چکیده انگلیسی:
Hyper IgE syndromes are groups of primary immunodeficiency diseases which present with a series of symptoms including recurrent infections accompanied by elevated serum IgE level and some atopic features. Both autosomal dominant and recessive mutations may cause hyper IgE syndrome. The autosomal dominant forms are mutations in signal transducer and activator of transcription3 (STAT3), ERBB2 and CARD11. The recessive forms are mutations in dedicator of cytokinesis8 (DOCK8) , phosphoglucomutase3 (PGM3) , thyrosin kinase2 (TYK2) and interleukin-6 ST. There are some features that help distinguish among different types of hyper IgE syndrome. In autosomal dominant form, connective tissue, skeletal and vascular abnormalities are prominent. In autosomal recessive form, viral infections, malignancies and neurological disorders are more prominent. The definite diagnosis is made by mutation analysis.
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