M293 MORE THAN SKIN DEEP: SEVERE DERMATITIS, ELEVATED IGE, AND EOSINOPHILIA WITH HETEROZYGOUS DOCK8 MUTATIONS

Abstract

Hyper IgE syndromes (HIES) are a group of primary immunodeficiencies characterized by elevated IgE, severe dermatitis, and recurrent skin and sinopulmonary infections. DOCK8 deficiency is an autosomal recessive type of HIES. We present two patients with atopic dermatitis, elevated IgE level, and eosinophilia consistent with DOCK8 deficiency, both found to have a heterozygous variant of uncertain significance (VUS) in DOCK8.