A PEER-REVIEWED JOURNAL OF RESEARCH AND CLINICAL MEDICINEISSN 1727-2378 (Print)         ISSN 2713-2994 (Online)
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Nijmegen Breakage Syndrome Identification Using Excision Circles Levels of T and B Cells Recombination

For citation: Korsunskiy I. А., Pushkova Е. S., Zimin S. B., Gordukova М. А., Davydova N. V., Prodeus А. P. Nijmegen Breakage Syndrome Identification Using Excision Circles Levels of T and B Cells Recombination. Doctor.Ru. 2017; 15(144): 35–37.
26 December 00:00

Objective of the Paper: To demonstrate the need in high alert of general practitioners regarding primary immunodeficiency disorders as well as the importance of introduction of the test for TREC and KREC in laboratories of primary level centres.

Key Points: Primary immunodeficiency disorder, Nijmegen breakage syndrome, is a rare disease resulting in disability and death. The therapy efficiency depends on timely diagnosis.

The clinical case examined proves the available information on TREC and KREC level reduction in patients with Nijmegen breakage syndrome. Inexpensive and easy laboratory test for TREC and KREC levels allows suspecting cell immunity disorders prior to lymphocite phenotyping using flow cytometry.

Conclusion. Introduction of TREC and KREC tests into laboratories of primary and secondary level centres will result in expanding the diagnostic capacity of general practitioners in identification of patients with cell immunity disorders.

I. А. Korsunskiy — Children's City Clinical Hospital No.9 named after G. N. Speranskiy of Moscow Public Health Department. I. M. Sechenov First Moscow State Medical University Russian Ministry of Health. E-mail: iliakors@gmail.com

Е. S. Pushkova — Children's City Clinical Hospital No.9 named after G. N. Speranskiy of Moscow Public Health Department. E-mail: kate-pushkova@yandex.ru

S. B. Zimin — Children's City Clinical Hospital No.9 named after G. N. Speranskiy of Moscow Public Health Department. E-mail: zimin-sb@rambler.ru

М. А. Gordukova — Children's City Clinical Hospital No.9 named after G. N. Speranskiy of Moscow Public Health Department. E-mail: m.a.gordukova@gmail.com

N. V. Davydova — Children's City Clinical Hospital No.9 named after G. N. Speranskiy of Moscow Public Health Department. E-mail: nata1902@yandex.ru

А. P. Prodeus — Children's City Clinical Hospital No.9 named after G. N. Speranskiy of Moscow Public Health Department. E-mail: prodeus@mail.ru

Доктор.ру
26 December 00:00
LITERATURE
  1. Wolska-Kuśnierz B., Gregorek H., Chrzanowska K., Piątosa B., Pietrucha B., Heropolitańska-Pliszka E. et al.; Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies. Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options — a Retrospective Analysis. J. Clin. Immunol. 2015; 35(6): 538–49. DOI: 10.1007/s10875-015-0186-9.
  2. Pastorczak A., Szczepanski T., Mlynarski W.; International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group. Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. Eur. J. Med. Genet. 2016; 59(3): 126–32. DOI: 10.1016/j.ejmg.2016.01.007.
  3. Chan K., Puck J.M. Development of population-based newborn screening for severe combined immunodeficiency. J. Allergy Clin. Immunol. 2005; 115(2): 391–8.
  4. Serana F., Chiarini M., Zanotti C., Sottini A., Bertoli D., Bosio A. et al. Use of V(D)J recombination excision circles to identify T- and B-cell defects and to monitor the treatment in primary and acquired immunodeficiencies. J. Transl. Med. 2013; 11: 119. DOI: 10.1186/1479-5876-11-119.
  5. Гордукова М. А., Оскорбин И. П., Мишукова О. В., Зимин С. Б., Зиновьева Н. В., Давыдова Н. В. и др. Разработка набора реагентов для количественного определения молекул ДНК TREC и KREC в цельной крови и сухих пятнах крови методом мультиплексной ПЦР в режиме реального времени. Мед. иммунология. 2015; 17 (5): 467–78. [Gordukova M.A., Oskorbin I.P., Mishukova O.V., Zimin S.B., Zinov'eva N.V., Davydova 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. 2015; 17(5): 467–78. (in Russian)]
  6. Mauracher A.A., Pagliarulo F., Faes L., Vavassori S., Güngör T., Bachmann L.M. et al. Causes of low neonatal T-cell receptor excision circles: A systematic review. J. Allergy Clin. Immunol. Pract. 2017; 5(5): 1457–60. DOI: 10.1016/j.jaip.2017.02.009.

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