Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding

Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding

Familial hemophagocytic lymphohistiocytosis (FHL) is caused by biallelic variants in genes regulating granule secretion in cytotoxic lymphocytes. In FHL3–5, the affected genes UNC13D, STX11 and STXBP2 have further been shown to regulate the secretion of platelet granules, giving rise to compromised...

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Bibliographic Details
Main Authors: Marcus Fager Ferrari, Eva Leinoe, Maria Rossing, Eva Norström, Karin Strandberg, Tobias Steen Sejersen, Klaus Qvortrup, Eva Zetterberg
Format: Article
Language:English
Published: Taylor & Francis Group 2018-01-01
Series:Platelets
Subjects:
bleeding
familial hemophagocytic lymphocytosis
platelet granules
unc13d
stx11
stxbp2
Online Access:http://dx.doi.org/10.1080/09537104.2017.1293808

Internet

http://dx.doi.org/10.1080/09537104.2017.1293808

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