Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Platelets - 1 Jan 2018

Fager Ferrari Marcus, Leinoe Eva, Rossing Maria, Norström Eva, Strandberg Karin, Steen Sejersen Tobias, Qvortrup Klaus, Zetterberg Eva

Abstract excerpt

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 platelet function. Therefore, we aimed to investigate platelet degranulation in patients heterozygous for variants...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood Platelets
Share to Comorbidity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemorrhage

Share to Lymphohistiocytosis, Hemophagocytic

Share to Munc18 Proteins

Share to Platelet Count

Share to Qa-SNARE Proteins

Share to Secretory Vesicles

Source

Identifiers

PMID: 28399723
DOI: 10.1080/09537104.2017.1293808

Genes

STX11
STXBP2
LTA
FHL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding.PMID 28399723Read ↗

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.Semantic proximity Read ↗

Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a multi-center experience from Mexico.Semantic proximity Read ↗

Digenic and multigenic heterozygous FHL genotypes are common but clinically silent in the general population.Semantic proximity Read ↗

Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System FunctioningSemantic proximity Read ↗

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.Semantic proximity Read ↗

UNC13D in Familial Hemophagocytic Lymphohistiocytosis and Beyond: Functional Mechanisms, Genetic Variants, Multisystem Disease Spectrum and Clinical Implications.Semantic proximity Read ↗

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.Semantic proximity Read ↗

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cellsSemantic proximity Read ↗

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.Semantic proximity Read ↗

Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review.Semantic proximity Read ↗

Whole exome sequencing for diagnosis of hereditary thrombocytopenia.Semantic proximity Read ↗

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.