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.