Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).

Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr (2006) 3.30

Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. J Med Genet (2006) 1.20

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematologica (2010) 1.15

Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management. Clin Exp Immunol (2011) 1.12

Disruption of MyD88 signaling suppresses hemophagocytic lymphohistiocytosis in mice. Blood (2011) 1.08

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. Haematologica (2009) 1.07

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. J Med Genet (2011) 1.05

Hemophagocytic Syndrome and Critical Illness: New Insights into Diagnosis and Management. J Intensive Care Med (2014) 0.98

Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. PLoS One (2010) 0.85

Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease. J Clin Immunol (2012) 0.78

Perforin gene mutations in 77 Chinese patients with lymphomas. World J Emerg Med (2013) 0.77

Mutations of perforin and Munc13-4 do not mark HLH by NK defects. Pediatr Blood Cancer (2006) 0.75

Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. Int J Hematol (2017) 0.75

HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer (2007) 16.96

Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood (2002) 3.54

Novel prognostic subgroups in childhood 11q23/MLL-rearranged acute myeloid leukemia: results of an international retrospective study. Blood (2009) 2.57

Slug, a highly conserved zinc finger transcriptional repressor, protects hematopoietic progenitor cells from radiation-induced apoptosis in vivo. Cancer Cell (2002) 2.48

High frequency of Ikaros isoform 6 expression in acute myelomonocytic and monocytic leukemias: implications for up-regulation of the antiapoptotic protein Bcl-XL in leukemogenesis. Blood (2002) 2.47

Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood (2011) 2.35

Nfil3/E4bp4 is required for the development and maturation of NK cells in vivo. J Exp Med (2009) 2.26

Nationwide survey of hemophagocytic lymphohistiocytosis in Japan. Int J Hematol (2007) 1.90

CD25+CD4+ T cells in human cord blood: an immunoregulatory subset with naive phenotype and specific expression of forkhead box p3 (Foxp3) gene. Exp Hematol (2004) 1.84

Ikaros dominant negative isoform (Ik6) induces IL-3-independent survival of murine pro-B lymphocytes by activating JAK-STAT and up-regulating Bcl-xl levels. Leuk Lymphoma (2008) 1.72

Identification of a gene expression signature associated with pediatric AML prognosis. Blood (2003) 1.71

Proposed guidelines for diagnosing chronic active Epstein-Barr virus infection. Am J Hematol (2005) 1.65

Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis. Br J Haematol (2005) 1.64

High serum values of soluble CD154, IL-2 receptor, RANKL and osteoprotegerin in Langerhans cell histiocytosis. Pediatr Blood Cancer (2006) 1.56

Aurora kinase A-specific T-cell receptor gene transfer redirects T lymphocytes to display effective antileukemia reactivity. Blood (2011) 1.54

Neurotoxicity and physicochemical properties of Abeta mutant peptides from cerebral amyloid angiopathy: implication for the pathogenesis of cerebral amyloid angiopathy and Alzheimer's disease. J Biol Chem (2003) 1.53

Procalcitonin as a marker of respiratory disorder in neonates. Pediatr Int (2014) 1.44

Constitutional pericentric inversion of chromosome 9 and haemopoietic stem cell transplantation: delayed engraftment. Br J Haematol (2002) 1.40

Successful prolonged rituximab treatment for post-transplant lymphoproliferative disorder following living donor liver transplantation in a child. Pediatr Transplant (2007) 1.40

Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome. Blood (2003) 1.40

Pineal dysfunction (low melatonin production) as a cause of sudden death in a long-term survivor of Langerhans cell histiocytosis? Med Pediatr Oncol (2003) 1.39

Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. Blood (2005) 1.37

Prognostic factors for chronic active Epstein-Barr virus infection. J Infect Dis (2003) 1.36

Allogeneic hematopoietic stem cell transplantation for Epstein-Barr virus-associated T/natural killer-cell lymphoproliferative disease in Japan. Am J Hematol (2008) 1.30

Treatment of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) in young adults: a report from the HLH study center. Med Pediatr Oncol (2003) 1.28

Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis. Br J Haematol (2007) 1.27

FLT3 mutations in the activation loop of tyrosine kinase domain are frequently found in infant ALL with MLL rearrangements and pediatric ALL with hyperdiploidy. Blood (2003) 1.26

Risk-stratified therapy and the intensive use of cytarabine improves the outcome in childhood acute myeloid leukemia: the AML99 trial from the Japanese Childhood AML Cooperative Study Group. J Clin Oncol (2009) 1.26

Renal cell carcinoma in dialysis patients: a single center experience. Int J Urol (2006) 1.26

Prognostic significance of additional cytogenetic aberrations in 733 de novo pediatric 11q23/MLL-rearranged AML patients: results of an international study. Blood (2011) 1.25

Prospective multicenter trial comparing repeated immunosuppressive therapy with stem-cell transplantation from an alternative donor as second-line treatment for children with severe and very severe aplastic anemia. Blood (2007) 1.25

Frequent co-expression of HoxA9 and Meis1 genes in infant acute lymphoblastic leukaemia with MLL rearrangement. Br J Haematol (2002) 1.22

Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis. Haematologica (2007) 1.21

Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. Am J Hematol (2007) 1.20

Synthesis, aggregation, neurotoxicity, and secondary structure of various A beta 1-42 mutants of familial Alzheimer's disease at positions 21-23. Biochem Biophys Res Commun (2002) 1.20

Success with infliximab in treating refractory hemophagocytic lymphohistiocytosis. Am J Hematol (2006) 1.19

Infant acute lymphoblastic leukemia with MLL gene rearrangements: outcome following intensive chemotherapy and hematopoietic stem cell transplantation. Blood (2004) 1.18

Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest (2003) 1.17

High incidence of human herpesvirus 6 infection with a high viral load in cord blood stem cell transplant recipients. Blood (2002) 1.17

Two distinct gene expression signatures in pediatric acute lymphoblastic leukemia with MLL rearrangements. Cancer Res (2003) 1.16

Occurrence of haemophagocytic lymphohistiocytosis at less than 1 year of age: analysis of 96 patients. Eur J Pediatr (2005) 1.14

Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan. Br J Haematol (2003) 1.14

Hematopoietic stem cell transplantation for familial hemophagocytic lymphohistiocytosis and Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in Japan. Pediatr Blood Cancer (2010) 1.11

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. Blood (2012) 1.11

Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences. Crit Rev Oncol Hematol (2005) 1.09

Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. Haematologica (2010) 1.07

Essential roles of perforin in antigen-specific cytotoxicity mediated by human CD4+ T lymphocytes: analysis using the combination of hereditary perforin-deficient effector cells and Fas-deficient target cells. J Immunol (2003) 1.05

Aberrations of the hSNF5/INI1 gene are restricted to malignant rhabdoid tumors or atypical teratoid/rhabdoid tumors in pediatric solid tumors. Genes Chromosomes Cancer (2002) 1.05

Epstein-Barr virus-associated bronchial leiomyoma in a boy with cellular immunodeficiency. Pediatr Pulmonol (2006) 1.05

Longitudinal follow-up of patients with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. Haematologica (2004) 1.04

Improved outcome in the treatment of pediatric multifocal Langerhans cell histiocytosis: Results from the Japan Langerhans Cell Histiocytosis Study Group-96 protocol study. Cancer (2006) 1.04

Prospective study of a pirarubicin, intermediate-dose cytarabine, and etoposide regimen in children with Down syndrome and acute myeloid leukemia: the Japanese Childhood AML Cooperative Study Group. J Clin Oncol (2007) 1.03

Toll-like receptor signaling is impaired in dendritic cells from patients with X-linked agammaglobulinemia. Clin Immunol (2008) 1.02

Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan. Br J Haematol (2002) 1.01

Antithymocyte globulin and cyclosporine for treatment of 44 children with hepatitis associated aplastic anemia. Haematologica (2007) 1.00

Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol (2012) 1.00

Treatment choice of immunotherapy or further chemotherapy for Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer (2011) 0.98

Quantitative analysis of cell-free Epstein-Barr virus genome copy number in patients with EBV-associated hemophagocytic lymphohistiocytosis. Leuk Lymphoma (2002) 0.97

The association of a distinctive allele of NAD(P)H:quinone oxidoreductase with pediatric acute lymphoblastic leukemias with MLL fusion genes in Japan. Haematologica (2005) 0.96

Characteristics of hemophagocytic lymphohistiocytosis in neonates: a nationwide survey in Japan. J Pediatr (2009) 0.95

Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families. Hum Genet (2003) 0.95

Therapeutic outcome of multifocal Langerhans cell histiocytosis in adults treated with the Special C regimen formulated by the Japan LCH Study Group. Int J Hematol (2012) 0.95

Novel mouse xenograft models reveal a critical role of CD4+ T cells in the proliferation of EBV-infected T and NK cells. PLoS Pathog (2011) 0.94

CD4-CD8- T-cell polymyositis in a patient with chronic active Epstein-Barr virus infection. Am J Hematol (2002) 0.94