Hyper IGE Syndrome
What is it?
Hyper IgE Syndrome is a rare primary immunodeficiency disease. It can be sporadic, autosomal dominant- STAT3 mutation, or autosomal recessive- DOCK8 mutation and other less common mutations. This disorder is characterized by recurrent skin abscesses, lung infection, and eczema. Patients have eosinophilia in blood tests and high serum levels of IgE. The autosomal dominant form is also known as Job syndrome.
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Signs & symptoms
Hyper IgE syndrome symptoms may include frequent skin infections, abcesses in the skin or lungs, dry and itchy skin, recurrent pneumonias, yeast infections, elevated IgE levels. For those who have a STAT3 mutation, symptoms may include - delay in losing primary teeth, higher risk of fractures, scoliosis, lymphomas and aneurysms. For those who have a DOCK8 mutation, symptoms may include - asthma, warts, molluscum, skin herpes, skin cancer and lymphoma.
Diagnosis
The hallmark for diagnosis is elevated IgE concentration in serum- greater than 2,000 IU/mL. Eosinophilia is also present in blood work. Genetic testing is available for confirmation of the disease and finding the mutation.
Treatment
Patients who have hyper IgE are usually treated with prophylactic antibiotic treatment to prevent staphylococcal infections. Maintaining skin hygiene is important as well. In the cases of severe eczema topical moisturizing creams and limited use of topical steroids can help achieve healing. In order to reduce bacterial burden in the skin, antiseptic treatments of the skin are recommended. For carriers of the DOCK8 mutation, bone marrow transplantation is curative and is recommended given the severity of the disease and the life-long risk of developing fatal complications. Other supportive treatment is recommended according to the patient’s symptoms.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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