Published in Blood on March 26, 2012
Hemophagocytic lymphohistiocytosis: review of etiologies and management. J Blood Med (2014) 1.60
Munc18b/STXBP2 is required for platelet secretion. Blood (2012) 1.30
Human NK cell lytic granules and regulation of their exocytosis. Front Immunol (2012) 1.10
The biogenesis of lysosomes and lysosome-related organelles. Cold Spring Harb Perspect Biol (2014) 1.03
Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning. Front Immunol (2014) 1.00
Treosulfan-based conditioning regimen for children and adolescents with hemophagocytic lymphohistiocytosis. Haematologica (2013) 0.97
Perforinopathy: a spectrum of human immune disease caused by defective perforin delivery or function. Front Immunol (2013) 0.95
Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. Blood (2015) 0.91
Consensus recommendations for the diagnosis and management of hemophagocytic lymphohistiocytosis associated with malignancies. Haematologica (2015) 0.90
Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency. Front Immunol (2016) 0.87
Development of classical Hodgkin's lymphoma in an adult with biallelic STXBP2 mutations. Haematologica (2012) 0.81
Munc18-2 is required for Syntaxin 11 Localization on the Plasma Membrane in Cytotoxic T-Lymphocytes. Traffic (2015) 0.78
Importance of hyperbilirubinemia in differentiation of primary and secondary hemophagocytic lymphohistiocytosis in pediatric cases. Mediterr J Hematol Infect Dis (2014) 0.77
Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1). J Clin Immunol (2015) 0.77
Hemophagocytic Lymphohistiocytosis: Single-Center Series of 12 Cases from Saudi Arabia. Clin Med Insights Pediatr (2016) 0.76
Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia. J Clin Immunol (2014) 0.76
The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis. Blood (2016) 0.75
Are all mutant SNARES equal? Blood (2012) 0.75
Hemophagocytic Lymphohistocytosis in the Chinese Han Population May Be Associated with an STXBP2 Gene Polymorphism. PLoS One (2016) 0.75
Hemophagocytic lymphohistiocytosis in a patient with Sjögren's syndrome: case report and review. Rheumatol Int (2016) 0.75
Weathering the storm: Improving therapeutic interventions for cytokine storm syndromes by targeting disease pathogenesis. Curr Treatm Opt Rheumatol (2017) 0.75
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer (2007) 16.96
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature (2012) 10.99
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell (2012) 6.71
A treatment protocol for infants younger than 1 year with acute lymphoblastic leukaemia (Interfant-99): an observational study and a multicentre randomised trial. Lancet (2007) 3.94
Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood (2002) 3.54
MHC class I peptides as chemosensory signals in the vomeronasal organ. Science (2004) 3.46
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology (2012) 3.28
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol (2009) 3.13
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med (2007) 2.85
Myeloablative megatherapy with autologous stem-cell rescue versus oral maintenance chemotherapy as consolidation treatment in patients with high-risk neuroblastoma: a randomised controlled trial. Lancet Oncol (2005) 2.75
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet (2005) 2.70
Diagnosis and management of acute myeloid leukemia in children and adolescents: recommendations from an international expert panel. Blood (2012) 2.39
Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood (2011) 2.35
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet (2009) 2.29
Lambda interferon renders epithelial cells of the respiratory and gastrointestinal tracts resistant to viral infections. J Virol (2010) 2.28
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) (2010) 2.26
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J Allergy Clin Immunol (2009) 2.09
Familial and acquired hemophagocytic lymphohistiocytosis. Hematology Am Soc Hematol Educ Program (2005) 2.04
Defibrotide for prophylaxis of hepatic veno-occlusive disease in paediatric haemopoietic stem-cell transplantation: an open-label, phase 3, randomised controlled trial. Lancet (2012) 2.02
Osteonecrosis: a treatment related toxicity in childhood acute lymphoblastic leukemia (ALL)--experiences from trial ALL-BFM 95. Pediatr Blood Cancer (2005) 2.02
Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity. Sci Transl Med (2014) 2.00
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood (2012) 1.92
Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma. Acta Neuropathol (2011) 1.90
Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat (2006) 1.88
The phenotype of human STK4 deficiency. Blood (2012) 1.84
TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma. J Clin Oncol (2010) 1.83
Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis. Haematologica (2005) 1.83
A proposal for an international retinoblastoma staging system. Pediatr Blood Cancer (2006) 1.76
Niche of harmful alga Aureococcus anophagefferens revealed through ecogenomics. Proc Natl Acad Sci U S A (2011) 1.76
Most harmful algal bloom species are vitamin B1 and B12 auxotrophs. Proc Natl Acad Sci U S A (2010) 1.75
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood (2013) 1.68
Infection of T lymphocytes in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children of non-Asian origin. Pediatr Blood Cancer (2009) 1.68
Detectable minimal residual disease before allogeneic hematopoietic stem cell transplantation predicts extremely poor prognosis in children with acute lymphoblastic leukemia. Pediatr Blood Cancer (2007) 1.64
Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis. Br J Haematol (2005) 1.64
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest (2008) 1.60
Langerhans cell histiocytosis (LCH): guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years. Pediatr Blood Cancer (2012) 1.60
Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood (2008) 1.56
Breast cancer in young women after treatment for Hodgkin's disease during childhood or adolescence--an observational study with up to 33-year follow-up. Dtsch Arztebl Int (2014) 1.56
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood (2010) 1.55
Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis. Arthritis Res Ther (2012) 1.55
Topical topic: accidental cisplatin overdose in a child: reversal of acute renal failure with sodium thiosulfate. Med Pediatr Oncol (2002) 1.48
Hemophagocytic lymphohistiocytosis: pathogenesis and treatment. Hematology Am Soc Hematol Educ Program (2013) 1.46
Standardized detection of Simian virus 40 by real-time quantitative polymerase chain reaction in pediatric malignancies. Haematologica (2005) 1.42
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood (2006) 1.42
Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. J Pediatr (2005) 1.41
Increasing mixed chimerism is an important prognostic factor for unfavorable outcome in children with acute lymphoblastic leukemia after allogeneic stem-cell transplantation: possible role for pre-emptive immunotherapy? J Clin Oncol (2004) 1.39
Virus clearance and immunopathology by CD8(+) T cells during infection with respiratory syncytial virus are mediated by IFN-gamma. Eur J Immunol (2002) 1.38
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. Clin Immunol (2011) 1.38
Deficiency of innate and acquired immunity caused by an IKBKB mutation. N Engl J Med (2013) 1.37
Diagnostic evaluation of patients with suspected haemophagocytic lymphohistiocytosis. Br J Haematol (2012) 1.37
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol (2010) 1.36
ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis. Proc Natl Acad Sci U S A (2011) 1.35
Positive serum crossmatch as predictor for graft failure in HLA-mismatched allogeneic blood stem cell transplantation. Transplantation (2002) 1.34
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency. J Immunol (2011) 1.32
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients. J Clin Immunol (2015) 1.32
Hemophagocytic lymphohistiocytosis and Kawasaki disease: combined manifestation and differential diagnosis. Pediatr Blood Cancer (2009) 1.31
A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol (2006) 1.31
Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis. Br J Haematol (2007) 1.27
Treatment options in childhood pontine gliomas. J Neurooncol (2006) 1.26
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25
Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease. Blood (2012) 1.25
Numerical modelling of label-structured cell population growth using CFSE distribution data. Theor Biol Med Model (2007) 1.25
Residual disease monitoring in childhood acute myeloid leukemia by multiparameter flow cytometry: the MRD-AML-BFM Study Group. J Clin Oncol (2006) 1.25
Randomized trial comparing liposomal daunorubicin with idarubicin as induction for pediatric acute myeloid leukemia: results from Study AML-BFM 2004. Blood (2013) 1.23
Clinical features, treatment, and outcome of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a multinational, multicenter study of 362 patients. Arthritis Rheumatol (2014) 1.22
Functional impairment of cytotoxic T cells in the lung airways following respiratory virus infections. Eur J Immunol (2006) 1.20
Prediction of outcome by early bone marrow response in childhood acute lymphoblastic leukemia treated in the ALL-BFM 95 trial: differential effects in precursor B-cell and T-cell leukemia. Haematologica (2012) 1.17
A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome. Pediatr Blood Cancer (2011) 1.16
Preemptive immunotherapy in childhood acute myeloid leukemia for patients showing evidence of mixed chimerism after allogeneic stem cell transplantation. Blood (2011) 1.16
DNA methylation of tumor suppressor genes in clinical remission predicts the relapse risk in acute myeloid leukemia. Cancer Res (2007) 1.15
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematologica (2010) 1.15