Laboratory tests are needed to confirm the diagnosis of immunodeficiency and to identify the type of immunodeficiency disorder.
Skin tests may be done if the immunodeficiency is thought to be due to a T-cell abnormality. The skin test resembles the tuberculin skin test, which is used to screen for tuberculosis. Small amounts of proteins from common infectious organisms such as yeast are injected under the skin. If a reaction (redness, warmth, and swelling) occurs within 48 hours, the T cells are functioning normally. No reaction could suggest a T-cell abnormality. To confirm a T-cell abnormality, doctors do additional blood tests to determine the number of T cells and to evaluate T-cell function.
A biopsy may be done to help doctors identify which specific immunodeficiency disorder is causing the symptoms. For the biopsy, doctors take a sample of tissue from the lymph nodes and/or bone marrow. The sample is tested to determine whether certain immune cells are present.
Genetic testing may be done if doctors suspect a problem with the immune system. The gene mutation or mutations that cause many immunodeficiency disorders have been identified. Thus, genetic testing can sometimes help identify the specific immunodeficiency disorder. If a person has a genetic cause of immunodeficiency, some of their family members also may have the disorder or be carriers of the abnormal gene. Thus, doctors often recommend that close family members be evaluated, sometimes including genetic testing.
