Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations-Reference-Cited by-同舟云学术

Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations

Published:2013-07-04 Issue:1 Volume:122 Page:109-111
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Zhao Xi Wen¹,Gazendam Roel P.¹,Drewniak Agata¹,van Houdt Michel¹,Tool Anton T. J.¹,van Hamme John L.¹,Kustiawan Iwan²,Meijer Alexander B.³⁴,Janssen Hans⁵,Russell David G.⁶,van de Corput Lisette⁷,Tesselaar Kiki⁷,Boelens Jaap J.⁸,Kuhnle Ingrid⁹,Ten Bosch Jutte Van Der Werff¹⁰,Kuijpers Taco W.¹¹¹,van den Berg Timo K.¹

Affiliation:

1. Department of Blood Cell Research,

2. Department of Immunopathology, and

3. Department of Plasma Proteins, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands;

4. Department of Pharmaceutics, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands;

5. Division of Cell Biology, Dutch Cancer Institute, Amsterdam, The Netherlands;

6. Microbiology and Immunology, College of Veterinary Medicine, Cornell University, Ithaca, NY;

7. Department of Medical Immunology, University Medical Center Utrecht, Utrecht, The Netherlands;

8. Department of Immunology/Hematology and BMT, University Medical Center Utrecht, Utrecht, The Netherlands;

9. University Medicine Göttingen, Department of Pediatrics, Göttingen, Germany;

10. Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels, Belgium; and

11. Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

Abstract

Key Points Neutrophils of patients with FHL-5 with Munc18-2/STXBP2 mutations have impaired granule fusion and bacterial killing.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/122/1/109/1368535/109.pdf

Reference16 articles.

1. Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules.;de Saint Basile;Nat Rev Immunol,2010

2. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.;zur Stadt;Am J Hum Genet,2009

3. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.;Côte;J Clin Invest,2009

4. Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5).;Sandrock;Blood,2010

5. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.;Meeths;Blood,2010

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