Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Dilemmas in the diagnosis and pathogenesis of atypical late-onset familial haemophagocytic lymphohistiocytosis.
Minson A et al.
Clinical & Translational Immunology, 2021
Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis.
Lucchini G et al.
Blood, 2018
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.
Ono S et al.
International Journal of Hematology, 2018
Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding.
Fager Ferrari M et al.
Platelets, 2018
Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.
Lopez JA et al.
Frontiers in Immunology, 2018
Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.
Maffucci P et al.
Frontiers in Immunology, 2016
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B et al.
Genome Medicine, 2015
Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.
Spessott WA et al.
Blood, 2015
Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity.
Saltzman RW et al.
The Journal of Allergy and Clinical Immunology, 2012
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