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Primary Immunodeficiency Diseases

Primary immunodeficiency diseases occur in people who are born without an immune system or have a system that does not function properly. They are caused by hereditary and genetic defects that can affect males and females of all races and ages, according to the Immune Deficiency Foundation. Since one of the primary functions of an immune system is to protect against infection, those with primary immunodeficiency diseases are more susceptible to infection. Not only are their infections often hard to treat, patients may suffer recurring health problems and may develop serious and debilitating illnesses.

Top 10 Warning Signs of Primary Immunodeficiency, Courtesy of the Jeffrey Modell Foundation and the American Red Cross


  1. Eight or more new ear infections within a year
  2. Two or more serious sinus infections within a year
  3. Two or more months on antibiotics with little effect
  4. Two or more pneumonias within a year
  5. Failure of an infant to gain weight or grow normally
  6. Recurrent deep abscesses in the skin or organs
  7. Persistent thrush in mouth or on skin, after age one
  8. Need for intravenous antibiotics to clear infections
  9. Two or more deep-seated infections, such as meningitis, osteomyelitis, cellulitis, or sepsis
  10. A family history of primary immunodeficiency

The World Health Organization recognizes over 150 primary immunodeficiency diseases. Between 25,000-50,000 people in the U.S. have a primary immunodeficiency disorder, reports the Mayo Clinic. Primary immunodeficiency diseases are not contagious.

 

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What Moms Can Do about Primary Immunodeficiency Diseases

Moms who notice that their child (or they themselves) has frequent, recurring, severe infections or infections that do not respond to treatment should talk to their doctors, advises the Mayo Clinic. Early diagnosis is key to preventing infections that could lead to long-term issues.

If diagnosed with primary immunodeficiency, treatment will likely involve preventing and treating infections, boosting the immune system, and treating the underlying cause of the immune problem, according to the Mayo Clinic. Sometimes primary immune disorders are linked to an illness such as an autoimmune disorder or cancer that will also need treatment. See the Mayo Clinic's website for more information on treatments.

Antibiotics are used to treat infections, but when antibiotics are not working, hospitalization may be required. Medications such as ibuprofen for pain and fevers may also be needed to treat symptoms of infection.

Treatment to boost the immune system includes:

  • Immunoglobulin therapy (also called gamma globulin therapy): This treatment is important for people who have an antibody deficiency. Immunoglobulin consists of antibody proteins needed for the immune system to fight infections. It can be injected into a vein through an IV line or inserted underneath the skin. Treatment is needed every few weeks to maintain sufficient levels of immunoglobulins. Subcutaneous infusion is needed once or twice a week.
  • Gamma interferon therapy: Gamma interferon is a man-made (synthetic) substance given as an injection in the thigh or arm three times a week and is used to treat chronic granulomatous disease.
  • Treatment with adenosine deaminase (ADA): Severe combined immunodeficiency (SCID) is a rare primary immune disorder that causes a deficiency of the immune system enzyme ADA. The medication (PEG-ADA) will not cure SCID, but regular injections can improve immune system function.

Bone marrow transplantation permanently cures several forms of immunodeficiency. The donor is usually a close family member, because the donor must have body tissues that are a close biological match to the patient. But transplants don't always work.

There is hope that gene therapy -- replacing defective genes with genes that work correctly using a harmless virus that carries the genes into the body's cells -- will eventually cure primary immune disorders. The new genes start the production of healthy immune system enzymes and proteins. Experts now know many of the genes that cause primary immune deficiencies, but gene therapy is still experimental.

In order to prevent infections, the Mayo Clinic suggests that those with weakened immune systems take the following precautions: eat a healthy diet, practice good hygiene, avoid exposure to infections, take antibiotics, and talk to your doctor about vaccinations that you might need.


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