am. J. Med. Genet., 53, 153-162.
12. Priolo, M., Silengo, M. and Ravazzolo Land, R. (2000) Ectodermal dysplasias. Clin Genet., 58, 415-430.
13. Ezer, S., Bayes, M., Elomaa, O., Schlessinger, D. and Kere, J. (1999) Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum. Mol. Genet., 8, 2079-2086.
14. Kere, J., Srivastava, A.K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B., Munoe, F., Morgan, D., Clarke, A., Baybayan, P. et al. 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat. Genet., 13, 409-416.
15. Baala, L., Hadj-Rabia, S. and Zlotogora, J. (1999) Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. Am. J. Hum. Genet., 64, 651-653.
16. Monreal, A.W., Ferguson, B.M., Headon, D.J., Street, S.L., Overbeek, P.A. and Zonana, J. (1999) Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat. Genet., 22, 366-369.
17. Kumar, A., Eby, M.T., Sinha, S., Jasmin, A. and Chaudhary, P.M. (2001) The ectodermal dysplasia receptor activates the NF-κB, JNK and cell death pathways and binds to ectodysplasin A. J. Biol. Chem., 276, 2668-2677.
18. Headon, D.J., Emmal, S.A., Ferguson, B.M., Tucker, A.S., Justice, M.J., Sharpe, P.T, Zonana, J. and Overbeek, P.A. (2001) Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature, 414, 913-916.
19. Yan, M., Zhang, Z., Brady, J.R., Schilbach, S., Fairbrother, W.J. and Dixit, V.M. (2002) Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice. Curr. Biol., 12, 409-413.
20. Döffinger, R., Smahi, A., Bessia, C., Geissmann, F., Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S., Dupuis-Girod, S., Blanche, S. et al. (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling. Nat. Genet., 27, 277-285.
21. Jain, A., Ma, C.A., Liu, S., Brown, M., Cohen, J. and Strober, W. (2001) Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodertnal dysplasia. Nat. Immunol., 2, 223-228.
22. Zonana, J., Elder, M.E., Schneider, L.C., Orlow, S.J., Moss, C., Golabi, M., Shapira, S.K., Farndon, P.A., Wara, D.W., Emmal, S.A. et al. (2000) A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-γ (NEMO). Am. J. Hum. Genet., 67, 1555-1562.
23. Yan, M.H., Wang, L.C., Hymowitz, S.G., Schilbach, S., Lee, J., Goddard, A., de Vos, A.M., Gao, WQ. and Dixit, VM. (2000) Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science, 290, 523-527.
24. Abinun, M. (1995) Ectodermal dysplasia and immunodeficiency. Arch. Dis. Child., 73, 185.
25. Abinun, M., Spickett, G., Appleton, A.L., Flood, T. and Cant, A.J. (1996) Anhidrotic ectodennal dysplasia associated with specific antibody deficiency. Eur. J. Pediatr., 155, 146-147.
26. Mansour, S., Woffendin, H., Mitton, S., Jeffery, I., Jakins, T., Kenwrick, S. and Murday, V.A. (2001) Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am. J. Med. Genet., 99, 172-177.
27. Dupuis-Girod, S., Corradini, N., Hadj-Rabia, S., Fournet, J.C., Faivre, L., Le Deist, F., Durand, P., Döffinger, R., Smahi, A., Courtois, G. et al. (2002) Osteopetrosis, lymphedema, anhydrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics, 109, e97.
28. Orange, J.S., Brodeur, S.R., Jain, A., Bonilla, F.A., Schneider, L.C., Kretschmer, R., Nurko, S., Rasmussen, W.L., Kohler, J.R., Gellis, S.E. et al. (2002) Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations. J. Clin. Invest., 109, 501-509.
29. O'Neill, L.A. and Dinarello, C.A. (2000) The IL-1 receptor/toll-like receptor superfamily: crucial receptors for inflammation and host defense. Immunol. Today, 21, 206-209.
30. Rudolph, D., Yeh, W.C., Wakeham, A., Rudolph, B., Nallainathan, D., Elia, A., Potter, J. and Mak, T.W. (2000) Severe liver degeneration and lack of NF-κB activation in NEMO/IKK-γ deficient mice. Genes Dev., 14, 854-862.
31. Makris, C., Godfrey, V.L., Krahn-Senftleben, G., Takahashi, T., Roberts, J.L., Schwarz, T., Feng, L.L., Johnson, R.S. and Karin, M. (2000) Female mice heterozygous for IKKγ/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Mol. Cell, 5, 969-979.
32. Schmidt-Supprian, M., Bloch, W., Courtois, G., Addicks, K., Israël, A., Rajewsky, K. and Pasparakis, M. 2000. NEMO/IKKγ-deficient mice model incontinentia pigmenti. Mol. Cell, 5, 981-992.
33. Beg, A.A., Sha, W.C., Bronson, R.T., Ghosh, S. and Baltimore, D. (1995) Embryonic lethality and liver degeneration in mice lacking the RelA component of NF-κB Nature, 376, 167-170.
34. Li, Q.T., Van Antwerp, D., Mercurio, F., Lee, K.F. and Verma, I.M. (1999) Severe liver degeneration in mice lacking the IκB kinase 2 gene. Science, 284, 321-325.
35. Li, Z.W., Chu, W.M., Hu, Y.L., Delhase, M., Deerinck, T., Ellisman, M., Johnson, R. and Karin, M. (1999) The IKKβ subunit Of IκB kinase (IKK) is essential for nuclear factor kappa B activation and prevention of apoptosis. J. Exp. Med., 189, 1839-1845.
36. Tanaka, M., Fuentes, M.E., Yamaguchi, K., Durnin, M.H., Dalrymple, S.A., Hardy, K.L. and Goeddel, D.V. (1999) Embryonic lethality, liver degeneration, and impaired NF-κB activation in IKKβ-deficient mice. Immunity, 10, 421-429.
37. Pasparakis, M., Courtois, G., Hafner, M., Schmidt-Supprian, M., Nenci, A., Toksoy, A., Krampert, M., Goebeler, M., Gillitzer, R., Israël, A. et al. (2002) TNF-mediated inflammatory skin disease in mice with epidermis-specific deletion of IKK2. Nature, 417, 861-866.