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Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-?.

ABSTRACT: We characterized the NK cell phenotype and function in three family members with Hereditary Hemorrhagic Telangiectasia (HHT) due to heterozygous SMAD4 mutations. Loss-of-function mutation in this gene did not induce developmental effects to alter CD56bright or CD56dim 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-?1. These data suggest that SMAD4 plays a redundant role in downstream TGF-? signaling in NK cells.

SUBMITTER: Healy LP

PROVIDER: S-EPMC6506781 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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

Healy Lachlan P LP Rossi Gustavo R GR Rautela Jai J Slade Charlotte A CA Huntington Nicholas D ND Winship Ingrid M IM Souza-Fonseca-Guimaraes Fernando F

Frontiers in immunology 20190501

We characterized the NK cell phenotype and function in three family members with Hereditary Hemorrhagic Telangiectasia (HHT) due to heterozygous SMAD4 mutations. Loss-of-function mutation in this gene did not induce developmental effects to alter CD56bright or CD56dim 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 th ...[more]

PMID: 31118932

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