Q: What is Primary Immunodeficiency?
A: When a defect in the immune system is inherited (carried through the genes), it is called primary, or inherited, immune deficiency. There are over 100 forms of Primary Immunodeficiency, ranging widely in severity. Together, they affect more people than leukemia and lymphoma combined. Primary Immunodeficiency often presents itself in the form of "ordinary" infections. Physicians sometimes treat the infections while missing the underlying cause, allowing the illnesses to recur, and leaving the patient vulnerable to vital organ damage, physical disability, and even death. Families struggling with immunodeficiency often do not know where to turn for help. Social, emotional, and financial burdens can often be overwhelming. The problems presented in inherited immunodeficiency disease have challenged researchers and immunologists to reach improved diagnoses, treatments, and new therapies. Promising results in this area of immunology are also yielding benefits for victims of cancer, AIDS, autoimmunity, cystic fibrosis, and a wide range of pulmonary and allergic conditions.
Q: How is Primary Immunodeficiency diagnosed?
A: Correct diagnosis begins with awareness of the 10 Warning Signs. Once the condition is suspected, doctors can order blood tests and screenings to evaluate the function of the infection-fighting cells of the immune system.
Because Primary Immunodeficiency is genetic in nature, blood-relations of patients are often examined. Of course, tests should be ordered as soon as Primary Immunodeficiency is suspected, so that treatment may begin quickly if a problem is present. Sometimes even an unborn fetus can be tested for a specific disease.
Q: What are the signs and symptoms of having a Primary Immunodeficiency disease?
A: There are a number of different signs and symptoms of a Primary Immunodeficiency disease. Although it varies somewhat from individual to individual and disorder to disorder, there are some signs and symptoms that occur commonly in many of the disorders.
Perhaps the most common problem that patients with a PI disease have is increased susceptibility to infection. PI patients have too many, and often recurrent, infections. They may have recurrent ear infections (otitis), recurrent pneumonia, recurrent bronchitis, recurrent sinusitis or recurrent skin infections.
Less commonly, immunodeficient patients may have abscesses of their internal organs, such as the liver, or infections of their blood; however, the common theme is that they have more infections than they or their doctor believes is appropriate.
Not every patient with a PI disease presents with recurrent infections. In some patients, the first infection is serious enough to render the possibility of a PI disease. Moreover, there are certain infections caused by germs that only afflict PI patients, therefore the type of infection itself may serve as a red flag for PI disease.
Patients with Primary Immunodeficiency diseases may also present with a variety of autoimmune or rheumatologic problems. In some cases, the rheumatic disorder can take the form of systemic lupus erythematosis or rheumatoid arthritis and involve many organs and tissues. However, the rheumatic disorder may also only affect one organ and take the form of an isolated arthritis, kidney disease, thyroid disease, low platelet counts in the blood, or anemia.
Furthermore, gastrointestinal (digestive) problems may occur in some patients with a Primary Immunodeficiency disease. Patients may have excessive cramping, loss of appetite, nausea and diarrhea. In some patients, the gastrointestinal problems can be the result of an infection of the intestines - in others, they may be a reflection of an autoimmune or rheumatic disorder.