Autosomal dominant hyper IgE syndrome

Disease Overview

Autosomal dominant hyper IgE syndrome (AD-HIES), formerly known as Job syndrome, affects several body systems including the immune system. AD-HIES is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood.  Signs and symptoms may include recurrent infections (e.g., pneumonia, skin infections), eczema, and occasionally bone and tooth abnormalities. The eczema and skin infections may cause rashes, blisters, collections of pus (abscesses), open sores, and scaling of the skin. Some cases of AD-HIES are caused by mutations in the STAT3 gene. In other cases, the cause is unknown.[776]

Synonyms

• AD-HIES
• Hyper Ig E syndrome, autosomal dominant
• HIES autosomal dominant
• Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant
• AD hyperimmunoglobulin E syndrome
• Job syndrome autosomal dominant