From high throughput sequencing to diagnosis in immune mediated disorders ESID/ERN-RITA Workshop

  • 30 mai 2022 - 08:00
  • Paris, France
ERN Workshops (23)

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 organize this workshop where new technological developments as well as functional tests and strategies that proof DNA variants are causal will be discussed. In addition, patients’ perspective will be addressed. Together with experts, participants are expected to discuss/present their own challenging cases.

To educate young researchers and clinician which technics and functional tests available and appropriate to solve challenging clinical cases.

Clinical and laboratory immunologists, internist-infectiologists, pediatricians, geneticists and pediatric and adult rheumatologists, employees of affiliated to an ERN-Full Member or affiliated Partner institution. The expected total number of workshop participants is 80, of which max 20 ERN participants will be selected for funding.

Presentations and discussions.

To register please fill the application form here. until 14 April 2022

The training workshop will be a hybrid workshop with the possibility to participate onsite and online. For 20 selected ERN participants the onsite workshop is free of charge. Travel (max Euro 250) and hotel expenses (max 2 nights) will be reimbursed for the selected ERN participants. Lunches and coffee breaks will be provided onsite for all participants.

Affiliated to an ERN-Full Member or Affiliated Partner institution.

The organizer together with one member of the WP17 Scientific Evaluation Committee will select the most appropriate workshop participants based on the case presented. We aim for participation of early career research clinicians from different European countries and cases from different clinical domains being addressed and various technologies used.
Priority will be given to authors of submitted posters/case studies.
Registration for the workshop is on a first-come, first-served basis.
All registered participants will be informed if they are selected to attend this training course latest May 2nd 2022.  

At the end of the training workshop a Certificate of Attendance will be sent to the participants who attended the entire workshop and completed the survey. 
Credits of Continuing Education in Medicine might be issued – to be informed as soon as possible, if there is such a possibility. 

Workshops will run in English. 

Imagine Institute, 24 Boulevard du Montparnasse, Paris, France

If you have specific questions, please write to the workshop organizer:

Questions related to organization of travelling hotel, dinner should be addressed to:
Jo Vencken

For general inquiries about the workshops in the ERN RD Support and Training Program please write to:


  • Start Date:30 mai 2022
  • Start Time:08:00
  • End Date:31 mai 2022
  • End Time:16:00
  • Location:Paris, France