Autosomal recessive hyper-IgE syndrome

From BugSigDB


Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES.
Aliases
  • AR-HIES
  • Autosomal recessive HIES
  • Hyperimmunoglobulin E syndrome type 2
  • Non-skeletal hyper-IgE syndrome