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
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.
Medically Reviewed by a Doctor on 8/1/2016