Frequently asked questions
Primary immunodeficiencies (PIDs) are a large and growing group of over 400 different disorders caused when some components of the immune system (mainly cells and proteins) do not work properly. PIDs are generally recognised as rare disorders, however, the people whose lives are profoundly affected by these PIDS represent an important group worldwide.
More details in this video by Prof Helen Chapel:
Most PIDs are caused by genetic defects that affect how the immune system develops or functions. Some forms are inherited, while others appear spontaneously.
People with PIDs often experience recurrent, severe or unusual infections, slow recovery, and in some cases autoimmune or inflammatory complications. Early recognition is essential for timely diagnosis and care.
Some PIDs can be cured with treatments such as haematopoietic stem cell transplantation or gene therapy. Many others are managed with lifelong therapies that reduce infections and improve quality of life.
Inheritance patterns vary. A genetic condition may skip generations, appear only when both parents carry a variant, or arise as a new (de novo) mutation. Genetic counselling can help families understand their specific situation.
Diagnosis typically involves clinical evaluation, laboratory tests of immune function, and in many cases genetic testing. Specialists in immunology coordinate this process.
PIDs are rare and symptoms can resemble more common infections. Raising awareness among clinicians and expanding newborn screening programmes help shorten the diagnostic journey.
Treatment options may include immunoglobulin replacement therapy, antibiotics, antifungals, targeted biologics, stem cell transplantation and, for some conditions, gene therapy.
IPOPI advocates globally for equitable access to diagnosis, medicines and specialised care, working with patient organisations, clinicians and policymakers.
With appropriate treatment and follow-up, many people with PIDs lead active lives. Support networks, education and self-care strategies make a meaningful difference day to day.
National Member Organisations (NMOs) of IPOPI offer local support, information and community. IPOPI also publishes educational resources for patients and families.
Registries help researchers and clinicians understand how PIDs present and progress, improve care standards, and accelerate the development of new treatments.
Speak with your care team about clinical studies or registries relevant to your condition. IPOPI shares opportunities and research programmes through its network.
You can support IPOPI by connecting with your national patient organisation, volunteering, donating, or joining advocacy and awareness campaigns.
IPOPI maintains a directory of National Member Organisations. Visit the Members section of the website to find the organisation closest to you.
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