Immunodeficiency

What is immunodeficiency?

Immunodeficiency is the medical condition whereby a person’s immune system is not able to function properly or does not function at all. Improper functioning of the immune system can lead to the development of autoimmune and allergic diseases or malignancies. Immunodeficiencies are divided into primitive (if they result from congenital defects) or secondary (if they result from infections or drug treatments). This condition involves the appearance of infections that develop and recur very often, manifesting themselves in a more severe and longer-lasting form.

Prognosis of the disease

When treated early and properly, most forms of primary immunodeficiency have a positive prognosis. Early and consistent treatment ensures a normal lifestyle. In the case of secondary immunodeficiencies, the prognosis depends on the severity of the triggering cause.

Symptoms of immunodeficiency

A person may suspect immunodeficiency if he or she repeatedly suffers from severe infections with low efficacy of the pharmaceutical treatments to which he or she is subjected, and without complete cure between infections. By symptoms of immunodeficiency, we refer to symptoms of infectious diseases (pneumonia, colds, flu, sinusitis, etc.) that can originate from low levels, or complete absence, of immune defenses.

Frequent severe infections may be a symptom.

Diagnosis of immunodeficiency

The diagnosis of immunodeficiency consists of a precise diagnostic process:

  • Objective examination
  • Anamnesis
  • Test to evaluate the levels of white blood cells.
  • Test to evaluate T-lymphocyte levels.
  • Test to evaluate immunoglobulin levels.
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If at the end of the diagnostic process there are still doubts, the patient can undergo the antibody test, which consists of a vaccine to see how the body reacts, whether it produces antibodies or not.

What are the causes of immunodeficiency?

  • Primary immunodeficiency: may be caused by mutations of a particular gene during embryogenesis or uterine development;
  • Secondary immunodeficiency: can be caused by a severe state of malnutrition, strong drug therapies, tumors (leukemia, lymphoma, multiple myeloma), HIV, viral hepatitis or absence of spleen (asplenia).

Is it preventable?

Primary immunodeficiency cannot be prevented because it is caused by genetic abnormalities during embryogenesis or uterine development. Secondary immunodeficiency can be prevented only if the causes that lead to it can also be prevented.

Treatments for immunodeficiency

In cases of primary immunodeficiency, as the triggering cause is itself incurable, the affected person is forced to live with a weak immune system. However, there are treatments that make it possible to compensate for these immune deficiencies:

  • If the amount of antibodies is insufficient or not functioning properly, it is possible to supply immunoglobulins;
  • If the disease is already at an advanced and severe stage, stem cell transplantation can be used.

In cases of secondary immunodeficiency, treatment varies according to the triggering cause.

Which specialist should be consulted?

In case of immunodeficiency, it is advisable to contact an expert in oncology, allergology, immunology or hematology.