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.
journal_name
Bloodjournal_title
Bloodauthors
Zhao XW,Gazendam RP,Drewniak A,van Houdt M,Tool AT,van Hamme JL,Kustiawan I,Meijer AB,Janssen H,Russell DG,van de Corput L,Tesselaar K,Boelens JJ,Kuhnle I,Van Der Werff Ten Bosch J,Kuijpers TW,van den Berg TKdoi
10.1182/blood-2013-03-494039subject
Has Abstractpub_date
2013-07-04 00:00:00pages
109-11issue
1eissn
0006-4971issn
1528-0020pii
blood-2013-03-494039journal_volume
122pub_type
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