Overview
Hyper-IgE syndrome (HIES), also known as Job syndrome, is a rare primary immunodeficiency disorder characterized by very high levels of an antibody called immunoglobulin E (IgE) in the blood. This condition affects the immune system's ability to fight infections properly, leaving patients vulnerable to repeated and sometimes severe infections, particularly of the skin and lungs. The hallmark features of Hyper-IgE syndrome include recurrent skin abscesses (boils), repeated lung infections (pneumonia) that can lead to permanent lung damage, and chronic eczema-like rashes. Many patients also have distinctive facial features, skeletal abnormalities such as scoliosis and bones that break easily, and problems with their baby teeth not falling out on time. The disease can affect multiple body systems beyond the immune system, including bones, teeth, skin, and connective tissue. There are different genetic forms of Hyper-IgE syndrome. The most common form is caused by mutations in the STAT3 gene and follows an autosomal dominant inheritance pattern. Other forms involve different genes such as DOCK8 and ZNF341 and follow autosomal recessive patterns. Treatment focuses on preventing and managing infections with long-term antibiotics and antifungal medications. Skin care is also very important. In recent years, bone marrow transplantation has been explored for certain forms, and targeted therapies are being investigated. Early diagnosis and consistent preventive care can significantly improve quality of life and outcomes.
Key symptoms:
Recurrent skin abscesses or boilsRepeated lung infections (pneumonia)Chronic eczema or itchy skin rashes starting in infancyVery high IgE levels in the bloodLung cysts or air pockets that form after infectionsBaby teeth that do not fall out on their ownBones that fracture easilyScoliosis or curved spineDistinctive facial features such as a broad nose and prominent foreheadFungal infections of the skin, nails, or mouth (thrush)Joint hypermobility or loose jointsCold abscesses (boils without typical redness or warmth)Recurrent ear and sinus infectionsSkin infections with staph bacteria
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
2 eventsMaineHealth
National Cancer Institute (NCI) — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Hyper-IgE syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hyper-IgE syndrome.
Community
No community posts yet. Be the first to share your experience with Hyper-IgE syndrome.
Start the conversation →Latest news about Hyper-IgE syndrome
Disease timeline:
New recruiting trial: Immunoinflammatory Response in Post Cardiac Arrest Syndrome (PCAS)
A new clinical trial is recruiting patients for Hyper-IgE syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which genetic form of Hyper-IgE syndrome do I or my child have, and how does that affect the treatment plan?,What preventive antibiotics and antifungals should be taken daily, and for how long?,How often should lung imaging be done to monitor for lung cysts or damage?,Is bone marrow transplantation an option for my specific type of HIES?,What signs of infection should prompt an emergency room visit versus a regular doctor visit?,Are there any clinical trials or new therapies being studied for Hyper-IgE syndrome?,What precautions should be taken regarding vaccinations, physical activity, and dental care?
Common questions about Hyper-IgE syndrome
What is Hyper-IgE syndrome?
Hyper-IgE syndrome (HIES), also known as Job syndrome, is a rare primary immunodeficiency disorder characterized by very high levels of an antibody called immunoglobulin E (IgE) in the blood. This condition affects the immune system's ability to fight infections properly, leaving patients vulnerable to repeated and sometimes severe infections, particularly of the skin and lungs. The hallmark features of Hyper-IgE syndrome include recurrent skin abscesses (boils), repeated lung infections (pneumonia) that can lead to permanent lung damage, and chronic eczema-like rashes. Many patients also hav
At what age does Hyper-IgE syndrome typically begin?
Typical onset of Hyper-IgE syndrome is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Hyper-IgE syndrome?
Yes — 1 recruiting clinical trial is currently listed for Hyper-IgE syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Hyper-IgE syndrome?
7 specialists and care centers treating Hyper-IgE syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.