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

Ilya Anatolyevich Korsunsky, A. P. Prodeus, A. G. Rumyantsev, M. A. Gordukova, A. A. Korsunsky, D. A. Kudlay, M. L. Filipenko, A. M. Schuster

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1 Citation (Scopus)


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.

Translated title of the contributionСкрининг новорожденных на первичные иммунодефициты и группу риска иммунорегуляторных расстройств, требующих диспансерного наблюдения
Original languageEnglish
Pages (from-to)49-54
Number of pages6
JournalPediatriya - Zhurnal im G.N. Speranskogo
Issue number3
Publication statusPublished - 1 May 2019


  • KREC
  • Newborn screening
  • Next generation sequencing
  • Primary immunodeficiency
  • TREC

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