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GENATLAS PHENOTYPE
last update : 06-09-2017
Symbol HIES3
Location 19p13.2
Name hyper IgE syndrome 3
Other name(s) Immunodeficiency 35
Corresponding gene TYK2
Other symbol(s) IMD35
Main clinical features
  • primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition
  • eczema, recurrent Staphylococcal infections of the skin and respiratory tract, increased serum IgE, and eosinophilia, severe recurrent fungal and viral infections with molluscum contagiosum, herpes zoster, and herpes simplex
  • AR-HIES lacks the connective tissue and skeletal manifestations of AD form but has an increase in neurologic abnormalities
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder defense and immunity
    Type disease
    Remark(s)