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Start Over "Immunophenotyping methods" Topic familial hemophagocytic lymphohistiocytosis Topic immune system
2 results on '"Immunophenotyping methods"'

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

Author

Lenz, Dominic, Pahl, Jens, Hauck, Fabian, Alameer, Seham, Balasubramanian, Meena, Baric, 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, and Hoffmann, Georg F.

Subjects
KILLER cells, B cells, CELL populations, HUMORAL immunity, IMMUNE system
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 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. [ABSTRACT FROM AUTHOR]

Published
2021
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2. NBAS variants are associated with quantitative and qualitative NK and B cell deficiency

Author

Seham Alameer, Tobias Schwerd, Giuseppe Indolfi, Joseph A. Church, Adelheid Cerwenka, Dominic Lenz, Ivo Barić, Jidnyasa Gujar, Thomas Giese, Johann Greil, Christian Staufner, Jens Pahl, Felix Distelmaier, Georg F. Hoffmann, Eberhard Lurz, Nikolas Boy, Anke Dick, Bianca Peters, Ellen Crushell, Holger Prokisch, Christoph Klein, Meena Balasubramanian, Stefan Kölker, Fabian Hauck, and Daniele Serranti

Subjects
Adult, Adolescent, Genotype, Immunology, Naive B cell, Population, Gene Expression, Biology, B-Lymphocytes / immunology, Immunologic Deficiency Syndromes / genetics, Leukocyte Count, Young Adult, Immune system, Immunophenotyping, Neoplasm Proteins / genetics, inborn error of immunity, Immunology and Allergy, Cytotoxic T cell, Humans, NBAS, education, B cell deficiency, Child, Cytokines / immunology, Killer Cells, Natural / immunology, Immunologic Deficiency Syndromes / immunology, education.field_of_study, B-Lymphocytes, NK cell deficiency, familial hemophagocytic lymphohistiocytosis, vesicle trafficking, B Cell Deficiency, Familial Hemophagocytic Lymphohistiocytosis, Inborn Error Of Immunity, Nbas, Nk Cell Deficiency, Vesicle Trafficking, Degranulation, Immunologic Deficiency Syndromes, Infant, Acquired immune system, Neoplasm Proteins, Killer Cells, Natural, Phenotype, Child, Preschool, Neoplasm Proteins / deficiency, Humoral immunity, Cytokines, Original Article
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 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.

Published
2021

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