A5065841912- Cystic Fibrosis Research Advances
- Mitochondrial Function and Pathology
- Coenzyme Q10 studies and effects
- DNA Repair Mechanisms
- Neonatal Respiratory Health Research
- Antibiotic Resistance in Bacteria
- Bacterial biofilms and quorum sensing
- Respiratory viral infections research
- Cytomegalovirus and herpesvirus research
- Genetics and Neurodevelopmental Disorders
Ghent University Hospital
2018-2025
Ghent University
2025
Ataxia telangiectasia and Rad3-related (ATR) kinase its interacting protein ATRIP orchestrate the replication stress response. Homozygous splice variants in gene, resulting deficiency, were identified two patients of independent ancestry with microcephaly, primordial dwarfism, recurrent infections. The c.829+5G>T patient exhibited lymphopenia, poor vaccine responses, autoimmune features hemolytic anemia, neutropenia. Immunophenotyping revealed reduced CD16+/CD56dim NK cells absent...
ATR (Ataxia Telangiectasia and Rad3-related) kinase its interacting protein ATRIP orchestrate the replication stress response. Two patients of independent ancestry with microcephaly, primordial dwarfism, recurring infections were found to be homozygous for splice donor site variants exon 5, resulting in deficiency. The c.829+5G>T patient exhibited autoimmune hemolytic anemia, lymphopenia, poor vaccine response, intermittent neutropenia. Immunophenotyping revealed reduced CD16+ NK cells...