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 300 different kinds of PIDD. The immune system is composed of cellular components and products produced by immune cells. These are what are known as white blood cells, mostly lymphocytes of different varieties. These cells are made in the bone marrow, then travel through the blood stream, settling into the lymph nodes and other locations in the body, to protect and defend us from foreign invaders such as germs, bacteria, and fungi. Some of the cells make antibodies, which are proteins that circulate in our blood to fight infection and project immunity. Some of the lymphocytes are coordinators of this activity, both increasing and decreasing immune responses. Another blood protein that plays a protective role in the immune systems includes complement.

In the most common immunodeficiency conditions, some of the cells or the proteins they are expected to produce are missing or not functioning. This allows for a repeated pattern of infections or complications of a serious nature from common infections, or so-called opportunistic infections, which do not affect people with normal immune systems. Some primary immunodeficiency diseases have associated physical findings and conditions, including heart defects, growth disorders, physical deformities, or specific features. Also, some are connected to autoimmune disorders, which is another abnormality of the immune system in which the immune system begins to recognize the host (you) as a foreign invader, then launching an attack on specific organs or the whole body with potentially devastating consequences. (After diagnosis, we may refer you to another specialist such as a rheumatologist, or sometimes an endocrinologist in the event that the endocrine system is involved.)

Some primary immunodeficiencies become apparent in infancy, including severe combined immunodeficiencies (SCID). Other types of primary immunodeficiencies may not appear until later in childhood or as an adult. Important signs 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 needed to clear infections

  • Recurrent deep abscesses of the organs or skin

  • Family history of PIDD

  • Swollen lymph glands or an enlarged spleen

  • Autoimmune disease

Secondary immunodeficiency occurs when the immune system is compromised due to an environmental factor, such as infection with HIV, chemotherapy or high dose systemic steroids, severe burns, or severe malnutrition.

Primary immunodeficiency disease is treated by targeting the specific immune defect and can include transplantation (bone marrow, stem cells, or thymus), immunoglobulin replacement therapy, preventative antibiotics, and management of autoimmune disease. Gene therapy has also been successful in some types of immune deficiency. We have specialized training and expertise to accurately diagnose and coordinate a treatment plan for PIDD.