Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations

Frontiers in Immunology

Volumn 2, Issue NOV, 2011, Pages 1-8

  Keller, Michael D ^a   Petersen, Maureen ^b   Ong, Peck ^c   Church, Joseph ^c   Risma, Kimberly ^d   Burham, Jon ^a   Jain, Ashish ^e   Richard Stiehm, E ^f   Hanson, Eric P ^g   Uzel, Gulbu ^e   Deardorff, Matthew A ^a   Orange, Jordan S ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b WALTER REED ARMY MEDICAL CENTER   (United States)

^c CHILDREN S HOSPITAL LOS ANGELES   (United States)

^d CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^e NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

Author keywords

Ectodermal dysplasia; EDA; Immunodeficiency; NEMO

Indexed keywords

EID: 84871703852     PISSN: None     EISSN: 16643224     Source Type: Journal    
DOI: 10.3389/fimmu.2011.00061     Document Type: Article

References (27)

1. Chassaing, N., Cluzeau, C., Bal, E., Guigue, P., Vincent, M. C, Viot, G., Ginisty, D., Munnich, A., Smahi, A., and Calvas, P. (2010). Mutations in ERARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. Br. J. Dermatol. 162, 1044-1048.
2. Clarke, A. (1987). Hypohidrotic ectodermal dysplasia. J. Med. Genet. 24, 659-663.
3. Clarke, A., Phillips, D. I., Brown, R., and Harper, P. S. (1987). Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch. Dis. Child. 62, 989-996.
4. Cluzeau, C., Rabia, S. H., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S., Bal, E., Chassaing, N., Vincent, M. C., Viot, G., Clauss, F., Maniere, M. C., Toupenay, S., Le Merrer, M., Lyonnet, S., Cormier Daire, V., Amiel, J, Faivre, L., de Prost, Y., Munnich, A., Bonnefont, J. P., Bodemer, C., and Smahi, A. (2011). Only four genes (EDA, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum. Mutat. 32, 70-77.
5. Courtois, G., Smahi, A., Reichenbach, J., Doffinger, R., Cancrini, C., Bonnet, M., Puel, A., Chable Bessia, C., Yamaoka, S., Feinberg, J., Dupuis-Girod, S., Bodemer, C., Livadiotti, S., Novelli, F., Rossi, P., Fischer, A., Israel, A., Munnich, A., Le Deist, F., and Casanova, J. L. (2003). A hypermorphic IKBa mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J. Clin. Invest. 112, 1108-1115.
6. Doffinger, R., Smahi, A., Bessia, C., Geissmann, F., Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S., Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S. H., Headon, D. J., Overbeek, P. A., De Deist, F., Holland, S. M., Belani, K., Kumararatne, D. S., Fischer, A., Shapiro, R., Conley, M. E., Reimund, E., Kalhoff, H., Abinun, M., Munnich, A., Israel, A., Courtois, G., and Casanova, J. L. (2001). X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kB signaling. Nat. Genet. 27, 277-285.
7. Dupuis-Girod, S., Corradini, N., Rabia, S. H., Fournet, J. C., Faivre, L., Le Deist, F., Durand, P., Doffinger, R., Smahi, A., Israel, A., Courtois, G., Brousse, N., Blanche, S., Munnich, A., Fischer, A., Casanova, J. L., and Bodemer, C. (2002). Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 109, e97.
8. Fish, J. D., Duerst, R. E., Gelfand, E. W., Orange, J. S., and Bunin, N. (2009). Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency. Bone Marrow Transplant. 43, 217-221.
9. Fusco, F., Bardaro, T., Fimiani, G., Mercadante, V., Miano, M. G., Falco, G., Israel, A., Courtois, G., D'Urso, M., and Ursini, M. V. (2004). Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kB activation. Hum. Mol. Genet. 13, 1763-1773.
10. Fusco,F.,Pescatore,A.,Bal,E.,Ghoul,A., Paciolla, M., Lioi, M. B., D'Urso, M., Rabia, S. H., Bodermer, C., Bonnefont, J. P., Munnich, A., Miano, M. G., Smahi, A., and Ursini, M. V. (2008). Alterations of the IKBKB locus and diseases: an update and a report of 13 novel mutations. Hum. Mutat. 29, 595-604.
11. Gautheron, J., Pescatore, A., Fusco, F., Esposito, E., Yamaoka, S., Agou, F., Ursini, M. V., and Courtois, G. (2010). Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology. Hum. Mol. Genet. 19, 3138-3149.
12. Hanson, E. P., Monaco-Shawver, L., Solt, L. A., Madge, L. A., Banerjee, P. P., May, M. J., and Orange, J. S. (2008). Hypomorphic nuclear factor KB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J. Allergy Clin. Immunol. 122, 1169-1177.
13. Hughes, A. E., Ralston, S. H., Marken, J., Bell, C., MacPherson, H., Wallace, R. G., van Hul, W., Whyte, M. P., Nakatuka, K., Hovy, L., and Anderson, D. M. (2000). Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat. Genet. 24, 45-48.
14. Itin, P. H., and Fistarol, S. K. (2004). Ectodermal dysplasias. Am.J.Med. Genet. C Semin. Med. Genet. 131, 45-51.
15. Karkainnen, M. J., Ferrell, R. E, Lawrence, E. C, Kimak, M. A, Levinson, K. L., McTigue, M. A., Alitalo, K., and Finegold, D. N. (2000). Missense mutations interfere with VEGFR-3 signaling in primary lymphedema. Nat. Genet. 25, 153-159.
16. Kere, J., Srivastava, A. K, Montonen, O., Zonana, J., Thomas, N., Ferguson, B., Munoz, F., Morgan, D., Clarke, A., Baybayan, P., Chen, E. Y., Ezer, S., Saarialho-Kere, U., de la Chapelle, A., and Schlessinger, D. (1996). X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by a mutation in a novel transmembrane protein. Nat. Genet. 13, 409-416.
17. Mikkola, M. L., and Thesleff, I. (2003). Ectodysplasin signaling in development. Cytokine Growth Factor Rev. 14, 211-224.
18. Monreal, A. W., Zohana, J., and Ferguson, B. (1998). Identification of a new splice form of the EDA gene permits detection of nearly all Xlinked hypohidrotic ectodermal dysplasia mutations. Am. J. Hum. Genet. 63, 380-389.
19. Nihues, T., Reichenbach, J., Neubert, J. Gudowius, S., Puel, S., Horneff, G., Lainka, E., Dirksen, U., Schroten, H., Doffinger, R., Casanova, J. L., and Wahn, V. (2004). Nuclear factor kB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. J. Allergy Clin. Immunol. 114, 1456-1462.
20. Orange, J. S., Jain, A., Ballas, Z. K., Schneider, L. C., Geha, R. S., and Bonilla, F. A. (2004). The presentation and natural history of immunodeficiency caused by nuclear factor KB essential modulator. J. Allergy Clin. Immunol. 113, 725-733.
21. Orange, J. S., Levy, O., and Geha, R. S. (2005). Human disease resulting from gene mutations that interfere with appropriate nuclear factorKB activation. Immunol. Rev. 203, 21-37.
22. Orstavik, K. H., Kristiansen, M., Knudsen, G. P., Storhaug, K., Vege, A., Eiklid, K., Abrahamsen, T. G., Smahi, A., and Steen-Johnsen, J. (2006). Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. Am.J.Med.Genet.A140, 31-39.
23. Salt, B. H., Niemela, J. E., Pandey, R., Hanson, E. P., Deering, R. P., Quinones, R., Jain, A., Orange, J. S., and Gelfand, E. W. (2008). IKBKG (NEMO) mutation can be associated with opportunistic infection without impairing TLR function. J. Allergy Clin. Immunol. 121, 976-982.
24. Schmidt-Supprian, M., Courtois, G., Tian, J., Coyle, A. J., Israel, A., Rajewsky, K., and Pasparakis, M. (2003). Mature T cells depend on signaling through the IKK Complex. Immunity 19, 377-389.
25. Schneider, P., Street, S. L., Gaide, O., Hertig, S., Tardivel, A., Tschopp, J., Runkel, L., Alevizopoulos, K., Ferguson, B. M., and Zonana, J. (2001). Mutations leading to Xlinked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A. J. Biol. Chem. 276, 18819-18827.
26. Smahi, A., Courtois, G., Vabres, P., Yamaoka, S., Heuertz, S., Munnich, A., Israel, A., Heiss, N. S., Klauck, S. M., Kioschis, P., Wiemann, S., Poustka, A., Esposito, T., Bardaro, T., Gianfrancesco, F., Ciccodicola, A., D'Urso, M., Woffendin, H., Jakins, T., Donnai, D., Stewart, H., Kenwrick, S. J.,Aradhya, S.,Yamagata, T., Levy, M., Lewis, R. A., and Nelson, D. L. (2000). Genomic rearrangement in NEMO impairs NF-kB activation and is a cause of incontinentia pigmenti. Nature 405, 466-472.
27. Vincent, M. C., Biancalana, V., Ginisty, D., Mandel, J. L., and Calvas, P. (2001). Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur. J. Hum. Genet. 9, 355-363.