Published in Br J Haematol on August 05, 2009
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) (2010) 2.26
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Role of innate immunity in neonatal infection. Am J Perinatol (2013) 1.16
TLR signaling and effector functions are intact in XLA neutrophils. Clin Immunol (2010) 0.89
Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients. J Allergy Clin Immunol (2010) 0.81
Neutropenia in primary immunodeficiency. Curr Opin Hematol (2013) 0.79
Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med (2008) 15.30
Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med (2006) 9.68
Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J Clin Invest (2008) 7.05
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med (2002) 6.25
Impaired B and T cell antigen receptor signaling in p110delta PI 3-kinase mutant mice. Science (2002) 6.01
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet (2004) 5.43
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med (2010) 4.76
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood (2011) 4.21
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
Critical role for the p110alpha phosphoinositide-3-OH kinase in growth and metabolic regulation. Nature (2006) 3.71
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science (2013) 3.33
IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med (2011) 3.29
Vector integration is nonrandom and clustered and influences the fate of lymphopoiesis in SCID-X1 gene therapy. J Clin Invest (2007) 3.28
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics (2012) 3.10
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood (2009) 3.00
The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med (2011) 2.96
Dysregulated humoral immunity to nontyphoidal Salmonella in HIV-infected African adults. Science (2010) 2.91
Adult-onset immunodeficiency in Thailand and Taiwan. N Engl J Med (2012) 2.87
Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo. J Clin Invest (2007) 2.80
Essential role of the NADPH oxidase subunit p47(phox) in endothelial cell superoxide production in response to phorbol ester and tumor necrosis factor-alpha. Circ Res (2002) 2.79
Hot spots of retroviral integration in human CD34+ hematopoietic cells. Blood (2007) 2.79
Essential role for the p110delta phosphoinositide 3-kinase in the allergic response. Nature (2004) 2.73
Effective gene therapy with nonintegrating lentiviral vectors. Nat Med (2006) 2.70
Insertional transformation of hematopoietic cells by self-inactivating lentiviral and gammaretroviral vectors. Mol Ther (2009) 2.56
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol (2003) 2.56
WASP: a key immunological multitasker. Nat Rev Immunol (2010) 2.38
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
The Wiskott-Aldrich syndrome. J Allergy Clin Immunol (2006) 2.29
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) (2010) 2.26
Comprehensive genomic access to vector integration in clinical gene therapy. Nat Med (2009) 2.19
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. J Exp Med (2003) 2.19
Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity. Clin Infect Dis (2003) 2.14
Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning. Mol Ther (2006) 2.08
Bacillus Calmette Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes. Eur J Immunol (2004) 1.83
IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans. Immunity (2008) 1.83
2013 IDSA clinical practice guideline for vaccination of the immunocompromised host. Clin Infect Dis (2014) 1.81
Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency. Sci Transl Med (2011) 1.81
Stable gene transfer to muscle using non-integrating lentiviral vectors. Mol Ther (2007) 1.81
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
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood (2006) 1.80
Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood (2012) 1.80
The cytoplasm of living cells behaves as a poroelastic material. Nat Mater (2013) 1.80
The leukocyte podosome. Eur J Cell Biol (2005) 1.72
Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans. J Infect Dis (2004) 1.71
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet (2001) 1.70
2013 IDSA clinical practice guideline for vaccination of the immunocompromised host. Clin Infect Dis (2013) 1.69
Codon optimization of human factor VIII cDNAs leads to high-level expression. Blood (2010) 1.68
Cytoskeletal remodeling mediated by WASp in dendritic cells is necessary for normal immune synapse formation and T-cell priming. Blood (2011) 1.67
Megakaryocytes assemble podosomes that degrade matrix and protrude through basement membrane. Blood (2013) 1.65
Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood (2011) 1.62
Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response. Blood (2004) 1.56
Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment. Blood (2006) 1.56
A ubiquitous chromatin opening element (UCOE) confers resistance to DNA methylation-mediated silencing of lentiviral vectors. Mol Ther (2010) 1.54
Diminished production of anti-inflammatory mediators during neutrophil apoptosis and macrophage phagocytosis in chronic granulomatous disease (CGD). J Leukoc Biol (2003) 1.53
Immune competence after alemtuzumab treatment of multiple sclerosis. Neurology (2013) 1.51
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood (2010) 1.51
Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype. Br J Haematol (2006) 1.49
Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia. J Exp Med (2007) 1.49
Clinical utility of ANA measured by ELISA compared with ANA measured by immunofluorescence. Rheumatology (Oxford) (2009) 1.47
Inhibition of calpain stabilises podosomes and impairs dendritic cell motility. J Cell Sci (2006) 1.47
An Artemis polymorphic variant reduces Artemis activity and confers cellular radiosensitivity. DNA Repair (Amst) (2010) 1.46
SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease. Blood (2012) 1.44
Self-inactivating gammaretroviral vectors for gene therapy of X-linked severe combined immunodeficiency. Mol Ther (2008) 1.44
WIP regulates the stability and localization of WASP to podosomes in migrating dendritic cells. Curr Biol (2006) 1.43
Update on the hyper immunoglobulin M syndromes. Br J Haematol (2010) 1.43
A congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes. Blood (2010) 1.43
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med (2014) 1.42
Oncogenesis following delivery of a nonprimate lentiviral gene therapy vector to fetal and neonatal mice. Mol Ther (2005) 1.38
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol (2010) 1.36
Wiskott-Aldrich syndrome protein deficiency in B cells results in impaired peripheral homeostasis. Blood (2008) 1.35
Impaired dendritic-cell homing in vivo in the absence of Wiskott-Aldrich syndrome protein. Blood (2004) 1.35
Gene therapy of chronic granulomatous disease: the engraftment dilemma. Mol Ther (2010) 1.34
Failure to clear persistent vaccine-derived neurovirulent poliovirus infection in an immunodeficient man. Lancet (2004) 1.33
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest (2010) 1.33
Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation. Immunobiology (2009) 1.32
Wiskott-Aldrich syndrome protein and the cytoskeletal dynamics of dendritic cells. J Pathol (2004) 1.31
Maturation of DC is associated with changes in motile characteristics and adherence. Cell Motil Cytoskeleton (2004) 1.31