Author pages are created from data sourced from our academic publisher partnerships and public sources.
- Publications
- Influence
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus
- M. A. Lee-Kirsch, Maolian Gong, +21 authors N. Hübner
- Biology, Medicine
- Nature Genetics
- 1 September 2007
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 monoallelic… Expand
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
- S. Kozyrev, A. Abelson, +21 authors M. Alarcón-Riquelme
- Biology, Medicine
- Nature Genetics
- 1 February 2008
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, we… Expand
The EUROclass trial: defining subgroups in common variable immunodeficiency.
- C. Wehr, T. Kivioja, +32 authors K. Warnatz
- Medicine
- Blood
- 2008
The heterogeneity of common variable immunodeficiency (CVID) calls for a classification addressing pathogenic mechanisms as well as clinical relevance. This European multicenter trial was initiated… Expand
International recommendations for the assessment of autoantibodies to cellular antigens referred to as anti-nuclear antibodies
- N. Agmon-Levin, J. Damoiseaux, +31 authors Y. Shoenfeld
- Medicine
- Annals of the rheumatic diseases
- 14 October 2013
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 testing… Expand
Autosomal-dominant immune dysregulation syndrome in humans with CTLA4 mutations
- D. Schubert, C. Bode, +37 authors B. Grimbacher
- Medicine
- Nature Medicine
- 20 October 2014
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 five… Expand
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.
- B. Gathmann, N. Mahlaoui, +39 authors B. Grimbacher
- Medicine
- The Journal of allergy and clinical immunology
- 1 July 2014
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 respiratory… Expand
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren’s syndrome
- C. Lessard, H. Li, +57 authors K. Sivils
- Biology, Medicine
- Nature Genetics
- 6 October 2013
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-scale… Expand
Replication of recently identified systemic lupus erythematosus genetic associations: a case–control study
- M. Suarez-Gestal, M. Calaza, +17 authors A. González
- Medicine
- Arthritis research & therapy
- 14 May 2009
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 in… Expand
STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk
- A. Abelson, A. Delgado-Vega, +19 authors M. Alarcón-Riquelme
- Biology, Medicine
- Annals of the rheumatic diseases
- 19 November 2008
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 expression… Expand
Cancer risk in systemic lupus: an updated international multi-centre cohort study.
- S. Bernatsky, R. Ramsey-Goldman, +42 authors A. Clarke
- Medicine
- Journal of autoimmunity
- 1 May 2013
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. Standardized… Expand
...
1
2
3
4
5
...