The percentage of positively diagnosed patients could increase, first, by reanalyzing WES data with custom bioinformatics pipelines or with the use of novel alternative methods like next generation mapping (NGM) to detect CNAs or SVs, including insertions, translocations and inversions, which are not detectable by commonly used techniques. Second, by investigating epigenetic patterns of DNA methylation and histone modification in a genome-wide approach. Third, by sequencing the gut microbiome we can study the phylogenic and functional diversity of the gut microbiota and its role in shaping the immune system. Finally, microbiome diversity and co-morbidity in patients with PID could be addressed with the analysis of intestinal immunoglobulins.
Project A2 obtains and registers its patients from the national registry for immunodeficient patients, the PIDnet registry, which has existed since 2009. The PIDnet Registry is part of the European immunodeficiency registry of ESID (European Society for Immunodeficiencies). Since the PIDnet Registry is responsible for the clinical data of patients, the PIDnet Registry is an integral part of RESIST.In addition, the project includes data and biomaterials from the cohort of the Clinical Research Group 250 (KFO 250) in its research.