Genetic variants identified in children with recurrent infections
Currently, the most effective way to diagnose hereditary defects of the immune system is molecular genetic research, the results of which are evaluated in conjunction with the data of clinical and laboratory studies.Aims of the sudy: to evaluate the frequency and spectrum of rare genetic variants as...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
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LLC "Diagnostics and Vaccines"
2021-12-01
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| Series: | Детские инфекции (Москва) |
| Subjects: | |
| Online Access: | https://detinf.elpub.ru/jour/article/view/635 |
| _version_ | 1826547036630024192 |
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| author | A. S. Levina E. N. Suspitsin N. V. Skripchenko O. V. Goleva O. M. Ibragimova |
| author_facet | A. S. Levina E. N. Suspitsin N. V. Skripchenko O. V. Goleva O. M. Ibragimova |
| author_sort | A. S. Levina |
| collection | DOAJ |
| description | Currently, the most effective way to diagnose hereditary defects of the immune system is molecular genetic research, the results of which are evaluated in conjunction with the data of clinical and laboratory studies.Aims of the sudy: to evaluate the frequency and spectrum of rare genetic variants associated with the development of primary immunodeficiency (PID) in children with recurrent infections.Materials and methods: DNA samples from 113 children with recurrent infections were analyzed by targeted multigene sequencing of 338 PID-associated genes. Results: Pathogenic variants appropriate to the potential diagnosis of PID were identified in 8% of patients. Interestingly, 47.8% of children had variants associated with auto-inflammatory disorders. |
| first_indexed | 2024-04-10T03:24:13Z |
| format | Article |
| id | doaj.art-498b26d851ce417c862ec3686027beb7 |
| institution | Directory Open Access Journal |
| issn | 2072-8107 |
| language | Russian |
| last_indexed | 2025-03-14T05:43:16Z |
| publishDate | 2021-12-01 |
| publisher | LLC "Diagnostics and Vaccines" |
| record_format | Article |
| series | Детские инфекции (Москва) |
| spelling | doaj.art-498b26d851ce417c862ec3686027beb72025-03-05T13:50:45ZrusLLC "Diagnostics and Vaccines"Детские инфекции (Москва)2072-81072021-12-01204131710.22627/2072-8107-2021-20-4-13-17526Genetic variants identified in children with recurrent infectionsA. S. Levina0E. N. Suspitsin1N. V. Skripchenko2O. V. Goleva3O. M. Ibragimova4Saint-Petersburg State Pediatric Medical University; Pediatric Research and Clinical Center for Infectious DiseasesSaint-Petersburg State Pediatric Medical University; National Medical Research Center of Oncology named after N.N.PetrovSaint-Petersburg State Pediatric Medical University; Pediatric Research and Clinical Center for Infectious DiseasesPediatric Research and Clinical Center for Infectious DiseasesPediatric Research and Clinical Center for Infectious DiseasesCurrently, the most effective way to diagnose hereditary defects of the immune system is molecular genetic research, the results of which are evaluated in conjunction with the data of clinical and laboratory studies.Aims of the sudy: to evaluate the frequency and spectrum of rare genetic variants associated with the development of primary immunodeficiency (PID) in children with recurrent infections.Materials and methods: DNA samples from 113 children with recurrent infections were analyzed by targeted multigene sequencing of 338 PID-associated genes. Results: Pathogenic variants appropriate to the potential diagnosis of PID were identified in 8% of patients. Interestingly, 47.8% of children had variants associated with auto-inflammatory disorders.https://detinf.elpub.ru/jour/article/view/635childrenrecurrent infectionsprimary immunodeficiencygenetic analysis |
| spellingShingle | A. S. Levina E. N. Suspitsin N. V. Skripchenko O. V. Goleva O. M. Ibragimova Genetic variants identified in children with recurrent infections Детские инфекции (Москва) children recurrent infections primary immunodeficiency genetic analysis |
| title | Genetic variants identified in children with recurrent infections |
| title_full | Genetic variants identified in children with recurrent infections |
| title_fullStr | Genetic variants identified in children with recurrent infections |
| title_full_unstemmed | Genetic variants identified in children with recurrent infections |
| title_short | Genetic variants identified in children with recurrent infections |
| title_sort | genetic variants identified in children with recurrent infections |
| topic | children recurrent infections primary immunodeficiency genetic analysis |
| url | https://detinf.elpub.ru/jour/article/view/635 |
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