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Synonym(s)
X-linked anhidrotic ectodermal dysplasia with immunodeficiency
HistoryThis section has been translated automatically.
Doffinger et al., 2001
DefinitionThis section has been translated automatically.
Rare syndrome with osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, immunodeficiency. Furthermore, an association with incontinentia pigmenti has been described.
EtiopathogenesisThis section has been translated automatically.
X-linked mutations in the IKBKG or NEMO gene mapped on gene locus Xq28.
LiteratureThis section has been translated automatically.
- 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
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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer