Article ID Journal Published Year Pages File Type
4172277 Paediatrics and Child Health 2013 6 Pages PDF
Abstract

Primary Immunodeficiencies (PID) although rare are serious; diagnosis is often delayed due to their non-specific presentation. Heightened clinical suspicion leads to earlier diagnosis and improved outcome. Historically fatal in early childhood recent advances in diagnosis and management mean much improved mortality and morbidity. Antimicrobial prophylaxis and Immunoglobulin substitution intravenously, or increasingly subcutaneously offer excellent improvement in quality of life. Haematopoietic Stem Cell Transplant is now the definitive curative treatment for a wide range of severe PIDs. The success of these treatments, allows more focus on improving longterm quality of life. Gene therapy has had early success but significant complications and remains an ongoing area of research with considerable potential.

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Health Sciences Medicine and Dentistry Perinatology, Pediatrics and Child Health
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