Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

Abstract

Mutations in the transcription factor GATA2 underlie the syndrome of monocytopenia and B- and natural killer (NK)-cell lymphopenia associated with opportunistic infections and cancers. In addition, patients have recurrent and severe viral infections. NK cells play a critical role in mediating antiviral immunity. Human NK cells are thought to mature in a… (More)
DOI: 10.1182/blood-2012-09-453969

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