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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Autores principales:	S. S. Deryabina, I. A. Tuzankina, E. V. Vlasova, S. G. Lavrina, V. N. Shershnev
Formato:	article
Lenguaje:	RU
Publicado:	SPb RAACI 2016
Materias:	severe combined immunodeficiency (scid) primary immunodeficiency (pid) trec krec newborn screening retrospective diagnosis Immunologic diseases. Allergy RC581-607
Acceso en línea:	https://doaj.org/article/d6f9db08a1534b2d8d2d2b6935182e0a
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spelling	oai:doaj.org-article:d6f9db08a1534b2d8d2d2b6935182e0a2021-11-18T08:03:45ZRETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION1563-06252313-741X10.15789/1563-0625-2016-6-583-588https://doaj.org/article/d6f9db08a1534b2d8d2d2b6935182e0a2016-12-01T00:00:00Zhttps://www.mimmun.ru/mimmun/article/view/1141https://doaj.org/toc/1563-0625https://doaj.org/toc/2313-741XIn 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.S. S. DeryabinaI. A. TuzankinaE. V. VlasovaS. G. LavrinaV. N. ShershnevSPb RAACIarticlesevere combined immunodeficiency (scid)primary immunodeficiency (pid)treckrecnewborn screeningretrospective diagnosisImmunologic diseases. AllergyRC581-607RUMedicinskaâ Immunologiâ, Vol 18, Iss 6, Pp 583-588 (2016)
institution	DOAJ
collection	DOAJ
language	RU
topic	severe combined immunodeficiency (scid) primary immunodeficiency (pid) trec krec newborn screening retrospective diagnosis Immunologic diseases. Allergy RC581-607
spellingShingle	severe combined immunodeficiency (scid) primary immunodeficiency (pid) trec krec newborn screening retrospective diagnosis Immunologic diseases. Allergy RC581-607 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
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
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
title	RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION
title_short	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_sort	retrospective diagnosis of primary immunodeficiencies for children in sverdlovsk region
publisher	SPb RAACI
publishDate	2016
url	https://doaj.org/article/d6f9db08a1534b2d8d2d2b6935182e0a
work_keys_str_mv	AT ssderyabina retrospectivediagnosisofprimaryimmunodeficienciesforchildreninsverdlovskregion AT iatuzankina retrospectivediagnosisofprimaryimmunodeficienciesforchildreninsverdlovskregion AT evvlasova retrospectivediagnosisofprimaryimmunodeficienciesforchildreninsverdlovskregion AT sglavrina retrospectivediagnosisofprimaryimmunodeficienciesforchildreninsverdlovskregion AT vnshershnev retrospectivediagnosisofprimaryimmunodeficienciesforchildreninsverdlovskregion
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RETROSPECTIVE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCIES FOR CHILDREN IN SVERDLOVSK REGION

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