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Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Julian Thalhammer, Gerhard Kindle, Alexandra Nieters, Stephan Rusch, Mikko R. J. Seppänen, Alain Fischer, Bodo Grimbacher, David Edgar, Matthew Buckland, Nizar Mahlaoui, 2021, original scientific article

Abstract: Background. Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations. Objective. We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts. Methods. We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered. Results. Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years. Conclusions. An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.
Keywords: immunity, autoimmune diseases, inflammation, signs and symptoms, registries, inborn error of immunity, primary immunodeficiency, immune dysregulation
Published in DiRROS: 28.05.2021; Views: 516; Downloads: 86
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Decrease in cellular nanovesicles concentration in blood of athletes more than 15 hours after marathon
Zala Jan, Mitja Drab, Damjana Drobne, Apolonija Bedina Zavec, Mojca Benčina, Barbara Drašler, Matej Hočevar, Judita Lea Krek, Ljubiša Pađen, Manca Pajnič, Neža Repar, Boštjan Šimunič, Roman Štukelj, Veronika Kralj-Iglič, 2021, original scientific article

Abstract: Introduction: Cellular nanovesicles (CNVs), that are shed from cells, have been recognized as promising indicators of health status. We analyzed the effect of long-distance running on concentration of CNVs, along with some standard blood parameters, in 27 athletes two days before and > 15 hours after physical effort. Methods: CNVs were isolated by repetitive centrifugation and washing of samples, and assessed by flow cytometry. Cholinesterase (ChE) and glutathione S-transferase (GST) activity were measured spectrophotometrically. Interleukin 6 (IL-6) and tumor necrosis factor-% (TNF-%) concentrations were measured using enzyme-linked immunosorbent assay (ELISA). C-reactive protein (CRP) was measured with immunoturbidimetric determination and lipidogram parameters were measured by enzymatic colorimetric assay. Flow cytometry was used for blood cell count and mean platelet volume (MPV) measurement. Results: More than 15 hours after physical effort a decrease was found in CNVs% concentration in isolates from blood (46%; p< 0.05), in ChE activity in whole blood (47%; p< 0.001), in plasma (34%; p< 0.01), and in erythrocyte suspension (54%; p< 0.001), as well as in GST activity in erythrocyte suspension (16%; p< 0.01) and in IL-6 concentration in plasma (63%; p< 0.05). We found no change in GST activity in plasma and in TNF-% concentration in plasma. Correlations (> 0.8; p< 0.001) between CNVs% concentration and ChE activity, and GST activity, respectively, in erythrocyte suspension were found. Conclusion: We found that > 15 hours post-physical effort, CNVs% concentration was below the initial value, concomitant with other measured parameters: ChE and GST activity as well as IL-6 concentration, indicating a favorable effect of physical effort on health status. CNVs% concentration and ChE activity in isolates from peripheral blood proved to have potential as indicators of the response of the human body to inflammation after physical effort. Physical activity should be considered as an important factor in preparation of subjects for blood sampling in procedures focusing on CNV-containing diagnostic and therapeutic compounds.
Keywords: membrane vesiculation, physical effort, blood samples, inflammation process, cellular nanovesicles, marathon
Published in DiRROS: 25.01.2021; Views: 768; Downloads: 536
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