Hyper IgE Syndrome

This chapter discusses the background, diagnosis, treatment, and prognosis for hyper IgE syndrome (HIES). HIES is a primary antibody immunodeficiency characterized by recurrent “cold” staphylococcal infections, severe eczema, pneumonia that can result in pneumatoceles, and elevated concentrations of serum IgE. Affected patients often have coarse facial features, skeletal, vascular, and connective tissue abnormalities. Laboratory levels of IgE typically range from 2000 to greater than 50 000 IU/mL and variable eosinophilia. Mutations in the STAT3 signaling protein have been identified in both the sporadic and familial forms of HIES. The management of HIES focuses on skin care and prevention of infection, often with prophylactic administration of trimethoprim-sulfamethoxazole. IFN-γ has been used in the setting of life-threatening infections. Patients survive into adulthood but lifespan may be shortened secondary to complications. Pulmonary complications including pneumatoceles and bronchiectasis contribute to the majority of mortality in patients with HIES.