Articles with "dock8 gene" as a keyword



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

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Published in 2018 at "Journal of the European Academy of Dermatology and Venereology"

DOI: 10.1111/jdv.14847

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… read more here.

Keywords: family novel; hyper ige; chinese family; novel mutation ... See more keywords