EuroCID

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.