Congenital immunodeficiencies - causes, symptoms, treatment

Currently, more than 280 different diseases from the group of congenital immunodeficiencies are known and described. In addition to congenital immunodeficiencies (primary immunodeficiencies, PID), which are genetically determined, there are also secondary immunodeficiencies (acquired immunodeficiencies, VID, secondary immunodeficiencies) that are not associated with defects and mutations in DNA. Acquired immunodeficiencies are temporary disorders in the functioning of the immune system, which are associated with the impact on the body of external factors and the course of certain diseases.

What are immunodeficiencies?

Frequent acute upper and lower respiratory tract infections, recurrent bacterial infections, lack of response to antibiotics, recurrent digestive ailments, and recurrent skin and mucosal mycoses may indicate the presence of primary immunodeficiencies and secondary immunodeficiencies. Congenital immunodeficiencies and secondary immunodeficiencies are a large group of diseases and disorders in the functioning of the immune system, causing incl. decreased ability to defend against invading microbes. A properly functioning immune system not only protects us from infections, but also stores information about pathogens by producing antibodies. In some cases, they help to avoid re-infection - this is the case, for example, with many childhood infectious diseases.

Congenital immunodeficiencies may initially cause symptoms that are characteristic of, for example, allergies. Undiagnosed and untreated, they cause a decrease in the body’s ability to defend itself against various microorganisms and increase the body’s susceptibility to, for example, cancer and autoimmune diseases, even leading to a malfunction of the immune system.

Primary immunodeficiencies are genetic disorders of the immune system. They are caused by mutations and defects in human DNA that occur at the stage of intrauterine development. Primary immunodeficiencies are diagnosed in 1/2000–1/3000 live births. They are characterized by different flow. Severe primary immunodeficiencies can lead to death in infancy. Mild immunodeficiencies are not life-threatening and are fairly common in adults.

The most common primary immunodeficiency is selective IgA deficiency. This congenital immunodeficiency belongs to the group of hypogammaglobulinemias. A characteristic feature of selective IgA deficiency is the absence of IgA antibodies in the blood serum with normal levels of IgG and IgM antibodies.

Unlike secondary immunodeficiencies, congenital immunodeficiencies do not disappear. Primary immunodeficiency states require specialized treatment and lifestyle changes to reduce the risk associated with exposure to harmful microorganisms.

In the case of secondary immunodeficiencies, we are not dealing with a genetic defect or mutation that makes them disorders, which usually resolve as a result of the elimination of the external factors that cause them or the cure of diseases associated with a deficiency in the immune system. .

The course of various diseases and secondary immunodeficiencies

Secondary immunodeficiencies can occur, in particular, when:

• some viral infections, such as HIV infection,

• pregnant,

• metabolic disease,

• cancerous diseases.

Secondary immune disorders are also associated with immunotherapy and other medications. They are also caused by malnutrition, overwork, chronic stress. It is worth knowing that the human immune system may cease to function normally as a result, for example, of extensive injuries and burns.

Congenital immunodeficiencies - symptoms

It is quite difficult to make a correct diagnosis in congenital immunodeficiencies and secondary immunodeficiencies. Their clinical picture is similar - both primary and secondary immunodeficiencies cause:

• difficult-to-treat, recurrent infections of the lower and upper respiratory tract,

• digestive system infections

• skin infections, including recurrent deep skin abscesses

• joint diseases,

• connective tissue infections.

Mild infections in autumn and winter are not indicative of primary immunodeficiency. You need to know that young children, whose immune system is still developing, can get sick at least a dozen times a year - if the infections do not require the use of antibiotics and quickly subside, then there is no reason for concern. The immune system reaches full maturity by the age of 12.

Symptoms that may indicate congenital immunodeficiency in children include::

• 4 or more infections per year requiring antibiotic treatment

• 2 or more severe infections - these include, for example, pneumonia, sepsis, meningitis,

• antibiotic therapy lasting more than 2 months, which does not improve well-being,

• chronic mycosis of the skin or mucous membranes of the mouth,

• recurrent deep skin abscesses,

• recurrent organ abscesses,

• inhibition of growth and development of the child,

• no weight gain.

Symptoms of congenital immunodeficiency in adults include::

• recurrent infections of the upper and lower respiratory tract,

• chronic sinusitis,

• recurrent fungal infections of the skin, oral cavity and intimate area,

• weakness of the body and lack of response to the applied symptomatic treatment,

• “descent” of upper respiratory tract infections into the bronchi and lungs, such as pneumonia after a cold,

• disorders in the digestive tract, during which diarrhea occurs.

The above symptoms are an indication for a general blood test with a smear, which allows you to check if the number of leukocytes is normal. If abnormalities are detected that may indicate congenital immunodeficiency, it is necessary to contact an immunologist or hematologist. At the stage of diagnosing the causes of a decrease in immunity, other studies are also carried out, for example, a bone marrow biopsy.

How to treat congenital disorders of the immune system?

Congenital disorders of the immune system require specialized treatment. Primary immunodeficiency requires treatment aimed at improving the functioning of the immune system, as well as reducing the symptoms caused by the lack of immunity in diseases.

Treatment depends on the type of disease and may include both the introduction of immunoglobulins that are absent in the body, and, for example, bone marrow transplantation.