Autosomal recessive hyper IgE syndrome

Disease Overview

Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far.[3563]

In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES.[3563] AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene.[3563][3564]

Synonyms

• DOCK8 deficiency
• Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
• HIES autosomal recessive
• AR-HIES
• AR hyperimmunoglobulin E syndrome
• Hyper Ig E syndrome, autosomal recessive