Ectodermal dysplasia, anhidrotic, immunodeficiency, osteopetrosis, lymphedema (OLEDAID)

(OMIM phenotype number #300301)

Ectodermal dysplasia, anhidrotic, immunodeficiency, osteopetrosis, lymphedema is a rare disease characterized by anhidrotic ectodermal dysplasia, severe immunodeficiency, osteopetrosis and lymphedema. This disorder has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. It is classified as a X-linked osteopetrosis, and is caused by mutations (stop codon mutations) in the IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). IKBKG encodes NEMO (NF-B essential modulator), the regulatory subunit of the IKK (IkappaB kinase) complex, which is essential for NF-kappaB signaling. Germline loss-of-function mutations in IKBKG are lethal in male fetuses.

Gene

IKBKG gene, Xq28 (OMIM gene/locus number #300248)

Phenotype

Lymphedema, anhidrotic ectodermal dysplasia, immunologic alterations (benign or severe infections), and osteopetrosis.

Image

Fig. Skeletal radiograph of iliac wings demonstrating a “bone-within- bone” appearance. Reproduced from Pediatrics. 2002,109:e97.

Other resource

References

  1. Dupuis-Girod S, Corradini N, Hadj-Rabia S, et al. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics. 2002 Jun;109(6):e97.
  2. Döffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001 Mar;27(3):277-85.
  3. Masi L, Agnusdei D, Bilezikian J et al. Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int. 2015 Jun 13.
  4. http://www.omim.org