The study is currently in progress.
Invitation for participation
Dear colleagues,
We are collecting clinical, immunological and transplant data on these two rare disorders with overlapping phenotype and pathophysiology.
We aim to describe the clinical phenotype including response to treatment and IDDA score, immunophenotype, and outcomes of stem cell transplantation in order to better understand the spectrum of disease activity and inform clinical management.
If you care for any patients with these disorders, please get in touch via email: c.tsilifis@nhs.net
Proposed by: Christo Tsilifis, Ina Schim van der Loeff, Lisa Ott de Bruin, Florian Goethe, Ommo Mauss, Mehtap Sirin, Mary Slatter, Sophie Hambleton, Michael Albert, Benedicte Neven
The objectives of this study include:
- Describe the clinical and immunological phenotype in patients with IL2RA and IL2RB deficiencies
- Describe the outcome of HSCT in these two disorders
- Explore the impact of CMV serostatus and CMV disease at HSCT on outcome
- Explore the impact of donor chimerism on immunophenotype and disease activity post-HSCT
