Catalog

Autosomal recessive hyperimmunoglobulin E syndrome

No MMS code

Link to WHO Definition

Autosomal recessive hyperimmunoglobulin E syndrome – http://id.who.int/icd/entity/1909398175

Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterised 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; ), but other features such as persistent cutaneous viral infections are unique to AR-HIES.