Primary immunodeficiency is much more common than previously thought. This fact has become evident in recent years due to the discovery of various molecular defects underlying PID, and the awareness of a large variability in the clinical picture, manifesting not only in childhood, but also in adulthood. A who scientific team in 1997 identified more than 70 identified defects underlying PID. Currently, more than 140 genetic defects that determine severe disorders of the immune system are described. The prevalence of PID, according to the European society for Primary Immunodeficiency (ESID), is 1 case per person 25 000 — 100 000 in the population, selective IDA deficiency occurs with a frequency of 1 case per 500-700 people. If we compare European data with the number of residents of the Republic of Belarus, at present there should be at least 2,000 patients with a congenital defect of the immune system in our country, while only about 100 patients have been registered. Most of the PID is not diagnosed and dies from infectious-septic, oncological, neurological, autoimmune and other complications of this pathology.
The diagnosis of PID is based on a combination of clinical, immunological, genetic and molecular-biological methods of examination. The main role in the early detection of PID belongs to the primary level of medical care. You can already suspect a PID based on data from a correctly collected life/illness history of the child and their close relatives. In-depth diagnostics allows you to confirm the clinical diagnosis of PID and specify its type.
The clinic of congenital immunodeficiency has a number of common features:
- Recurrent and chronic infections of the upper respiratory tract, paranasal sinuses, skin, mucous membranes, gastrointestinal tract, often caused by opportunistic bacteria, protozoa, fungi, with a tendency to generalization, septicemia and torpid to conventional therapy.
- Hematological deficits: leukocytopenia, thrombocytopenia, anemia (hemolytic and megaloblastic).
- Autoimmune disorders: SLE-like syndrome, arthritis, scleroderma, chronic active hepatitis, thyroiditis.
- Often IDS is combined with allergic reactions of type 1 in the form of eczema, Quincke's edema, allergic reactions to the introduction of drugs, immunoglobulin, blood.
- Tumors and lymphoproliferative diseases are 1000 times more common with ID than without ID.
- Patients with IDD often have digestive disorders, diarrhoeal syndrome and malabsorption syndrome.
- Patients with IDD have unusual reactions to vaccination, and the use of live vaccines in them is dangerous for the development of sepsis.
- Primary IDS are often combined with malformations, primarily with hypoplasia of the cellular elements of cartilage and hair. Cardiovascular malformations are described mainly in Di-Giorgi syndrome.
Treatment of congenital immunodeficiency
Etiotropic therapy consists of correcting a genetic defect using genetic engineering methods. But this approach is experimental. The main efforts at the established primary IDC are aimed at:
- infection prevention
- replacement correction of a defective link of the immune system in the form of bone marrow transplantation, replacement of immunoglobulins,
- neutrophil transfusions.
- enzyme replacement therapy
- cytokine therapy
- vitamin therapy
- treatment of concomitant infections