Clinical manifestations of different types of gene mutations in hyper-IgE syndrome / 国际儿科学杂志

ABSTRACT

Hyper-IgE syndrome (HIES)is a complex primary immunodeficiency characterized by extremely high serum IgE levels, while presented a normal level of other immunoglobulins (IgG, IgA and IgM).Recent studies demonstrated that gene mutations, namely STAT3,Tyk2 or DOCK8 gene mutations, are the main mechanism of HIES.The clinical manifestations in HIES are significantly different in patients with different gene mutation.Therefore, investigation of the clinical manifestations caused by various gene mutations is very important, because it is beneficial not only for the clinical diagnosis and therapeutic evaluation, but also for scientific research.