Gergana Georgieva

The study is currently in progress. The aim is to carry out a multicentre research project to evaluate the level of immune reconstitution achieved by patients with ADA-SCID on ERT while awaiting a more definitive treatment with HSCT or GT. Because GT is now recommended over HSCT if there is no matched sibling donor, but it is associated with a significantly longer waiting time, precise knowledge about timing of immune reconstitution, and when to consider treatment failure and plan an „urgent“ HSCT is important in the management of patients with ADA-SCID.

The study is currently in progress. The objectives of this study include: 1) Investigation of disease phenotypes in JAK1GOF disease 2) Investigation of specific treatments and treatment responses in
JAK1GOF disease
3) Creation of a platform for further functional testing of VUS in JAK1.

The study is currently in progress. The main objectives of this study are to test the feasibility of using patient L1 and IDDA score datasets for
training purposes of AI prediction models and to develop simple AI-based monitoring recommendation
guidance.

The study is currently in progress.
If your centre has cared for patients with MAGT1 mutations we invite you to participate and please reach out to Prof. Dr Safa Baris or Dr. Ezgi Yalcin Gungore. The collection of data will be until end of July 2025.

The study is currently in progress. If you have patients diagnosed with Coronin 1A deficiency and are interested in contributing to this study please contact Dr. Despina Moshous at Despina.moshous@inserm.fr and Dr. Reem Elfeky at reem.elfeky@gosh.nhs.uk.

The study is currently in progress. The objective of this study is to investigate the clinical and biological manifestations, treatment, and outcome of patients with autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency due to NFKBIA pathogenic variants.

The study is currently in progress. 
The objectives of this study include:
1) Describe the clinical and immunological phenotype in patients with IL2RA and IL2RB deficiencies
2) Describe the outcome of HSCT in these two disorders
3) Explore the impact of CMV serostatus and CMV disease at HSCT on outcome
4) Explore the impact of donor chimerism on immunophenotype and disease activity post-HSCT