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Treatment of combined T and B-cell immunodeficiencies
Last reviewed: 19.10.2021
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Principles of treatment of severe combined immune deficiency
Severe combined immune deficiency is an urgent condition in pediatrics. If TKIN is diagnosed within the first month of life, adequate therapy and allogeneic HLA of identical or haploidentical bone marrow transplantation (TKM) or hematopoietic stem cells (TSCC) ensures the survival of more than 90% of patients regardless of the form of immunodeficiency. In the case of a later diagnosis, serious infections develop that are poorly amenable to therapy, and the survival of patients falls sharply.
Immediately after the diagnosis of severe combined immune deficiency, children should be under gnotobiological conditions (sterile box), in case of infection, intensive prothiomicrobial, antiviral and antifungal therapy, intravenous immunoglobulin replacement therapy is performed. Since BCG vaccination is carried out in the first days of life, children with SCID and, in most cases, are infected, and they develop BCG-ita of varying severity (from local to generalized infection). BCG infection requires the appointment of prolonged intensive antituberculous therapy. To prevent pneumocystis pneumonia appoint co-trimoxazole. It should be specially noted that if it is necessary to carry out transfusions of blood components (erythrocyte mass, thromboconcentrate), only irradiated and filtered preparations should be used. In the case of transfusion of unirradiated erythrocytes and platelets, posttransfusion GVHD develops.
After the TSCC, the full immunological reconstitution does not always develop. Some patients do not complete B-cell engraftment, and they need lifelong replacement therapy with intravenous immunoglobulin, but this condition is usually not incompatible with the life of an immunological defect.
In families with a history of SCID, prenatal diagnosis is especially important. Even if the parents decide to keep the pregnancy, placing the patients from birth in sterile conditions and early transplantation significantly improve the prognosis. In addition, in several cases of prenatal confirmation of SCID, intrauterine bone marrow transplantation from the father was made, most of them were successful.
Gene therapy
In connection with the lethality of SCI in the absence of THSC and often incomplete reconstitution in its conduct, patients with severe combined immune deficiency became the first candidates for gene therapy. To date, it was carried out in 9 patients. At the same time, the two youngest patients from the group developed leukemia-like diseases after a while, associated with mutagenesis caused by the transfected vector. In connection with this, the search for more effective vectors for use in gene therapy is currently underway.