Overview
Autosomal dominant hyper-IgE syndrome (AD-HIES) due to STAT3 deficiency, also known as Job syndrome, is a rare primary immunodeficiency caused by dominant-negative mutations in the STAT3 gene. This multisystem disorder affects the immune system, skeleton, connective tissue, and vasculature. It is characterized by the classic triad of markedly elevated serum IgE levels, recurrent staphylococcal skin abscesses, and recurrent pneumonias that frequently lead to pneumatoceles (lung cysts). The condition was historically called Job syndrome because of the severe boils reminiscent of the biblical figure Job. Beyond immunological features, patients typically develop distinctive facial features (broad nose, deep-set eyes, prominent forehead), retained primary teeth, scoliosis, bone fractures following minimal trauma (pathologic fractures), joint hyperextensibility, and craniosynostosis. Eczema usually presents in the neonatal period as a newborn rash. Mucocutaneous candidiasis is also common. Vascular abnormalities including coronary artery aneurysms and brain white matter abnormalities have been increasingly recognized. The recurrent lung infections, often caused by Staphylococcus aureus, Haemophilus influenzae, and Aspergillus species, can result in significant structural lung damage over time. Treatment is primarily supportive and includes long-term prophylactic antibiotics (typically trimethoprim-sulfamethoxazole) and antifungal agents to prevent bacterial and fungal infections. Aggressive management of skin care and eczema is important. Surgical intervention may be needed for pneumatoceles, scoliosis, or retained teeth. Hematopoietic stem cell transplantation (HSCT) has been explored in some patients with variable outcomes, and its role remains under investigation. There is no definitive cure, and lifelong monitoring and infection prophylaxis are essential for improving quality of life and survival.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventNational Institute of Allergy and Infectious Diseases (NIAID) — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency.
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 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency.
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Common questions about Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
What is Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency?
Autosomal dominant hyper-IgE syndrome (AD-HIES) due to STAT3 deficiency, also known as Job syndrome, is a rare primary immunodeficiency caused by dominant-negative mutations in the STAT3 gene. This multisystem disorder affects the immune system, skeleton, connective tissue, and vasculature. It is characterized by the classic triad of markedly elevated serum IgE levels, recurrent staphylococcal skin abscesses, and recurrent pneumonias that frequently lead to pneumatoceles (lung cysts). The condition was historically called Job syndrome because of the severe boils reminiscent of the biblical fig
How is Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency inherited?
Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency typically begin?
Typical onset of Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency?
Yes — 1 recruiting clinical trial is currently listed for Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.