Autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency: An adjunctive role for omalizumab

Abstract

Autosomal recessive hyper-IgE syndrome (AR-HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe allergies, and early-onset malignancies, associated with mutations in the gene encoding the dedicator of cytokinesis 8 protein (DOCK8). We report a rare case of AR-HIES with DOCK8 deficiency in a young Japanese male with a past medical history of chronic atopic dermatitis, severe food allergies, and severe herpes simplex virus infection. Treatment was successfully based on infection management, skincare, and dietary elimination. In addition, anti-IgE therapy with omalizumab was the target treatment for this syndrome.