Diagnosis

It can take many years to be diagnosed with a Primary Immune Deficiency. Early diagnosis and treatment of disorders is essential to prevent the recurring infections from causing permanent damage.

Diagnosis of a Primary Immune Deficiency is usually made by an immunologist. Immunologists are Specialist Doctors trained to diagnose, manage and trear allergies, asthma and immunological disorder including Primary Immune Deficiencies. In Australia, the peak medical body for Immunologists is ASCIA.

To help decide whether recurrent infections could be due to primary immunodeficiency, your doctor will begin by asking a number of questions, such as what health problems you have, how long infections last, how severe they are and whether they respond to treatment. Your doctor will also want to know whether any close relatives have an inherited immune system disorder. Your doctor will perform a physical examination to look for clues that may indicate the cause of your illness. Primary immune disorders are rare, so your doctor will want to be sure your signs and symptoms aren’t caused by a more common health problem.

There are several tests used to diagnose an immune disorder. They include:

  • Blood tests. In most cases, blood tests can reveal abnormalities in the immune system that indicate an immune deficiency disorder. Tests can determine if you have normal levels of infection fighting proteins (immunoglobulin) in your blood. Tests can measure the levels of different blood cells and immune system cells. Abnormal numbers of certain cells can indicate an immune system defect. Other blood tests can determine if your immune system is responding properly and producing antibodies — proteins that identify and kill foreign invaders such as bacteria or viruses.
  • Identifying infections. If you have an infection that’s not responding to standard treatment, your doctor may do tests to try to identify exactly what germs are causing it.

Being diagnosed with a Primary Immune Deficiency can be an overwhelming experience.IDFA is the support organisation for patients, carers, friends and families of people diagnosed with PID. Our members have a variety of health issues. Many struggle to make life as normal as possible within the restrictions placed on them by their health. We have found that with the support and understanding of people who have experienced similar problems, we can make it through the hard times and enjoy the good times.

Resources

IPOPI Diagnosis of Primary Immune Deficiencies IPOPI publication. This booklet explains how Primary Immune Deficiencies are classified and diagnosed. PDF, 541 KB.

IPOPI PIDs in adults – IPOPI publication. This booklet explains what PIDs are and how they are managed in adults. PDF, 649 KB.

 

Skip to toolbar