Definition:

Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. One of the involved genes in pathogenesis of HIES is STAT3 that causes autosomal dominant type. In most sporadic and autosomal dominant cases, the HIES is part of a multisystem disorder including abnormalities of the soft tissue, skeletal, and dental systems. In contrast, those with autosomal recessive-HIES have severe molluscum contagiosum and viral infections and may develop severe neurological complications. Recently, It has been reported that mutations in DOCK8, TYK2, and PGM3 cause autosomal recessive HIES.