Whole exome sequencing of trio with primary immunodeficiency (IL2RB)
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资源简介：
A novel homozygous mutation in human IL2RB results in decreased IL-2RB protein expression and dysregulated IL-2/15 signaling. This hypomorphic mutation leads to decreased regulatory T cell frequency and abnormal NK cell compartment, with clinical manifestations of autoimmunity and susceptibility to CMV.EGA study EGAS00001003599
创建时间：
2019-04-16
