Primary Immunodeficiencies (PIDs) are a large and growing group of over 200 different disorders caused when some components of the immune system (mainly cells and proteins) do not work properly. Whilst PIDs are generally recognized as rare disorders, some are more common than others and taken as a whole they represent an important group of people whose lives are profoundly impacted by their condition.
PIDs are caused by genetic defects of the immune system which are hereditary. The immune system normally helps the body fight off infections by germs (or ‘micro-organisms’) such as bacteria, viruses, fungi and protozoa. Because their immune systems do not work properly, people with PIDs are more prone than other people to infections. When PIDs are left underdiagnosed or misdiagnosed, the immune system remains defective, often leading to illness, disability, permanent organ damage or even death.
PIDs are currently classified into nine groups: predominantly antibody deficiencies; combined immunodeficiencies; combined immunodeficiencies with associated or syndromic features; diseases of immune regulation; congenital defects of phagocyte number or function, or both; defects of innate immunity; auto-inflammatory disorders; complement deficiencies, based on the main immunological defects; and phenocopies of Primary Immunodeficiencies.
Whilst it is estimated that around 60% of PIDs can be easily diagnosed with a simple and inexpensive blood tests, many PIDs remain underdiagnosed on a global scale. Hopefully, as the technical ability to identify gene defects improves, more and more genetic causes of PID will be identified. Screening for some of the most severe forms of immunodeficiency will also diagnose more individuals and improve treatment outcomes.
Medicine is advancing very rapidly and novel therapies that target the specific cause of the disease are becoming available. These may have significant advantages for PID patients and it is important that patients throughout the world have access to these treatment possibilities.
With appropriate access to the different and very effective therapies (such as Immunoglobulin replacement therapy and Bone Marrow Transplantation among others) which can only happen if early and correct diagnosis is made, many sequelae will be avoided and lives of patients will be saved.
This is why IPOPI is committed to continue to disseminate information to patients, their relatives and doctors and work towards better access to early diagnosis and treatment for all patients living with a PID.
For more information about PIDs and how they are treated, diagnosed and advice on how to stay healthy please refer to IPOPI PID patient information leaflet click here.