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

  1. Lenz, Dominic
  2. Pahl, Jens
  3. Hauck, Fabian
  4. Alameer, Seham
  5. Balasubramanian, Meena
  6. Baric, Ivo
  7. Boy, Nikolas
  8. Church, Joseph A.
  9. Crushell, Ellen
  10. Dick, Anke
  11. Distelmaier, Felix
  12. Gujar, Jidnyasa
  13. Indolfi, Giuseppe
  14. Lurz, Eberhard
  15. Peters, Bianca
  16. Schwerd, Tobias
  17. Serranti, Daniele
  18. Kölker, Stefan
  19. Klein, Christoph
  20. Hoffmann, Georg F.
  21. Prokisch, Holger
  22. Greil, Johann
  23. Cerwenka, Adelheid
  24. Giese, Thomas
  25. Staufner, Christian ORCID logo

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1000 Titel
  • NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
1000 Autor/in
  1. Lenz, Dominic |
  2. Pahl, Jens |
  3. Hauck, Fabian |
  4. Alameer, Seham |
  5. Balasubramanian, Meena |
  6. Baric, Ivo |
  7. Boy, Nikolas |
  8. Church, Joseph A. |
  9. Crushell, Ellen |
  10. Dick, Anke |
  11. Distelmaier, Felix |
  12. Gujar, Jidnyasa |
  13. Indolfi, Giuseppe |
  14. Lurz, Eberhard |
  15. Peters, Bianca |
  16. Schwerd, Tobias |
  17. Serranti, Daniele |
  18. Kölker, Stefan |
  19. Klein, Christoph |
  20. Hoffmann, Georg F. |
  21. Prokisch, Holger |
  22. Greil, Johann |
  23. Cerwenka, Adelheid |
  24. Giese, Thomas |
  25. Staufner, Christian |
1000 Erscheinungsjahr 2021
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2021-08-13
1000 Erschienen in
1000 Quellenangabe
  • 41(8):1781-1793
1000 Copyrightjahr
  • 2021
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s10875-021-01110-7 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604887/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • 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 CD56!##!Conclusion!#!In summary, we demonstrate that pathogenic biallelic variants in NBAS are associated with dysfunctional NK cells as well as impaired adaptive humoral immunity.
1000 Sacherschließung
lokal NK cell deficiency
lokal Immunologic Deficiency Syndromes/genetics [MeSH]
lokal Gene Expression [MeSH]
lokal Leukocyte Count [MeSH]
lokal Original Article
lokal Infant [MeSH]
lokal Killer Cells, Natural/immunology [MeSH]
lokal Phenotype [MeSH]
lokal inborn error of immunity
lokal Child [MeSH]
lokal
lokal Adolescent [MeSH]
lokal Immunologic Deficiency Syndromes/immunology [MeSH]
lokal Adult [MeSH]
lokal B-Lymphocytes/immunology [MeSH]
lokal Humans [MeSH]
lokal familial hemophagocytic lymphohistiocytosis
lokal Cytokines/immunology [MeSH]
lokal B cell deficiency
lokal Neoplasm Proteins/genetics [MeSH]
lokal Young Adult [MeSH]
lokal Neoplasm Proteins/deficiency [MeSH]
lokal Genotype [MeSH]
lokal vesicle trafficking
lokal Child, Preschool [MeSH]
1000 Liste der Beteiligten
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1000 Erstellt am 2023-04-28T11:59:26.033+0200
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1000 Zuletzt bearbeitet Fri Oct 20 17:25:48 CEST 2023
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