Medical Topics Q&A

Patients should see an Allergist/Immunologist for an evaluation for Primary Immunodeficiency. If you can’t locate an Immunologist in your area, there are several resources available. Both patient support groups, the Immune Deficiency Foundation (IDF) and the Jeffrey Modell Foundation, will assist you in locating a physician. The American Academy of Allergy, Asthma and Immunology has a website to assist patients in identifying physicians in their states where they practice at www.aaaai.org. Other physicians who can be an alternative for an evaluation are Infectious Disease specialists1 and Hematologists/Oncologists.2

For therapy management, the physician who diagnoses the disorder usually treats PI. Commonly, the first dose of IgG therapy is administered in a controlled setting. It can be administered in all sites of care, for example, a hospital, an outpatient/ ambulatory infusion center, doctor’s office or in the homecare setting based on your condition and toleration of the medication.

Patients with Common Variable Immune Deficiency (CVID) may be at risk for long-term lung damage (bronchiectasis) due to chronic pulmonary infections.3 Patients also have reported hearing loss due to chronic ear infections.4

A school nurse is usually someone that does not specialize in one disease. The nurse may be well-rounded in many ways, but it can be challenging for the school nurse who may have limited exposure to certain rare diseases like primary immunodeficiency (PI).

I would recommend that you contact the Immune Deficiency Foundation (IDF) and provide your school nurse with a copy of the IDF School Guide. This educational tool can serve as a great introduction to PI. The IDF School Guide talks about building a health care team, and how the school nurse is an integral part of this team. The IDF has other resources that your school nurse may find helpful in understanding both the complexity of PI and any restriction that may be recommended for your child. Ideally, the school nurse can collaborate with your healthcare provider to support the needs of your child. The goal is to allow the child to be in a school environment, within his social network, and to be like other children, unless it’s not medically recommended.

The Jeffrey Modell Foundation offers some useful tools which can help your school nurse educate others in the community about PI, including their 10 Warning Signs of Primary Immunodeficiency poster and pocket guides, and a poster on the immune system. You can also visit our parenting section for information and resources on working with your school and your child’s educational rights.

Most patients do not receive gammaglobulin (IgG) treatment in the school setting. When planning for an IgG infusion, school schedules are usually taken into consideration. It may require the child to miss school to go to a hospital/infusion center for his/her IgG therapy. Due to the high cost of the medication and the higher complexity of administration, school personnel are not usually involved with immunoglobulin. If there are pre or post infusion medications that are recommended by the physician (for example, TYLENOL or ADVIL and or BENADRYL) this could be provided to the school to be proactive so the child could miss the least amount of school related to side effects of the medication.

Going off to college is a big step for the student as well as the parents. Infection control is a part of your lifestyle, but it may not mean the same for others. These are a few things to consider and investigate when going away to college:

1. If you have roommates, make sure they understand your concerns about infection control.
2. In a polite way, encourage your roommates to get a flu shot(s)/meningitis vaccine to prevent an unnecessary exposure.
3. If you require an air conditioner, apply to the housing office when picking a dorm. If a window unit is offered, then understand the risk of mold and how to clean the unit effectively.
4. Be proactive when moving into the dorm and thoroughly clean the room prior to moving in. Then develop a regular cleaning schedule.
5. You could consider a private room for health reasons, but the college may require a letter from your immunologist to support your idea.
6. Apply to live in the smallest dorm. Less people equals less germs.
7. Keep anti-bacterial wipes and/or sanitizers on hand.

Good luck with your college plans. Being pro-active can make all the difference and knowing your limitations can prevent you from getting rundown. You can do anything if you believe in yourself.

Primary immunodeficiency patients do have many different symptoms and complicated ways of presenting. Urinary tract infections are not usually a primary infection noted in immune deficiency but can be a secondary complication of repeated antibiotics usage.2 Yeast infections can also be a secondary infection.11 Recurrent yeast infections that occur without the use of antibiotics or oral steroid medications – or in children over the age of two – can be a potential sign of problems with your T cell immunity. Please discuss this with your primary care or immunology specialist to see if you need further evaluation.

Headaches and fever can both be present in infections of the sinuses. Unexplained fevers without infection, again, should be discussed with your primary care physician or specialist. This could be a sign of something more serious. 2

Diarrhea could be a sign of an intestinal infection.2 It depends upon the frequency, severity, and whether or not any other symptoms (such as flu-like symptoms) are present. Diarrhea can also be due to drinking from a water source that could have been contaminated, i.e., going camping or drinking well water.10 If it is a chronic problem, it is important to keep a diary of the symptoms and track when the diarrhea stops and starts, number of times in a day, if there is blood in the stool, if anything makes it worse or better, and if there are other symptoms. Seek medical attention.

Patients with certain PI disorders have also been known to develop autoimmune gastrointestinal disorders.2 Having a close relationship with your physician and identifying when the physician feels it is appropriate to notify him/her about a particular problem is the key to early diagnoses of more significant problems.

This discussion is important to have with your immunologist or primary care physician. For the most part, it is really dependent on the severity of your PI diagnosis. In general, the risk of infection is higher in the medical field. I have counseled adolescents that if they have a dream to help others, it may be a challenge, but position yourself in a part of the field where you limit your exposure to illness. Being a physician’s assistant in an orthopedic office or some other field that is not dealing with infections on a constant basis may be an option.

Let’s give another example. If you are a nurse, you could work as a nurse case manager, where you do not actually touch or see a patient. I have worked with a few immune deficient nurses and they clearly know that hand washing can be the number-one rule-of-thumb. Jobs are not easy to come by these days, so be proactive in your choices to prevent you from having secondary problems from your career path.

This is a common story we hear from patients. An IDF survey reports the average time it takes for diagnosis of PI is 12.4 years.5 This is partly due to our healthcare system being so fragmented. Communication between specialists is not always optimal. I would recommend that you try to collect medical records from your primary physician or specialist(s) that show all the documented infections that you and your children have had. Another way to collect the information is to have the pharmacy provide you a summary of all antibiotics used each year. Create a log or diary of the frequency, severity, and different types of infections over time. Include how long it took to resolve the infections. Did it require multiple antibiotics or was it just a prolonged infection that took a long time to resolve? This trend will help the physician understand if there is a specific type of immune deficiency.

There are now over 150 different types of diagnosed immune deficiencies.6 Providing an allergist/immunologist with a detailed history, including hospitalizations and any other medical conditions, may help the physician to identify if your family is dealing with primary immunodeficiency. The tests and possible immunizations listed in the JMF assessment of PI will give a clearer picture of what the problem may be. Do not give up if your gut instinct is telling you something is wrong. Contact the Immune Deficiency Foundation and they can give you guidance on the closest physician that specializes in PI.

Early diagnosis, regular monitoring by your healthcare professional (immunologist), and having the correct dose of immunoglobulin to fit your medical needs are important to having a “normal life expectancy.” Patients with PI do have added risk factors that may lead to other complications. We understand patients get tired of seeing multiple specialists, but close monitoring to watch for signs of complications, such as autoimmune conditions (thyroid or white blood cell dysfunction), lymphoma (cancer), gastrointestinal (liver and intestinal problems), and chronic lung problems should be done on a regular basis, based on your medical condition. Being proactive and being an informed consumer of your disorder is important.7

It is well recognized that the hospital may not be a safe place, and not just for patients with PI. Hospital-borne infections are a major issue for all patients, but can be more severe for patients with a compromised immune system.

The hospital can help by putting the patient in a private room in the infusion suite or at least having a separate area for routine infusions versus those who are in the clinic with infections. The use of masks by patients is probably not necessary but might make sense if the infusions are done in a large room with many patients. Most infections are transmitted hand-to-mouth. Thus, it is important for the infusion nurse to wash between patients, even if just running back and forth to check pumps or do vital signs. At a minimum, the use of an antibacterial hand wash will help.

It is equally important for the patient and parents to wash, especially before eating. How many children play with the common toys in the clinic and then eat lunch or snacks? You don’t have to be as paranoid as Monk on television, but some common sense precautions can reduce the risk of getting infections in the hospital as well as other places when you travel.

The key elements in diagnosing CVID are low levels of immunoglobulins in at least two classes, usually IgG and IgA, and decreased or absent specific antibody responses to immunization or infection. There are other, related, antibody defects, such as specific antibody deficiency with normal immunoglobulins, but a diagnosis of CVID implies that the levels are low for the patient’s age. The decision to treat is not as straightforward.

A doctor would be more likely to treat a patient who had multiple infections that had not responded to conventional therapy. There must have been something that triggered the diagnostic evaluation for immune deficiency. Usually, that would be recurrent infections, but occasionally it might be done for arthritis, inflammatory bowel disease, swollen lymph nodes, or even a malignancy. Not all of these symptoms respond to IVIG. In addition, CVID, or Common Variable Immune Deficiency, is, well, variable. Some patients may have borderline low immunoglobulin levels or reduced but not absent antibody responses. It can evolve over time, with a borderline abnormality at initial diagnosis but a more severe defect a couple of years later. Thus, an initial decision to continue treatment with antibiotics might change to start IVIG once the defect is more severe.

There is no specific level that would trigger an automatic decision to start IgG infusions, though, in general, the lower the level the more likely it would be that IgG infusions would be started. Thus, it would be uncommon not to start IgG infusions in a boy with Bruton’s agammaglobulinemia and an IgG level of 70 mg/dL, whereas a patient with CVID and an IgG level of 500 mg/dL might not be treated even though that level is still abnormal. Children normally have lower immunoglobulin levels than adults, so it is important that age appropriate normal ranges are used.2

If you do not understand why your doctor has decided not to treat your daughter you need to ask, and keep asking until you understand. No one is born understanding the immune system, and you have earned a right to an education. You can learn more about CVID and other immune defects by visiting web sites from patient groups such as the Immune Deficiency Foundation or the Jeffrey Modell Foundation.

There have not been any documented complications from the long-term administration of immune globulin. The first patients started in the early 1950’s and some continue to receive treatment. Obviously, there are side effects from IgG infusions, such as fever and chills, hives, headaches, and allergic reactions, as well as more serious, though rare complications such as reduced kidney function or blood clots. However, the risk of these complications does not increase over time.8

Some patients receiving subcutaneous gammaglobulin complain of some thickening of the skin or scarring at the sites, but that seems to be the exception. 9

Gammaglobulin products have improved over the years, and lead to fewer side effects than the early products that were available during the first three decades of use.8 Still, treatments should be done with attention to dose and rates of infusion to minimize the risk of any side effects. 9

There are many forms of PI, so one answer is not correct for everyone, but since most people refer to patients with antibody deficiency, we can focus on that set of immune defects. The primary protection from the MMR vaccine is due to the antibody response, even though it also induces some T cell immunity. Thus, if a child with PI cannot make antibodies, they won’t benefit from the MMR. The good news is that IgG infusions contain enough antibodies from healthy donors to protect someone from getting measles, mumps, or rubella. It also protects against exposure to chicken pox. IgG infusions are not sufficient to treat any of these virus infections if given after the infection begins, so it must be present at or shortly after exposure. In general the MMR vaccine is safe, but it should not be given to patients with PI who have significant T cell defects.

Common Variable Immunodeficiency (CVID) is not one disease, but a collection of several genetic diseases that have different types of immune defects. These diseases share common manifestations: at least two of the major immunoglobulins (IgG, IgA, and IgM) are significantly low for age, and antibody responses to common bacterial and viral infections or immunizations are poor.

If a child truly has CVID, then it is very unlikely that he or she will "outgrow" it and no longer need to receive infusions of gammaglobulin. However, very young children, under 2 or 3 years of age, may have delayed maturation of the immune system and be low for age, but able to "catch up." This is known as Transient Hypogammaglobulinemia of Infancy.

All children start with IgG from their mothers, but they have low IgA and IgM. They have to start making their own immunoglobulins after birth. The normal values for children are developed for the "average" child, but just as some children walk or talk at different ages, some children take longer to develop their immune system. Most of these children have low immunoglobulins, but can make antibodies well, and so they do not need to get infusions of IgG. But, some do have poor responses to infections and immunizations and get an unusual number or severity of infections. These children are sometimes diagnosed as CVID and treated. If the correct diagnosis is Transient Hypogammaglobulinemia then these children may "outgrow" their disease and no longer need to be treated.

It is sometimes difficult to distinguish between the two diagnoses in very young children, so it is appropriate to reevaluate children as they get older, say 5 or 6 years of age. Talk to your immunologist to see if reevaluation is appropriate for your child.

People with PI get infections more often and take longer to recover. However, when they are not experiencing an infection, they are likely to look like anyone else. There are many variables which affect whether a person with PI looks sick, including the type of PI and the type of therapy they are using. So a person with PI who’s receiving therapy and who’s not experiencing many infections may look healthy.

You can’t catch a primary immune disease. Primary Immune Deficiency (PI) is inherited, which means a person is born with altered genes received from his or her parents. People with PI are vulnerable to viral and bacterial infections, such as colds or sinusitis, and may “give” such an infection to another person, but the PI condition is not contagious. It is important to distinguish this from HIV infection, or AIDS, where the viral infection does destroy the T cells and therefore results in an immune deficiency. Because there is so much public awareness and concern about AIDS, it is important to explain the difference so that people will not be worried that they can become sick.