Associated Papers
A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis.
Brik Simon D et al.
Genes, 2025
Genetics in a Danish Common Variable Immunodeficiency Cohort.
Drabe CH et al.
Journal of Clinical Immunology, 2025
Isolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.
Zhang Z et al.
Journal of Inflammation Research, 2025
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Precise CRISPR-Cas9 gene repair in autologous memory T cells to treat familial hemophagocytic lymphohistiocytosis.
Li X et al.
Science Immunology, 2024
Genetic background of primary and familial HLH in Qatar: registry data and population study.
Elgaali E et al.
Frontiers in Pediatrics, 2024
Functional role of UNC13D in immune diseases and its therapeutic applications.
Duong VT et al.
Frontiers in Immunology, 2024
Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.
Staudacher O et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
Isolated central nervous system hemophagocytic lymphohistiocytosis caused by novel UNC13D mutation.
Henry M et al.
Pediatric Blood & Cancer, 2023
Primary Hemophagocytic Lymphohistiocytosis With Prolonged Primary Neurologic Presentation.
Gupta J et al.
Pediatrics, 2023
Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.
Bąbol-Pokora K et al.
Archivum Immunologiae Et Therapiae Experimentalis, 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
Hemophagocytic lymphohistiocytosis mimicking neonatal hemochromatosis.
Broglie L et al.
Pediatric Hematology and Oncology, 2019
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
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.
Cetica V et al.
The Journal of Allergy and Clinical Immunology, 2016
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B et al.
Genome Medicine, 2015
Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party.
Koh KN et al.
European Journal of Haematology, 2015
A rare cause of acute cerebellar ataxia: familial hemophagocytic lymphohistiocytosis.
Aksu Uzunhan T et al.
Pediatric Neurology, 2014
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
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
Meeths M et al.
Blood, 2011
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E et al.
Journal of Medical Genetics, 2011
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Rohr J et al.
Haematologica, 2010
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
Rudd E et al.
Journal of Medical Genetics, 2008