Associated Papers
Genetics of Primary Hemophagocytic Lymphohistiocytosis.
Karageorgos S et al.
Advances in Experimental Medicine and Biology, 2024
The opposing effects of two gene defects in STX11 and SLP76 on the disease in a patient with an inborn error of immunity.
Mansour R et al.
The Journal of Allergy and Clinical Immunology, 2023
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K et al.
Frontiers in Immunology, 2021
34992599 (PubMed )
Supplement: Table_3.xlsx › Blad1
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
Familial hemophagocytic lymphohistiocytosis in a girl with a novel homozygous mutation of STX11: A case report.
Guo X et al.
Medicine, 2019
A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.
Sultanova AK et al.
Annals of Laboratory Medicine, 2016
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ et al.
The Journal of Allergy and Clinical Immunology, 2014
Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.
Rudd E et al.
Journal of Medical Genetics, 2006
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