Hyperimmunoglobulin E Recurrent Infection Syndrome (also known as Job's syndrome) is a rare genetic disorder characterized by a dysfunctional immune system, leading to recurrent infections, particularly of the skin, lungs, and sinuses. This syndrome is inherited in an autosomal dominant manner.
Individuals with Hyperimmunoglobulin E Recurrent Infection Syndrome typically exhibit elevated levels of immunoglobulin E (IgE) in their blood, hence the name. These high levels of IgE result in an overactive immune response, causing chronic inflammation and allergic reactions.
Symptoms of this syndrome include recurrent bacterial and fungal infections, such as abscesses on the skin and lungs, recurrent pneumonia, chronic sinusitis, and eczema-like skin rashes. Additionally, individuals with Hyperimmunoglobulin E Recurrent Infection Syndrome may experience skeletal abnormalities, such as scoliosis and joint hyperextensibility. Other associated clinical features include characteristic facial appearance with coarse features, retention of primary teeth, and easy bruising.
Diagnosis of Hyperimmunoglobulin E Recurrent Infection Syndrome involves clinical evaluation, assessment of family history, and laboratory tests such as measuring serum IgE levels and genetic testing to confirm mutations in the STAT3 gene, which plays a crucial role in immune regulation.
Treatment of this syndrome focuses primarily on managing infections as they arise, usually through antibiotics and antifungal medications. Additionally, preventative measures such as vaccines and diligent hygiene practices are important to minimize the risk of infections. Genetic counseling is highly recommended for affected individuals and their families, as this syndrome has an autosomal dominant inheritance pattern.
