[New point variation of DOCK8 gene in hyper IgE syndrome]

X F Xu; Y J Sheng; X F Tao; Y N Shao; L F Tang; Z M Chen

doi:10.3760/cma.j.issn.0578-1310.2019.03.015

[New point variation of DOCK8 gene in hyper IgE syndrome]

Zhonghua Er Ke Za Zhi. 2019 Mar 2;57(3):227-229. doi: 10.3760/cma.j.issn.0578-1310.2019.03.015.

[Article in Chinese]

Authors

X F Xu¹, Y J Sheng, X F Tao, Y N Shao, L F Tang, Z M Chen

Affiliation

¹ Department of Respiratory Medicine, the Children's Hospital of Zhejiang University School of Medicine, Hangzhou 310052, China.

PMID: 30818903
DOI: 10.3760/cma.j.issn.0578-1310.2019.03.015

Abstract

1例临床表现为湿疹样皮肤损害、反复呼吸道感染以及血IgE水平升高等症状的患儿，综合临床表现、辅助检查以及基因检测等确诊为高IgE综合征。该患儿的基因检测为DOCK8基因第38号外显子有1个纯合变异：c.4886 G>A，导致氨基酸改变p.R1629K。已有文献显示DOCK8基因变异以缺失为主，第38号外显子变异未见报道。.