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Frequently Asked Questions
We have compiled a list of questions often posed by patients, their families and friends, as well as discussed among physicians. If you have any inquiries that are not addressed here, you can submit a question by contacting the JMF via email at info@jmfworld.org or through our toll-free hotline
at 1-866-INFO-4-PI.
 
 BASICS ABOUT PI
What is Primary Immunodeficiency?
What are the signs and symptoms of having a Primary Immunodeficiency disease?
How can Primary Immunodeficiencies be treated?
What is it like to live with Primary Immunodeficiency?
Is it possible to outgrow a Primary Immune Deficiency disease?
How long will a primary immunodeficiency disease stay within a family's gene pool?
If Primary Immune Deficiency diseases are genetic, or congenital, why is it that some of these defects are diagnosed in adults?
Can diet help fight infections?
Why is it that physicians don't always seem aware of these immune defects?
What type of information should you take to a Genetics Counselor and what should you expect in return?
 
 ANTIBODY DEFICIENCY
What is an antibody deficiency?
Is antibody deficiency the same as AIDS?
What are the symptoms of antibody deficiencies?
How can a doctor confirm a diagnosis of antibody deficiency?
Can antibody deficiencies be treated?
 
 IVIG
When is IVIG used and what disorders does it treat?
Is IVIG therapy successful?
What sort of follow-up and monitoring is needed while on IVIG?
Why can't family members donate blood for the IVIG therapy treatments?
Are there different kinds of IVIG products and how is it determined what type you get?
Are there side effects with IVIG therapy?
What is gene therapy and how can it benefit patients with Primary Immunodeficiency diseases?



 
 BASICS ABOUT PI
 
Q: What is Primary Immunodeficiency? Top Top
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 150 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: What are the signs and symptoms of having a Primary Immunodeficiency disease? Top Top
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 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 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.

Q: How can Primary Immunodeficiencies be treated? Top Top
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 the 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? Top Top
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. The illnesses themselves are frightening, the lack of a definite diagnosis and treatment is frustrating, and "waiting for the next attack" can turn even healthy periods into times of great anxiety.

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, etc. to understand the nature of the medical problem at hand. Treatment can be very costly, especially if IVIG treatment is involved. Lack of adequate insurance can add to this problem.

Q: Is it possible to outgrow a Primary Immune Deficiency disease? Top Top
A: Primary Immunodeficiencies are a diverse group of disorders that predispose patients to recurrent infections. There are several forms. All of the forms may involve one or more parts of the immune system. These parts include the neutrophil, complement, cellular (T-cell driven) and humoral (B-cell driven) components. Patients who have neutrophil, complement and T-cell disorder rarely outgrow their immunodeficiency. Some patients with T-cell disorders like DiGeorge Syndrome may increase their T-cell numbers as they progress in age. This is often associated with improving T-cell function.

The most common immune deficiency that seems to resolve with age is transient hypogammaglobulinemia. These patients develop symptoms at approximately six months of age. This is about the time when the maternal antibodies are diminishing in the infant's circulation. At this point, the infant may not be able to completely maintain his/her immunoglobulins on his/her own. Infections may occur during this time. Serum immunoglobulins in the infant may ultimately reach normal levels at four to six years of age. Other immunodeficiencies, such as IgA deficiency, may also resolve with age.

Q: How long will a primary immunodeficiency disease stay within a family's gene pool? Top Top
A: Genes may be passed on to any of our offspring, but how they are passed on, and to which children, depends on the way the gene is inherited and expressed. Usually, a specific gene is only passed on to some of the children, but not all. If the gene for a Primary Immunodeficiency disease is passed on from parent to child, it may then be passed on from that child to some of their children, and so on and so on. In each generation there is some chance that the gene will be passed on. Therefore, a gene for a Primary Immunodeficiency disease, like any other gene, can stay in a family's gene pool for many generations.

Q: If Primary Immune Deficiency diseases are genetic, or congenital, why is it that some of these defects are diagnosed in adults? Top Top
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? Top Top
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? Top Top
A: In the last twenty 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 defect are pediatricians and many physicians are not aware that adults may be found who have these defects, not just infants and children.

Q: What type of information should you take to a Genetics Counselor and what should you expect in return? Top Top
A: Genetics Counselors can be very helpful, but it is important for patients and their families to prepare for a meeting with a Genetics Counselor by obtaining certain pertinent and organized information. Since some genetically determined disorders are inherited in predictable patterns, knowing who in the family may have had the disorder previously can be valuable information. The family history of both the father and mother is pertinent. In addition, understanding how everyone is related and to whom they are related is necessary in interpreting the pattern of inheritance. Finally, if the parents are all blood related (even distantly) that information should also be provided. A qualified genetics counselor will gather the family information and the information obtained by testing the patients’ genes. Then he/she will provide information on the way in which the disorder can be inherited, how it may have been inherited in your specific family, the chances that future children will be affected with the disorder, and who in the family may carry the gene but not be affected. He/she will also provide information on what reproductive options the family may have, should they decide to have more children.

Most importantly, the Genetics Counselor will not tell the family what decisions they should make regarding their reproductive options. Their primary responsibility is to provide information, help families understand that information and apply it to their own situation. The decisions the family makes based on that information is the family’s responsibility, since it is made in accordance with their own personal choices and beliefs.

 
 IVIG
 
Q: What is an antibody deficiency? Top Top
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? Top Top
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? Top Top
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? Top Top
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 two to three 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? Top Top
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).

IGIV and SCIG therapy replaces the antibodies that are missing. The infusion contains antibodies purified from the blood donated by American volunteer donors. These antibodies remain in circulation for about a month.

 
 IVIG
 
Q: When is IVIG used and what disorders does it treat? Top Top
A: IVIG is used for three purposes; for patients who do not make antibodies or gammaglobulin, for patients with specific infections, and for patients with autoimmune and inflammatory diseases. Some individuals make no or too few antibodies and thus suffer from recurrent infections. Sometimes the antibody producing cells (B-cells) of individuals have an intrinsic inability to make antibodies; these are patients with Primary Immunodeficiency diseases, and many require life-long IVIG infusions. Examples include X-linked Agammaglobulinemia and Common Variable Immunodeficiency.

Blood tests are available to determine if a patient has low antibodies and needs IVIG. Since this treatment is often life-long and very expensive, careful testing needs to be done prior to starting IVIG. Indeed, like other drugs, IVIG may have side effects, so its use is reserved for just a few patients.

A second use of IVIG is in the treatment of certain infections in which antibiotic or antiviral therapy is ineffective. Examples include severe parvovirus infection and chronic viral meningitis. These patients do not require life-long IVIG and it can be discontinued after the infection is controlled. A final use of IVIG is in certain inflammatory and immunologic diseases, often of unknown causes. Examples include an acute fever-causing childhood disease termed Kawasaki disease, and a blood disease termed immune thrombocytopenia (ITP), where the blood platelet levels are low and the patient develops bruising or bleeding.

Q: Is IVIG therapy successful? Top Top
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, 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: What sort of follow-up and monitoring is needed while on IVIG? Top Top
A: Close follow-up of patients on IVIG is important. Moreso than any of the laboratory parameters or serum immunoglobulin levels, clinical improvement is the target of replacement therapy. Careful attention to both specific and non-specific complaints is mandatory and is the major issue when considering adjustments in therapy such as dosing or frequency of infusions.

In patients with Primary Immunodeficiency of the humoral (antibody-mediated) immune system, IVIG replacement therapy is started to prevent infections. As a result, the primary follow-up issue is "has IVIG reduced the number of infections?" A simple diary is an excellent tool to monitor several key issues on a month-to-month basis between infusions. The major questions are: Have you had any infections since your last infusion? What were the symptoms? Did you see a health care professional? Did you visit the emergency room? Or need hospitalization? Since replacement therapy generally requires several months to reach a stable plateau level, it may take several months to appreciate significant reductions in the number of infections.

Prior to beginning treatment and as a baseline for further follow-up, a number of laboratory assessments are generally recommended. These include a complete blood count and differential cell count, liver function tests, biochemistry panel, and culture and sensitivity of sites of infection. Baseline pulmonary function testing is important as is a high resolution CT scan of the chest. The latter is helpful in determining if bronchiectasis is present, and is much more sensitive than a routine chest X-ray. Baseline serum immunoglobulin levels and antibody titers post-vaccination should have been obtained in establishing the diagnosis of antibody deficiency.

Once IVIG treatment begins and symptoms are regularly monitored, routine testing (CBC, liver function tests, spirometry) may be obtained every 4-6 months. If bronchiectasis was present, a CT at least every 12 months to assess progression or improvement may be necessary.

Symptoms are the important parameter regardless of the serum levels of IgG. The levels of IgG can be used to ensure that suitable levels have been achieved and maintained and that hypercatabolism is not a problem.

Q: Why can't family members donate blood for the IVIG therapy treatments? Top Top
A: IVIG is made from the pooled plasma of many donors for several different reasons. One reason is that people who need antibody replacement need a very broad coverage of antibodies, so that they have protection from a wide variety of diseases. Therefore, blood plasma from a single donor will only have antibodies against a limited variety of microorganisms. Pooling blood from a number of subjects makes this more possible. The pooling process is rather like consulting a large library for answers to complex questions, rather than just one not-very- complete reference book. The other reason is that IVIG given to humans has to be shown to be safe and effective. The only way to do this is to test a specific product and do quality control on all the lots using the same standards. The only practical way to do this is to make large batches in a factory setting. Current lots are usually made with plasma from 50-60,000 or more units of plasma. No individual family could donate enough plasma to make this possible.

Q: Are there different kinds of IVIG products and how is it determined what type you get? Top Top
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, but this is not 100% guaranteed since they are all derived from plasma from human donors. For the most part, 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.

There are differences in side effects with different products. Sometimes patients experience more adverse reactions with the new products than with the original products. For this reason, most patients that are doing well on one product usually stick with that product.

Conversely, if a patient has a reaction to one product, the doctor may want to try a different brand. Oftentimes, hospitals, clinics, and home infusion companies only stock one or two brands of IVIG because one company may hold the contract for that institution. If the patient has been shown to tolerate only one brand of IVIG, the hospital or clinic can often special-order the well-tolerated brand. We recommend this only if the patient is reacting to one IVIG brand. The brands may differ in cost, depending on local shortages, and the hospital or clinic pharmacy.

Q: Are there side effects with IVIG therapy? Top Top
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.

Q: What is gene therapy and how can it benefit patients with Primary Immunodeficiency diseases? Top Top
A: Gene therapy is a new technology aimed at replacing the function of, or repairing abnormal disease-causing genes in patients with genetic diseases (such as the Primary Immunodeficiency Diseases). In one form of gene therapy, samples of cells from the immune system are taken from the patient's blood or bone marrow, the normal gene is introduced into these cells and they are given back to the patient. In another form of gene therapy, the abnormal genes in the patient's cells are fixed within the cell. Gene therapy has already proven to be successful therapy for Severe Combined Immunodeficiencies and is under development for other Primary Immunodeficiencies.

  
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