NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

PURPOSE: Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how NBAS-associated disease affects cells of the innate and adaptive...

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Detalles Bibliográficos
Autores principales: Lenz, Dominic, Pahl, Jens, Hauck, Fabian, Alameer, Seham, Balasubramanian, Meena, Baric, Ivo, Boy, Nikolas, Church, Joseph A., Crushell, Ellen, Dick, Anke, Distelmaier, Felix, Gujar, Jidnyasa, Indolfi, Giuseppe, Lurz, Eberhard, Peters, Bianca, Schwerd, Tobias, Serranti, Daniele, Kölker, Stefan, Klein, Christoph, Hoffmann, Georg F., Prokisch, Holger, Greil, Johann, Cerwenka, Adelheid, Giese, Thomas, Staufner, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604887/
https://www.ncbi.nlm.nih.gov/pubmed/34386911
http://dx.doi.org/10.1007/s10875-021-01110-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604887/
https://www.ncbi.nlm.nih.gov/pubmed/34386911
http://dx.doi.org/10.1007/s10875-021-01110-7

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