Some children are born with a genetic defect that impacts their immune system, making them more susceptible to frequent, recurrent infections. In some cases, this can endanger their life.
They suffer from what is known as a primary immunodeficiency, which due to its low occurrence rates, is categorised as a rare disease. At present, there have been more than 450 types of primary immunodeficiencies described, though there are still many more to be identified.
At the SJD Barcelona Children's Hospital, our research hopes to identify when children admitted to our centre have one of these immune defects. Reaching a confirmed diagnosis is absolutely vital so we can begin immune-boosting treatment and help fend off new infections in future, improving the patient's overall quality of life.
Another line of research followed by this group—who receives samples from patients in various hospitals throughout Spain and abroad—focuses on identifying immunological features that predispose patients to severe mycobacteria infections and other intracellular infections.