Published in Blood on November 06, 2012
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A critical role for cellular inhibitor of protein 2 (cIAP2) in colitis-associated colorectal cancer and intestinal homeostasis mediated by the inflammasome and survival pathways. Mucosal Immunol (2015) 0.78
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The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency. BMC Pediatr (2015) 0.75
How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease. Genet Med (2016) 0.75
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The impact of HLA genotyping on survival following unrelated donor haematopoietic stem cell transplantation. Br J Haematol (2010) 1.49
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A novel reduced-intensity stem cell transplant regimen for nonmalignant disorders. Bone Marrow Transplant (2005) 1.39
Small molecule XIAP inhibitors cooperate with TRAIL to induce apoptosis in childhood acute leukemia cells and overcome Bcl-2-mediated resistance. Blood (2008) 1.36
The use of reduced-intensity stem cell transplantation in haemophagocytic lymphohistiocytosis and Langerhans cell histiocytosis. Bone Marrow Transplant (2008) 1.32
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Unrelated donor hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis. Bone Marrow Transplant (2008) 1.22
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Hematopoietic stem cell transplantation for familial hemophagocytic lymphohistiocytosis and Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in Japan. Pediatr Blood Cancer (2010) 1.11
A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. Cytometry B Clin Cytom (2009) 1.03
Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol (2012) 1.00
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The outcome of hematopoietic stem cell transplantation in Korean children with hemophagocytic lymphohistiocytosis. Pediatr Transplant (2010) 0.90
Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP). Cell Immunol (2009) 0.88
Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis. Pediatr Allergy Immunol (2012) 0.78
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Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science (2009) 8.80
A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med (2003) 8.59
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature (2010) 6.95
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med (2002) 6.25
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell (2006) 5.33
How I treat hemophagocytic lymphohistiocytosis. Blood (2011) 5.08
Long-term outcome of EBV-specific T-cell infusions to prevent or treat EBV-related lymphoproliferative disease in transplant recipients. Blood (2009) 4.98
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell (2003) 4.94
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet (2002) 4.84
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med (2010) 3.98
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
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Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63
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Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science (2013) 3.33
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Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease. Blood (2010) 3.23
Stepwise development of MAIT cells in mouse and human. PLoS Biol (2009) 3.18
Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol (2013) 3.18
Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med (2007) 3.18
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Chronic granulomatous disease: the European experience. PLoS One (2009) 3.04
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STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med (2009) 2.72
Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. J Exp Med (2005) 2.66
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica (2005) 2.66
DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transfer. Nucleic Acids Res (2008) 2.64
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood (2011) 2.55
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Pediatric Crohn disease patients exhibit specific ileal transcriptome and microbiome signature. J Clin Invest (2014) 2.39
A timely arrival for genomic medicine. Genet Med (2011) 2.38
Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease. Blood (2007) 2.36
Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood (2011) 2.35
Malignant transformation initiated by Mll-AF9: gene dosage and critical target cells. Cancer Cell (2008) 2.35
Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol (2010) 2.35
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) (2010) 2.33
Anti-interleukin-5 (mepolizumab) therapy for hypereosinophilic syndromes. J Allergy Clin Immunol (2003) 2.31
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. Nat Immunol (2007) 2.28
Outcome of children requiring admission to an intensive care unit after bone marrow transplantation. Crit Care Med (2003) 2.28
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med (2004) 2.25
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Negative regulation of natural killer cell function by EAT-2, a SAP-related adaptor. Nat Immunol (2005) 2.23
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Reduced Numbers and Proapoptotic Features of Mucosal-associated Invariant T Cells as a Characteristic Finding in Patients with Inflammatory Bowel Disease. Inflamm Bowel Dis (2015) 2.13
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood (2003) 2.11
Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood (2010) 2.10
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J Allergy Clin Immunol (2009) 2.09
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest (2009) 2.08
Increased cyclosporine concentrations in the absence of cyclosporine administration. Clin Chem (2011) 2.08
Dynamics of gene-modified progenitor cells analyzed by tracking retroviral integration sites in a human SCID-X1 gene therapy trial. Blood (2010) 2.05
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med (2012) 2.05
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Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood (2009) 2.03
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Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D. Science (2013) 2.00
Efficacy and safety of rituximab in B-cell post-transplantation lymphoproliferative disorders: results of a prospective multicenter phase 2 study. Blood (2005) 1.99
Haemopoietic stem-cell transplantation with antibody-based minimal-intensity conditioning: a phase 1/2 study. Lancet (2009) 1.96
Bim mediates apoptosis of CD127(lo) effector T cells and limits T cell memory. Eur J Immunol (2006) 1.95
Hemophagocytic lymphohistiocytosis: updates and evolving concepts. Curr Opin Pediatr (2012) 1.95
Negative regulation of immunoreceptor signaling. Annu Rev Immunol (2001) 1.94
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest (2003) 1.93
Adoptive immunotherapy with allodepleted donor T-cells improves immune reconstitution after haploidentical stem cell transplantation. Blood (2006) 1.93
Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol (2010) 1.93
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood (2012) 1.92
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest (2003) 1.92
Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics (2003) 1.91
Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning. Blood (2013) 1.91
Impact of thymoglobulin prior to pediatric unrelated umbilical cord blood transplantation on immune reconstitution and clinical outcome. Blood (2013) 1.90
Secondary autoimmune diseases occurring after HSCT for an autoimmune disease: a retrospective study of the EBMT Autoimmune Disease Working Party. Blood (2011) 1.89
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MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors. J Clin Invest (2012) 1.83
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). Blood (2012) 1.82
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat (2002) 1.81
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Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction. Sci Transl Med (2011) 1.81
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