Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.

Inborn errors of immunity are known to influence susceptibility to mycobacterial infections. The aim of this study was to characterize the genetic profile of nine patients with mycobacterial infections (eight with BCGitis and one with disseminated tuberculosis) from the Republic of Moldova using whole-exome sequencing. In total, 12 variants in eight genes known to be associated with Mendelian Susceptibility to Mycobacterial Disease (MSMD) were detected in six out of nine patients examined.

Typing of Mycobacterium tuberculosis strains resistant to rifampicin and isoniazid by molecular biological methods.

Mutations in the rpoB, katG, inhA, oxyR/ahpC genes in rifampicin- and isoniazid-resistant M. tuberculosis strains isolated from residents of Moscow, Astrakhan', and Moldova Republic were studied by molecular biological methods (heteroduplex analysis, single strand conformational polymorphism, biochips). Twenty-five combinations of mutations were detected.

[The immunological aspects of metatuberculous pneumosclerosis].

It was found that a relationship exists between x-ray changes in the lungs, levels of IgG, IgM, IgA, antibodies counts in tuberculin enzyme immunoassay, circulating immune complexes (CIC), heterophilic antibodies and metatuberculous pneumosclerosis in patients with a history of active tuberculosis. A direct relationship was established between the advance of metatuberculous pneumosclerosis and CIC levels. The latter clearly reflect basic immunological mechanisms of fibrogenesis.

[Immunologic reactivity in patients with disseminated pulmonary tuberculosis with polysensitization].

Study of immunologic reactivity in patients with disseminated pulmonary tuberculosis has demonstrated that 80% of patients have sensitization to Mycobacterium tuberculosis antigens, in addition to that to bacterial flora (Streptococcus, Staphylococcus, Pneumococcus). The degree of immunity system damage depends on the character of the course and dissemination of the pathologic process. Three degrees of immunity system damage were distinguished: sharply manifested degree with suppression of all types of cellular immune response and activation of humoral immunity, which is seen in patients with bilateral caseous pneumonia and military pulmonary tuberculosis; manifested degree with suppression of cellular immunity, natural organism's resistance and moderate decrease of humoral immunity typical of subacute disseminated pulmonary tuberculosis; moderate degree with mild changes in cellular and humoral immune response and natural organism's resistance and high sensitization in the lymphocyte blast transformation reaction with specific antigen, which occurs in chronic disseminated pulmonary tuberculosis.

[Specific antibodies to different mycobacterial antigens in patients with pulmonary tuberculosis].

Antibodies to three mycobacterial antigens, Soviet tuberculin and ultrasound-treated Mycobacterium tuberculosis (H37Rv) and M. bovis (BCG) were detected by enzyme immunoassay in 90 patients with pulmonary tuberculosis and 75 normal subjects. Antibody detection rates and levels were found related to the form of tuberculous process.