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:
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Recurrent, unusual or difficult to treat
infections
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Poor growth or loss of weight
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Recurrent pneumonia, ear infections, or
sinusitis
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Multiple courses of antibiotics or IV
antibiotics needed to clear infections
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Recurrent deep abscesses of the organs or skin
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Family history of PIDD
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Swollen lymph glands or an enlarged spleen
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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.