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| Verfasst von: | Lenz, Dominic [VerfasserIn]  |
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| | Pahl, Jens [VerfasserIn] |
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| | Hauck, Fabian [VerfasserIn] |
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| | Alameer, Seham [VerfasserIn] |
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| | Balasubramanian, Meena [VerfasserIn] |
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| | Baric, Ivo [VerfasserIn] |
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| | Boy, Nikolas [VerfasserIn] |
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| | Church, Joseph A. [VerfasserIn] |
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| | Crushell, Ellen [VerfasserIn] |
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| | Dick, Anke [VerfasserIn] |
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| | Distelmaier, Felix [VerfasserIn] |
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| | Gujar, Jidnyasa [VerfasserIn] |
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| | Indolfi, Giuseppe [VerfasserIn] |
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| | Lurz, Eberhard [VerfasserIn] |
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| | Peters, Bianca [VerfasserIn] |
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| | Schwerd, Tobias [VerfasserIn] |
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| | Serranti, Daniele [VerfasserIn] |
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| | Kölker, Stefan [VerfasserIn] |
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| | Klein, Christoph [VerfasserIn] |
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| | Hoffmann, Georg F. [VerfasserIn] |
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| | Prokisch, Holger [VerfasserIn] |
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| | Greil, Johann [VerfasserIn] |
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| | Cerwenka, Adelheid [VerfasserIn] |
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| | Giese, Thomas [VerfasserIn] |
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| | Staufner, Christian [VerfasserIn] |
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| Titel: | NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency |
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| Verf.angabe: | Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian, Ivo Baric, Nikolas Boy, Joseph A. Church, Ellen Crushell, Anke Dick, Felix Distelmaier, Jidnyasa Gujar, Giuseppe Indolfi, Eberhard Lurz, Bianca Peters, Tobias Schwerd, Daniele Serranti, Stefan Kölker, Christoph Klein, Georg F. Hoffmann, Holger Prokisch, Johann Greil, Adelheid Cerwenka, Thomas Giese, Christian Staufner |
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| E-Jahr: | 2021 |
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| Jahr: | 13 August 2021 |
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| Umfang: | 12 S. |
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| Fussnoten: | Gesehen am 21.08.2023 |
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| Titel Quelle: | Enthalten in: Journal of clinical immunology |
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| Ort Quelle: | Dordrecht [u.a.] : Springer Science + Business Media B.V, 1981 |
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| Jahr Quelle: | 2021 |
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| Band/Heft Quelle: | 41(2021), 8, Seite 1781-1793 |
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| ISSN Quelle: | 1573-2592 |
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| Abstract: | 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 immune system. - Methods Clinical and laboratory parameters were combined with functional multi-parametric immunophenotyping methods in fifteen NBAS-deficient patients to discover possible alterations in their immune system. - Results Our study revealed reduced absolute numbers of mature C D56dim natural killer (NK) cells. Notably, the residual NK cell population in NBAS-deficient patients exerted a lower potential for activation and degranulation in response to K562 target cells, suggesting an NK cell-intrinsic role for NBAS in the release of cytotoxic granules. NBAS-deficient NK cell activation and degranulation was normalized upon pre-activation by IL-2 in vitro, suggesting that functional impairment was reversible. In addition, we observed a reduced number of naïve B cells in the peripheral blood associated with hypogammaglobulinemia. - Conclusion In summary, we demonstrate that pathogenic biallelic variants in NBAS are associated with dysfunctional NK cells as well as impaired adaptive humoral immunity. |
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| DOI: | doi:10.1007/s10875-021-01110-7 |
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| URL: | kostenfrei: Volltext: https://doi.org/10.1007/s10875-021-01110-7 |
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| | kostenfrei: Volltext: https://link.springer.com/10.1007/s10875-021-01110-7 |
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| | DOI: https://doi.org/10.1007/s10875-021-01110-7 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 1856777766 |
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| Verknüpfungen: | → Zeitschrift |
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| Lokale URL UB: |  Zum Volltext |
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NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency / Lenz, Dominic [VerfasserIn]; 13 August 2021 (Online-Ressource)
