Immunodeficiencies are primary. Primary immunodeficiencies: treatment

Immunodeficiency is a violation of the protective functions of the human body, due to the weakening of the immune response to pathogens of different nature. A whole series of states of this kind is described by science. This group of diseases is characterized by an increase and a weighting of the course of infectious diseases. Failures in the work of immunity in this case are associated with a change in the quantitative or qualitative characteristics of its individual constituents.

Properties of immunity

The immune system plays a crucial role in the normal functioning of the body, as it is designed to detect and destroy antigens that can both penetrate from the environment (infectious) and be the result of tumor growth of their own cells (endogenous). Protective function is primarily provided by congenital factors, such as phagocytosis and the complement system. For the adaptive response of the organism, the acquired immunity is responsible : humoral and cellular. The connection of the whole system takes place through special substances - cytokines.

Depending on the cause, immunodeficiency disorders are divided into immunodeficiency primary and secondary.

What is primary immunodeficiency

Primary immunodeficiencies (FID) are violations of the immune response caused by genetic defects. In most cases, they are inherited and are congenital pathologies. PID is most often found at an early age, but sometimes they are not diagnosed before adolescence or even adulthood.

PID - a group of congenital diseases, diverse in clinical manifestations. The international classification of diseases includes 36 described and sufficiently studied primary immunodeficiency states, but according to the medical literature there are about 80. The fact is that not all diseases have been identified responsible genes.

Only for the gene composition of the X chromosome are characterized by at least six different immunodeficiencies, and therefore the incidence of such diseases in boys is an order of magnitude higher than that of girls. There is a suggestion that intrauterine infection may have a causative effect on the development of congenital immunodeficiency, but this statement has not yet scientific confirmation.

Clinical picture

The clinical manifestations of primary immunodeficiencies are as diverse as the conditions themselves, but there is one common symptom - hypertrophic infectious (bacterial) syndrome.

Primary immunodeficiencies, as well as secondary ones, are manifested by patients' propensity to frequent recurrent (recurrent) diseases of infectious etiology, which can be caused by atypical pathogens.

These diseases are most often affected by the bronchopulmonary system and human ENT organs. Mucous membranes and skin are also often affected, which can be manifested by abscesses and sepsis. Bacterial pathogens cause bronchitis and sinusitis. People with immunodeficiency often experience early baldness and eczema, and sometimes allergic reactions. Often also autoimmune disorders and a tendency to malignant neoplasms. Immunodeficiency in children almost always causes a delay in mental and physical development.

The mechanism of development of primary immunodeficiencies

Classification of diseases by the mechanism of their development is the most informative in the case of studying immunodeficiency states. Physicians divide all diseases of the immune nature into 4 main groups:

- Humoral or B-cell, which include Bruton's syndrome (agammaglobulinemia coupled to the X-chromosome), IgA or IgG deficiency, IgM excess in general immunoglobulin deficiency, simple variable immunodeficiency, transient hypogammaglobulinemia of newborns and a number of other diseases associated with humoral immunity .

- T-cell primary immunodeficiencies, which are often called combined immunodeficiencies, since humoral immunity, such as hypoplasia (Di George's syndrome) or dysplasia (T-lymphopenia) of the thymus, is always disrupted in the first disorders.

Immunodeficiencies caused by defects in phagocytosis.

- Immunodeficiencies due to impaired functioning of the complement system.

Exposure to infections

Since the cause of immunodeficiency can be a violation of various links
Immune system, then the susceptibility of pathogens to infections will not be the same for each specific case. So, for example, with humoral diseases the patient is inclined to infections, which are caused by streptococci, staphylococci, hemophilic rod. At the same time these microorganisms often show resistance to antibacterial drugs. In combined forms of immunodeficiency, viruses such as herpes or fungi, which are mainly represented by candidiasis, can be attached to bacteria. The phagocytic form is characterized mainly by the same staphylococci and gram-negative bacteria.

Prevalence of primary immunodeficiencies

Immunodeficiencies, inherited, are rather rare human diseases. The frequency of occurrence of immunity disorders of this kind should be assessed relative to each specific disease, since their prevalence is not the same.

On average, only one newborn out of fifty thousand will suffer congenital hereditary immunodeficiency. The most common disease of this group is selective deficiency of IgA. Congenital immunodeficiency of this type occurs on average in one of thousands of newborns. Moreover, 70% of all cases of IgA deficiency relate to complete failure of this component. At the same time, some of the more rare human diseases of an immune nature that are inherited can be distributed in a ratio of 1: 1,000,000.

If we consider the frequency of occurrence of PID diseases depending on the mechanism, then a very interesting picture is formed. B-cell primary immunodeficiencies, or, as they are still called, abnormalities of antibody formation, are found more often than others and account for 50-60% of all cases. At the same time, T-cell and phagocytic forms are diagnosed in 10-30% of patients each. The most rare are diseases of the immune system caused by defects of complement - 1-6%.

It should also be noted that the data on the frequency of occurrence of PID are very different in different countries, which may be related to the genetic predisposition of a particular national group to certain DNA mutations.

Diagnosis of immunodeficiencies

Primary immunodeficiency in children is most often determined untimely, in connection with
So that to put such a diagnosis at the level of the district pediatrician is quite difficult.

This, as a rule, leads to a belated start of treatment and an unfavorable prognosis of therapy. If, on the basis of the clinical picture of the disease and the results of the general analyzes, the doctor has assumed an immunodeficiency state, the first thing he should do is to send the child to a consultation with an immunologist.
In Europe, there is the Association of Immunologists, which deals with the study and development of methods for the treatment of such diseases, called ESI (European Society for Immunodeficiency). They created and constantly updated the database of PID diseases and approved a diagnostic algorithm for a fairly rapid diagnosis.

They begin diagnostics from the collection of an anamnesis of the disease. Particular attention should be paid to the genealogical aspect, since most congenital immunodeficiencies are hereditary. After a physical examination and obtaining of general clinical data, a preliminary diagnosis is made. In the future, in order to confirm or refute the doctor's assumption, the patient must undergo a thorough examination from specialists such as a geneticist and an immunologist. Only after carrying out all the above manipulations can we talk about the formulation of a final diagnosis.

Laboratory research

If during the diagnosis there is a suspicion of a syndrome of primary immunodeficiency, it is necessary to conduct the following laboratory tests:

- Establishment of an expanded blood formula (special attention is paid to the number of lymphocytes);

- determination of the content of immunoglobulins in blood serum;

- quantitative counting of B- and T-lymphocytes.

Additional research

In addition to laboratory-diagnostic tests, which are already mentioned above, individual individual tests will be assigned in each specific case. There are risk groups who need to take tests for HIV infection or for genetic abnormalities. Also, the doctor provides the possibility that there is a human immunodeficiency of 3 or 4 species, which will insist on a detailed study of phagocytosis of the patient by setting a test with a tetrazolin blue indicator and checking the component composition of the complement system.

Treatment of PID

Obviously, the necessary therapy will depend first of all on the immune system itself, but, unfortunately, the congenital form can not be eliminated completely, which can not be said about acquired immunodeficiency. Based on modern medical developments, scientists are trying to find an opportunity to eliminate the cause at the gene level. While their attempts have not been crowned with success, we can state that immunodeficiency is an incurable condition. Consider the principles of therapy.

Substitution therapy

Treatment of immunodeficiency usually reduces to substitution therapy. As already mentioned earlier, the patient's body is not able to independently produce certain components of the immune system, or their quality is much lower than necessary. Therapy in this case will consist in the medicamental reception of antibodies or immunoglobulins, whose natural products are disrupted. Most often, drugs are administered intravenously, but sometimes a subcutaneous route is also possible to facilitate the life of the patient, who in this case does not have to visit the medical facility once more.

The principle of substitution often allows patients to lead a practically normal way of life: to study, work and relax. Of course, the immunity weakened by the disease, humoral and cellular factors and the constant need for expensive drugs will not allow the patient to completely relax, but this is still better than life in the pressure chamber.

Symptomatic treatment and prevention

Considering the fact that any bacterial or viral infection that is insignificant for a healthy person for a patient with a primary immunodeficiency disease group can be lethal, prevention should be done competently. Antibacterial, antifungal and antiviral medicines come into play here. The key bet should be made specifically for preventive measures, because a weakened immunity may not allow to provide quality treatment.

In addition, it should be remembered that such patients are prone to allergic, autoimmune and, even worse, to tumor states. All this without full-fledged medical control may not allow a person to lead a full-fledged lifestyle.

Transplantation

When specialists decide that for the patient there is no other way out, but as an operative intervention, bone marrow transplantation can be performed. This procedure is associated with multiple risks to the life and health of the patient and in practice, even in the event of a successful outcome, can not always solve all the problems of the patient suffering from an immune disorder. In carrying out such an operation, the entire hematopoiesis system of the recipient is replaced by the same system provided by the donor.

Primary immunodeficiencies are the most complex problem of modern medicine, which, unfortunately, has not yet been fully resolved. An unfavorable prognosis for diseases of this kind is still prevalent, and this is doubly sad, given the fact that they are affected most often by children. But nevertheless, many forms of immunodeficiency are compatible with full-fledged life provided they are timely diagnosed and apply adequate therapy.