IMMUNODEFICIENCY

Primary Immunodeficiencies (PI) are a group of more than 400 disorders of the immune system with varying degrees of severity. They occur when one or more essential parts of the immune system do not work correctly. Primary Immunodeficiency often presents itself in the form of "ordinary" infections. While treating the infections is important. Missing the underlying cause, allowing the illnesses to recur, can leave the patient vulnerable to vital organ damage, physical disability, and even death.

WHAT ARE THE SIGNS AND SYMPTOMS OF PI?

There are a number of different signs and symptoms of Primary Immunodeficiency. 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 and repeated ear infections, pneumonia, bronchitis, sinusitis, or skin infections. 
Although less common, 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 believe 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 pathogens that only afflict PI patients. Therefore, the type of infection itself may serve as a red flag for a PI disease. 
Patients with Primary Immunodeficiency diseases may also present with a variety of autoimmune or rheumatologic problems. 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 Primary Immunodeficiency.

HOW IS PI TREATED?

Once a diagnosis is established, much can be done for immunodeficient patients. At a minimum, the recurring infections can be treated with low or moderate doses of appropriate antibiotics. These can help prevent permanent damage to the lungs and bronchial tubes, thus promoting the patient's long-term survival while improving their quality of life. When appropriate, immunoglobulin therapy is the accepted protocol for a wide range of Primary Immunodeficiency diseases. Advanced treatments such as the interleukins, PEG-ADA, and gamma interferon can help in some complex cases. Bone marrow transplantation and gene therapy may be the appropriate protocol for specific disorders.

Credit: The Jeffrey Moddell Foundation