Whole exome sequencing of trio with primary immunodeficiency (IL2RB)

Study ID Alternative Stable ID Type
EGAS00001003599 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Whole exome paired-end sequencing data was performed on a trio (patient + parents) who has primary immunodeficiency to identify the genetic cause of the immunodeficiency. Analysis revealed a novel homozygous mutation in IL2RB.
unspecified 3

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