Associated Papers
Successful reduced-intensity cord blood transplantation in infants with familial hemophagocytic lymphohistiocytosis type 2.
Yasue S et al.
International Journal of Hematology, 2026
Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan.
Ishimura M et al.
International Journal of Hematology, 2024
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.
Stadermann A et al.
International Journal of Molecular Sciences, 2024
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation.
Xin X et al.
The American Journal of the Medical Sciences, 2023
RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.
Shi Y et al.
Pharmacogenomics and Personalized Medicine, 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
Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
Gao L et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2016
Perforin gene mutation in familial haemophagocytic lymphohistiocytosis: the first reported case from Hong Kong.
Chiang GP et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2014
Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis.
Rosado FG et al.
American Journal of Clinical Pathology, 2013
Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.
Gholam C et al.
Clinical and Experimental Immunology, 2011
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
Nagai K et al.
Plos One, 2010
Perforin deficiency and susceptibility to cancer.
Brennan AJ et al.
Cell Death and Differentiation, 2010
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
Trizzino A et al.
Journal of Medical Genetics, 2008
[Genetic defects and pathogenesis of hemophagocytic syndrome].
Ishii E
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2006
Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).
Ueda I et al.
Pediatric Blood & Cancer, 2006
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Zur Stadt U et al.
Human Mutation, 2006
A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis.
Ueda I et al.
International Journal of Hematology, 2006
Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences.
Ishii E et al.
Critical Reviews in Oncology/hematology, 2005
Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.
Molleran Lee S et al.
Journal of Medical Genetics, 2004
Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.
Ueda I et al.
British Journal of Haematology, 2003