Clinical, immunological and genetic unravelling of severe isolated central nervous system disorders in children.

Neuroimmune disorders in previously healthy children often have a

detrimental outcome. Unfortunately, an integrated view on the

pathophysiology and genetic causes, combining neurological and

immunological insight, is lacking. However increased knowledge of

the molecular pathogenesis could significantly improve the

management of these diseases. Several inborn errors of immunity

(IEI) underlie severe neuroimmune disorders in chidhood. The

principal objective of this research project is therefore to unravel and

describe the immunologic and the molecular characteristics

underlying severe immune-mediated disorders of the central nervous

system in previously healthy children. In particular, I aim to identify

novel monogenic variants in known or novel genes underlying IEI, in

children presenting with severe neuro-immune disorders. Such an

approach would allow an early recognition, development and

introduction of targeted therapies and genetic counseling for the

affected children and their families. Furthermore, this project can

provide further valuable insight into the complex neuro-immune

cross-talk.