NEWBORN SCREENING FOR T AND B CELL LYMPHOPENIA
DOI:
https://doi.org/10.11603/1681-2786.2020.3.11615Keywords:
newborn screening, severe combined immunodeficiency, TREC, KREC, T cell lymphopeniaAbstract
Purpose: to determine the possibilities of newborn screening for T and B cell lymphopenia in Ukraine for the diagnosis of SCID.
Materials and Methods. A search and analysis of available literature sources in the PubMed database, using a combination of keywords “early diagnosis”, “neonatal screening”, “TREC”, “KREC”, “primary immunodeficiency”, “SCID”, “T and B cell lymphopenia”.
Results. Detection of SCID and antibody defects is based on the method using molecular genetic methods of quantitative detection of T-cell receptor excision circle (TREC), which is a product of T-cell differentiation in the thymus, and determine T cell lymphopenia, and kappa-deleting recombination excision circle (KREC), which are formed during the maturation of B cells in the bone marrow and determine B cell lymphopenia.
Newborn screening using TREC/KREC assay will allow early recognition of SCID, provide timely hematopoietic stem cell transplantation (HSCT), before severe infections will presented, that is very important as infections significantly worsen the prognosis of treatment. In addition, newborn screening will allow to establish the real prevalence of SCID in Ukraine, as well as detecting of other diseases with lymphopenia.
Conclusions. The analysis of literature data indicates the feasibility of conducting a pilot study on newborn screening of primary immunodeficiency by using TRECs and KRECs assay for T- and B-lymphopenia, which will allow to choose the best method, determine the cutoff value of TRECs and KRECs levels for the diagnosis of lymphopenia and SCID in Ukraine.
References
Boyarchuk, O.R., & Mishchanchuk, V.A. (2019). Kliniko-patohenetychna kharakterystyka i znachennia tsytopenii (leiko-, limfo-, neitropenii) u novonarodzhenykh ditei [Clinical and pathophysiological characteristics and significance of newborn cytopenia (neutropenia, leukopenia and lymphopenia)]. Suchasna pediatriia. Ukraina – Modern Pediatrics. Ukraine, 6 (102), 5560 [in Ukrainian]. DOI: https://doi.org/10.15574/SP.2019.102.55
Kinash, M.I., Boyarchuk, O.R., Hariyan, T.V., & Dobrovolska, L.I. (2019). Voprosy sovershenstvovaniya znaniy o pervichnykh immunodefitsitakh [Issues of improving knowledge about primary immunodeficiency]. Vopr. prakt. pediatr. –Clinical Practice in Pediatrics, 14 (6), 55-62 [in Russian].
Boiarchuk, O.R., Volokha, A.P., & Volianska, L.A. (2019). Diahnostychni alhorytmy pervynnykh imunodefitsytiv [Diagnostic algorithms of primary immunodeficiency]. Ternopil: TNMU [in Ukrainian].
Blom, M., Pico-Knijnenburg, I., Sijne-van Veen, M., Boelen, A., Bredius, R., van der Burg, M., & Schielen, P. (2017). An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program. Clinical Immunology (Orlando, Fla.), 180, 106-110. DOI: https://doi.org/10.1016/j.clim.2017.05.007
Hariyan, T., Kinash, M., Kovalenko, R., & Boyarchuk, O. (2020). Evaluation of awareness about primary immunodeficiencies among physicians before and after implementation of the educational program: A longitudinal study. PLoS ONE 15 (5), e0233342. DOI: https://doi.org/10.1371/journal.pone.0233342
Modell, V., Knaus, M., Modell, F., Roifman, C., Orange, J., & Notarangelo, L.D. (2014). Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery. Immunologic Research, 60 (1), 132-144. DOI: https://doi.org/10.1007/s12026-014-8498-z
King, J.R., & Hammarström, L. (2018). Newborn screening for primary immunodeficiency diseases: History, current and future practice. Journal of Clinical Immunology, 38 (1), 56-66. DOI: https://doi.org/10.1007/s10875-017-0455-x
Puck, J.M. (2019). Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. Immunological Reviews, 287 (1), 241-252. DOI: https://doi.org/10.1111/imr.12729
Boyarchuk, O., Volokha, A., Hariyan, T., Kinash, M., Volyanska, L., Birchenko, I., Habor, H., & Korda, M. (2019). The impact of combining educational program with the improving of infrastructure to diagnose on early detection of primary immunodeficiencies in children. Immunologic Research, 67 (4-5), 390-397. DOI: https://doi.org/10.1007/s12026-019-09103-w
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2020 Bulletin of Social Hygiene and Health Protection Organization of Ukraine
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Authors who publish in this journal agree to the following terms:
1. The authors reserve the right to authorship of the work and pass the journal right of first publication of this work is licensed under a Creative Commons Attribution License, which allows others to freely distribute the work published with reference to the authors of the original work and the first publication of this magazine.
2. Authors are entitled to enter into a separate agreement on additional non-exclusive distribution of work in the form in which it was published in the magazine (eg work place in the electronic repository institution or publish monographs in part), provided that the reference to the first publication of this magazine.
3. Policy magazine allows and encourages authors placement on the Internet (eg, in storage facilities or on personal websites) manuscript of how to submit the manuscript to the editor and during his editorial processing, since it contributes to productive scientific discussion and positive impact on the efficiency and dynamics of citing published work (see. The Effect of Open Access).
