hypohidrotic ectodermal dysplasia with immune deficiency

Hypohidrotic ectodermal dysplasia with immune deficiency, an X-linked recessive disorder, is caused by mutations in the IKK-gamma gene (IKBKG, or NEMO; MIM.300248).

Hypohidrotic ectodermal dysplasia (HED; MIM.305100) is a congenital disorder of teeth, hair, and eccrine sweat glands. It is usually inherited as an X-linked recessive trait, although rarer autosomal dominant (MIM.129490) and autosomal recessive (MIM.224900) forms exist.

References

 Orstavik, K. H., Kristiansen, M., Knudsen, G. P., Storhaug, K., Vege, A., Eiklid, K., Abrahamsen, T. G., Smahi, A., Steen-Johnsen, J. Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. Am. J. Med. Genet. 140A: 31-39, 2006.

 Martinez-Pomar, N., Munoz-Saa, I., Heine-Suner, D., Martin, A., Smahi, A., Matamoros, N. A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. Hum. Genet. 118: 458-465, 2005. [PubMed: 16228229]

 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., and 16 others X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa-B signaling. Nature Genet. 27: 277-285, 2001. [PubMed: 11242109]

 Jain, A., Ma, C. A., Liu, S., Brown, M., Cohen, J., Strober, W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nature Immun. 2: 223-228, 2001. [PubMed: 11224521]

 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., Ferguson, B. M. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am. J. Hum. Genet. 67: 1555-1562, 2000. [PubMed: 11047757]

 Lie, S. O., Froland, S., Brandtzaeg, P., Vandvik, B., Steen-Johnsen, J. Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. J. Inherit. Metab. Dis. 1: 137-143, 1978. [PubMed: 117248]