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Blood and immune system diseases

Autosomal dominant hyper-IgE syndrome (Job syndrome)

An inherited disease that affects the immune system, the skin and the bones. Skin and lung infections are frequent. A protein called IgE is very high in the blood.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Blood and immune system diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

In most people, the cause is a change in a gene called STAT3. This gene helps some immune cells to mature. When these cells are missing, the body is weak against bacteria and fungi. The bones and teeth can also be affected.

Which symptoms can occur?

Symptoms usually begin in infancy. They may include:

  • Eczema and skin rash (common)
  • Frequent skin abscesses, which are pockets of pus (common)
  • Frequent pneumonia; air-filled spaces can form in the lungs
  • Fungal infection in the mouth or nails
  • Baby teeth falling out late
  • Very flexible joints, curvature of the spine and bones that break easily

How is it diagnosed?

The IgE level in the blood is measured; in most people it is very high. But this alone does not make the diagnosis. The diagnosis is confirmed with a genetic test of the STAT3 gene.

Treatment and care

The aim is to prevent infections and treat them quickly. Preventive antibiotics and, if needed, antifungal medicine are given. Some people need antibody replacement therapy. Regular skin care can reduce abscesses. Abscesses are drained if needed. In severe cases, bone marrow transplant has helped some people. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

Inheritance is dominant. For each child of an affected parent, the chance is 1 in 2. In half of cases, the gene change is new; there are no other affected family members. A similar condition linked to the ZNF341 gene, however, is passed on recessively. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Autosomal dominant hyper-IgE syndrome · Immune Deficiency Foundation: Hyper IgE syndromes · Orphanet: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency (ORPHA:2314)

Key facts

How common is it?
New cases per year: 1-9 per 1 000 000 (Europe) · Prevalence: 1-9 per 100 000 (Europe)
How is it inherited?
Autosomal dominant
When does it usually start?
Infancy, Newborn period
Gene(s) involved
STAT3

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Hyper-IgE (Job)

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 2 active interventional studies for this disease. 1 is recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Blood and immune system diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:2314

No separate ICD-11 code; WHO classifies this disease under: 4A01.34

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.