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RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION

https://doi.org/10.15789/1563-0625-2016-6-583-588

Abstract

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.

About the Authors

S. S. Deryabina
Medical 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 Federation
Russian Federation

 

Head, Laboratory of Molecular Diagnostics, The Medical Centre “Healthcare of Mother and Child”; Junior Research Associate, Laboratory of Inflammation Immunology, Institute of Immunology and Physiology, Ural Branch, Russian Academy of Medical Sciences; Junior Research Associate, Department of Immunochemistry, B. Yeltsin Ural Federal University, Yekaterinburg, Russian Federation 




I. A. Tuzankina
Institute 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 Federation
Russian Federation

PhD, MD (Medicine), Professor, Main Research Associate, Laboratory of Inflammation Immunololgy, Institute of Immunology and Physiology, Ural Branch, Russian Academy of Medical Sciences; Leading Research Associate, Department of Immunochemistry, B. Yeltsin Ural Federal University; Clinical Allergologist/Immunologist, Research Department, Sverdlovsk Regional Children Clinical Hospital No. 1, Yekaterinburg, Russian Federation



E. V. Vlasova
Sverdlovsk Regional Children Clinical Hospital No. 1, Yekaterinburg, Russian Federation
Russian Federation

PhD (Medicine), Head, Department of Immunology



S. G. Lavrina
D. Rogachev Federal Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation
Russian Federation

Laboratory Clinician, Laboratory of Molecular Biology



V. N. Shershnev
B. Yeltsin Ural Federal University, Yekaterinburg, Russian Federation Institute of Industrial Ecology, Ural Branch, Russian Academy of Sciences, Yekaterinburg, Russian Federation
Russian Federation

PhD (Physics & Mathematics), Research Associate, Institute of Industrial Ecology; Assistant Professor of Computer Engineering Department



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Review

For citations:


Deryabina S.S., Tuzankina I.A., Vlasova E.V., Lavrina S.G., Shershnev V.N. RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION. Medical Immunology (Russia). 2016;18(6):583-588. (In Russ.) https://doi.org/10.15789/1563-0625-2016-6-583-588

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