Primary immunodeficiency

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Symptoms

By Mayo Clinic staff

One of the most common signs of primary immunodeficiency is an increased susceptibility to infections. You may have infections that are more frequent, longer lasting or harder to treat than are the infections of someone with a normal immune system. You may also get infections that a person with a healthy immune system likely wouldn't get (called opportunistic infections). There are more than 70 types of primary immunodeficiency disorders, and signs and symptoms differ depending on the particular type of disorder you have. Signs and symptoms also vary from person to person.

Signs and symptoms of primary immunodeficiency can include:

  • Frequent and recurrent ear infections, pneumonia, meningitis, bronchitis, sinus infections or skin infections
  • Blood infections

In addition to frequent infections, other problems that may occur include:

  • Inflammation and infection of internal organs, such as the liver
  • Autoimmune disorders, such as lupus, rheumatoid arthritis or type 1 diabetes
  • Blood disorders, such as low platelet counts or anemia
  • Digestive problems, such as cramping, loss of appetite, nausea and diarrhea
  • Delayed growth and development

When to see a doctor
If you or your child has frequent, recurrent or severe infections, or infections that don't respond to usual treatments, talk to your doctor. While primary immune deficiencies are rare, early diagnosis and treatment can prevent infections that can cause long-term problems.

References
  1. Primary immunodeficiency. Eunice Kennedy Shriver National Institute of Child Health and Human Development. http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm. Accessed June 12, 2011.
  2. Specific medical therapy. In: Blaese R, et al. IDF Patient and Family Handbook for Primary Immunodeficiency Diseases. 4th ed. Towson, Md.: Immune Deficiency Foundation; 2007. http://www.primaryimmune.org/publications/book_pats/patient_and_family_handbook_4th.pdf. Accessed June 12, 2011.
  3. Primary immunodeficiency diseases. American Academy of Allergy, Asthma and Immunology. http://www.aaaai.org/patients/topicofthemonth/0407/. Accessed June 12, 2011.
  4. Immunodeficiency disorders. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/print/sec13/ch164/ch164a.html. Accessed June 12, 2011.
  5. Fischer A, et al. Gene therapy for primary adaptive immune deficiencies. Journal of Allergy and Clinical Immunology. 2011;127:1356.
DS01006 July 28, 2011

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