Associated Papers
Functional role of UNC13D in immune diseases and its therapeutic applications.
Duong VT et al.
Frontiers in Immunology, 2024
Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3.
Niizato D et al.
Frontiers in Immunology, 2022
Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.
Steen EA et al.
Frontiers in Immunology, 2021
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque V et al.
Blood Advances, 2020
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
Histopathologic Correlates of Familial Hemophagocytic Lymphohistiocytosis Isolated to the Central Nervous System.
Solomon IH et al.
Journal of Neuropathology and Experimental Neurology, 2018
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L et al.
Jama Pediatrics, 2017
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
Qian Y et al.
Pediatric Blood & Cancer, 2014
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E et al.
Journal of Medical Genetics, 2011
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