#update #summary #update #summary

Pazmandi Julia


Dear All,


We would like to thank you again for your continuous support for our initiative. Please find a general update and summary on the activities of our effort below.

Spreading the word 

In order to increase visibility, two abstract have been submitted to the 2019 ESID meeting: one by the groups of “Serology / Antibody Deficiencies ” lead by Esther de Vries, and one general one on the behalf of the whole consortium. We would like to thank you again for spreading the word among your circles – we have welcomed 7 new members during the past months!


The next workshop

We are delighted to share that we are working towards organizing  a further 1,5 day meeting in Vienna in Autumn (September or October) of this year. The date and program will be announced in the next three weeks. We are hoping to see many of you there!


Automated HPO annotation for diseases

With the help of your efforts, we now have a(n almost complete) collection of publications detailing phenotypes of rare immune mediated disorders. In the last months, our main focus in Vienna was to start the semi-automated annotation process, which would allow us to extract HPO terms from these publications and annotate diseases. After a long time of trial and error, Matthias and me are currently testing a method which looks promising. We are planning to send out the first results of this annotation in June. Once the annotation process works optimally, we will be able to send the full list of annotations to the functional working groups for inspection and double-checking.


Thank you very much again for your support. Until the first round of annotations gets sent out, we would like to ask the groups to help us by:

·       Spreading word by talking to collogues, mentioning the initiative or by submitting abstracts and talking at conferences.

·       Finishing collection publications so that the all- disease-wide annotation process can progress

·       Review disease ontology structure regarding all remaining diseases


Thank you once more for your participation and support so far. Let’s continue working towards an accurate and comprehensive HPO repertoire for immune mediated disorders!



Julia and Matthias