Published in Blood on April 01, 2010
Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood (2010) 2.10
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood (2014) 1.88
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. Blood (2010) 1.38
How I treat autoimmune lymphoproliferative syndrome. Blood (2011) 1.38
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. J Clin Invest (2010) 1.27
NF-κB directly regulates Fas transcription to modulate Fas-mediated apoptosis and tumor suppression. J Biol Chem (2012) 1.24
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Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. Haematologica (2013) 0.95
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults. Haematologica (2012) 0.89
Isolation of double negative αβ T cells from the kidney. J Vis Exp (2014) 0.88
Elevated double negative T cells in pediatric autoimmunity. J Clin Immunol (2014) 0.88
Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial. Blood (2015) 0.87
Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis. Pediatrics (2013) 0.86
The expanding spectrum of the autoimmune lymphoproliferative syndromes. Curr Opin Pediatr (2013) 0.82
Altered differentiation, diminished pathogenicity, and regulatory activity of myelin-specific T cells expressing an enhanced affinity TCR. J Immunol (2011) 0.82
Clues to immune tolerance: the monogenic autoimmune syndromes. Ann N Y Acad Sci (2010) 0.80
Genomic alterations in abnormal neutrophils isolated from adult patients with systemic lupus erythematosus. Arthritis Res Ther (2014) 0.79
A rapid ex vivo clinical diagnostic assay for fas receptor-induced T lymphocyte apoptosis. J Clin Immunol (2012) 0.79
Double-negative T cells are non-ALPS-specific markers of immune dysregulation found in patients with aplastic anemia. Blood (2010) 0.78
IL-10/Janus kinase/signal transducer and activator of transcription 3 signaling dysregulates Bim expression in autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol (2014) 0.76
Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation. Haematologica (2016) 0.75
Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. Haematologica (2015) 0.75
Somatic ALPS: a FAScinating condition. Blood (2010) 0.75
Gene defects in the soma: some get it and some don't! J Clin Invest (2010) 0.75
Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies. Front Immunol (2017) 0.75
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Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics (2006) 21.54
Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. Science (2000) 6.98
Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet (1999) 6.90
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ConSeq: the identification of functionally and structurally important residues in protein sequences. Bioinformatics (2004) 3.50
Multistep pathogenesis of autoimmune disease. Cell (2007) 3.36
Membrane-bound Fas ligand only is essential for Fas-induced apoptosis. Nature (2009) 2.54
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med (2004) 2.25
NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Proc Natl Acad Sci U S A (2007) 2.25
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The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood (2001) 2.15
A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest (1992) 2.13
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood (1997) 2.10
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet (1999) 1.74
The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. J Clin Invest (1999) 1.58
Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood (2001) 1.55
Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol (2010) 1.54
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn (2007) 1.50
Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay. Blood (2002) 1.43
Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression. Blood (2001) 1.42
Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol (1998) 1.41
Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. Blood (1999) 1.38
Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome. Am J Surg Pathol (2005) 1.25
Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome. Br J Haematol (2009) 1.20
Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer (2009) 1.09
Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6. Mol Cell Probes (2005) 0.99
HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia). Clin Immunol (2005) 0.91
Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis--CT and US features. Radiology (1999) 0.89
Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation. Bone Marrow Transplant (1998) 0.87
Autoimmune lymphoproliferative syndrome type III, an indefinite disorder. Leuk Lymphoma (2001) 0.87
Somatic mutations--not just for cancer anymore. N Engl J Med (2004) 0.86
The use of molecular profiling to predict survival after chemotherapy for diffuse large-B-cell lymphoma. N Engl J Med (2002) 24.07
Topographical and temporal diversity of the human skin microbiome. Science (2009) 15.96
Confirmation of the molecular classification of diffuse large B-cell lymphoma by immunohistochemistry using a tissue microarray. Blood (2003) 13.92
Prediction of survival in follicular lymphoma based on molecular features of tumor-infiltrating immune cells. N Engl J Med (2004) 12.20
WHO-EORTC classification for cutaneous lymphomas. Blood (2005) 12.14
STAT3 mutations in the hyper-IgE syndrome. N Engl J Med (2007) 8.99
Chronic active B-cell-receptor signalling in diffuse large B-cell lymphoma. Nature (2010) 8.78
Tumor-associated macrophages and survival in classic Hodgkin's lymphoma. N Engl J Med (2010) 8.74
Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature (2008) 8.17
Anti-interleukin-12 antibody for active Crohn's disease. N Engl J Med (2004) 7.93
The 2008 WHO classification of lymphoid neoplasms and beyond: evolving concepts and practical applications. Blood (2011) 7.43
Oncogenically active MYD88 mutations in human lymphoma. Nature (2010) 7.34
Oncogenic CARD11 mutations in human diffuse large B cell lymphoma. Science (2008) 6.52
The proliferation gene expression signature is a quantitative integrator of oncogenic events that predicts survival in mantle cell lymphoma. Cancer Cell (2003) 6.11
Molecular diagnosis of Burkitt's lymphoma. N Engl J Med (2006) 6.10
Molecular diagnosis of primary mediastinal B cell lymphoma identifies a clinically favorable subgroup of diffuse large B cell lymphoma related to Hodgkin lymphoma. J Exp Med (2003) 6.06
The lymph node microenvironment promotes B-cell receptor signaling, NF-kappaB activation, and tumor proliferation in chronic lymphocytic leukemia. Blood (2010) 5.95
Molecular subtypes of diffuse large B-cell lymphoma arise by distinct genetic pathways. Proc Natl Acad Sci U S A (2008) 5.90
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res (2004) 5.59
Dose-adjusted EPOCH-rituximab therapy in primary mediastinal B-cell lymphoma. N Engl J Med (2013) 4.96
Bethesda proposals for classification of nonlymphoid hematopoietic neoplasms in mice. Blood (2002) 4.88
Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med (2014) 4.70
Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med (2009) 4.52
Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature (2012) 4.33
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature (2002) 4.21
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood (2011) 4.21
Bethesda proposals for classification of lymphoid neoplasms in mice. Blood (2002) 4.07
A new immunostain algorithm classifies diffuse large B-cell lymphoma into molecular subtypes with high accuracy. Clin Cancer Res (2009) 3.87
Concurrent expression of MYC and BCL2 in diffuse large B-cell lymphoma treated with rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone. J Clin Oncol (2012) 3.59
Administration of rhIL-7 in humans increases in vivo TCR repertoire diversity by preferential expansion of naive T cell subsets. J Exp Med (2008) 3.48
Vaccination with patient-specific tumor-derived antigen in first remission improves disease-free survival in follicular lymphoma. J Clin Oncol (2011) 3.40
Both IL-12p70 and IL-23 are synthesized during active Crohn's disease and are down-regulated by treatment with anti-IL-12 p40 monoclonal antibody. Inflamm Bowel Dis (2006) 3.29
Damaged intestinal epithelial integrity linked to microbial translocation in pathogenic simian immunodeficiency virus infections. PLoS Pathog (2010) 3.28
Differential efficacy of bortezomib plus chemotherapy within molecular subtypes of diffuse large B-cell lymphoma. Blood (2009) 3.17
Phase II multi-institutional trial of the histone deacetylase inhibitor romidepsin as monotherapy for patients with cutaneous T-cell lymphoma. J Clin Oncol (2009) 3.13
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
Diffuse large B-cell lymphoma subgroups have distinct genetic profiles that influence tumor biology and improve gene-expression-based survival prediction. Blood (2005) 3.12
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol (2011) 3.05
Lymphopenia and interleukin-2 therapy alter homeostasis of CD4+CD25+ regulatory T cells. Nat Med (2005) 3.01
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood (2009) 3.00
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol (2007) 2.98
Hodgkin lymphoma and immunodeficiency in persons with HIV/AIDS. Blood (2006) 2.90
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. Nature (2011) 2.82
Risk factors for lymphoproliferative disorders after allogeneic hematopoietic cell transplantation. Blood (2009) 2.73
Distinct EBV and CMV reactivation patterns following antibody-based immunosuppressive regimens in patients with severe aplastic anemia. Blood (2006) 2.69
Phase 2 trial of romidepsin in patients with peripheral T-cell lymphoma. Blood (2011) 2.64
Extranodal histiocytic sarcoma: clinicopathologic analysis of 14 cases of a rare epithelioid malignancy. Am J Surg Pathol (2004) 2.58
Phase II study of dose-adjusted EPOCH and rituximab in untreated diffuse large B-cell lymphoma with analysis of germinal center and post-germinal center biomarkers. J Clin Oncol (2008) 2.51
Enhanced SIV replication and accelerated progression to AIDS in macaques primed to mount a CD4 T cell response to the SIV envelope protein. Proc Natl Acad Sci U S A (2004) 2.51
Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol (2005) 2.45
Regulation of endothelial cell branching morphogenesis by endogenous chemokine stromal-derived factor-1. Blood (2002) 2.43
Cooperative epigenetic modulation by cancer amplicon genes. Cancer Cell (2010) 2.43
Low-intensity therapy in adults with Burkitt's lymphoma. N Engl J Med (2013) 2.31
Diffuse large B-cell lymphomas with plasmablastic differentiation represent a heterogeneous group of disease entities. Am J Surg Pathol (2004) 2.30
Dose-adjusted EPOCH chemotherapy for untreated large B-cell lymphomas: a pharmacodynamic approach with high efficacy. Blood (2002) 2.28
Priming of protective T cell responses against virus-induced tumors in mice with human immune system components. J Exp Med (2009) 2.26
Enteropathy-associated T-cell lymphoma: clinical and histological findings from the international peripheral T-cell lymphoma project. Blood (2011) 2.25
NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Proc Natl Acad Sci U S A (2007) 2.25
A pilot study of CTLA-4 blockade after cancer vaccine failure in patients with advanced malignancy. Clin Cancer Res (2007) 2.24
EBV positive mucocutaneous ulcer--a study of 26 cases associated with various sources of immunosuppression. Am J Surg Pathol (2010) 2.22
BCL2 translocation defines a unique tumor subset within the germinal center B-cell-like diffuse large B-cell lymphoma. Am J Pathol (2004) 2.20
Cyclin D1-negative mantle cell lymphoma: a clinicopathologic study based on gene expression profiling. Blood (2005) 2.19
Clonally related follicular lymphomas and histiocytic/dendritic cell sarcomas: evidence for transdifferentiation of the follicular lymphoma clone. Blood (2008) 2.15
A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory. Immunity (2011) 2.15
Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood (2002) 2.11
Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood (2010) 2.10
The role of tumor histogenesis, FDG-PET, and short-course EPOCH with dose-dense rituximab (SC-EPOCH-RR) in HIV-associated diffuse large B-cell lymphoma. Blood (2010) 2.09
BCL2 expression is a prognostic marker for the activated B-cell-like type of diffuse large B-cell lymphoma. J Clin Oncol (2006) 2.02
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr (2004) 2.01
Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D. Science (2013) 2.00
Structural profiles of TP53 gene mutations predict clinical outcome in diffuse large B-cell lymphoma: an international collaborative study. Blood (2008) 2.00
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet (2005) 1.99
The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Nat Immunol (2008) 1.97
Aberrant immunoglobulin class switch recombination and switch translocations in activated B cell-like diffuse large B cell lymphoma. J Exp Med (2007) 1.94
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. Blood (2013) 1.93
Hyper-IgE syndromes. Immunol Rev (2005) 1.92
Activation of the STAT3 signaling pathway is associated with poor survival in diffuse large B-cell lymphoma treated with R-CHOP. J Clin Oncol (2013) 1.91