What is PI?
(Primary Immunodeficiency)

The immune system guards our body from invading infections. When a defect in the immune system is inherited (carried through the genes), it is called Primary Immunodeficiency. Because of the genetic nature of PI, some patients may be the first in their families to be afflicted and would, therefore, have no known family history.

There are over 150 forms of PI (Primary Immunodeficiency) , which range widely in severity. Together, they affect more people than leukemia and lymphoma combined. In Canada, approximately 13,000 people (1 in 2,500), mostly children, suffer from PI.

Patients with PI often have what seem to be “ordinary” infections. As a result, physicians sometimes treat the infections not realizing that there is an underlying cause, which is allowing the illnesses to recur, and can leave the patient vulnerable to vital organ damage, physical disability and even death.

back top

What are the Warning Signs?

There are two sets warning signs one for children & teens
and one for adults (see below)

10 Warning Signs
of Primary Immunodeficiency for Children & Teens

If you or your child is affected by two or more of the 10 Warning Signs, ask your doctor about Primary Immunodeficiency.

1. Four or more new ear infections within 1 year. 2. Two or more serious sinus infections within 1 year. 3. Two or more months on antibiotics with little effect. 4. Two or more pneumonias within 1 year. 5. Failure of an infant to gain weight or grow normally. 6. Recurrent, deep skin or organ abscesses. 7. Persistent thrush in mouth or fungal infection on skin. 8. Need for intravenous antibiotics to clear infections. 9. Two or more deep-seated infections including septicemia. 10. A family history of Primary Immunodeficiency.

These warning signs were developed by The Jeffrey Modell Foundation Medical Advisory Board. © 2006 The Jeffrey Modell Foundation.

10 Warning Signs
of Primary Immunodeficiency for Adults

If you suffer repeated and difficult to cure infections, there may be a broken immune system function—a Primary Immunodeficiency (PI)—as the underlying cause. PI allows illnesses to recur, which can lead to organ damage, physical disability and even death. It is estimated that 13,000 Canadians have PI. Reports show about 50% of cases go undiagnosed. If you have two or more of these signs, speak to your doctor about a possible Primary Immunodeficiency. Consultation with a Primary Immunodeficiency expert is strongly recommended.

1. Two or more new ear infections within 1 year. 2. Two or more new sinus infections within 1 year, in the absence of allergy. 3. One pneumonia per year for more than 1 year. 4. Chronic diarrhea with weight loss. 5. Recurrent viral infections (colds, herpes, warts, condyloma). 6. Recurrent need for intravenous antibiotics to clear infections. 7. Recurrent, deep abscesses of the skin or internal organs. 8. Persistent thrush or fungal infection on skin or elsewhere. 9. Infection with normally harmless tuberculosis-like bacteria. 10. A family history of Primary Immunodeficiency.

These warning signs were developed by the Jeffrey Modell Foundation Medical Advisory Board © 2009Jeffrey Modell Foundation

back top

What are the symptoms?

Although symptoms vary somewhat from individual to individual and disorder to disorder, there are some that are common to many disorders. The recurring theme is that PI patients have more infections than they or their doctor consider appropriate. This increased susceptibility to infection can result in too many recurrent infections, such as ear infections (otitis media), pneumonia, bronchitis, sinusitis or skin infections.

Not every patient with PI, however, experiences recurrent infections. In some patients, the first infection is serious enough to suspect the possibility of a Primary Immunodeficiency. There are also certain infections caused by germs that only affect PI patients. Therefore, the type of infection itself may serve as a red flag. Less commonly, PI patients may have abscesses in their internal organs, such as the liver, or infections of the blood.

Patients may also experience a variety of autoimmune problems. In some cases, the autoimmune disorder may take the form of systemic lupus erythematosis or rheumatoid arthritis, involving many organs and tissues. Conversely, the autoimmune disorder may only affect one organ and take the form of an isolated arthritis, kidney disease, thyroid disease or low platelet count in the blood (anemia).

Gastrointestinal (digestive) problems can also be a symptom of Primary Immunodeficiencys. Patients may have loss of appetite and chronic diarrhea. These gastrointestinal problems can be the result of an infection of the intestines, or a reflection of an autoimmune disorder.

back top

How is Primary Immunodeficiency diagnosed?

Correct diagnosis begins with the awareness of the 10 warning signs. Once the condition is suspected, doctors can order blood and screening tests to evaluate the functioning of the infection-fighting cells of the immune system. Because Primary Immunodeficiency are genetic in nature, blood-relations of patients are often examined. Tests should be ordered as soon as a PI 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.

back top

How can Primary Immunodeficiency be treated?

Once a diagnosis is established, much can be done for PI patients. Infections can be treated with antibiotics, anti-viral and antifungal medications. Some of the recurring infections can be prevented with low or moderate doses of antibiotics, which can help prevent permanent organ damage.

Another therapy is to supply the gammaglobulin (antibodies) that the body cannot make on its own. Such immunoglobulin therapy is now accepted for Primary Immunodeficiency that affected immunoglobulin production. Other newer therapies include advanced treatments such as interleukins and gamma interferon. In extreme cases, bone marrow transplants may be appropriate.

back top

Is it possible to outgrow a Primary Immunodeficiency?

Primary Immunodeficiency affects one or more parts of the immune system. These parts include the neutrophils, complement system, cellular (T-cell driven) and humoral (B-cell driven) components. Patients who have neutrophil, complement and T-cell disorders rarely outgrow their immune deficiency. Some patients who have T-cell disorder like DiGeorge Syndrome may increase their T-cell numbers as they get older. This is often associated with improving T-cell function.

The only immune deficiency that seems to resolve with age is transient hypogammaglobulinemia. These patients develop symptoms at approximately six months of age when the maternal antibodies are diminishing in the infant’s circulation. Some infants become unable to maintain their immunoglobulins completely on their own and infections may occur. Usually, serum immunoglobulins ultimately reach normal levels by four to six years of age.

back top

If Primary Immunodeficiency is genetic or congenital, why are some defects diagnosed in adults?

It is possible that these defects have been present all along, but not diagnosed due to compensating immune functions that keep serious problems from developing earlier. Another possibility is a slowly deteriorating immune function, that is genetically determined and does not become significant until later in life.

back top

What is it like to live with Primary Immunodeficiency?

There has never been more hope for people who are immune deficient. All the same, families struggling with any Primary Immunodeficiency face a number of difficulties; for instance, the patient may have long periods of normal health, and then suddenly be struck by high fevers, pneumonia, or any of the other problems already noted. 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 about PI can make the family feel isolated in its attempts to cope. Until recently, public sources of information have been scarce, even for doctors. Many patients and parents find they cannot get teachers, school principals or employers to understand the nature of the medical problem at hand.

The problems presented by Primary Immunodeficiency have challenged researchers and immunologists to improve diagnosis and treatments, and to discover new therapies. Promising results in this area of immunology are also yielding benefits for people who have cancer, AIDS, autoimmunity, cystic fibrosis, and a wide range of pulmonary and allergic conditions.

back top

Most Common Forms of Primary Immunodeficiency

To learn more about the most common forms of Primary Immunodeficiency, please visit the Primary Immunodeficiency Resource Centre, www.info4pi.org , which is presented by the Jeffrey Modell Foundation, as a central resource on Primary Immunodeficiency (PI).

back top