Primary immunodeficiency diseases are rare genetic disorders that impair the immune system. Without a functional immune response, affected people may be exposed to chronic and debilitating infections, such as the Epstein Barr Virus, which can increase the risk of cancer.

Some disorders of primary immunodeficiency can be fatal, according to the National Institute of Allergy and Infectious Diseases.

Primary immunodeficiency is among the rare diseases, a genetic disease caused by disorders of the immune system, and the most common symptoms of primary immunodeficiency - of which more than 450 types have been identified so far - are infections.

In this report - published by the Turkish newspaper Milliyet - Board member of the Turkish National Society of Allergy and Clinical Immunology, Professor Sevci Kilic, touched on the symptoms that should be noted for early treatment before the condition worsens and organs are damaged.

What is primary immunodeficiency?

The immune system protects the body from diseases, and it consists of many cells and proteins, and primary immunodeficiency results from genetic diseases that cause disorders in this system.

At what age does it appear?

Although symptoms often begin in childhood, they may be delayed until adulthood.

How is primary immunodeficiency diagnosed?

The most common reason that prompts people with this disease to consult a doctor is because of repeated infections, and the following are 10 symptoms that indicate primary immunodeficiency:

  • Otitis media more than 4 times per year.

  • Sinusitis more than twice a year.

  • The need to use antibiotics for more than two months.

  • Pneumonia more than twice a year.

  • Excessive or delayed growth.

  • Frequent skin abscesses.

  • Drug-resistant fungal infection inside the mouth or on the skin.

  • The need for intravenous antibiotics to control the infection.

  • Having two or more deep tissue infections.

  • Having a family history of immunodeficiency.


How is the treatment after the disease is diagnosed?

Treatment varies according to the type of infection, and while some preventive antibiotics are sufficient, immunoglobulin therapy and stem cell transplantation are necessary in severe cases.

It is very important to treat infections from primary immunodeficiency early with appropriate antibiotics, and delayed treatment of infections can lead to serious organ damage.

Which category should you check?

Individuals who have two or more of the ten warning signs listed above should see a doctor immediately.