ASSESSMENT OF THE DISEASE MANIFESTATIONS CHARACTERISTICS IN PATIENTS WITH CONGENITAL IMMUNODEFICIENCY DISORDERS RECEIVING ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION
Authors:   National Scientific and Practical Center for Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Moscow, Russia, Laberko A.L. ,   Academician I.P. Pavlov First Saint Petersburg State Medical University, Saint Petersburg, Russia, Vashura A.Yu. ,   National Scientific and Practical Center for Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Moscow, Russia,   Pirogov Russian National Research Medical University, Moscow, Russia, Solopova G.G. ,   National Scientific and Practical Center for Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Moscow, Russia, Balashov D.N. ,   National Scientific and Practical Center for Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Moscow, Russia, Rumyantsev A.G. ,   National Scientific and Practical Center for Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Moscow, Russia
Published: June 2024

Congenital immunodeficiency disorders (CIDs) are a group of rare and diverse diseases that are based on dysfunction of the immune system. The only therapy that radically cures CIDs is allogeneic hematopoietic stem cell transplantation (HSCT). Despite the expansion of indications for HSCT in CIDs, making a decision on the need for HSCT in many diseases still remains a difficult task requiring an assessment of the risk for the life-threatening complications development in a patient. The purpose of this research was to assess the diseases developing in patients with CIDs who received allogeneic HSCT. Materials and methods used: the study included 312 patients with CIDs under the age of 18 y/o who had received allogeneic HSCT at the National Scientific and Practical Center for Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev (Moscow, Russia) in 2012-2020. The analysis was performed in 5 main groups of CIDs: immunodeficiencies with cellular and humoral defects (n=71), combined immune deficiency with associated or syndromic pathology (n=98), immune dysregulation defects (n=56), qualitative and quantitative defects of phagocytosis (n=57) and other CIDs nonmentioned above (n=30). Results: the presence of diseases uncontrolled by the therapy at the time of HSCT was noted in 160 (51%) patients. 73 (23%) had infection, 109 (35%) had autoimmune and/or autoinflammatory diseases, 15 (5%) showed absence of remission of an oncological disease. 33 patients had a combination of various diseases: 29 had infectious and autoinflammatory ones, two had infectious and tumor ones, another two had autoinflammatory and tumor. Active infections were observed in 48% of patients with immunodeficiencies with cellular and humoral defects and 33% of patients with other CIDs, active autoinflammatory processes in 43% of immune dysregulation defects and 63% of other CIDs, active tumors in 12% of patients with defects of phagocytosis. Conclusion: solutions have been proposed for assessing the pre-transplant status of patients with CIDs for the presence of infectious, autoimmune/autoinflammatory and oncological complications, age and nutritional status of the patient, which in tis turn underlie the choice for the optimal HSCT technique.