12 Result(s)
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Dominik Aschenbrenner
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Article
Open AccessAn isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn’s disease with defective antimicrobial activity
Despite major advances in linking single genetic variants to single causal genes, the significance of genetic variation on transcript-level regulation of expression, transcript-specific functions, and relevanc...
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Open AccessPathogenic Interleukin-10 Receptor Alpha Variants in Humans — Balancing Natural Selection and Clinical Implications
Balancing natural selection is a process by which genetic variants arise in populations that are beneficial to heterozygous carriers, but pathogenic when homozygous. We systematically investigated the prevalen...
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Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
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BCG Vaccine–Associated Complications in Patients with PTEN Hamartoma Tumor Syndrome
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Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
Spleen tyrosine kinase (SYK) is a critical immune signaling molecule and therapeutic target. We identified damaging monoallelic SYK variants in six patients with immune deficiency, multi-organ inflammatory diseas...
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Open AccessDiscovery of CD80 and CD86 as recent activation markers on regulatory T cells by protein-RNA single-cell analysis
Traditionally, the transcriptomic and proteomic characterisation of CD4+ T cells at the single-cell level has been performed by two largely exclusive types of technologies: single-cell RNA sequencing (scRNA-seq) ...
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Open AccessA variant in IL6ST with a selective IL-11 signaling defect in human and mouse
The GP130 cytokine receptor subunit encoded by IL6ST is the shared receptor for ten cytokines of the IL-6 family. We describe a homozygous non-synonymous variant in IL6ST (p.R281Q) in a patient with craniosynosto...
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Publisher Correction: An immunoregulatory and tissue-residency program modulated by c-MAF in human TH17 cells
In the version of this article initially published, in the legend to Fig. 1b, the description of the frequency of TH17-IL-10+ clones was incomplete for the first group; this should read as follows: “...13 experim...
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An immunoregulatory and tissue-residency program modulated by c-MAF in human TH17 cells
Different types of effector and memory T lymphocytes are induced and maintained in protective or pathological immune responses. Here we characterized two human CD4+ TH17 helper cell subsets that, in the recently ...
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Open AccessTranscriptional signature of human pro-inflammatory TH17 cells identifies reduced IL10 gene expression in multiple sclerosis
We have previously reported the molecular signature of murine pathogenic TH17 cells that induce experimental autoimmune encephalomyelitis (EAE) in animals. Here we show that human peripheral blood IFN-γ+IL-17+ (T
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Article
ERK phosphorylation and miR-181a expression modulate activation of human memory TH17 cells
T helper (TH) cell polarization during priming is modulated by a number of signals, but whether polarization to a given phenotype also influences recall responses of memory TH cells is relatively unknown. Here we...
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Article
Pathogen-induced human TH17 cells produce IFN-γ or IL-10 and are regulated by IL-1β
Infection with Candida albicans and Staphylococcus aureus gives rise to TH17 cells with different properties; microbe-induced T-cell differentiation is shown here to depend on the balance between polarizing cytok...
