Getting a Diagnosis
Many PIDs can be identified through relatively simple and inexpensive blood tests, yet the condition remains significantly underdiagnosed globally. Around 60% of PIDs can be diagnosed using basic blood tests. Improved genetic testing is helping to identify more cases, including rarer forms but diagnostic delays are still common.
Patients often describe a long road of repeated infections, inconclusive tests, and misdiagnoses before PID is considered. This delay is not unusual, it is one of the most common experiences shared by the PID community in Ireland and worldwide.
Improved genetic testing is helping to identify more cases, including rarer forms but raising awareness among both patients and healthcare professionals remains essential to reducing these delays.
If something doesn’t feel right, trust your instincts and keep advocating for yourself or your child.
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Warning Signs – When to Ask About PID
If you or your child experience several of the following, it may be worth asking your GP about PID:
- Eight or more ear infections in a single year
- Two or more serious sinus infections in one year
- Two or more pneumonias in one year
- Recurring deep skin or organ abscesses
- Persistent oral thrush or fungal skin infections
- Need for intravenous antibiotics to clear infections
- Two or more deep-seated infections
- A family history of primary immunodeficiency
Getting a Referral in Ireland
If you suspect you or your child may have a PID:
- Start with your GP , explain your concerns and ask for a referral to a clinical immunologist.
- Please be aware that waiting times for a referral to a clinical immunologist in Ireland can be long. Paatients may wait over 12 months for an initial appointment. If you are concerned about delays, speak to your GP about urgent referral pathways.
- Key centres in Ireland include St. James’s Hospital, Beaumont, Galway University Hospital and Children’s Health Ireland (CHI) at Crumlin and Temple Street.
Diagnostic Tests
Diagnosing a PID usually involves a combination of:
- Blood tests – to measure levels of antibodies, white blood cells and complement proteins.
- Genetic testing – to identify specific gene mutations.
- Functional tests – to assess how well the immune system responds.
- Newborn screening – Ireland recently expanded its National Newborn Bloodspot Screening Programme to include SCID. Read more here.
Treatment Options
Treatment depends on the specific type of PID a person has. Options include:
The most common treatment for antibody deficiencies. Immunoglobulin (Ig) products – considered essential medicines by the World Health Organisation – replace the antibodies the immune system is not producing adequately.
- Intravenous immunoglobulin (IVIg): Given in hospital every 3–4 weeks, typically takes 2–4 hours.
- Subcutaneous immunoglobulin (SCIg): Smaller doses given under the skin, often self-administered at home, typically every week.
- Facilitated subcutaneous immunoglobulin (fSCIg): A newer option allowing monthly home infusions.
- Haematopoietic Stem Cell Transplantation (HSCT / bone marrow transplant) – potentially curative for some PIDs
- Gene therapy – an emerging option for certain genetic forms of PID
- Thymus transplantation – used for specific conditions affecting T cells
- Prophylactic antibiotics, antifungals, and antivirals
- Monoclonal antibodies and targeted therapies
- Enzyme replacement therapy (e.g., for ADA1 deficiency)
- Granulocyte-colony stimulating factor (G-CSF) and cytokines
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Useful Links
IPOPI — What are PIDs (Treatment section)
