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Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
ORPHA:69088Classification level: Disorder
It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti.
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).
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
- Article for general public
- Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
- Czech (2016) - Orphananesthesia
- English (2016) - Orphananesthesia
Disease review articles
- Review article
- English (2009) - Orphanet J Rare Dis
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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