> Details
Lenz, Dominic
[Author];
Pahl, Jens
[Author];
Hauck, Fabian
[Author];
Alameer, Seham
[Author];
Balasubramanian, Meena
[Author];
Baric, Ivo
[Author];
Boy, Nikolas
[Author];
Church, Joseph A.
[Author];
Crushell, Ellen
[Author];
Dick, Anke
[Author];
Distelmaier, Felix
[Author];
Gujar, Jidnyasa
[Author];
Indolfi, Giuseppe
[Author];
Lurz, Eberhard
[Author];
Peters, Bianca Isabelle
[Author];
Schwerd, Tobias
[Author];
Serranti, Daniele
[Author];
Kölker, Stefan
[Author];
Klein, Christoph
[Author];
Hoffmann, Georg F.
[Author];
Prokisch, Holger
[Author];
Greil, Johann
[Author];
Cerwenka, Adelheid
[Author];
Giese, Thomas
[Author];
NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency
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- Media type: E-Article
- Title: NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency
- Contributor: Lenz, Dominic [VerfasserIn]; Pahl, Jens [VerfasserIn]; Hauck, Fabian [VerfasserIn]; Alameer, Seham [VerfasserIn]; Balasubramanian, Meena [VerfasserIn]; Baric, Ivo [VerfasserIn]; Boy, Nikolas [VerfasserIn]; Church, Joseph A. [VerfasserIn]; Crushell, Ellen [VerfasserIn]; Dick, Anke [VerfasserIn]; Distelmaier, Felix [VerfasserIn]; Gujar, Jidnyasa [VerfasserIn]; Indolfi, Giuseppe [VerfasserIn]; Lurz, Eberhard [VerfasserIn]; Peters, Bianca Isabelle [VerfasserIn]; Schwerd, Tobias [VerfasserIn]; Serranti, Daniele [VerfasserIn]; Kölker, Stefan [VerfasserIn]; Klein, Christoph [VerfasserIn]; Hoffmann, Georg F. [VerfasserIn]; Prokisch, Holger [VerfasserIn]; Greil, Johann [VerfasserIn]; Cerwenka, Adelheid [VerfasserIn]; Giese, Thomas [VerfasserIn]; Staufner, Christian [VerfasserIn]
-
imprint:
13 August 2021
- Published in: Journal of clinical immunology ; 41(2021), 8, Seite 1781-1793
- Language: English
- DOI: 10.1007/s10875-021-01110-7
- ISSN: 1573-2592
- Identifier:
- Origination:
- Footnote:
- Description: 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.
- Access State: Open Access