Primary Immunodeficiency Diseases (PIDD)

According to the leading experts in immunology, when part of the immune system is either absent or not functioning properly, it can result in an immune deficiency disease. When the cause of this deficiency is hereditary or genetic, it is called a primary immunodeficiency disease (PIDD). Researchers have identified more than 150 different kinds of PIDD and they are continuing to identify new ones. If the immune system is damaged due to other factors (chemotherapy, HIV, malnutrition, etc.), the condition is called secondary immunodeficiency disease.

 

The immune system is composed of the liver, spleen, tonsils, lymph nodes, bone marrow, white blood cells and antibodies that work together to keep “foreign” invaders out of our bodies. The primary immune cell is the white blood cells. These cells are made in the bone marrow and travel through the bloodstream and lymph nodes. They protect and defend against attacks by germs, such as, bacteria and fungi or viruses.

In the most common PIDDs, different forms of these cells are missing. This creates a pattern of repeated infections, severe infections and/or infections that are unusually hard to cure. These infections may attack the skin, respiratory system, the ears, the brain or spinal cord, or in the urinary or gastrointestinal tracts. The most common infections sites are respiratory tract and skin.

In some instances, PIDD can be seen as part of a syndrome involving specific organs, glands, cells and tissues. For example, heart defects are present in some PIDDs. Other PIDDs alter facial features, some stunt normal growth and still others are connected to autoimmune disorders such as rheumatoid arthritis.

Important signs and symptoms that may indicate a PIDD include:

• Recurrent, unusual, or difficult to treat infections
• Poor growth or loss of weight
• Recurrent pneumonia, ear infections, or sinusitis
• Multiple courses of antibiotics or IV antibiotics necessary to clear infections
• Recurrent deep abscesses of the organs or skin
• A family history of PIDD
• Swollen lymph glands or an enlarged spleen
• Autoimmune disease

Some PIDD can mimic other conditions including allergy, asthma, or eczema and vice versa, so evaluation by an allergist is extremely helpful for reaching a diagnosis and developing an effective treatment strategy.

If you or a loved one is experiencing symptoms of PIDD, make an appointment with one of Charleston Allergy & Asthma’s immunology specialists.