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Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

Synonym(s) OL-EDA-ID
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Infancy
  • Q78.2
MeSH -
MedDRA -


Disease definition

This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.


It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti.

Clinical description

The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi.


The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28).

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