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Whole exome sequencing of trio with primary immunodeficiency (IL2RB)

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.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001004963 unspecified 3
Publications Citations
A novel human <i>IL2RB</i> mutation results in T and NK cell-driven immune dysregulation.
J Exp Med 216: 2019 1255-1267
31