Diagnosis of primary immunodeficiency diseases in the developing world: the need for education and networking with...

Even with the evident improvement in knowledge about clinical and molecular aspects and the technology used to diagnose primary immunodeficiency diseases (PIDs), there is still a significant delay in recognition of these diseases in the developing world, specifically in Latin America. In this review, the goal is to outline the challenges that need to overcome for the diagnosis of PIDs and the optimization of resources available based on our experience.

We describe the advances achieved in the past decade in Latin America in terms of recognition of PIDs, as well as the need for improvement. We outline the need for continued medical education, the lack of resources for laboratory testing, and how genetic testing through next-generation sequencing (that is becoming a day-to-day tool) can be achieved in the developing world.

We aim to gather information about the limitations and challenges for the diagnosis of PIDs in a low-resource environment and the opportunities to benefit from the available advanced tools for diagnosis.