Severe congenital thrombocytopenia characterized by decreased platelet sialylation and moderate complement activation caused by novel compound heterozygous variants in GNE
MOLECULAR IMMUNOLOGY(2022)
Abstract
We report two previously undescribed variants in causing severe congenital macrothrombocytopenia in a compound heterozygous state, as a consequence of decreased platelet sialylation. The decreased sialylation of platelets, leukocytes and erythrocytes affects the binding of FH, leading to moderate complement activation and increased hemolysis.
MoreTranslated text
Key words
GNE,complement activation,factor H,high-throughput nucleotide sequencing,sialic acid,sialylation,thrombocytopenia
AI Read Science
Must-Reading Tree
Example
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined