AUTHOR=Healy Lachlan P. , Rossi Gustavo R. , Rautela Jai , Slade Charlotte A. , Huntington Nicholas D. , Winship Ingrid M. , Souza-Fonseca-Guimaraes Fernando 

TITLE=Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β

JOURNAL=Frontiers in Immunology

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2019.00904

DOI=10.3389/fimmu.2019.00904

ISSN=1664-3224

ABSTRACT=<p>We characterized the NK cell phenotype and function in three family members with Hereditary Hemorrhagic Telangiectasia (HHT) due to heterozygous <italic>SMAD4</italic> mutations. Loss-of-function mutation in this gene did not induce developmental effects to alter CD56<sup>bright</sup> or CD56<sup>dim</sup> NK cell subset proportions in peripheral blood; and did not result in major differences in either their IL-15-induced proliferation, or their cytokine secretion response to TGF-β1. These data suggest that <italic>SMAD4</italic> plays a redundant role in downstream TGF-β signaling in NK cells.</p>