Published in Nat Genet on April 01, 2007
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Sequence analysis of TNFRSF13b, encoding TACI, in patients with systemic lupus erythematosus. J Clin Immunol (2007) 0.84
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Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency. J Allergy Clin Immunol (2011) 0.79
Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency. J Clin Immunol (2011) 0.78
Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B*44 or HLA*B8. BMC Med Genet (2009) 0.78
IgH sequences in common variable immune deficiency reveal altered B cell development and selection. Sci Transl Med (2015) 0.77
Comparisons of CVID and IgGSD: referring physicians, autoimmune conditions, pneumovax reactivity, immunoglobulin levels, blood lymphocyte subsets, and HLA-A and -B typing in 432 adult index patients. J Immunol Res (2014) 0.77
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TACI and BAFF-R mediate isotype switching in B cells. J Exp Med (2005) 3.31
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Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
High-Throughput GoMiner, an 'industrial-strength' integrative gene ontology tool for interpretation of multiple-microarray experiments, with application to studies of Common Variable Immune Deficiency (CVID). BMC Bioinformatics (2005) 14.02
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet (2008) 12.51
Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A (2003) 11.65
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med (2007) 9.80
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med (2008) 9.61
STAT3 mutations in the hyper-IgE syndrome. N Engl J Med (2007) 8.99
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Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med (2009) 7.53
Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J Clin Invest (2008) 7.05
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet (2006) 6.98
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet (2008) 6.42
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet (2009) 5.75
A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med (2009) 5.20
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet (2005) 5.00
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J Exp Med (2008) 4.76
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A (2007) 4.71
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci (2004) 4.69
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet (2004) 4.46
Helicobacter pylori SabA adhesin in persistent infection and chronic inflammation. Science (2002) 4.38
Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet (2008) 4.33
Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology. J Allergy Clin Immunol (2006) 3.86
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B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat Immunol (2011) 3.66
Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones. Blood (2010) 3.52
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RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron (2007) 3.30
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology (2012) 3.28
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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
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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet (2006) 3.03
ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells. J Immunol (2006) 2.99
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol (2007) 2.98
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet (2007) 2.98
Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema. N Engl J Med (2010) 2.98
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med (2006) 2.85
Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo. J Clin Invest (2007) 2.80
An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med (2006) 2.77
2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema. Allergy Asthma Clin Immunol (2010) 2.75
X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore) (2006) 2.66
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nat Immunol (2010) 2.55
Elevated serum levels of interferon-regulated chemokines are biomarkers for active human systemic lupus erythematosus. PLoS Med (2006) 2.53
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet (2011) 2.52
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Dissecting the genetic complexity of the association between human leukocyte antigens and rheumatoid arthritis. Am J Hum Genet (2002) 2.47
Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet (2007) 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
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Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A (2013) 2.30
Interferon-regulated chemokines as biomarkers of systemic lupus erythematosus disease activity: a validation study. Arthritis Rheum (2009) 2.20
Comprehensive genomic access to vector integration in clinical gene therapy. Nat Med (2009) 2.19
Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Br J Haematol (2009) 2.17
Rice-based oral antibody fragment prophylaxis and therapy against rotavirus infection. J Clin Invest (2013) 2.15
The emerging role of interferon in human systemic lupus erythematosus. Curr Opin Immunol (2004) 2.12
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature (2010) 2.10
Infant colitis--it's in the genes. Lancet (2010) 2.10
Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor alpha therapy. Arthritis Rheum (2010) 2.08
Soluble BAFF levels inversely correlate with peripheral B cell numbers and the expression of BAFF receptors. J Immunol (2011) 2.08
Granulomatous disease in common variable immunodeficiency. Clin Immunol (2009) 2.07
Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr (2004) 2.01
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet (2011) 1.98
Immunoglobulin D enhances immune surveillance by activating antimicrobial, proinflammatory and B cell-stimulating programs in basophils. Nat Immunol (2009) 1.97
Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. Mol Med (2008) 1.97
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Haemopoietic stem-cell transplantation with antibody-based minimal-intensity conditioning: a phase 1/2 study. Lancet (2009) 1.96
Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood (2011) 1.96
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci U S A (2009) 1.95
Bruton's tyrosine kinase is essential for human B cell tolerance. J Exp Med (2004) 1.94
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet (2012) 1.94
Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet (2002) 1.93
Adoptive immunotherapy with allodepleted donor T-cells improves immune reconstitution after haploidentical stem cell transplantation. Blood (2006) 1.93
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. PLoS Genet (2011) 1.92
Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells. Proc Natl Acad Sci U S A (2009) 1.91
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Genetic CD21 deficiency is associated with hypogammaglobulinemia. J Allergy Clin Immunol (2011) 1.86
Efficacy of intravenous immunoglobulin in the prevention of pneumonia in patients with common variable immunodeficiency. J Allergy Clin Immunol (2002) 1.85
Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells. J Exp Med (2005) 1.84
The phenotype of human STK4 deficiency. Blood (2012) 1.84