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

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 CD56(bright) or CD56(dim) NK cell subset proportions...

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Detalles Bibliográficos
Autores principales: Healy, Lachlan P., Rossi, Gustavo R., Rautela, Jai, Slade, Charlotte A., Huntington, Nicholas D., Winship, Ingrid M., Souza-Fonseca-Guimaraes, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506781/
https://www.ncbi.nlm.nih.gov/pubmed/31118932
http://dx.doi.org/10.3389/fimmu.2019.00904
Descripción
Sumario: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 CD56(bright) or CD56(dim) 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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