Guest editorial Primary immunodeficiency diseases

摘要

Therapeutic options and treatment* success for PIDs are becoming available in many countries across the globe, some with worse resources than South Africa. Haematopoietic stem cell transplant (HSCT) in experienced treatment centres is achieving high cure rates for the most severe forms of PID but this is limited by access to donors and is hence not affordable for many of our patients. A national plan for specialised facilities for PIDs is urgently required to provide a framework of comprehensive care including access to dedicated diagnostic and treatment facilities. This access is patchily distributed and lacks dedicated funding at present as many of the procedures are not high-volume but are labour-intensive and may require highly specialised skills, both for the laboratory and diagnostic approach, as well as clinical management. Diagnostic genetic tests, the future of diagnosis in a rapidly expanding number of these conditions, are virtually lacking in our country. Our unique ethnic heritage is likely to reveal novel mutations in the field of PID, also in the context of high exposure to infectious disease triggers. Genetic counselling and screening are a very important part of the management and prevention of PID, but funding of these services is not secure; hence we cannot provide counselling to many of our patients and tragic infant deaths are seen as a result of this lack.