Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene

Abstract

The hyper-IgE syndromes (HIES) are complex primary immunodeficiency disorders, including autosomal dominant form (AD-HIES) and recessive form (AR-HIES). Here we describe two boys with AR-HIES in a Chinese family and a novel mutation of DOCK8 gene was identified.The index patient was an 8-year-old boy. He presented with recurrent flexural skin lesions (similar with atopic dermatitis (AD)) for more than 5 years (Fig. 1a,b), and a 6-months history of severe molluscum contagiosum(Fig. 1c) and verruca plana(Fig. 1d). He had repeated respiratory tract infection, nasosinusitis and otitis media every year, with a history of asthma and peanut allergy.

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