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

Blood. 2013 Jul 4;122(1):109-11. doi: 10.1182/blood-2013-03-494039. Epub 2013 May 17.

Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is caused by genetic defects in cytotoxic granule components or their fusion machinery, leading to impaired natural killer cell and/or T lymphocyte degranulation and/or cytotoxicity. This may accumulate into a life-threatening condition known as macrophage activation syndrome. STXBP2, also known as MUNC18-2, has recently been identified as the disease-causing gene in FHL type 5 (FHL-5). A role for STXBP2 in neutrophils, and for neutrophils in FHL in general, has not been documented thus far. Here, we report that FHL-5 neutrophils have a profound defect in granule mobilization, resulting in inadequate bacterial killing, in particular, of gram-negative Escherichia coli, but not of Staphylococcus aureus, which rather depends on intact reduced NAD phosphate oxidase activity. This impairment of bacterial killing may contribute to the apparent susceptibility to gastrointestinal tract inflammation in patients with FHL-5.

MeSH terms

  • Cell Degranulation / genetics
  • Cell Degranulation / immunology
  • Cytoplasmic Granules / metabolism
  • Cytoplasmic Granules / microbiology
  • Escherichia coli / immunology
  • Escherichia coli Infections / genetics
  • Escherichia coli Infections / immunology
  • Female
  • Gastroenteritis / genetics
  • Gastroenteritis / immunology*
  • Genetic Predisposition to Disease
  • Humans
  • Killer Cells, Natural / immunology
  • Killer Cells, Natural / microbiology
  • Lymphohistiocytosis, Hemophagocytic / genetics
  • Lymphohistiocytosis, Hemophagocytic / immunology*
  • Lymphohistiocytosis, Hemophagocytic / microbiology
  • Male
  • Munc18 Proteins / genetics*
  • Munc18 Proteins / immunology*
  • Neutrophils / immunology*
  • Neutrophils / microbiology
  • Staphylococcal Infections / genetics
  • Staphylococcal Infections / immunology
  • Staphylococcus aureus / immunology

Substances

  • Munc18 Proteins
  • STXBP2 protein, human

Supplementary concepts

  • Hemophagocytic Lymphohistiocytosis, Familial, 5