Several RITA Members and the University Medical Center from Amsterdam are teaming up in the framework of an ESID Research proposal. The objective of this study is to broaden their understanding of IKBKB GOF disease by:
- Investigating the disease phenotypes in IKBKB GOF disease
- Investigating specific treatments and treatment responses in IKBKB GOF disease
- Creating a platform for further functional testing of (heterozygous/monoallelic) VUS in IKBKB
For this, Catharina Schuetz (Dresden University Hospital), Leif Hanitsch (Charité Universitätsmedizin Berlin) together with Hanna Ijspeert (Erasmus Medical Center Rotterdam) and Taco Kuijpers (University Medical Center Amsterdam) are collecting clinical and immunological data on IKBKB GOF patients. If you follow such patients and are interested in contributing to the study, please contact them: catharina.schuetz@ukdd.de or t.w.kuijpers@amsterdamumc.nl
