Primary immunodeficiencies (PIDs) represent a collection of over 400 genetically determined disorders characterised by impaired immune function. These defects arise from mutations in genes responsible for the intricate development and function of the immune system. These mutations can impact various aspects, including the production of antibodies, the activity of phagocytes, or the function of T and B lymphocytes. The disrupted immune system in PID patients renders them more susceptible to infections from bacteria, viruses, fungi, and parasites.
PIDs exhibit a wide range of clinical presentations, complicating diagnosis, with some manifesting in infancy as recurrent or severe infections, while others present with more subtle signs and may remain undiagnosed until adulthood. Diagnosis of PID relies on a combination of clinical history, physical examination, and specialised laboratory testing, including blood tests to assess immune system components, genetic testing to identify causative mutations and flow cytometry to analyse immune cell populations. Early and accurate diagnosis is crucial for guiding appropriate treatment strategies in PID patients.
Management and treatment of PIDs focus on two main goals: preventing infections and addressing existing ones. The specific treatment approach depends on the type and severity of the PID.
- Antibiotics are a mainstay in PID management, often used prophylactically to reduce the risk of infections. They may also be used aggressively to treat established infections.
- Antiviral medications can be helpful for specific viral infections that pose a significant risk to PID patients.
- Immuneglobulin (Ig) replacement therapy is a cornerstone treatment for many PIDs, particularly those with antibody deficiencies.
Recently, novel treatments such as hematopoietic stem cell transplantation have been explored for treating PIDs, although this approach can offer a potential cure, this procedure carries significant risks including immunosuppression-related infections and graft versus host disease. Enter gene therapy, aimed at correcting the underlying genetic mutation, and is a rapidly evolving field. Gene editing studies have been reported in increasing numbers of PIDs in the last 20 years, highlighted in Table 1.
In part two of our blog, we’ll delve deeper into the world of gene therapy for PIDs. We’ll explore ongoing clinical trials that are yielding promising results, offering a glimpse into a future where gene therapy may transform the treatment landscape for these challenging diseases. Stay tuned to discover how this innovative approach is rewriting the story for PID patients.
About Synexa and Scientific Strategies
Synexa Life Sciences is a global provider of biomarker and bioanalytical services, specialising in the development, validation and delivery of a wide range of complex and custom-designed assays. With a team of 150 across five global laboratory locations; Cape Town, London, Berlin, Turku (Finland) and Rockville (Maryland USA), we provide innovative solutions to support our customers in achieving their clinical milestones.
Synexa’s Scientific Strategies team specialises in navigating the complexities and mitigating the risks associated with advancing compounds into clinical development. Our expertise is centred on critical biomarker and bioanalytical considerations, ensuring a streamlined path toward clinical trials. By offering bespoke consulting support, we deliver clear, actionable insights that address your unique biomarker and bioanalytical challenges, becoming a true strategic partner in your development journey.
