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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 Više autora...

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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, br. 8, 2021, str. 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, br. 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), str. 1781-1793. doi: 10.1007/s10875-021-01110-7

Lenz D, Pahl J, Hauck F, Alameer S, Balasubramanian M, Barić I, i sur.. NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency. Journal of Clinical Immunology [Internet]. 11.2021. [pristupljeno 19.12.2024.];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, br. 8, str. 1781-1793, Studeni 2021. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:790670. [Citirano: 19.12.2024.]

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Podaci o radu
Naslov (engleski)NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
AutorDominic Lenz
AutorJens Pahl
AutorFabian Hauck
AutorSeham Alameer
AutorMeena Balasubramanian
AutorIvo Barić
AutorNikolas Boy
AutorJoseph A. Church
AutorEllen Crushell
AutorAnke Dick
AutorFelix Distelmaier
AutorJidnyasa Gujar
AutorGiuseppe Indolfi
AutorEberhard Lurz
AutorBianca Peters
AutorTobias Schwerd
AutorDaniele Serranti
AutorStefan Kölker
AutorChristoph Klein
AutorGeorg F. Hoffmann
AutorHolger Prokisch
AutorJohann Greil
AutorAdelheid Cerwenka
AutorThomas Giese
AutorChristian Staufner
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Prikaz slučaja
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaJournal of Clinical Immunology
Brojčani podacivol. 41, br. 8, str. 1781-1793
p-ISSN0271-9142
e-ISSN1573-2592
DOIhttps://doi.org/10.1007/s10875-021-01110-7
URN:NBNurn:nbn:hr:105:790670
Datum objave publikacije2021-11
URL dokumentahttps://link.springer.com/10.1007/s10875-021-01110-7
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2022-05-17 11:08:18