About Primary Immune Deficiency

What is Primary Immune Deficiency?

Primary Immune Deficiency (PID) is not contracted, and cannot be caught — it’s simply a genetic condition which people are born with. PID is a rare disease (i.e.1< in 10,000 as defined by the Australian Rare Disease Community).

Primary Immune Deficiencies (PID) or Primary Immunodeficiency (PI) are a deficiency or deficiencies that weaken the immune system, which usually leads to infections and other health problems.

The majority of people with PID are born with a flawed immune system — they’re either missing types of antibodies, or have antibodies that fail to work the way they should. This leaves them much more susceptible to bacteria or germs which can cause infections.

Some forms of PID are mild in the fact that they don’t result in debilitating illness for the individual until they reach adulthood, while others such as Severe Combined Immune Deficiency (SCID) result in poor health and without immediate intervention, death for newborns.

Most people with PID undergo immunoglobulin and antibiotic therapy. Many need to take extra care to avoid getting more infections, which can lead to isolation and most have other chronic secondary diseases.

Symptoms

One of the most common signs of PID is having infections that increase in frequency, or length; or infections that don’t clear up as easily as they do for others. Bugs that wouldn’t usually result in infection for people with a normal immune system, can often lead to infections in people with PID.

The signs and symptoms are different depending on which type of PID a person has and often the specifics of that person’s deficiency.

Common signs and symptoms of PID can include:

  • Frequent and recurring pneumonia and other lung infections, sinus infections, ear infections or skin infections.
  • Recurrent viral infections.
  • Digestive problems such as unexplained weight loss, nausea, diarrhea.
  • Failure to thrive in children.
  • Blood disorders such as low platelet count and anemia.
  • Autoimmune disorders.
  • A history of PID in the family

The importance of diagnosis

Statistics published by The Immune Deficiency Foundation (IDF) show that diagnosis of PID typically takes 12 years from the patient first exhibiting symptoms. However, some wait even longer and others succumb to infection, having never been diagnosed. We believe there is a need for these people to have access to advocacy to assist in attaining earlier diagnosis through educating the medical profession on PID.

Early diagnosis and undertaking immunoglobulin and or antibiotic therapy reduces patient complications, increasing life expectancy further reducing the risk of organ damage and subsequent need for transplant organs.

Treatment

Treatments for Primary Immunodeficiency in Australia such as Immunoglobin replacement therapy (IRT) for those who qualify can be immensely helpful. Others may benefit from prophylactic antibiotics to help prevent infections.

Research into PID is ongoing, with knowledge gained leading to being able to better treat and manage people with PID. This in turn will lead to better outcomes and better quality of life for patients and their carers.

 

Find out more about Immunoglobulin replacement therapy.