Hyper IgE Syndrome, also known as Job's syndrome, is a rare primary immunodeficiency disorder characterized by recurrent infections and elevated levels of immunoglobulin E (IgE). This genetic condition is caused by mutations in genes associated with the immune system, particularly STAT3 gene mutations.
Individuals with Hyper IgE Syndrome typically experience recurrent bacterial and fungal infections of the skin, lungs, and other mucous membranes. Symptoms often manifest early in life and may include eczema, abscesses, pneumonia, sinusitis, and severe allergies. These infections can be difficult to treat and may recur frequently.
In addition to the increased susceptibility to infections, individuals with Hyper IgE Syndrome may present with distinctive physical features such as coarse facial appearance, deep-set eyes, a broad nasal bridge, and minimal tooth decay. Connective tissue abnormalities and skeletal manifestations like scoliosis and joint hyperextensibility may also be observed.
Diagnosis of Hyper IgE Syndrome involves clinical evaluation, assessment of IgE levels, and genetic testing to identify underlying STAT3 gene mutations. Treatment mainly focuses on managing and preventing infections. Antibiotics, antifungal medications, and immunoglobulin replacement therapy are commonly employed to control and prevent recurrent infections.
Overall, Hyper IgE Syndrome is a complex immune disorder characterized by recurrent infections, high IgE levels, and physical abnormalities. Although it cannot be cured, prompt diagnosis and appropriate management can help improve the quality of life for individuals with this condition. Genetic counseling may also be beneficial for affected individuals and their families to discuss prognosis and potential inheritance patterns.
