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FAQs

https://s3.amazonaws.com/jmf-stage/images/QuestionMarks-resize-248x149-533edd4b22eab-originalDo you have questions about PI? If you or someone you know is affected by Primary Immunodeficiency, or has been recently diagnosed, we can provide some answers for you. We understand it can be overwhelming and complex. That is why we have compiled a list of Frequently Asked Questions to better answer the unknowns you may have at this time. 

To get started, choose from one of the questions below:

  • Q: What is Primary Immunodeficiency?

    A: Primary Immunodeficiencies (PI) are a group of more than 200 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. 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 Primary Immunodeficiency often do not know where to turn for help. Social, emotional, and financial burdens can often be overwhelming. The problems presented in Primary Immunodeficiency disease have challenged researchers and immunologists to reach improved diagnoses, treatments, and new therapies. 

  • Q: What are the signs and symptoms of having a Primary Immunodeficiency disease?

    A: 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 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. 

  • Q: How can Primary Immunodeficiencies be treated?

    A: 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 in specific disorders. 

  • Q: What is it like to live with Primary Immunodeficiency?

    A: There has never been more hope for people who are immunodeficient. All the same, families struggling with any Primary Immunodeficiency disease face a number of difficulties. For instance, the patient may have long periods of normal health, then suddenly be struck by high fevers, pneumonia, or any of the other problems noted above. 

    Lack of public awareness for PI diseases can make the family feel isolated in its attempts to cope. Until recently, public sources of information have been scarce, even for doctors. Also, many patients and parents find they cannot get teachers, principals, employers, and others to understand the nature of the medical problem at hand. 

  • Q: If Primary Immunodeficiency diseases are genetic or congenital, why is it that some of these defects are diagnosed in adults?

    A: It is possible that these defects are present all along, but not diagnosed due to compensating immune functions that keep serious problems from developing earlier. It is also possible that there is a slowly deteriorating immune function, genetically determined, that does not become significant until later in life. 

  • Q: Can diet help fight infections?

    A: YES. Good nutrition gives the body the energy and the resources to fight infections. Eating right always makes good sense, and families with antibody deficiencies should take extra care to maintain a healthy and balanced diet. 

  • Q: Why is it that physicians don't always seem aware of these immune defects?

    A: In the last 25 years, it has become clear that immune defects are more common than originally thought. In the United States, most specialists who see and treat patients with congenital immune defects are pediatricians, and many physicians are not aware that adults may be found who have these defects, not just infants and children. 

  • Q: What is an antibody deficiency?

    A: An antibody deficiency is an immune defect that limits the body’s ability to identify “foreign invaders” or pathogens. 

    In a fully functional immune system, specialized cells produce antibodies, which contribute to immune defenses by binding to the invading cell or particle, identifying it for destruction. In patients with antibody deficiency, these specialized proteins may be missing, not working properly, or too few in number to be effective. 

    Antibody deficiencies are classified as either “primary” or “secondary.” Primary antibody deficiencies arise spontaneously from genetic errors and other mechanisms that are only partially understood. Primary antibody deficiencies can either involve all antibodies or be limited to specific types of antibodies. 

  • Q: Is antibody deficiency the same as AIDS?

    A: NO. Acquired Immune Deficiency Syndrome (AIDS) is a widespread disruption of the immune system caused by a specific viral infection known as human immunodeficiency virus (HIV). Primary antibody deficiencies (and most secondary antibody deficiencies) are not contagious, and do not present any risk to other people. In fact, healthy people carrying infections pose a threat to people with antibody deficiencies because those with deficiencies are so vulnerable to infections. 

  • Q: What are the symptoms of antibody deficiencies?

    A: Antibody deficiencies limit the ability of the immune system to recognize and respond to infections caused by bacteria, viruses, or other pathogens. A patient with an antibody deficiency will therefore tend to have both more frequent and more severe infections, and infections will often be of longer duration. These patients are also less capable of “developing immunity,” and as a result, often suffer from chronic and recurring infections. 

  • Q: How can a doctor confirm a diagnosis of antibody deficiency?

    A: When it is suspected that a patient's immune system is not working properly, the physician can run a set of laboratory tests to confirm the diagnosis. For most people, all that is required is a blood sample and a vaccination test, then a second blood test 2 to 3 weeks later. Examination of the first blood sample will determine whether any of the cells needed to complete immune response are missing, and whether antibodies are present in adequate amounts. 

    The vaccination and second blood test are performed to determine if functioning antibodies are being produced by the body against specific organisms. The vaccination introduces a noninfectious foreign protein to the immune system. When the second blood test is done at the return visit, it should reveal the presence of antibodies created specifically to fight against the test protein. A lack of specific antibodies demonstrates an inability to mount an effective defense against infections. 

  • Q: Can antibody deficiencies be treated?

    A: YES. Many years ago, the only form of active treatment for antibody deficiency was antibiotic therapy, and the only form of prevention was isolation. For children, this meant staying out of school and out of contact with other children and adults. 

    Today, however, antibody replacement therapy is available. Because antibodies are also known as immunoglobulins, the term “immunoglobulin therapy” is commonly used. This treatment can be given intravenously (IVIG) or subcutaneously (SCIG). 

    IVIG and SCIG therapy replace the antibodies that are missing. The infusion contains antibodies purified from plasma donated by volunteer donors. These antibodies remain in circulation for about a month. 

  • Q: Is IVIG therapy successful?

    A: YES. IVIG infusions help to restore the missing antibody protection against infections, allowing the patient to lead a normal life. 

    Since a normal life does involve getting sick sometimes, patients receiving IVIG therapy may still have an occasional cold or infection that needs treatment with antibiotics. However, they will have far fewer, milder, and more controllable infections than they had before starting IVIG therapy. This means that they will be able to lead more active, less restricted lives. 

  • Q: Are there different kinds of IVIG products, and how is it determined what type you get?

    A: There are several different IVIG products on the market. All are > 95% IgG, the main serum protein that contains protective antibodies. They differ from each other in strength, bottle size, storage (some are liquid, others are powder that have to be reconstituted), excipients (substances added to the IgG such as sugar or albumin to stabilize the product), manufacturing, and viral inactivation methods. 

    All should be free of Hepatitis C and HIV and other pathogens, which is accomplished during the manufacturing process. All of the products have protective antibodies against common viruses and bacteria. Thus, all are of value in the treatment of primary antibody immunodeficiencies. 

    Some products are lower in IgA, a minor immune globulin that may sensitize individuals who lack serum IgA but can make antibody to the infused IgA. For a patient with a selective IgA deficiency who needs IVIG (most do not need it), such products may be preferred. 

  • Q: Are there side effects with IVIG therapy?

    A: Therapy is safe, but some patients can experience side effects, such as fever, chills, rash, headaches, muscle aches, or abdominal pain. These side effects resemble flu symptoms, and many can be reduced by slowing the rate of infusion or by taking analgesics like aspirin, ibuprofen, or acetaminophen. 

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