Primary Immunodeficiency Disease (PIDD)

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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
  • Anemia
  • Diabetes
  • Deep vein thrombosis (DVT)
  • Atopic dermatitis
  • Multiple sclerosis (MS)
  • Depression
  • 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, like HIV/AIDS.
  • 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 therapies.
  • 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 disease (SCID)
  • DiGeorge syndrome
  • Ataxia-telangectasia
  • Chronic granulomatous disease
  • Transient hypogammaglobulinemia of infancy
  • Agammaglobulinemia
  • Complement deficiencies
  • Selective IgA deficiency

What causes primary immunodeficiency disease and who gets primary immunodeficiency disease?

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

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