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Immune Deficiency Disorders: Diagnosis

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This information was reviewed and approved by Jessica Galant-Swafford, MD (2/1/2022).

The first step in diagnosing an immune deficiency is a good evaluation. An immune system specialist (immunologist) can help with diagnosis and treatment.

Evaluation of the immune system may include:

  • Detailed medical history, including detailed family medical history

  • Physical exam

  • Blood tests

  • Vaccines to test the immune response

  • Genetic testing

At the time of the evaluation, your doctor will ask questions about your health. Frequent or unusual infections, prolonged diarrhea, and poor childhood growth are some symptoms of a possible immune deficiency. Symptoms of immune dysregulation and autoimmunity also fall into this category: autoimmune blood count abnormalities (thrombocytopenia, anemia, neutropenia), inflammatory bowel disease, interstitial lung disease and cancer.
Because some immune deficiencies run in families, you will be asked questions about your family’s health. You also will have a complete physical examination.

If your doctor suspects an immune deficiency, a series of blood tests and vaccines may be done.

Blood tests will show if any part of your immune system is missing or not working properly. For example, blood tests will reveal if there are any cells lacking from a complete immune system or if the cells are present but are not functioning appropriately.

Vaccines may be given to test your immune system’s response. In the normal immune system, antibodies fighting against the organism in the vaccine are formed in the blood. If antibodies to the vaccine are not found a few weeks after the vaccine is given, you may have an immune deficiency.

Your doctor may order additional tests to confirm the diagnosis.

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