Whole exome sequencing of trio with primary immunodeficiency (IL2RB)

ABSTRACT: 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.

PROVIDER: EGAS00001003599 | EGA |

REPOSITORIES: EGA