A Review on Hyper-IgE Syndromes: Clinical Manifestations, Diagnosis and Therapeutic Approaches

Hyper IgE syndromes are classified as groups of primary immunodeficiency diseases, which are presented 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 lead to hyper IgE syndrome. The autosomal dominant forms are mutations in signal transducer and activators of transcription3 (STAT3), Erb-B2 Receptor Tyrosine Kinase 2 (ERBB2) and caspase recruitment domain family, member 11 (CARD11). The recessive forms are mutations in dedicator of cytokinesis8 (DOCK8), phosphoglucomutase3 (PGM3), Tyrosine kinase2 (TYK2) and interleukin-6 ST. moreover, there are some features that help distinguishing different types of hyper IgE syndrome. Connective tissue, skeletal and vascular abnormalities are prominent in autosomal dominant form, while in autosomal recessive form, viral infections, malignancies and neurological disorders are more prominent. The definite diagnosis is made by mutation analysis.