Clinical manifestations of different types of gene mutations in hyper-IgE syndrome / 国际儿科学杂志
International Journal of Pediatrics
; (6): 681-684,692, 2015.
Article
en Zh
| WPRIM
| ID: wpr-603024
Biblioteca responsable:
WPRO
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.
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WPRIM
Idioma:
Zh
Revista:
International Journal of Pediatrics
Año:
2015
Tipo del documento:
Article