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Quantitative und qualitative Defekte neutrophiler Granulozyten

Quantitative and qualitative defects of neutrophilic granulocytes

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Zusammenfassung

Neutrophile Granulozyten spielen als phagozytierende Zellen eine wichtige Rolle bei der Abwehr mikrobieller Erreger und bei der Orchestrierung von Entzündungsprozessen. Die Untersuchung monogener Defekte neutrophiler Granulozyten hat wichtige Einsichten in die Funktion des angeborenen Immunsystems ermöglicht. Die schwere kongenitale Neutropenie wird durch eine verringerte Zahl neutrophiler Granulozyten im peripheren Blut definiert und durch Mutationen in ELANE/ELA2, HAX1, GFI1, WASP oder G6PC3 verursacht. Qualitative Defekte der neutrophilen Granulozyten betreffen ihre Migration, Aktivierbarkeit oder ihre Kompetenz zur Eliminierung von Pathogenen in Phagosomen. Klinisch manifestieren sich diese Störungen als Leukozytenadhäsionsdefekte (ITGB2, SLC35C1, FERMT3) oder als chronische Granulomatose (CYBB, NCF1, NCF2, CYBA).

Abstract

Neutrophilic granulocytes constitute the body’s first line of defence against bacterial and fungal pathogens and orchestrate the inflammatory response. The analysis of monogenic defects of neutrophilic granulocytes has yielded important insights into mechanisms of the innate immune system. Severe congenital neutropenia is defined by decreased numbers of absolute neutrophil counts and may be caused by mutations in ELANE/ELA2, HAX1, GFI1, WASP or G6PC3. Qualitative defects of neutrophilic granulocytes affect migration, activation and bacterial killing capacity which are manifested clinically as leukocyte adhesion deficiencies I-III andchronic granulomatous disease.

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Authors and Affiliations

  1. Klinik für Pädiatrische Hämatologie und Onkologie, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland

    K. Boztug &  C. Klein

  2. Immunologische Ambulanz, Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, Dresden, Deutschland

    F.H. Hauck

  3. Abteilung für Kinderheilkunde, Krankenhaus St. Josef Braunau, Braunau, Österreich

    U. Wintergerst

Authors
  1. K. Boztug
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  2. F.H. Hauck
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  3. U. Wintergerst
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  4. C. Klein
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Correspondence to C. Klein.

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Boztug, K., Hauck, F., Wintergerst, U. et al. Quantitative und qualitative Defekte neutrophiler Granulozyten. Monatsschr Kinderheilkd 157, 861–869 (2009). https://doi.org/10.1007/s00112-009-1986-x

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  • DOI: https://doi.org/10.1007/s00112-009-1986-x

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