SUPPORT TO BIOBANK AND THE EXOME PROJECT

  • Project: Cell and DNA collection of PID patients followed at the UPIIP of Vall d'Hebron University Hospital. Analysis through mass sequencing techniques in cases without established molecular diagnosis.
  • Target: Patients with PID, both pediatric and adults, and occasionally their direct relatives. Especially important in patients without established molecular diagnosis.
  • Objectives: Disposal of biological samples of PID patients to complement the clinical information introduced in the ESID database. to promote international collaborations for the study of this group of diseases or certain subgroups. Molecular diagnosis of the most complex forms to optimize treatment.
  • Activities: Creation of a collection in the HUVH biobanc of cells and DNA of patients with PID followed at the UPIIP of the Vall d'Hebron University Hospital. Study by NGS techniques in cases without established molecular diagnosis.