Article

Human IL-2 receptor β mutations associated with defects in immunity and peripheral tolerance

2018-11-26

Abstract excerpt

Interleukin-2, which conveys essential signals for effective immunity and immunological tolerance, operates through a heterotrimeric receptor comprised of α, β and γ chains. Genetic deficiency of the α or γ chain causes debilitating disease. Here we identify human interleukin-2 receptor (IL-2R) β chain (CD122) gene defects as a cause of life-threatening dysregulation of immunity and peripheral tolerance. We report...

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Literature Corpus work: 46b04b8f-204e-5e6c-8983-357d5e0089a5
DOI: 10.1101/476697

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