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

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

doi:10.3389/fimmu.2019.00904

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

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

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4 Citations (Scopus)

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-β1. These data suggest that SMAD4 plays a redundant role in downstream TGF-β signaling in NK cells.

Original language	English
Article number	904
Number of pages	8
Journal	Frontiers in Immunology
Volume	10
DOIs	https://doi.org/10.3389/fimmu.2019.00904
Publication status	Published - 1 May 2019

Keywords

CD56bright/dim subsets
Hereditary Hemorrhagic Telangiectasia
loss-of-function mutations
NK cell
SMAD4
TGF-β signaling

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

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-β1. These data suggest that SMAD4 plays a redundant role in downstream TGF-β signaling in NK cells.",

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T1 - Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β

AU - Healy, Lachlan P.

AU - Rossi, Gustavo R.

AU - Rautela, Jai

AU - Slade, Charlotte A.

AU - Huntington, Nicholas D.

AU - Winship, Ingrid M.

AU - Souza-Fonseca-Guimaraes, Fernando

PY - 2019/5/1

Y1 - 2019/5/1

N2 - 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 that SMAD4 plays a redundant role in downstream TGF-β signaling in NK cells.

AB - 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 that SMAD4 plays a redundant role in downstream TGF-β signaling in NK cells.

KW - CD56bright/dim subsets

KW - Hereditary Hemorrhagic Telangiectasia

KW - loss-of-function mutations

KW - NK cell

KW - SMAD4

KW - TGF-β signaling

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DO - 10.3389/fimmu.2019.00904

M3 - Article

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AN - SCOPUS:85066481650

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VL - 10

JO - Frontiers in Immunology

JF - Frontiers in Immunology

M1 - 904

ER -

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

Abstract

Keywords

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