A Two Homozygous Mutations in DOCK8 Gene in Saudi Infant with Hyper IgE Syndrome

Abstract

Hyper IgE syndrome (HIES) is a form of primary immunodeficiency associated with eczema, sinopulmonary infections, and elevated serum IgE. The majority of cases are sporadic but autosomal dominant and recessive forms are identified. We report a one year old Saudi girl with two homozygous mutations in DOCK8 Gene.