TY - JOUR

T1 - Screening of newborns for primary immunodeficiencies and risk groups for immunoregulatory disorders requiring follow-up

AU - Korsunsky, Ilya Anatolyevich

AU - Prodeus, A. P.

AU - Rumyantsev, A. G.

AU - Gordukova, M. A.

AU - Korsunsky, A. A.

AU - Kudlay, D. A.

AU - Filipenko, M. L.

AU - Schuster, A. M.

N1 - Корсунский И.А., Продеус А.П., Румянцев А.Г., Гордукова М.А., Корсунский А.А., Кудлай Д.А., Филипенко М.Л., Шустер А.М. Скрининг новорожденных на первичные иммунодефициты и группу риска иммунорегуляторных расстройств, требующих диспансерного наблюдения // Педиатрия. - 2019. - Т. 98. - № 3. - С. 49-53

PY - 2019/5/1

Y1 - 2019/5/1

N2 - Population screening of newborns allows to identify children before the onset of severe congenital diseases for which effective treatment and/or prevention of serious complications is available. Primary immunodeficiency states (PIDs) are a heterogeneous group of congenital immune disorders, most of which manifest in infancy and early childhood and lead to high morbidity and mortality. The number of identified PIDs reached 400 diseases with a wide range of clinical phenotypes and various pathophysiological mechanisms of impaired cellular regulation of a multicellular host organism. The article presents evolution and results of screening newborns for PIDs with various tests: From a blood test with counting the number of lymphocytes to determining T-cell receptor excision circle-TREC) and Kappa recombining excision circles-KREC, as well as tests based on the study of protein, targeted sequencing, sequencing of the next generation (NGS), including full-cell sequencing. Results of neonatal screening for PIDS using domestic tests for TREC and KREC in 17,476 infants are presented. The group of probable PIDS amounted to 0,09%, the group of PIDS-0,017% of subjects, which is the basis for recommending the introduction of neonatal screening for PIDS in the Russian Federation.

AB - Population screening of newborns allows to identify children before the onset of severe congenital diseases for which effective treatment and/or prevention of serious complications is available. Primary immunodeficiency states (PIDs) are a heterogeneous group of congenital immune disorders, most of which manifest in infancy and early childhood and lead to high morbidity and mortality. The number of identified PIDs reached 400 diseases with a wide range of clinical phenotypes and various pathophysiological mechanisms of impaired cellular regulation of a multicellular host organism. The article presents evolution and results of screening newborns for PIDs with various tests: From a blood test with counting the number of lymphocytes to determining T-cell receptor excision circle-TREC) and Kappa recombining excision circles-KREC, as well as tests based on the study of protein, targeted sequencing, sequencing of the next generation (NGS), including full-cell sequencing. Results of neonatal screening for PIDS using domestic tests for TREC and KREC in 17,476 infants are presented. The group of probable PIDS amounted to 0,09%, the group of PIDS-0,017% of subjects, which is the basis for recommending the introduction of neonatal screening for PIDS in the Russian Federation.

KW - KREC

KW - Newborn screening

KW - Next generation sequencing

KW - Primary immunodeficiency

KW - TREC

UR - http://www.scopus.com/inward/record.url?scp=85071748416&partnerID=8YFLogxK

UR - https://www.elibrary.ru/item.asp?id=37636466

U2 - 10.24110/0031-403X-2019-98-3-49-54

DO - 10.24110/0031-403X-2019-98-3-49-54

M3 - Article

AN - SCOPUS:85071748416

VL - 98

SP - 49

EP - 54

JO - Pediatriya - Zhurnal im G.N. Speranskogo

JF - Pediatriya - Zhurnal im G.N. Speranskogo

SN - 0031-403X

IS - 3

ER -