Publications by authors named "Helena Flipts"
Article Synopsis
- DOCK2 is a guanine-nucleotide-exchange factor that activates Rac proteins, crucial for cell functions like actin cytoskeleton reorganization in immune cells and reactive oxygen species production.
- Six patients with severe viral infections and combined immunodeficiency linked to non-functioning DOCK2 mutations have been identified since 2015, but neutrophil functions in these cases were previously unexplored.
- This study highlights a family with four siblings who have a specific mutation in DOCK2 leading to impaired immune cell functions, such as trouble with EBV-B cell migration and NK cell activity, alongside partial issues with cytoskeletal rearrangement and reactive oxygen species production in neutrophils.
Purpose: Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 Belgian probands with possible adRP underwent genetic testing to unravel the molecular basis and to assess the contribution of the genes underlying their condition.
Methods: Mutation detection methods evolved over the past ten years, including mutation specific methods (APEX chip analysis), linkage analysis, gene panel analysis (Sanger sequencing, targeted next-generation sequencing or whole exome sequencing), high-resolution copy number screening (customized microarray-based comparative genomic hybridization).