Influence of clinical and immunophenotypic variants of severe combined immunodeficiency on severity and outcomes of opportunistic infections

Severe combined immunodeficiency (SCID) is a primary that presents with life-threating symptoms in early infancy and has poor prognosis if not promptly treated. Here we present an analysis of infectious presentation its course depending on clinical immunophenotypic form SCID. This study supported by the Independent Ethics Committee approved Academic Council Dmitry Rogachev National Medical Research Center Pediatric Hematology, Oncology Immunology. 54 patients were diagnosed SCID our center from 2012 to June 2020 included this study. The median age at diagnosis was 5.8 months. All divided into 3 groups: classic ( n = 31); Omenn syndrome 11); maternal fetal engraftment 12). To determine opportunistic infections severity, based number infected organs disease presentation, groups formed: no or 1 organ, n=15; 2 15); more 22). 22 46 BCG vaccinated (48%) developed BCG-infection: 16 local 6 disseminated. There difference severity between p 0.22), severe found older than months diagnosis. T- NK-cell numbers lower level predisposed severer 0.041). higher risk low levels NK-cells 0.009). 45 received allogeneic hematopoietic stem cell transplantation (HSCT). 9 died before HSCT 21 after infections-related inflammatory syndromes. Though Т- NKcells might have role protecting infections, most important factor better patients.