Rare diseases- Primary immunodeficiencies (PID)
- Dyskeratosis congenita (DKC) with bone marrow failure and dysfunctional telomere maintenance
- AR-DKC due to nucleolar protein family A member 2 (NHP2) deficiency
European Reference Network for Immunodeficiency, Autoinflammatory, Autimmune and Pediatric Rheumatic disea