A primary immune deficiency is a condition where the immune system does not function properly. These conditions can be inherited or can occur spontaneously. More than 70 primary immune deficiency disorders are recognised by the World Health Organisation. The disorders range widely in severity.
Primary immune deficiency disorders generally manifest as "ordinary" infections, often of the sinuses, ears, or lungs, or as gastrointestinal problems or inflammations of the joints. Frequently these infections are chronic, and early diagnosis and treatment is essential to preventing the recurring infections from causing permanent damage.
The incidence of primary immune deficiency varies. Some disorders are relatively common, affecting one person in 400, while others are much rarer, affecting less than one person in 250,000.
Warning Signs
More than one of the following conditions could be a sign of a primary immune deficiency.
- Multiple ear infections (perhaps 6 to 8 in one year).
- Several proven serious sinus infections (perhaps 2 to 4 in one year).
- Need for prolonged oral antibiotics to clear infections (perhaps for more than 2 months).
- More than 2 episodes of proven pneumonia.
- Failure of an infant to gain weight or grow normally.
- Recurrent, deep skin or organ abscesses.
- Persistent thrush in mouth or elsewhere on skin, after age one.
- Need for prolonged intravenous antibiotics to clear infections.
- Two or more deep-seated infections such as meningitis, osteomyelitis, cellulitis or sepsis.
- A family history of primary immune deficiency.
As with all medical conditions, only direct examination by a physician should be used to determine the presence of primary immune deficiency.
Diagnosis
Early diagnosis of primary immune deficiency is important as ongoing infections can lead to complications such as damage to the lungs. The existence of a primary immune disorder can usually be established by a blood tests, although further tests may be required to determine exactly which disorder(s) are involved.
Treatment
Primary immune deficiency is usually a chronic disease requiring life-long treatment.
Prolonged courses of antibiotics are often required to combat infections. Frequently the antibiotics used are cycled to achieve the best effect.
Some patients require regular physiotherapy to help with drainage of mucous from the lungs.
Depending on the disorder, regular intravenous or subcutaneous gamma globulin replacement therapy may be prescribed to 'top up' patients who have low levels of antibodies in their blood. The dosage is determined by the type of disorder and the patients body weight.
Some rare disorders have been successfully treated by bone marrow transplantation (BMT).