Hyper-IgE Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats hyper-IgE syndrome?
Hyper-IgE syndrome, a rare inherited condition that causes repeated skin and lung infections along with eczema-like rashes, is managed together by an allergist/immunologist and a dermatologist (skin doctor). The allergist/immunologist treats the immune system problem and watches for infections, while the dermatologist manages skin symptoms.
What is hyper-IgE syndrome?
Hyper-IgE syndrome is a rare genetic disease. It causes problems with the skin, sinuses, lungs, bones, and teeth. It is also called Job syndrome.
People with the condition have a higher-than-normal level of a type of antibody called IgE. IgE is an immune system protein. It is unclear why affected people have such high levels without having allergies.
The form covered here is autosomal dominant hyper-IgE syndrome. It is rare. It affects fewer than 1 per million people worldwide.
Symptoms
Symptoms are most often present in childhood. The disease is rare. A correct diagnosis often takes years. Symptoms include:
- Bone and tooth defects, including fractures and losing baby teeth late.
- Eczema.
- Skin abscesses and infection.
- Repeated sinus infections.
- Repeated lung infections.
Many people get pneumonia again and again. Pneumonia is a lung infection. Repeated pneumonia often leaves air-filled cysts in the lungs.
Skin problems can cause rashes, blisters, open sores, and scaling.
Many people also have bone problems. These include an unusually large range of joint movement, an abnormal curve of the spine, and bones that break easily.
Other signs can include distinctive facial features.
Causes and who gets it
Changes in the STAT3 gene cause most cases. These changes block T cells and other immune cells from maturing. This makes people more likely to get infections, especially bacterial and fungal infections of the lungs and skin.
One altered copy of the gene is enough. About half of STAT3 cases are inherited from an affected parent. The other half are new changes in people with no family history.
A similar condition is caused by changes in the ZNF341 gene.
How doctors diagnose it
A physical exam may show a curving of the spine. Tests used to confirm the diagnosis include:
- A blood test to look for a high IgE level.
- Genetic testing of the STAT3 gene.
Other tests may include a chest x-ray. A CT scan of the chest or sinuses may also be done.
Treatment
MedlinePlus says there is no known cure for this condition. The goal of treatment is to control the infections. Medicines include antibiotics. Some people also get antifungal medicines when needed.
Surgery is sometimes needed. It can drain abscesses. Gamma globulin given through a vein may help build up the immune system. It is used in people with severe infections.
Some providers suggest antibiotics. They help prevent infections in people who get many. This does not change the condition. It can lessen complications. Good general hygiene helps prevent skin infections.
When to see a doctor
Contact your provider if you have symptoms of hyper-IgE syndrome. It is a lifelong condition. Each new infection needs treatment.
Call 911 or go to the emergency room for trouble breathing, chest pain, fainting, or a sudden change in mental state.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can keep track of repeated infections and help you get to the right specialists. They can also help with follow-up care between specialist visits.
Common questions
What are the signs of hyper-IgE syndrome?
Signs can include repeated skin infections, eczema, lung infections, distinctive facial features, and baby teeth that fall out late. A blood test showing a high level of an antibody called IgE helps confirm the diagnosis.
Can a direct primary care doctor manage hyper-IgE syndrome?
A direct primary care doctor cannot manage the underlying immune problem alone, but can notice repeated infections early and refer the patient to an allergist/immunologist. The primary care doctor can still help with everyday illness care.
Is hyper-IgE syndrome inherited?
Yes, it is a genetic disease. In about half of cases caused by STAT3 gene changes, a person inherits the change from an affected parent. The other half are new changes in people with no family history. Genetic testing of the STAT3 gene can help confirm the diagnosis.
Sources
- MedlinePlus - Hyperimmunoglobulin E syndrome
- MedlinePlus Genetics - Autosomal dominant hyper-IgE syndrome
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.
