Article
Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine.
Journal of clinical immunology - 1 Aug 2023
Li Wenhui, Sun Yuting, Yu Lang, Chen Ran, Gan Rui, Qiu Luyao, Sun Gan, Chen Junjie, Zhou Lina, Ding Yuan, Du Hongqiang, Shu Zhou, Zhang Zhiyong, Tang Xuemei, Chen Yongwen, Zhao Xiaodong, Zhao Qin, An Yunfei
Abstract excerpt
The dedicator of cytokinesis 2(DOCK2) protein, an atypical guanine nucleotide exchange factor (GEFs), is a member of the DOCKA protein subfamily. DOCK2 protein deficiency is characterized by early-onset lymphopenia, recurrent infections, and lymphocyte dysfunction, which was classified as combined immune deficiency with neutrophil abnormalities as well. The only cure is hematopoietic stem cell transplantation....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.