Inborn errors of immunity (IEI) manifest as increased susceptibility to severe and/or recurrent infectious diseases, autoimmune or auto-inflammatory conditions, atopic manifestations, and malignancies. More than 450 IEI have been discovered, especially within the past decade thanks to high throughput sequencing methods, exome sequencing (WES), and whole genome sequencing (WGS). However, the diagnostic yield for such disorders still remains low and varies between 20-70%. Moreover, the demonstration that the rare detected DNA variants are the cause of the IEI poses challenges. To address these challenges and educate young researchers and clinicians working in the field of immune mediated disorders and IEI, the Genetics Working Party (WP) of the European Society of Immune Deficiencies (ESID) together with the molecular testing working group (WG) of ERN RITA organized this workshop where new technological developments as well as functional tests and strategies that proof DNA variants are causal were discussed. In addition, patients’ perspective was also addressed. Together with experts, participants were expected to discuss/present their own challenging cases.
esid.org
ern-rita.org