Job syndrome

What is Job syndrome?

Job syndrome, also called hyper-IgE syndrome, is the name given to a rare inherited immune deficiency characterised by severe infections of the skin and other organs.

What are the clinical features of Job syndrome?

Clinical features of Job syndrome include:

• Variable severity in affected family members
• Rash similar to atopic dermatitis (eczema)
• The rash is often present at birth or within the first few weeks, unlike atopic dermatitis (which appears after 3 months of age)
• Secondary infection with Staphylococcus aureus resulting in crusted dermatitis, folliculitis and abscesses
• Episodes of bronchitis and pneumonia
• Other sites may also become infected including sinuses, ears, teeth and gums
• Mucocutaneous candidiasis
• Pitted scarring of the face
• Bony abnormalites including fractures and scoliosis (twisted spine)
• Dental abnormalities such as double rows of teeth
• Unusual facial appearance
• Very high levels of the ‘allergy’ immunoglobulin IgE in the blood
• High levels of eosinophils in the blood

What is the cause of Job syndrome?

The cause of Job syndrome is unknown but it is thought to be a specific genetic abnormality affecting chromosome 4q. The result is a defective immune response involving T lymphocytes, neutrophils and the cytokines they produce, especially interferon-gamma. Excessive levels of interferon-gamma result in marked elevation of immunoglobulin E.

What is the treatment for Job syndrome?

There is no known cure for Job syndrome. Antibiotics are used to control bacterial infections, often requiring a longer course of treatment than is usually necessary. Several doctors from different specialties may need to help care for affected children.