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GENATLAS PHENOTYPE
last update : 17/06/2006
Symbol ADEDAID
Location 14q13
Name ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
Corresponding gene NFKBIA
Main clinical features
  • severe and unique T cell immunodeficiency with no detectable memory T cells and naive T cells do not respond to CD3-TCR activation
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    defense and immunity
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function