Associated Papers
FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.
Viñas-Giménez L et al.
Frontiers in Immunology, 2020
32076423 (PubMed )
Supplement: Table_1.XLSX › Supplementary_Table_1
STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.
Benavides N et al.
Frontiers in Immunology, 2020
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS et al.
Human Mutation, 2018
Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.
Vogel GF et al.
Jci Insight, 2017
Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
Stepensky P et al.
Pediatric Blood & Cancer, 2013
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).
Pagel J et al.
Blood, 2012
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
Cetica V et al.
Journal of Medical Genetics, 2010
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
zur Stadt U et al.
American Journal of Human Genetics, 2009
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