A primary immune deficiency is a defect in the immune system which is inherited or can occur spontaneously. More than 180 PID disorders are recognised by the World Health Organisation. The disorders range widely in severity but share a common pattern:
Disorders generally show as repeated 'ordinary' infections, often of the sinuses, ears or lungs.
Primary immunodeficiency diseases are a heterogeneous group of disorders, which affect the cells, tissues and proteins of the immune system. Since their initial description in 1953, it has become clear that they are more prevalent than originally appreciated. It has also become apparent that they can present in older children, adolescents and adults and that they can be associated with relatively mild clinical disease.
Although the initial description of patients with primary immunodeficiency diseases focused on their increased susceptibility to infection, these patients may also present with a variety of other clinical manifestations. In some patients with primary immune deficiency disorders, non-infectious manifestations such as autoimmune disease and/or gastrointestinal disease may dominate their clinical course.
The incidence of PID varies across the various disorders. Some disorders are relatively common, affecting 1:500 people. Others are much rarer, affecting less than 1:250,000 people.
If you or a child is affected by more than one of the following signs, speak to your doctor about the possibility of primary immune deficiency:
NOTE: As with all medical conditions, only direct examination by a physician can determine the presence of PID disorders.
If your doctor suspects you have a PID disorder you should be tested as soon as possible. Early diagnosis is important as ongoing infections can lead to complications such as organ damage and tissue scarring. Usually a blood test will give the doctor an indication that there is a problem with the immune system. Further tests may then be required to determine which exact disorder is the cause.
PID disorders are usually chronic conditions requiring life-long treatment.
Prolonged courses of varied antibiotics are often required to combat infection. Other medications can also be used depending on the disorder. Some patients require regular physiotherapy to help clear the lungs of mucus.
Some people may require regular immunoglobulin therapy (or Gammaglobulin; commercially called Intragram in Australia and New Zealand). Gammaglobulin is extracted from donor blood and is used to increase the level of antibodies in the blood. This can be given either intravenously at the hospital, or at home subcutaneously.
Some rare disorders are treated by bone marrow transplantation (BMT) .
Though some PID disorders can be serious, they are rarely fatal and with regular treatment most can be well controlled. The key is for patients to be diagnosed as early as possible to prevent the long term complications.
Research into PID disorders is ongoing throughout the world with many developments in our understanding of the genetic causes of these conditions. This work will hopefully bring better ways of treating and maybe curing PID disorders in the future.
Information can make a big difference between coping with difficulties and going under with the stress! IDFA is committed to providing our members with as up-to-date information as possible, answering all questions as accurately as we can. We have the resources of an expert medical panel to help our staff find the information and advice that is needed. We hope that by understanding their disorder, families will be empowered to make well informed decisions about their health care.