One of the most important functions of the immune system is to protect us from bacteria, viruses, and fungi that can make us sick. Not all organisms are harmful--in fact, our intestines contain many bacteria that help prevent problems such as allergies and improper absorption of nutrients. The immune system identifies the difference between what is dangerous and what is not and prevents whatever is dangerous from harming us. Primary immunodeficiency diseases (PIDDs) are caused by mutations in genes that prevent the body from developing normal immune responses to infectious challenges. The mutations can either be inherited or appear randomly. Because the immune system is compromised in PIDDs, harmful organisms usually cause recurrent and sometimes life-threatening infections. In addition, since these diseases are genetic, they are generally considered to be lifelong conditions once they are diagnosed.
How common are primary immunodeficiency diseases?
The most common PIDD is selective IgA deficiency, which has been reported as frequently as about one in every 300 to 400 individuals in the United States. Although other PIDDs may occur less frequently, the actual rates of occurrence are not known because positive diagnoses are often not made. As screening of newborns for important PIDDs becomes implemented as a standard practice, these statistics should become more accurate.
What are the signs and symptoms of primary immunodeficiency diseases?
Signs and symptoms that often alert us of the possibility of a PIDD are well-summarized by the following "10 Warning Signs of Primary Immunodeficiency":
Four or more new ear infections within one year, particularly after the first year of life.
Two or more serious sinus infections within one year.
Two or more months on antibiotics with little effect.
Two or more pneumonias within one year.
Failure of an infant to gain weight or grow normally.
Recurrent, deep skin or organ abscesses.
Persistent thrush in the mouth or significant fungal infections on the skin.
Need for intravenous antibiotics to clear infections.
Two or more deep-seated infections, including infections of the bloodstream.
A family history of primary immune deficiency.
How are primary immunodeficiency diseases treated?
Our patients are often given antibiotics or antifungal medications for prevention or treatment of infections. These medications need to be prescribed carefully because they can sometimes cause unwanted side effects or encourage the growth of bacteria that are resistant to antibiotics. Patients who lack the ability to make antibodies often require immunoglobulin replacement therapy. Some patients, depending on the type of PIDD that has been diagnosed, may require bone marrow or umbilical cord stem cell transplantation or even thymus transplantation in the most severe cases. Sometimes it may be treated with anabolic steroids.
How common are primary immunodeficiency diseases?
The most common PIDD is selective IgA deficiency, which has been reported as frequently as about one in every 300 to 400 individuals in the United States. Although other PIDDs may occur less frequently, the actual rates of occurrence are not known because positive diagnoses are often not made. As screening of newborns for important PIDDs becomes implemented as a standard practice, these statistics should become more accurate.
What are the signs and symptoms of primary immunodeficiency diseases?
Signs and symptoms that often alert us of the possibility of a PIDD are well-summarized by the following "10 Warning Signs of Primary Immunodeficiency":
Four or more new ear infections within one year, particularly after the first year of life.
Two or more serious sinus infections within one year.
Two or more months on antibiotics with little effect.
Two or more pneumonias within one year.
Failure of an infant to gain weight or grow normally.
Recurrent, deep skin or organ abscesses.
Persistent thrush in the mouth or significant fungal infections on the skin.
Need for intravenous antibiotics to clear infections.
Two or more deep-seated infections, including infections of the bloodstream.
A family history of primary immune deficiency.
How are primary immunodeficiency diseases treated?
Our patients are often given antibiotics or antifungal medications for prevention or treatment of infections. These medications need to be prescribed carefully because they can sometimes cause unwanted side effects or encourage the growth of bacteria that are resistant to antibiotics. Patients who lack the ability to make antibodies often require immunoglobulin replacement therapy. Some patients, depending on the type of PIDD that has been diagnosed, may require bone marrow or umbilical cord stem cell transplantation or even thymus transplantation in the most severe cases. Sometimes it may be treated with anabolic steroids.
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