Gergana Georgieva

The GAIN2_ESID-level-2 dataset has been developed for the documentation of patients with both, immunodeficiency and immune dysregulation, i.e. autoimmuniy and/or autoinflammation.
Hence, the GAIN2_ESID-level-2 dataset shall facilitate the publication of patient cohorts with multi-organ autoimmunity and autoinflammation. This dataset is now available on the ESID-Castor database. 

We would like to invite you to participate in an ESID-supported study on monoallelic LIG4-dependent combined immunodeficiency. If your centre follows patients with monoallelic LIG4 variants and you are interested in participating, please contact: salome.stein@unibas.ch and cc: mike.recher@usb.ch. A case report form will be provided upon expression of interest.

The Human Phenotype Ontology (HPO) and GA4GH Phenopacket Schema provide a machine-readable framework for encoding clinical phenotypes based on semantic similarity scoring across individuals. This may perspectively allow for longitudinal modelling and outcome prediction using modern machine learning methods. This study will test the feasibility and analytical value using proof-of-principle cohorts (SOCS1 haploinsufficiency and APDS).

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. 

The objectives of this study are to present epidemiologically descriptive statistical summary of the use of
immune modifying drugs in IEI/PID in Europe, estimation of the
quantity and variety of used drugs and review which drugs in which IEI/PID, use linked to organ manifestations,
targeted/off-target (gene pathway), economical factors.