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Majmaah J Heal Sci. 2016; 4(1): 77-80


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

Abdullah Mohammad Hamad Al-Olayan.

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.

Key words: Hyper IgE syndrome, DOCK8 Gene


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