Screening of newborns for primary immunodeficiencies and risk groups for immunoregulatory disorders requiring follow-up
Корсунскy И. А., Продеус А. П., Румянцев А. Г., Гордукова М. А., Корсунскy А. А., Кудлай Д. А., Филипенко М. Л., Счустер А. М.
Педиатрия. Журнал им. Г.Н. Сперанского
Т. 98, Вып. 3, С. 49-54
Опубликовано: 2019
Тип ресурса: Статья
DOI:10.24110/0031-403X-2019-98-3-49-54
Аннотация:
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
Ключевые слова:
KREC; Newborn screening; Next generation sequencing; Primary immunodeficiency; TREC
Article; blood examination; cellular regulation; follow up; gene sequence; host microbe interaction; human; immune deficiency; immunoregulation; kappa recombining excision circle; morbidity; mortality; next generation sequencing; pathology; phenotype; risk factor; screening; T cell receptor excision circle
Язык текста: Русский
ISSN: 1990-2182
Корсунскy И. А.
Продеус А. П.
Румянцев А. Г.
Гордукова М. А.
Корсунскy А. А.
Кудлай Д. А.
Филипенко М. Л.
Счустер А. М.
Korsunsky I. A.
Prodeus A. P.
Rumyantsev A. G.
Gordukova M. A.
Korsunsky A. A.
Kudlay D. A.
Filipenko M. L.
Schuster A. M.
Screening of newborns for primary immunodeficiencies and risk groups for immunoregulatory disorders requiring follow-up
Текст визуальный непосредственный
Педиатрия. Журнал им. Г.Н. Сперанского
ООО "Педиатрия"
Т. 98, Вып. 3 С. 49-54
2019
Статья
KREC Newborn screening Next generation sequencing Primary immunodeficiency TREC
Article blood examination cellular regulation follow up gene sequence host microbe interaction human immune deficiency immunoregulation kappa recombining excision circle morbidity mortality next generation sequencing pathology phenotype risk factor screening T cell receptor excision circle
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