Sindromul Hiper-Ige – De La Complexitate Patogenică La Manifestări Clinice

Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency characterized by increased serum IgE levels associated with eczema, recurrent lung and skin in­­fec­­tions and with various connective tissue, skeletal and vas­cu­lar abnormalities. Disease mechanisms involve STAT3 sig­nalling pathway, deficiency of which leads to synthesis of many T helper 1 (Th1) cytokines, such as IFN-γ and TNF-α, and inhibition of proinflammatory and antiinflammatory responses regulated by IL-6 and IL-10. Clinical features of HIES involve the immune system, connective tissue, skeleton, skin and dentition, with variations in severity and timing of onset. The early recognition of HIES can lead to a better treatment of the associated complications.