Key facts of Primary Immunodeficiencies and the Impact of a Diagnosis

• Over 550 forms exist, affecting people of all ages.
• Approximately 6 million people worldwide live with Primary Immunodeficiencies, yet 70-90% remain undiagnosed.
• Not contagious – these conditions are mostly genetic, meaning they are inherited, though some cases arise spontaneously.
• Frequent infections could indicate an underlying immune disorder.
• Timely diagnosis reduces hospitalizations, long-term complications, and improves quality of life.
• Treatment options vary and may include anti-infectious treatments, immunoglobulin therapy, targeted therapies, bone marrow transplant or gene therapy.
• Quality of life – with timely diagnosis and proper treatment, many can lead productive, fulfilling lives.

THE IMPACT OF DIAGNOSIS

A diagnosis transforms lives, enabling treatment and self-management.
Without a diagnosis:

• Infants with severe Primary Immunodeficiency may not survive past early childhood without extreme protective measures.
• Children may experience frequent illnesses, affecting education, social development, and overall quality of life.
• Adults may suffer from chronic infections and other manifestations that impact careers, family life, and mental health.

For patients already diagnosed with Primary Immunodeficiency, we encourage you to visit the PINSA website and consider joining their registry. This provides access to support, resources, and helps strengthen advocacy efforts for the PID community.

Download World PI Week Interactive Factsheet here>>