European journal of clinical investigation
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Eur. J. Clin. Invest. · Jun 2024
Pulmonary thrombosis associated with COVID-19 pneumonia: Beyond classical pulmonary thromboembolism.
Classical pulmonary thromboembolism (TE) and local pulmonary thrombosis (PT) have been suggested as mechanisms of thrombosis in COVID-19. However, robust evidence is still lacking because this was mainly based on retrospective studies, in which patients were included when TE was suspected. ⋯ Thrombi in COVID-19 were found within lung opacities in a higher percentage than lung involvement, regardless of TLI and clot location, supporting the hypothesis of local PT rather than "classic TE".
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Eur. J. Clin. Invest. · Jun 2024
Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection.
Genetic diagnosis of inborn errors of immunity (IEI) is complex due to the large number of genes involved and their molecular features. Missense variants have been reported as the most common cause of IEI. However, the frequency of copy number variants (CNVs) may be underestimated since their detection requires specific quantitative techniques. At this point, the use of Next Generation Sequencing (NGS) is acquiring relevance. ⋯ Based on our results, we propose a strategy to guide the molecular diagnosis that can be followed by expert and non-expert centres in the field of IEI.