Publications by authors named "L Roels"

Article Synopsis
  • * In a study of three patients with uncharacterized AGS, researchers found mutations in RNU7-1 that hindered the processing of replication-dependent histone pre-mRNA, contributing to abnormal immune responses and potential organ damage.
  • * The findings suggest that targeted genetic testing for RNU7-1 mutations is essential in unexplained AGS cases, and analyzing cytokines in cerebrospinal fluid could help identify irregularities in interferon activity, indicating a worse clinical prognosis. *
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In rare instances, pediatric SARS-CoV-2 infection results in a novel immunodysregulation syndrome termed multisystem inflammatory syndrome in children (MIS-C). We compared MIS-C immunopathology with severe COVID-19 in adults. MIS-C does not result in pneumocyte damage but is associated with vascular endotheliitis and gastrointestinal epithelial injury.

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Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by dominant-negative (DN) STAT3 mutations. Patients suffer from cold staphylococcal lesions and mucocutaneous candidiasis, severe allergy, and skeletal abnormalities. We report 12 patients from 8 unrelated kindreds with AD-HIES due to DN IL6ST mutations.

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The mining of metals in low income countries is often associated with high exposure to dust that contributes to metal exposure. Here, dust ingestion estimates were made from fecal excretion of inert tracers with corrections for dietary contribution. The study took place in the cobalt mining area of Lubumbashi (DR Congo) and involved 120 nonoccupationally exposed participants in the dry season, with 51 of these being repeated in the rainy season.

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