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Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression

BACKGROUND: Adenosine deaminase 2 (ADA2) is a homodimeric, extracellular enzyme and putative growth factor that is produced by cells of the myeloid lineage and, catalytically, deaminates extracellular adenosine to inosine. Loss-of-(catalytic)-function variants in the ADA2 gene are associated with De...

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Detalles Bibliográficos
Autores principales:	Bowers, Sarah M., Sundqvist, Martina, Dancey, Paul, Cabral, David A., Brown, Kelly L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9562767/ https://www.ncbi.nlm.nih.gov/pubmed/36248868 http://dx.doi.org/10.3389/fimmu.2022.995191

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