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Hyper IgE syndrome (HIES) is a medical condition that can be sporadic or hereditary. It consists of multiple overlapping primary immunodeficiency conditions and is characterized by a classical triad of high immunoglobulin E (IgE) levels, recurrent pneumonia with pneumatocele and recurrent cold skin abscesses from staphylococcus infections. Eosinophilia is also common in HIES patients. HIES is often underdiagnosed in Syria as it cannot be confirmed without genetic testing, which is unavailable across Syria for HIES. We present the first case from Syria of a suspected child with HIES that has some additional distinct features. Other cases in a regional country carried atypical novel mutations, which may indicate that these mutations may exist in Syria as well. However, our case had findings that were not reported with other HIES cases. Determining these genes in the case presented was not possible, and future studies need to overcome this hurdle.
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document_parses/pdf_json/48cac9c98f69ebafaeb111e69f0f6b9ac78c12d1.json
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document_parses/pmc_json/PMC7685025.xml.json
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Hyper IgE syndrome (Job syndrome) in Syria: a case report
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