Article
Novel mutations of TYK2 leading to divergent clinical phenotypes.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Jan 2022
Lv Ge, Sun Gan, Wu Peilin, Du Xiao, Zeng Ting, Wen Wen, Zhou Lina, An Yunfei, Tang Xuemei, He Tingyan, Zhao Xiaodong, Du Hongqiang
Abstract excerpt
BACKGROUND: TYK2 deficiency is a rare primary immunodeficiency disease caused by loss-of-function mutations of TYK2 gene, which is initially proposed as a subset of hyper-IgE syndrome (HIES). However, accumulating evidence suggests TYK2-deficient patients do not necessarily present with HIES characteristics, indicating a vacuum of knowledge on the exact roles of TYK2 in human immune system. METHOD: Pathogenic...
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