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Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus
TREX1 acts in concert with the SET complex in granzyme A–mediated apoptosis, and mutations in TREX1 cause Aicardi-Goutières syndrome and familial chilblain lupus. Here, we report monoallelicExpand
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Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies and complex genetic inheritance. In a genome-wide scan using 85,042 SNPs, weExpand
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The EUROclass trial: defining subgroups in common variable immunodeficiency.
The heterogeneity of common variable immunodeficiency (CVID) calls for a classification addressing pathogenic mechanisms as well as clinical relevance. This European multicenter trial was initiatedExpand
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International recommendations for the assessment of autoantibodies to cellular antigens referred to as anti-nuclear antibodies
Anti-nuclear antibodies (ANA) are fundamental for the diagnosis of autoimmune diseases, and have been determined by indirect immunofluorescence assay (IIFA) for decades. As the demand for ANA testingExpand
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Autosomal-dominant immune dysregulation syndrome in humans with CTLA4 mutations
The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of immune responses, and its loss causes fatal autoimmunity in mice. We studied a large family in which fiveExpand
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Clinical picture and treatment of 2212 patients with common variable immunodeficiency.
BACKGROUND Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation. The main features include respiratoryExpand
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Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren’s syndrome
Sjögren's syndrome is a common autoimmune disease (affecting ∼0.7% of European Americans) that typically presents as keratoconjunctivitis sicca and xerostomia. Here we report results of a large-scaleExpand
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Replication of recently identified systemic lupus erythematosus genetic associations: a case–control study
IntroductionWe aimed to replicate association of newly identified systemic lupus erythematosus (SLE) loci.MethodsWe selected the most associated SNP in 10 SLE loci. These 10 SNPs were analysed inExpand
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STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk
Objectives: To confirm and define the genetic association of STAT4 and systemic lupus erythematosus (SLE), investigate the possibility of correlations with differential splicing and/or expressionExpand
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Cancer risk in systemic lupus: an updated international multi-centre cohort study.
OBJECTIVE To update estimates of cancer risk in SLE relative to the general population. METHODS A multisite international SLE cohort was linked with regional tumor registries. StandardizedExpand
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