Definition and Overview

Immunodeficiency is a term used in the field of medicine, which means that a person either doesn’t have an immune system or it is severely compromised that it cannot effectively fight off threats. A person with this condition must consult an immunologist, a doctor who specialises in diseases and conditions that affect the immune system.

The consultation serves different purposes:

  • To diagnose a disease
  • Plan the treatment
  • Manage the condition
  • Detect possible causes of the condition
  • Determine the patient’s outlook or prognosis
    During the consultation, it is expected that the doctor can confirm whether the symptoms are related to immunodeficiency or other underlying conditions.

Who Should Undergo and Expected Results

An immunodeficiency consultation is often recommended when a patient exhibits the following symptoms:

  • Recurrent infections
  • Low white blood count
  • Digestive problems including abdominal pain, diarrhea, and appetite loss
  • Anemia
  • Delayed development of the child
  • Swelling of the internal organs
  • Chronic inflammation
    Although these symptoms can be attributed to other diseases or conditions, they are the hallmark signs of an immunodeficiency disorder. This is especially true for recurrent infections that are not linked to other possible underlying cause.

Some of the possible causes of immunodeficiency disorders include the following:

  • Trauma to the spleen – The spleen is an internal organ that helps create white blood cells, which produce antibodies to fight off infection. Trauma to the spleen drives down the body’s defense system.

  • Autoimmune disorder – An autoimmune disease is the progressive destruction of the body’s organs and tissues as the immune system attacks them.

  • Genetics – Primary immunodeficiency disorders, such as common variable immunodeficiency disorder (CVID), are genetically acquired. Thus, those who have immediate family members or relatives diagnosed with disorders affecting the immune system are more likely to require immunodeficiency consultation.

  • Environment – Environment plays a huge role in the development of secondary immunodeficiency disorders, in which exposure to chemicals and dangerous viruses impairs the body’s defense. These include acquired immune deficiency syndrome (AIDS) and exposure to radiation.

How Does the Procedure Work?

An immunodeficiency consultation can be either physician-to-physician or patient-to-physician. In the first scenario, the patient’s primary doctor reaches out to an immunologist when all possible treatments have been exhausted but the condition remained unresponsive or have worsened or new symptoms develop or keep on coming back.

In the second scenario, the primary doctor refers the patient to a specialist if immunodeficiency is suspected. During the consultation, the immunologist is expected to:

  • Review the patient’s medical records
  • Interview the patient about the symptoms he is experiencing such as how often they appear or if they have progressed
  • Determine the kinds of treatments performed on the patient
  • Conducts a physical exam
    To ascertain that the condition is related or caused by problems of the immune system, blood and vaccine tests will be performed. The blood test is used to obtain white blood count, particularly T cell. The vaccine test, on the other hand, determines if the body produces antibodies. The lack of antibodies means that the patient has an immunodeficiency condition.

Once the diagnosis is confirmed, the succeeding consultations will focus on the treatment, which may include medications, transfusions, and injections. Follow-up will also be discussed during these consultations.

Each consultation may take at least an hour, especially if test results have to be discussed. Although face-to-face appointments are ideal, future general consultations can also be done online such as via Skype or telephone.

Possible Risks and Complications

The process may take days or weeks before it can confirm an immunodeficiency. By then, the condition may have already worsened. Also, there are cases wherein the results are inconclusive, which subjects the patient to more tests and meetings with other specialists.


  • Ballow M. Primary immunodeficiency diseases. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 258.
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