Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge

Project Coordinator

Medical Center - University of Freiburg
Freiburg im Breisgau


Hanna Gregorek The Children's Memorial Health Institute Warsaw, Poland
Klaus Schwarz University Hospital Ulm, Institute of Transfusion Medicine Ulm, Germany
Polina Stepensky Hadassah-Hebrew University Hospital Jerusalem, Israel
Alessandro Aiuti San Raffaele Hospital Milan, Italy
Despina Moshous INSERM UMR1163, Genome Dynamics in the Immune System Paris, France
Capucine Picard Hopital Necker-Enfants Malades Paris, France

Non-SCID combined immunodeficiencies (CID) are rare immunodeficiencies defined by impaired T cell immunity leading to severe infections, autoimmunity and malignancies. Haematopoietic stem cell transplantation (HSCT) is curative, but due to lack of data on the genetic basis of CID, its natural history and prognostic biomarkers, the criteria for HSCT remain unclear. This limitation gains relevance with the implementation of newborn screening for SCID, which will also identify a proportion of CID patients prior to disease symptoms. EuroCID members have initiated in 2011 a prospective observational study on the natural history of patients with profound CID (P-CID;120 patients). EuroCID will extend the P-CID concept to CID patients identified by TREC-based newborn screening (nb-CID;60 patients) and to patients with Nijmegen Breakage Syndrome (NBS;100 patients), which is genetically well defined due to a characteristic founder mutation. In these 3 cohorts, EuroCID will: 1. help to establish a genetic diagnosis beyond standard of care using novel genetic tools, 2. provide advanced immunophenotyping to identify novel biomarkers for diagnosis and prognosis, 3. initiate a European programme for clinical and immunological follow-up of nb-CID patients, 4. set up an observational study for NBS. EuroCID will accelerate diagnosis of CID by implementing diagnostic algorithms for infants identified by screening and later in life. Definition of clinical parameters and biomarkers determining prognosis will lead to more balanced treatment decisions in this group of life-threatening diseases.

E-Rare 2012 - Created by Toussaint Biger