RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION
In order to justify a need for mass screening of primary immunodeficiencies (PID) in a regional program for the newborns, we performed a retrospective study of blood spots (archived screening cards) from the babies who deceased at the first year of life (n = 43). To this purpose, the copy numbers of...
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St. Petersburg branch of the Russian Association of Allergologists and Clinical Immunologists
2016-12-01
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| Series: | Медицинская иммунология |
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| Online Access: | https://www.mimmun.ru/mimmun/article/view/1141 |
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| author | S. S. Deryabina I. A. Tuzankina E. V. Vlasova S. G. Lavrina V. N. Shershnev |
| author_facet | S. S. Deryabina I. A. Tuzankina E. V. Vlasova S. G. Lavrina V. N. Shershnev |
| author_sort | S. S. Deryabina |
| collection | DOAJ |
| description | In order to justify a need for mass screening of primary immunodeficiencies (PID) in a regional program for the newborns, we performed a retrospective study of blood spots (archived screening cards) from the babies who deceased at the first year of life (n = 43). To this purpose, the copy numbers of T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) have been measured. Notably decreased levels of TREC and (or) KREC were revealed in 16 cases (37.0%). Typical clinical pattern and presence of 22q11.2 deletion confirmed a PID diagnosis (DiGeorge syndrome) in one case. In five additional cases, the RAG1 gene defects have been detected, i.e., His249Arg (two heterozygous patients in our study), and Lys820Arg variants (one heterozygous case, and one compound heterozygote) have been observed in our group. Morover, one novel mutation was revealed in heterozygous state, i.e., c.1315C>G (Leu439Val). A synopsis of clinical patterns, hematological data, immunological testing and molecular biology could establish the PID diagnosis in these cases. Hence, we have confirmed a need for introduction of TREC and KREC determination in neonatal PID screening programs, aiming for their timely diagnostics and treatment. |
| format | Article |
| id | doaj-art-d6f9db08a1534b2d8d2d2b6935182e0a |
| institution | Kabale University |
| issn | 1563-0625 2313-741X |
| language | Russian |
| publishDate | 2016-12-01 |
| publisher | St. Petersburg branch of the Russian Association of Allergologists and Clinical Immunologists |
| record_format | Article |
| series | Медицинская иммунология |
| spelling | doaj-art-d6f9db08a1534b2d8d2d2b6935182e0a2025-08-20T03:37:45ZrusSt. Petersburg branch of the Russian Association of Allergologists and Clinical ImmunologistsМедицинская иммунология1563-06252313-741X2016-12-0118658358810.15789/1563-0625-2016-6-583-588874RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGIONS. S. Deryabina0I. A. Tuzankina1E. V. Vlasova2S. G. Lavrina3V. N. Shershnev4Medical Centre “Healthcare of Mother and Child”, Yekaterinburg, Russian Federation Institute of Immunology and Physiology, Ural Branch, Russian Academy of Medical Sciences, Yekaterinburg, Russian Federation B. Yeltsin Ural Federal University, Yekaterinburg, Russian FederationInstitute of Immunology and Physiology, Ural Branch, Russian Academy of Medical Sciences, Yekaterinburg, Russian Federation B. Yeltsin Ural Federal University, Yekaterinburg, Russian Federation Sverdlovsk Regional Children Clinical Hospital No. 1, Yekaterinburg, Russian FederationSverdlovsk Regional Children Clinical Hospital No. 1, Yekaterinburg, Russian FederationD. Rogachev Federal Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian FederationB. Yeltsin Ural Federal University, Yekaterinburg, Russian Federation Institute of Industrial Ecology, Ural Branch, Russian Academy of Sciences, Yekaterinburg, Russian FederationIn order to justify a need for mass screening of primary immunodeficiencies (PID) in a regional program for the newborns, we performed a retrospective study of blood spots (archived screening cards) from the babies who deceased at the first year of life (n = 43). To this purpose, the copy numbers of T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) have been measured. Notably decreased levels of TREC and (or) KREC were revealed in 16 cases (37.0%). Typical clinical pattern and presence of 22q11.2 deletion confirmed a PID diagnosis (DiGeorge syndrome) in one case. In five additional cases, the RAG1 gene defects have been detected, i.e., His249Arg (two heterozygous patients in our study), and Lys820Arg variants (one heterozygous case, and one compound heterozygote) have been observed in our group. Morover, one novel mutation was revealed in heterozygous state, i.e., c.1315C>G (Leu439Val). A synopsis of clinical patterns, hematological data, immunological testing and molecular biology could establish the PID diagnosis in these cases. Hence, we have confirmed a need for introduction of TREC and KREC determination in neonatal PID screening programs, aiming for their timely diagnostics and treatment.https://www.mimmun.ru/mimmun/article/view/1141severe combined immunodeficiency (scid)primary immunodeficiency (pid)treckrecnewborn screeningretrospective diagnosis |
| spellingShingle | S. S. Deryabina I. A. Tuzankina E. V. Vlasova S. G. Lavrina V. N. Shershnev RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION Медицинская иммунология severe combined immunodeficiency (scid) primary immunodeficiency (pid) trec krec newborn screening retrospective diagnosis |
| title | RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION |
| title_full | RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION |
| title_fullStr | RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION |
| title_full_unstemmed | RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION |
| title_short | RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION |
| title_sort | retrospective diagnosis of primary immunodeficiencies for children in sverdlovsk region |
| topic | severe combined immunodeficiency (scid) primary immunodeficiency (pid) trec krec newborn screening retrospective diagnosis |
| url | https://www.mimmun.ru/mimmun/article/view/1141 |
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