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Primary Immunodeficiency

Primary immunodeficiency refers to a group of disorders characterized by genetic or heritable immune defects resulting in an impaired ability to fight infection.

Defects in any one of the three arms of the immune system (innate, cellular, humoral) can result in a primary immunodeficiency.

According to the World Health Organization, immune defects are responsible for at least 150 different primary immunodeficiency disorders.

Symptoms of primary immunodeficiency broadly include infections of the skin, ears, sinuses, lungs, brain and spinal cord, digestive tract, and urinary tract.  These infections can be severe, recurrent, and/or difficult to treat.  Some patients with primary immunodeficiency may also develop autoimmune conditions or cancer.  Left untreated, primary immunodeficiencies may be debilitating.

Ten warning signs of primary immunodeficiency, as defined by the Jeffrey Modell Foundation Medical Advisory Board, include:

  • Four or more new ear infections within 1 year
  • Two or more serious sinus infections within 1 year
  • Two or more months on antibiotics with little effect
  • Two or more pneumonias within 1 year
  • Failure of an infant to gain weight or grow normally
  • Recurrent, deep skin or organ abscesses
  • Persistent thrush in mouth or fungal infection on skin
  • Need for intravenous antibiotics to clear infection
  • Two or more deep-seated infections including sepsis
  • A family history of primary immunodeficiency

Allergists-Immunologists are the experts in primary immunodeficiency and diagnose these disorders by history, exam and tests.

The goals in the treatment of primary immunodeficiency are to prevent infection and its complications.

Treatment options are varied and depend on the particular type of immunodeficiency.

By visiting an Allergist-Immunologist, you too can take control of your primary immunodeficiency and improve your quality of life.

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