Hyper IgE Syndrome (HIES) is a rare primary immunodeficiency disorder characterized by extremely elevated immunoglobulin E levels, recurrent skin abscesses, and severe lung infections. It is caused by genetic mutations that disrupt immune system regulation, most commonly in the STAT3 gene. The IgE blood test is the most important test for diagnosis, as HIES patients typically have levels exceeding 2,000 IU/mL, which is 10-50 times higher than normal.
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Hyper IgE Syndrome is caused by genetic mutations that affect how your immune system works, most commonly mutations in the STAT3 gene for autosomal dominant HIES or DOCK8 gene for autosomal recessive HIES. These genetic defects disrupt the normal communication between immune cells, leading to an overproduction of immunoglobulin E antibodies and weakened defenses against certain bacteria and fungi. The condition is usually inherited from parents or occurs as a new spontaneous mutation, and it affects multiple body systems including the skin, lungs, bones, and teeth.
The IgE blood test is the most important test for Hyper IgE Syndrome because it measures the total immunoglobulin E levels in your blood, which are dramatically elevated in this condition, typically exceeding 2,000 IU/mL compared to normal levels below 100 IU/mL. This test is essential for diagnosis when you have the characteristic symptoms of recurrent skin abscesses and severe pneumonia. While the IgE test is the primary diagnostic tool, your doctor may also order additional tests including a complete blood count to check eosinophil levels, genetic testing to identify specific mutations in STAT3 or DOCK8 genes, and immune function studies to evaluate how your white blood cells respond to infections.
You should get tested if you experience recurrent skin abscesses or boils that keep coming back despite treatment, frequent pneumonia or lung infections that develop into cysts or cavities, severe eczema that started in infancy and does not respond well to typical treatments, repeated sinus or ear infections, or bone fractures from minor injuries. Testing is especially important if you have a family history of similar immune problems or if you notice these symptoms starting in childhood. Early diagnosis helps prevent serious complications like permanent lung damage and allows for better management of infections before they become life-threatening.
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What this means
Your IgE levels are elevated, which indicates your immune system is overreacting to allergens in your environment or diet. This can explain symptoms like frequent sneezing, itchy eyes, skin rashes, or breathing difficulties. While elevated IgE doesn't pinpoint specific allergens, it confirms you have an active allergic response that may benefit from further investigation and management.
Recommended actions
Keep a symptom diary to identify potential allergen triggers like foods, pollen, or pet dander
Reduce exposure to common allergens by using air purifiers and hypoallergenic bedding
Include anti-inflammatory foods like fish, berries, and leafy greens in your diet
Consider specific allergy testing to identify exact triggers and discuss treatment options with an allergist
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