A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report
نویسندگان
چکیده
منابع مشابه
A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report.
Hyper-immunoglobulin E syndrome (HIES) is a rare immunologic disorder. This syndrome is caused by mutations in signal transducer and activator of transcription 3 gene. The described case report showed clinical HIES features such as recurrent bacterial pneumonia, lung cysts, characteristic facial features and a newborn dermatitis. We found a clinical features score of 35 and a positive family hi...
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Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities. Itis reported that some cases of familial HIES are relativ...
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ژورنال
عنوان ژورنال: Journal of Pediatric Genetics
سال: 2015
ISSN: 2146-4596,2146-460X
DOI: 10.3233/pge-13053