IL2Rα and IL2Rβ Deficiencies – Clinical Phenotype and HSCT Outcome, a joint ESID/EBMT IEWP study

The study is currently in progress. 

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:

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