Published in Blood on March 15, 2002
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Rapid platelet turnover in WASP(-) mice correlates with increased ex vivo phagocytosis of opsonized WASP(-) platelets. Exp Hematol (2008) 1.06
Warts and all: human papillomavirus in primary immunodeficiencies. J Allergy Clin Immunol (2012) 1.06
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N-WASP is a putative tumour suppressor in breast cancer cells, in vitro and in vivo, and is associated with clinical outcome in patients with breast cancer. Clin Exp Metastasis (2007) 0.96
Antiplatelet antibodies in WASP(-) mice correlate with evidence of increased in vivo platelet consumption. Exp Hematol (2009) 0.96
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The DNA sequence of the human X chromosome. Nature (2005) 6.97
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Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity (2006) 4.75
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci (2004) 4.69
Transcellular diapedesis is initiated by invasive podosomes. Immunity (2007) 4.06
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol (2003) 3.81
Atomoxetine increases extracellular levels of norepinephrine and dopamine in prefrontal cortex of rat: a potential mechanism for efficacy in attention deficit/hyperactivity disorder. Neuropsychopharmacology (2002) 3.79
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Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol (2002) 2.77
Astrovirus encephalitis in boy with X-linked agammaglobulinemia. Emerg Infect Dis (2010) 2.69
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Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis (2008) 2.52
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol (2008) 2.50
Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor. J Immunol (2006) 2.44
Primary immune deficiencies with aberrant IgE production. J Allergy Clin Immunol (2008) 2.38
Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol (2007) 2.38
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol (2012) 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
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells. Nature (2012) 2.32
Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A (2013) 2.30
Clinical course of patients with WASP gene mutations. Blood (2003) 2.06
C4b-binding protein (C4BP) activates B cells through the CD40 receptor. Immunity (2003) 2.04
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet (2005) 1.99
Inborn errors of human JAKs and STATs. Immunity (2012) 1.90
Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet (2007) 1.87
Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency. J Pediatr (2003) 1.84
Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med (2014) 1.81
Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement. Nat Med (2002) 1.80
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood (2004) 1.78
WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells. J Exp Med (2007) 1.77
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron (2002) 1.76
Health-related quality of life and treatment satisfaction in North American patients with primary immunedeficiency diseases receiving subcutaneous IgG self-infusions at home. J Clin Immunol (2006) 1.71
Bone marrow transplantation for severe combined immune deficiency. JAMA (2006) 1.71
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nat Immunol (2012) 1.70
WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). Proc Natl Acad Sci U S A (2007) 1.70
How I treat ADA deficiency. Blood (2009) 1.70
CD4+FOXP3+ regulatory T cells confer long-term regulation of factor VIII-specific immune responses in plasmid-mediated gene therapy-treated hemophilia mice. Blood (2009) 1.68
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A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. J Clin Invest (2007) 1.67
Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies. J Allergy Clin Immunol (2010) 1.65
WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function. Blood (2008) 1.65
Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment. Clin Immunol (2002) 1.64
Omenn syndrome: inflammation in leaky severe combined immunodeficiency. J Allergy Clin Immunol (2008) 1.64
Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair. Proc Natl Acad Sci U S A (2010) 1.62
CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance. J Exp Med (2007) 1.61
Successful determination of lower inflection point and maximal compliance in a population of patients with acute respiratory distress syndrome. Crit Care Med (2002) 1.60
Wiskott-Aldrich syndrome. Curr Opin Hematol (2008) 1.59
Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Clin Immunol (2011) 1.57
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. Blood (2010) 1.57
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res (2003) 1.55
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54
Accumulation of peripheral autoreactive B cells in the absence of functional human regulatory T cells. Blood (2012) 1.53
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood (2010) 1.51
Functional analysis of human memory B-cell subpopulations: IgD+CD27+ B cells are crucial in secondary immune response by producing high affinity IgM. Clin Immunol (2003) 1.49
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. J Allergy Clin Immunol (2012) 1.48
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning. Nat Med (2011) 1.47
Hypomorphic Rag mutations can cause destructive midline granulomatous disease. Blood (2010) 1.47
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood (2004) 1.46
Effect of therapeutic integrin (CD11a) blockade with efalizumab on immune responses to model antigens in humans: results of a randomized, single blind study. J Invest Dermatol (2008) 1.46
Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans. Proc Natl Acad Sci U S A (2011) 1.44
Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency. J Allergy Clin Immunol (2007) 1.44
Defective Th1 cytokine gene transcription in CD4+ and CD8+ T cells from Wiskott-Aldrich syndrome patients. J Immunol (2006) 1.44
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency. N Engl J Med (2014) 1.42
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. Immunol Rev (2005) 1.42
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet (2008) 1.41
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood (2004) 1.40
Global study of primary immunodeficiency diseases (PI)--diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res (2011) 1.40
The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol (2013) 1.40
Effect of rituximab on human in vivo antibody immune responses. J Allergy Clin Immunol (2011) 1.39
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet (2004) 1.39
Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins. Hum Mol Genet (2006) 1.38
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A (2007) 1.37
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. J Exp Med (2010) 1.35
Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A (2007) 1.35
AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest (2005) 1.35
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med (2012) 1.33