Publications by authors named "S Lind Enoksson"
Several genetic and immunological risk factors for severe COVID-19 have been identified, with monogenic conditions relating to 13 genes of type I interferon (IFN) immunity proposed to explain 4.8% of critical cases. However, previous cohorts have been clinically heterogeneous and were not subjected to thorough genetic and immunological analyses.
View Article and Find Full Text PDFPurpose: The aim of this study was to characterize clinical effects and biomarkers in three patients with chronic mucocutaneous candidiasis (CMC) caused by gain-of-function (GOF) mutations in the STAT1 gene during treatment with Janus kinase (JAK) inhibitors.
Methods: Mass cytometry (CyTOF) was used to characterize mononuclear leukocyte populations and Olink assay to quantify 265 plasma proteins. Flow-cytometric Assay for Specific Cell-mediated Immune-response in Activated whole blood (FASCIA) was used to quantify the reactivity against Candida albicans.
Article Synopsis
- The study analyzes whole genome sequencing data from 4,437 individuals (3,219 patients and 1,218 relatives) at the Genomic Medicine Center Karolinska-Rare Diseases to advance genomics-based diagnostics in Stockholm's healthcare system.
- Results show that 40% of patients received a molecular diagnosis, with variation in detection rates among different disease groups and involving 754 different causative genes.
- The initiative also contributes to research by sharing data internationally, leading to the discovery of 17 new disease-causing genes and fostering collaboration among expert teams for complex cases.
Background: Recently, plateletpheresis donations using a widely used leukoreduction system (LRS) chamber have been associated with T-cell lymphopenia. However, clinical health consequences of plateletpheresis-associated lymphopenia are still unknown.
Study Design And Methods: A nationwide cohort study using the SCANDAT3-S database was conducted with all platelet- and plasmapheresis donors in Sweden between 1996 and 2017.