Symposium: immunity and infectionAdvances in primary immunodeficiencies

Primary Immunodeficiencies (PID) although rare are serious; diagnosis is often delayed due to their non-specific presentation. The concept of PID has changed in recent years to a broader clinical phenotype, including autoimmunity, malignancy, immune dysregulation and allergy. Improved genetic diagnostics has greatly improved both our understanding of PID and our approach to diagnosis, enabling more accurate delineation. Haematopoietic Stem Cell Transplantation (HSCT) is an increasingly successful curative treatment for a widening range of severe PIDs; survival following HSCT is now 90% due to better preparation, less toxic chemotherapy, improved donor matching, better manipulation of stem cells and improved management of complications. Quality of life for PIDs such as Chronic Granulomatous Disease (CGD) is markedly better after HSCT than with supportive care. This article outlines the advances made in this rapidly advancing field in the last decade and offers practical advice on investigation and management of suspected or confirmed PID for the general paediatrician.