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.
Key words: Hyper IgE syndrome, DOCK8 Gene
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