DETECTION OF VARIOUS GENETIC MUTATIONS IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY

Abstract

The article provides information on the identification of various genetic mutations and other genetic diseases in patients with primary immunodeficiencies (PID) in Azerbaijan. Of the 163 patients who underwent extensive immunological and genetic studies (number of T-lymphocytes, their subpopulations, immunoregulatory index, B-lymphocytes, natural killer cells, immunoglobulins and phagocytic activity of neutrophils), serious disorders of the immune system, as well as various gene mutations, were identified. In accordance with the international classification, patients were given various diagnoses of PID. It was found that in 7 patients with PID, in addition to immunodeficiency genes, other genetic diseases with characteristic genetic mutations and clinical manifestations were also identified. Thus, 5 patients were diagnosed with Familial Mediterranean Fever (FMF) and primary immunodeficiency. One patient had a combination of primary immunodeficiency with FMF and α-thalassemia, and another 1 patient was diagnosed with β-thalassemia along with congenital immunodeficiency. The article uses a clinical example to show a patient diagnosed with alpha- thalassemia and FMF due to congenital immunodeficiency. The interesting fact is that all three genetic diseases were associated with different gene mutations on the same chromosome (chromosome 16). The simultaneous occurrence of 3 genetic diseases in one patient leads to a complicated course and severe prognosis of the disease.