Article
NBEAL2 is required for neutrophil and NK cell function and pathogen defense.
The Journal of clinical investigation - 1 Sept 2017
Sowerby John M, Thomas David C, Clare Simon, Espéli Marion, Guerrero Jose A, Hoenderdos Kim, Harcourt Katherine, Marsden Morgan, Abdul-Karim Juneid, Clement Mathew, Antrobus Robin, Umrania Yagnesh, Barton Philippa R, Flint Shaun M, Juss Jatinder K, Condliffe Alison M, Lyons Paul A, Humphreys Ian R, Chilvers Edwin R, Ouwehand Willem H, Dougan Gordon, Smith Kenneth Gc
Abstract excerpt
Mutations in the human NBEAL2 gene cause gray platelet syndrome (GPS), a bleeding diathesis characterized by a lack of α granules in platelets. The functions of the NBEAL2 protein have not been explored outside platelet biology, but there are reports of increased frequency of infection and abnormal neutrophil morphology in patients with GPS. We therefore investigated the role of NBEAL2 in immunity by analyzing...
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