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Scientific paper - Case study
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Journal of Clinical Immunology, 41 (2021), 8; 1781-1793. https://doi.org/10.1007/s10875-021-01110-7
Lenz, Dominic; Pahl, Jens; Hauck, Fabian; Alameer, Seham; Balasubramanian, Meena; Barić, 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 More authors...

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Lenz, D., Pahl, J., Hauck, F., Alameer, S., Balasubramanian, M., Barić, I. ... Staufner, C. (2021). NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency. Journal of Clinical Immunology, 41. (8), 1781-1793. doi: 10.1007/s10875-021-01110-7

Lenz, Dominic, et al. "NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency." Journal of Clinical Immunology, vol. 41, no. 8, 2021, pp. 1781-1793. https://doi.org/10.1007/s10875-021-01110-7

Lenz, Dominic, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian, Ivo Barić, Nikolas Boy, et al. "NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency." Journal of Clinical Immunology 41, no. 8 (2021): 1781-1793. https://doi.org/10.1007/s10875-021-01110-7

Lenz, D., et al. (2021) 'NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency', Journal of Clinical Immunology, 41(8), pp. 1781-1793. doi: 10.1007/s10875-021-01110-7

Lenz D, Pahl J, Hauck F, Alameer S, Balasubramanian M, Barić I, and sur.. NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency. Journal of Clinical Immunology [Internet]. 2021 November [cited 2024 November 30];41(8):1781-1793. doi: 10.1007/s10875-021-01110-7

D. Lenz, et al., "NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency", Journal of Clinical Immunology, vol. 41, no. 8, pp. 1781-1793, November 2021. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:790670. [Accessed: 30 November 2024]

Metadata
Title (english)NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
AuthorDominic Lenz
AuthorJens Pahl
AuthorFabian Hauck
AuthorSeham Alameer
AuthorMeena Balasubramanian
AuthorIvo Barić
AuthorNikolas Boy
AuthorJoseph A. Church
AuthorEllen Crushell
AuthorAnke Dick
AuthorFelix Distelmaier
AuthorJidnyasa Gujar
AuthorGiuseppe Indolfi
AuthorEberhard Lurz
AuthorBianca Peters
AuthorTobias Schwerd
AuthorDaniele Serranti
AuthorStefan Kölker
AuthorChristoph Klein
AuthorGeorg F. Hoffmann
AuthorHolger Prokisch
AuthorJohann Greil
AuthorAdelheid Cerwenka
AuthorThomas Giese
AuthorChristian Staufner
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
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 CD56dim 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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleJournal of Clinical Immunology
Numberingvol. 41, no. 8, pp. 1781-1793
p-ISSN0271-9142
e-ISSN1573-2592
DOIhttps://doi.org/10.1007/s10875-021-01110-7
URN:NBNurn:nbn:hr:105:790670
Publication2021-11
Document URLhttps://link.springer.com/10.1007/s10875-021-01110-7
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2022-05-17 11:08:18