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Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Disease definition
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
ORPHA:69088
Classification level: DisorderSummary
Epidemiology
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.
Etiology
The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28).
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- Czech (2016)
- English (2016)
- Review article
- English (2009)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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