Primary immunodeficiency disease definition and facts
- Primary immunodeficiency disease (PIDD)
is a disease of the immune system itself, in contrast to secondary
immunodeficiency with a weak immune system as a result of another condition,
- There are hundreds of different types
of primary immunodeficiency disease.
- Most types of primary immunodeficiency disease are due to inherited
(genetic) defects, so there is no known way to prevent primary immunodeficiency disease.
- Primary immunodeficiency disease is most often diagnosed in infants
and children, although the signs and symptoms may sometimes first appear in
later childhood or adulthood.
- Signs and symptoms of primary immunodeficiency disease include
severe or recurrent infections such as pneumonia, sinus infections, abscesses,
ear infections, or skin infections.
- Blood tests to measure immune cell
counts, antibodies, and other substances important for immune function are key
to making the diagnosis of primary immunodeficiency disease.
- Treatments for primary immunodeficiency disease include antibiotics
to fight infection and depending upon the cause of the primary immunodeficiency disease, immune-boosting
- Stem cell transplantation may be an
appropriate treatment for severe or life-threatening types of primary immunodeficiency disease.
What is primary immunodeficiency disease?
Primary immunodeficiency disease (PIDD) is a condition in which the immune
system is weaker than normal. The term “primary” implies that there is an
independent problem of the immune system rather than a weakening of the immune
system due to another condition like HIV/AIDS (a secondary immune deficiency).
Primary immunodeficiency disease is most often identified in infants and children, but it is possible that
the condition is identified in adulthood. Primary immunodeficiency disease represents a diverse group of
hundreds of diseases that can weaken the immune system.
Most often, primary immunodeficiency disease results
in increased susceptibility to both acute and chronic (long-term) infections.
What are the types and examples of primary immunodeficiency diseases?
Primary immunodeficiency disease is a group of multiple different diseases. In fact, the World Health
Organization (WHO) recognizes over 250 diseases that lead to primary
immunodeficiency. The conditions that are immune deficient can include problems
with antibody formation, problems with cell-mediated immune response, or innate
immune system disorders.
The types of primary immunodeficiency disease are far too numerous to list here. Examples of some of the
more commonly known primary immunodeficiency diseases include:
- Wiscott-Aldrich syndrome
- Severe combined immunodeficiency
- DiGeorge syndrome
- Chronic granulomatous disease
- Transient hypogammaglobulinemia of
- Complement deficiencies
- Selective IgA deficiency
What causes primary immunodeficiency disease and who gets primary
Most primary immunodeficiency diseases are inherited, meaning that there is a gene defect present at
birth that leads to the condition. As such, the condition usually is seen in
infants or children. Sometimes, however, the condition may not become apparent
until late childhood or even adulthood.
What Is Genetic Counseling?
Genetic counseling provides information and support for individuals, their
families, and caregivers about genetic disorders and diseases for which they may
be at risk such as:
- Fish odor syndrome
- Deep vein thrombosis (DVT)
- Atopic dermatitis
- Multiple sclerosis (MS)
- Hay fever
- Bipolar disorder
- Breast cancer
- Asperger syndrome
What are the symptoms and signs of primary immunodeficiency disease?
Many of the specific forms of primary immunodeficiency disease will have symptoms and signs specific to
that condition, but in general, PIDDs are characterized by frequent infections.
In particular, symptoms and signs suggestive of primary immunodeficiency disease can include:
- Frequent or hard-to-treat infections
Recurrent pneumonia, sinus infections,
or ear infections
- Weight loss or delayed growth
- Enlarged lymph nodes
- Enlarged spleen
- Recurrent deep abscesses in internal
- Recurrent skin abscesses
- Digestive problems, including nausea,
diarrhea, or abdominal cramping
- Abnormal blood counts
Is primary immunodeficiency disease inherited?
Most cases of PIDD are genetic, inherited diseases.
Which types of doctors treat primary immunodeficiency
Immunologists are scientists or doctors who specialize in diseases of the
immune system. Immunologist physicians may manage the treatment of patients with
primary immunodeficiency disease. Infectious disease specialists are also frequently involved in the care of
these patients. Depending on the exact cause of primary immunodeficiency disease, other specialists may be
consulted, including neurologists, hematologists, rheumatologists, internal
medicine specialists, cardiologists, pulmonologists, gastroenterologists, and
How is primary immunodeficiency disease diagnosed?
Any patient suspected of having a primary immunodeficiency disease will undergo a thorough medical
examination. Blood tests are typically done to make the diagnosis. Blood tests
are done to check for immune cell counts as well as levels of antibodies and
other substances necessary for a functioning immune system. DNA testing may be
done to identify a specific genetic defect.
In families with a known history of primary immunodeficiency disease,
prenatal testing may be done to
detect genetic problems in the developing fetus.
What is the treatment for primary immunodeficiency disease?
To treat recurrent infections antibiotics, antiviral medications, and
antifungal drugs may be used. These medications may be stronger than those used
to treat infections in people with a normally functioning immune system and may
need to be administered intravenously (IV). Sometimes, long-term antibiotics are
given to prevent the development of infections.
To boost the immune system: The treatment for primary immunodeficiency disease depends upon the specific
defect that is causing the immune system to malfunction. Examples of immune
system treatments include:
- Intravenous or subcutaneous
immunoglobulins to provide antibodies to fight infection
- Growth factor therapy if immune
function deficiency is due to lack of certain immune cells
Gamma interferon therapy involves
administering a synthetic interferon (a substance that strengthens the immune
system). This treatment is used for patients with chronic granulomatous disease.
Stem cell transplantation can be used to replace the defective immune system
in patients with severe or life-threatening types of primary immunodeficiency disease. This requires a stem
cell donor that is a biologic match to the patient. Typically, the patient’s
immune system is destroyed via chemotherapy and/or radiation therapy, and the
normal stem cells are transferred to the patient. Stem cell transplantation has
a number of risks and is not always successful, but it can offer some patients
with primary immunodeficiency disease a permanent cure.
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How can I help care for my child with primary immunodeficiency disease?
You can help your child with primary immunodeficiency disease by learning as much about the condition as
possible, and helping your child through any challenges he or she may face. Many
patients and families find it helpful to talk to another affected family or
participate in a support group (support groups).
You also can help your child take steps to avoid as many infections as
- good hygiene practices,
- avoiding exposure to
- ensuring that he or she receives all
adolescent, and adult vaccinations.
Can primary immunodeficiency disease be prevented?
Because most cases of primary immunodeficiency disease result from an inherited gene defect, there is no
way to prevent their occurrence.
What the prognosis for a child with primary immunodeficiency disease?
Because primary immunodeficiency disease represents a group of hundreds of different diseases, it is not
possible to assign a prognosis to this group of conditions in general. Many
children and adults with primary immunodeficiency disease can attend school or work and maintain productive
What support groups are available for primary immunodeficiency disease?
The Immune Deficiency Foundation
offers a number of support and educational resources, including peer support
programs. Your treatment center or care team may also have information about specific
support programs in your area.