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

作者：Wang, S.; Mou, W.; Xu, Z.; Gui, J.; Ma, L.^*

来源：Journal of the European Academy of Dermatology and Venereology, 2018, 32(8): E302-E304.

DOI：10.1111/jdv.14847

• IMMUNODEFICIENCY SYNDROME

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.

• 出版日期2018-8
• 单位首都医科大学