Oledaid syndrome - Altmeyers Encyclopedia

Synonym(s)

X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Doffinger et al., 2001

Rare syndrome with osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, immunodeficiency. Furthermore, an association with incontinentia pigmenti has been described.

X-linked mutations in the IKBKG or NEMO gene mapped on gene locus Xq28.

Doffinger R et al (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa-B signaling. Nature Genet 27: 277-285
Dupuis-Girod S et al (2002) Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 109: e97
Smahi A et al (2002) The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet 11: 2371-2375