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GENATLAS PHENOTYPE
last update : 28/08/2006
Symbol OLEDAID
Location Xq28
Name ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
Corresponding gene IKBKG
Other symbol(s) HEDID
Main clinical features
  • osteopetrosis, lymphedema, and anhidrotic ectodermal dysplasia, with a poor inflammatory response and increasing in the levels of blood inflammatory markers with fever either absent or delayed during infection, immunodeficiency resulting from impaired cell responses to liposaccharide, interleukins IL1B, ILI8, TNF/TNFSF5 (CD40)
    • Genetic determination sex linked
    Related entries including pure immunodeficiency
    Function/system disorder defense and immunity
    dermatology
    Type disease
    Gene product
    Name inhibitor of kappa light polypeptide enhancer (IKBGK)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other   truncated protein hypomorphic mutation, stop codon mutations, leading to impaired NFKB signaling
    Genotype/Phenotype correlations mutation 110_111insC, which creates the most-upstream premature translation termination codon (at codon position 49) is associated with a pure immunodeficiency