Associated Papers
The Safety and Efficacy of Ruxolitinib in an Infant With Familial Hemophagocytic Syndrome Type 3: A Bridging Therapy Toward Hematopoietic Cell Transplantation and Treatment of Post-Transplant Complications, Including Sinusoidal Obstruction Syndrome.
Takahashi K et al.
Pediatric Blood & Cancer, 2025
Whole-genome sequencing reveals genetic backgrounds in Japanese patients with hemophagocytic lymphohistiocytosis treated with the HLH-2004 protocol.
Yanagisawa R et al.
International Journal of Hematology, 2025
Clinical and genetic analysis of macrophage activation syndrome complicating juvenile idiopathic inflammatory myopathies.
Li G et al.
Pediatric Research, 2025
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H et al.
Journal of Clinical Immunology, 2024
Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan.
Ishimura M et al.
International Journal of Hematology, 2024
Genetics of Primary Hemophagocytic Lymphohistiocytosis.
Karageorgos S et al.
Advances in Experimental Medicine and Biology, 2024
Functional role of UNC13D in immune diseases and its therapeutic applications.
Duong VT et al.
Frontiers in Immunology, 2024
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Successful Treatment of Transplantation-associated Atypical Hemolytic Uremic Syndrome With Eculizumab.
Hasegawa D et al.
Journal of Pediatric Hematology/oncology, 2018
A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.
Hori M et al.
Journal of Clinical Immunology, 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
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
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.
Sieni E et al.
Frontiers in Immunology, 2014
Association of nonimmune hydrops fetalis with familial hemophagocytic lymphohistiocytosis in identical twin neonates with perforin His222Arg (c665A>G) mutation.
Balta G et al.
Journal of Pediatric Hematology/oncology, 2013
Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
Zhizhuo H et al.
Pediatric Blood & Cancer, 2012
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E et al.
Journal of Medical Genetics, 2011
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.
Santoro A et al.
Haematologica, 2008
Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes.
Yamamoto K et al.
Journal of Medical Genetics, 2004
Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reports.
Nakao T et al.
Pediatric Hematology and Oncology, 0