• Main page
• About the journal
• Editorial board
• Subscription
• Information for contributors
• Editorial and Peer Review
• Issues archive
• Authors
• Articles
  • By alphabet
  • By category
• Blogs and comments

The journal is included into The list of leading scientific periodicals.

The journal is included into VINITI database and is registered in Electronic scientific library.

The journal is indexed by SCOPUS, Ulrich's International Periodicals Directory.

EBSCO

https://doi.org/10.14300/mnnc.2019.14157

Diagnostic significance of excision rings of T- and B-cell receptor gene rearrangement for the diagnosis of immune disorders in newborns

[Pediatrics]
Lyudmila Sergeevna Khachirova; Lyudmila Barycheva; Leila Timurovna Kubanova; Maria Alexandrovna Gordukova; Marina Golubeva; Alexander Viktorovich Karaulov;

The paper presents the results of retrospective determination of markers of T-cell (TREC) and B-cell (KREC) immunodeficiency in 49 children who died in the first year of life due to severe infections. In 11.6 % of cases, patients with clinical and pathological signs of congenital immunodeficiency showed a significant decrease in TREC and/or KREC to undetectable values. It was revealed that the decrease in the level of TREC is observed in premature infants with gestation less than 28 weeks, as well as in the group of children with congenital defects of the heart and main vessels, gastrointestinal tract, kidneys and urinary tract. A review of the data shows that the determination of TREC and KREC is an effective tool for the detection of congenital immunodeficiency and other T-cell lymphopenia requiring preventive measures to prevent serious infections.

Download

References:
1. Blom M., Bredius R. G. M., Weijman G., Dekkers E. H. B. M., Kemper E. A. [et al.]. Introducing Newborn Screening for Severe Combined Immunodefi ciency (SCID) in the Dutch Neonatal Screening Program. Int. J. Neonatal Screen. 2018;4(4):40. https://doi.org/10.3390/ijns4040040
2. Kwan A., Puck J. M. History and current status of newborn screening for severe combined immunodefi ciency. Semin. Perinatol. 2015;39(3):194-205. https://doi.org/10.1053/j.semperi.2015.03.004
3. Barbaro M., Ohlsson A., Borte S., Jonsson S., Zetterström R. H. [et al.]. Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study. J. ClinImmunol. 2017;37(1):51-60. https://doi.org/10.1007/s10875-016-0347-5
4. Kwan A., Abraham R. S., Currier R., Brower A., Andruszewski K. [et al.]. Newborn screening for severe
combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312:729-738. https://doi.org/10.1001/jama.2014.9132
5. Tuzankina I. A., Deryabina S. S., Bolkov M. A., Bass E. A., Vlasova E. V. [i dr.]. Pervichnye immunodefitsity v rannem vozraste. Moskva, 2018. (In Russ.).
6. Korsunskiy I. A., Prodeus A. P.,Rumyantsev A. G., Gordukova M. A., Korsunskiy A. A. [i dr.]. Skrining novorozhdennykh na pervichnye immunodefitsity I gruppu riska immunoregulyatornykh rasstroystv, trebuyushchikh dispansernogo nablyudeniya. Pediatriya im. G. N. Speranskogo. – Pediatriya named after G. N. Speransky. 2019;98(3):49-54. (In Russ.). https://doi.org/10.24110/0031-403X-2019-98-3-49-54
7. Mauracher A. A., Pagliarulo F., Faes L., Vavassori S.,Güngör T. [et al.]. Causes of low neonatal T-cell receptor excision circles: A systematic review. J. Allergy Clin. Immunol. Pract. 2017;5(5):1457-1460. https://doi.org/10.1016/j.jaip.2017.02.009
8. Ding Y., Thompson J. D., Kobrynski L., Ojodu J., Zarbalian G. [et al.]. Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State. J. Pediatr. 2016;172:127-135. https://doi.org/10.1016/j.jpeds.2016.01.029
9. Clément M. C., Mahlaoui N., Mignot C., Le Bihan C., Rabetrano H. Systematic neonatal screening for
severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based
on French real field data. J. Allergy Clin Immunol. 2015;135(6):1589-1593. https://doi.org/10.1016/j.jaci.2015.02.004
10. Vogel B. H., Bonagura V., Weinberg G. A., Ballow M.,Isabelle J. [et al.]. Newborn screening for SCID in New York State: experience from the first two years. J. ClinImmunol. 2014;34(3):289-303. https://doi.org/10.1007/s10875-014-0006-7
11. Borte S., Meeths M., Liebscher I., Krist K., Nordenskjöld M. [et al.]. Combined newborn screening for familial hemophagocyticlymphohistiocytosis and severe T- and B-cell immunodeficiencies. J. Allergy Clin. Immunol. 2014;134(1):226-228. https://doi.org/10.1016/j.jaci.2014.04.026
12. Dar N., Gothelf D., Korn D., Frisch A., Weizman A. [et al.]. Thymic and bone marrow output in ndividuals with 22q11.2 deletion syndrome. Pediatr. Res. 2015;77(4):579-585. https://doi.org/10.1038/pr.2015.14
13. King J. R., Hammarström L. Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice. J. Clin. Immunol. 2018;38(1):56-66. https://doi.org/10.1007/s10875-017-0455-x
14. Gordukova M. A., Oskorbin I. P., Mishukova O. V., Zimin S. B., Zinov’eva N. V. [i dr.]. Razrabotka nabora reagentov dlya kolichestvennogo opredeleniya molekul DNK TREC i KREC v tsel’noi krovi i sukhikh pyatnakh krovi metodom mul’tipleksnoi PTsR v rezhime real’nogo vremeni. Med. immunologiya. – Medical immunology. 2015;17(5):467-478. (In Russ.). https://doi.org/10.15789/1563-0625-2015-5-467-478
15. Ivanovskaya T. E., Zayrat’yants O. V., Leonova L. V., Voloshchuk I. N. Patologiyatimusa u detey. Spb.: «SOTIS», 1996. (In Russ.).
16. Tuzankina I. A., Deryabina S. S., Vlasova E. V., Bolkov M. A. Semeyniy sluchai sindroma Di Dzhordzhi (sindroma deletsii 22q11.2). Meditsinskaya immunologiya. – Medical immunology.2017;19(1):95-100. (In Russ.). https://doi.org/:10.15789/1563-0625-2017-1-95-100
17. Verstegen R. H., Borte S., Bok L. A., van Zwieten P. H., von Döbeln U. [et al.]. Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases. J. Allergy Clin. Immunol. 2014;133(4):1208-1211. https://doi.org/10.1016/j.jaci.2013.10.010
18. Kanegae M. P. P., Barreiros L. A., Sousa J. L., Brito M. A. S., Oliveira E. B. Newborn screening for severe combined immunodeficiencies using trecs and krecs: second pilot study in brazil. Rev. Paul Pediatr. 2017;35(1):25-32. https://doi.org/10.1590/1984-0462/;2017;35;1;00013
19. de Felipe B., Olbrich P., Lucenas J. M., Delgado-Pecellin C., Pavon-Delgado A. [et al.]. Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville. Pediatr. Allergy Immunol. 2016;27:70-77. https://doi.org/10.1111/pai.12501

Keywords: congenital immunodeficiency, secondary T-cell lymphopenia, TREC, KREC