People with autosomal dominant hyper-immunoglobulin E syndrome (HIES) have recurrent bacterial infections of the skin and lungs. Patients with HIES typically also have eczema, distinct facial features, and a tendency to experience bone fractures. The disease has several other names, including Job’s syndrome, STAT3 deficiency, and Buckley syndrome.
HIES is a primary immune deficiency disease (PIDD). For more information on PIDD research and patient care at NIAID, visit the NIAID PIDD site.
For further information about HIES, visit the National Library of Medicine, Genetics Home Reference autosomal dominant hyper-IgE syndrome site.
Most cases of autosomal dominant HIES result from mutations in the gene that encodes a signaling protein called STAT3. This protein is involved in many different activities of the body, explaining why HIES affects facial appearance, bones, lungs, skin, and arteries. NIAID investigators identified the role of STAT3 in autosomal dominant HIES in 2007.
People with HIES may have recurrent infections of the skin and lungs. These infections are often caused by the bacterium Staphylococcus aureus but also may be caused by other bacteria and fungi. Furthermore, people with HIES tend to have recurrent bone fractures, unusually flexible joints, and inflamed skin. Baby teeth in people with HIES often do not fall out on their own. A doctor will suspect HIES in a person with eczema, recurrent boils, and pneumonias.
The most effective treatments for HIES are continuous antibiotics and antifungals as needed. Some patients receive antibody replacement therapy. Antiseptic approaches, such as dilute bleach baths, are often helpful to prevent skin infections and improve eczema. Watch an NIAID video on wet-wrap therapy for eczema.
NIAID-supported clinical research seeks to determine the effect of HIES on the immune system, including which immune cells and responses are affected and how these abnormalities translate into patient's symptoms.