Advances in PID Research
The science of primary immunodeficiency is moving rapidly. The number of identified genetic defects causing PID has grown from a handful of conditions to over 550 – and this list continues to expand as genetic sequencing technology improves.
Key areas of current research include:
- Gene therapy — offering the potential for curative treatment in some forms of PID
- Novel targeted therapies that address the specific genetic cause of individual PIDs
- Improved newborn screening programmes to identify severe PIDs at birth
- Better understanding of the overlap between PID, autoimmunity, and inflammatory conditions
- Patient registries and data collection to improve understanding of PID at population level
Newborn Screening
For the most severe forms of PID – in particular Severe Combined Immunodeficiency (SCID) – newborn screening programmes make it possible to identify affected infants before they become dangerously ill. Early identification at birth allows treatment to begin before potentially fatal infections occur.
Ireland expanded its National Newborn Bloodspot Screening Programme to include SCID screening in April 2026 – a significant milestone for the Irish PID community. IPIA welcomed this development as a vital step toward earlier diagnosis and treatment for the most severe forms of PID.
Clinical Trials
Clinical trials are research studies that test new treatments, diagnostics, or approaches to care. Participating in a trial can give patients access to cutting-edge treatments and helps advance the science of PID for everyone.
If you are interested in clinical trials relevant to your condition, speak to your immunologist. You can also search for trials on:
Associated Conditions
Many people with PIDs also experience associated conditions arising from immune dysregulation. These can include:
- Autoimmune conditions (e.g., autoimmune cytopenias, inflammatory bowel disease, arthritis)
- Severe or recurrent allergies
- Chronic lung disease (bronchiectasis) as a result of repeated infections
- Increased risk of certain malignancies
- Inflammatory conditions
Understanding these associated conditions is important for comprehensive care planning.
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