Autosomal Dominant Hyper IgE Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Autosomal Dominant Hyper IgE Syndrome?
A primary care doctor usually coordinates care, while an immunologist often guides the overall plan. Other specialists may include a pulmonologist, an orthopedist, and a dentist. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is autosomal dominant hyper IgE syndrome?
Autosomal dominant hyper IgE syndrome, often called AD-HIES or Job syndrome, is a rare condition present from birth. It affects the immune system, the body's defense against germs. People with this condition have very high levels of an antibody called IgE and frequent skin and lung infections.
Hyper IgE syndrome means the blood contains too much immunoglobulin E, a protein the immune system uses to fight parasites and respond to allergens. In the autosomal dominant form, one changed gene is enough to cause it. The body then struggles to fight certain bacteria and fungi, and the skin, bones, and teeth can be affected.
Symptoms
Symptoms usually start in infancy. Many babies develop a rash with crusted, itchy skin. Repeated boils, painful skin bumps often caused by Staphylococcus bacteria, are common. Lung infections happen often and can cause lasting damage, such as pneumatoceles, pockets of trapped air in the lungs. Other features can include delayed loss of baby teeth, weak bones, and curved spine.
Causes and who gets it
Most cases come from changes in a gene called STAT3. A child has a one in two chance of having it if one parent carries the changed gene.
How doctors diagnose it
Doctors combine history, exam, and lab results. Blood tests can show very high IgE levels, high eosinophils, and weak vaccine responses. Because the condition is rare, doctors often refer patients to an immunologist.
Treatment
Treatment focuses on preventing and treating infections. Skin problems are managed with hygiene, antibiotics, and topical medicines. Lung infections need prompt antibiotics, and some people take long-term antibiotics to prevent new infections.
When to see a doctor
Anyone with repeated skin boils, frequent lung infections, or itchy rashes starting in infancy should talk to a doctor. Get care right away for fever, trouble breathing, chest pain, or a spreading skin infection.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance; a concierge doctor usually charges more and often works alongside insurance. Either can be a good home base for a rare condition.
Common questions
Is autosomal dominant hyper IgE syndrome contagious?
No. The condition is caused by a gene change and cannot spread from person to person. The infections that come with it can pass germs to others, though, so normal hygiene matters.
Can it be cured?
There is no cure for the gene change that causes the condition. Treatment can lower the number and seriousness of infections. How well someone does varies from person to person.
Will my children have it?
If a parent has the condition, each child has a one in two chance of having it. Some cases arise from a new gene change with no family history. A genetic counselor can help families understand testing options.
Why are IgE levels high?
IgE is an immune protein that is usually made during allergic reactions or parasite infections. In this condition, a gene change causes the body to make too much of it. Doctors are still studying the reasons.
Sources
- NIH Genetic and Rare Diseases Information Center - Hyper-IgE recurrent infection syndrome 1, autosomal dominant
- American Academy of Allergy, Asthma and Immunology - Primary Immunodeficiency Disease | AAAAI
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
