Publications by authors named "M van Deuren"

Background: Chronic Q fever is a zoonosis caused by the bacterium which can manifest as infection of an abdominal aortic aneurysm (AAA). Antibiotic therapy often fails, resulting in severe morbidity and high mortality. Whereas previous studies have focused on inflammatory processes in blood, the aim of this study was to investigate local inflammation in aortic tissue.

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Article Synopsis
  • Inborn errors of immunity (IEI) are diverse disorders affecting the immune system, with over 450 related genes identified, making next-generation sequencing (NGS) a promising diagnostic tool.
  • A study involving 165 patients suspected of having IEI found that NGS resulted in a definitive diagnosis for 24.6% of pediatric patients and 9% of adults, with most diagnoses falling under immune dysregulation and antibody deficiencies.
  • The median time from consultation to diagnosis was similar for both groups, and 76% of patients with a genetic diagnosis experienced changes in their disease management based on the results.
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Bloom Syndrome (BS) is a genetic DNA repair disorder, caused by mutations in the BLM gene. The clinical phenotype includes growth retardation, immunodeficiency and a strong predisposition to different types of malignancies. Treatment of malignancies in BS patients with radiotherapy or chemotherapy is believed to be associated with increased toxicity, but clinical and laboratory data are lacking.

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Objectives: Complete deficiency of alternative pathway (AP) complement factors, explained by homozygous mutations, is a well-known risk factor for invasive bacterial infections; however, this is less obvious for heterozygous mutations. We describe two siblings with a heterozygous NM_001928.3(CFD):c.

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The clinical spectrum of COVID-19 varies and the differences in host response characterizing this variation have not been fully elucidated. COVID-19 disease severity correlates with an excessive proinflammatory immune response and profound lymphopenia. Inflammatory responses according to disease severity were explored by plasma cytokine measurements and proteomics analysis in 147 COVID-19 patients.

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