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Immune Deficiency Disorders (Pediatric)

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What are immune deficiency disorders?

Immune deficiency (or immunodeficiency) is the term used to describe conditions in which the immune system does not function normally and loses part or all of its ability to fight certain kinds of infections. In some cases, patients who have an immune deficiency disorder have an increased risk of developing cancers of the blood and immune system such as leukemia and lymphoma. Infants with a primary immunodeficiency are born with the disease and it is referred to as congenital or hereditary; however, most cases of immune deficiencies are acquired or “secondary,” and develop after an infection or exposure to a chemical or toxin. Patients with an immunodeficiency disorder are usually quite ill.

What are the causes and types of primary immune deficiency disorders?

There are more than 80 recognized primary immunodeficiency conditions. Examples are:

  • Humoral immune deficiency, such as hypogammaglobulinemia, the failure to manufacture antibodies.
  • Cell-mediated immune deficiency, such as a T-cell immune deficiency, when there are defects in  T-cell function, or a decrease in T-cell number (i.e., DiGeorge Syndrome, Ataxia Telangiectasia, and Wiskott Aldrich Syndrome).
  • Granulocyte or white blood cell disorders, including decreased or absent granulocytes, or decreased function of individual granulocytes such as Chronic Granulomatous Disease.
  • Asplenia or absence of the spleen.
  • Complement disorders, when there is decreased or dysfunctional proteins in the blood that typically help white blood cells fight infections.

What are the causes and types of secondary immune deficiency disorders?

Secondary immunodeficiencies or acquired immunodeficiencies may the result from: 

  • Medications such as immunosuppressive drugs and glucocorticoids
  • Chemotherapy  
  • Environmental toxins
  • Malnutrition
  • Aging 
  • Infections
  • AIDS

How are immune deficiency disorders diagnosed?

Initial tests include:

  • Complete blood count
  • Serum Immunoglobulin
  • Antibody titers
  • Skin testing 
  • Bone marrow aspirate and biopsy
  • Lymph node biopsy
  • Genetic testing

What is the treatment for immune deficiency disorders?

Treatment of immune deficiency​ disorders includes:

  • Management of infection: antibiotics and supportive care
  • Immunoglobulin infusions
  • Granulocyte colony stimulating factor to increase the white blood cell count in the stem cell system