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GENATLAS PHENOTYPE
last update : 14-06-2010
Symbol EDAID
Location Xq28
Name ectodermal dysplasia, hypohidrotic, with immune deficiency
Other name(s)
  • ectodermal dysplasia, anhidrotic, with immune deficiency
  • hyper-IgM syndrome with ectodermal dysplasia
    • Corresponding gene IKBKG
    Other symbol(s) HED-ID, XHM-ED
    Main clinical features
  • severe immunodeficiency and deficient natural killer cell cytotoxicity, dental anomalies in carrier females
  • hypohidrosis, dental anomalies, alopecia, and immunodeficiency, and often serious infections
  • recalcitrant skin eruption, intertrigo, atopiclike dermatitis, and erythroderma, alopecia, frontal bossing, and periorbital wrinkling
    • Genetic determination sex linked
    Function/system disorder defense and immunity
    dermatology
    Type disease
    Gene product
    Name IKBKG
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   under-expression hypomorphic mutations in the coding region, leading to impaired NFKB signaling, causing EDAID in hemizygous males and IP in heterozygous females
    Remark(s)