hyper-IgE syndrome
Primary immunodeficiency characterized by extremely elevated IgE levels, recurrent skin and lung infections, and distinctive facial features.
Full Definition
Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency disorder characterized by markedly elevated serum IgE levels (typically >2000 IU/mL), recurrent staphylococcal skin abscesses, pneumonia with pneumatocele formation, and distinctive facial features including a broad nose and prominent forehead. The condition results from mutations in genes such as STAT3 or DOCK8, affecting immune cell function. Patients often develop chronic mucocutaneous candidiasis and may have skeletal abnormalities including retained primary teeth and bone fractures.
Usage
Usage note: Often abbreviated as HIES; distinguished from other causes of elevated IgE by clinical constellation.
In Context
- "The patient's history of recurrent pneumonias with pneumatoceles and IgE level of 15,000 IU/mL suggested hyper-IgE syndrome." — Clinical consultation note
- "Genetic testing confirmed STAT3 mutation consistent with autosomal dominant hyper-IgE syndrome." — Genetics report