Hyper-IgE syndrome update

Abstract

Autosomal dominant hyper-IgE syndrome (AD-HIES) or Job's syndrome is a primary immunodeficiency with a wide array of clinical features caused by dominant negative mutations in STAT3. In recent years, not only the clinical phenotype of the disease has been expanded with recognition of features such as arterial aneurysms, but also our understanding of the pathogenesis of the disease has greatly improved.

Conflict of interest statement

Conflicts of interest: The authors declare no conflicts of interest.

© 2012 New York Academy of Sciences.

Figures

Figure 1

Chest CT showing pneumatoceles with aspergilloma (arrow) in a 40-year-old woman.

Figure 2

(A) Cervical spine disease in a 55-year-old woman. (B) Severe scoliosis is seen in >50% of AD-HIES individuals.