The study has been approved by ESID.
Proposed by: Thibaut César, Julia Körholz, Serena Palmeri, Anna Wolfers
The team aims to provide a longitudinal data collection/registry for SOCS1 deficient patients for better understanding of the natural history, rare disease manifestations (e.g. mycobacterial disease), distribution of
variants, clinical penetrance of the variants among families, treatment efficacy (JAKi, other immunosuppressors, as well outcomes from HSCT and long term prognosis (e.g. lymphomagenesis). Provision of data for the study will be available through a CRF on the ESID Registry soon.
For further information, please contact Julia Körholz at Julia.Koerholz@ukdd.de.
