Publications by authors named "R Cuperus"
In the Netherlands, 600 patients are diagnosed with tuberculosis annually, especially refugees and migrants. After arrival in the Netherlands, they are screened with a chest X-ray. However, 45% of patients present with extrapulmonary tuberculosis.
View Article and Find Full Text PDFLoss-of-function variants in () cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a histone demethylase that is important for epigenetic regulation of gene expression. PHF8-XLID is an under-characterized disorder with only five previous reports describing different predicted loss-of-function variants in eight individuals.
View Article and Find Full Text PDFDown syndrome (DS) is associated with increased susceptibility to infections, auto-immunity, immunodeficiency and haematological malignancies. The exact underlying immunological pathophysiology is still unclear. The immunophenotype and clinical characteristics of DS resemble those of Activated PI3K Delta Syndrome (APDS), in which the PI3K/AKT/mTOR pathway is overactivated.
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- Truncating variants in exons 33 and 34 of the SRCAP gene are linked to Floating-Harbor syndrome, a neurodevelopmental disorder with symptoms like short stature and speech delay.
- In a study of 33 individuals with different clinical features than FLHS, most had de novo SRCAP variants, revealing shared issues like developmental delays and behavioral problems.
- The research found distinct DNA methylation signatures for these individuals compared to FLHS, leading to the classification of their condition as "non-FLHS SRCAP-related NDD," emphasizing the relationship between variant location, DNA methylation, and clinical symptoms.