NEW POSSIBILITIES OF ATAXIA-TELANGIECTASIA SCREENING
DOI:
https://doi.org/10.11603/1681-2786.2021.3.12622Keywords:
ataxia-telangiectasia, TREC/KREC, neonatal screeningAbstract
Purpose: to establish the diagnostic value of TREC/KREC levels quantification for early detection of changes of the immune system in children with ataxia-telangiectasia (AT).
Materials and Methods. TREC/KREC levels were determined by the method of polymerase chain reaction in real time in 25 children with AT aged 3 to 14 years and 173 healthy children of the control group. Clinical data analysis on the basis of medical records was also performed in children with AT.
Results. Low values of TREC molecules were found in 84 % of children with AT, and the number of KREC ones was reduced – in 48 % of children with AT. TREC molecules indicators were lower than KREC ones and there was a direct correlation dependence in children with AT (r = 0.4743, p<0.05). In addition, an inverse relationship was found between TREC values and alpha-fetoprotein concentration (r = -0.5507).
Conclusions. Significant reduction of TREC/KREC levels in children with AT indicates congenital T- and B-cell defects and can be used for early diagnostics of AT. Early detection of AT in mass screening programs for severe combined immunodeficiencies allows to identify the disease before the clinical manifestation, to conduct effective treatment, to prevent the development of severe infections.
References
Makukh, H., Zastavna, D., Tyrkus, M., Tretjak, B., & Chorna, L. (2008). Sposib vydilennya DNK z leykotsytiv peryferiynoyi krovi [The manner of DNA extaction from blood leucocytes]. Patent of serviceable model. Ukraine, 32044, UA. МПК (2006) G01N33/49. Zayavnyk DU «Instytut spadkovoyi patolohiyi AMNU» – State institution “Institute of Hereditary Pathology”. U200801896, 14.02.2008, 25.04.2008, bulletin No.8.
Mandola, A.B., Reid, B., & Sirror, R. (2019). Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years’ Experience. Frontiers in Immunology, 10, 1-7. doi:10.3389/fimmu.2019.02940
Zaki-Dizaji, M., Akrami, S.M., Abolhassani, H., Rezaei, N., & Aghamohammadi, A. (2017). Ataxia telangiectasia syndrome: moonlighting. ATM. Expert. Rev. Clin. Immunol. 13(12), 1155-1172. doi: 10.1080/1744666X.2017.139285
Bobba, N., Kaplan, M.S. (2005). Immunodeficiency and infections in ataxia-telangiectasia. Pediatrics., 116(2), 568-568.
Boyarchuk, O. & Dmytrash, L. (2019). Clinical Manifestations in the Patients with Primary Immunodeficiencies: Data from One Regional Center. Turkish Journal of Immunology., 7(3), 113-119.
Boyarchuk, O., Kostyuchenko, L., Volokha, A., Bondarenko, A., Hilfanova, A., Boyko, Y., & Kinash, M. (2020). Clinical and immunological presentation of ataxia-telangiectasia. Arch. Balk. Med. Union., 55(4), 573-581. https://doi.org/10.31688/ABMU.2020.55.4.03
Roifman, C.M., Somech, R., & Kavadas, F. (2012). Defining combined immunodeficiency. Journal of Allergy and Clinical Immunology., 130(1), 177-183.
Kraus, M., Lev, A., & Simon, A.J. (2014). Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia. Journal of Clinical Immunology, 34(5), 561-572. doi:10.1007/s10875-014-0044-1
Wölke, S., Donath, H., Bakhtiar, S., Trischler, J., Schubert, R., & Zielen, S. (2020). Immune competence and respiratory symptoms in patients with ataxia telangiectasia: A prospective follow-up study. Clin. Immunol. Aug, 217, 108491. doi: 10.1016/j.clim.2020.108491.
King, J., & Hammarström, L. (2018). Newborn screening for primary immunodeficiency diseases: history, current and future practice. J. Clin. Immunol., 38, 56-66.
Kwan, A. & Puck, J.M. (2015). History and current status of newborn screening for severe combined immunodeficiency. Semin. Perinatol., 39 (3), 194-205.
Bott, L., Lebreton, J.P., & Thumerelle, C. (2007). Lung disease in ataxia-telangiectasia. Acta Paediatr., 96(7), 1021-1024. doi:10.1111/j.1651-2227.2007.00338.x
Mallott, J., Kwan, A., & Church, J. (2012). Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia. Journal of Clinical Immunology, 33(3), 540-549. doi:10.1007/s10875-012-9846-1
van Zelm, M.C., van der Burg, M., Langerak, A.W., van Dongen, J.J. (2011). PID comes full circle: applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders. Front. Immunol., 2, 12. doi: 10.3389/fimmu.2011.00012.
Kinash, M., Boyarchuk, O., Shulhai, O., Boyko, Y., & Hariyan, T. (2020). Primary immunodeficiencies associated with DNA damage response: complexities of the diagnosis. Archives of the Balkan Medical Union., 55(3), 11-18.
Shiloh, Y. & Ziv, Y. (2013). The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat. Rev. Mol. Cell Biol., 14(4), 197-210. doi: 10.1038/nrm3546.
Eades Perner, A., Gathmann, B., Knerr, V., Guzman, D., Veit, D., Kindle, G., & Grimbacher, B. (2007). The European internet based patient and research database for primary immunodeficiencies: results 2004–06. Clinical & Experimental Immunology, 147, 306-312. doi:10.1111/j.1365-2249.2006.03292.x
Seidel, M.G., Kindle, G., Gathmann, B., Quinti, I., Buckland, M., & van Montfrans, J. (2019). The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. J. Allergy Clin. Immunol. Pract., 7(6), 1763-1770. doi:10.1016/j.jaip.2019.02.004
Tretyak, B., Makukh, H., & Kitsera, N. (2015). The molecular genetic analysis of common ATM gene mutations among patients with Ataxia-telagiectasiasuspection. Factors of Experimental Evolution of Organisms, 16, 251-255.
Serana, F., Chiarini, M., Zanotti, C., Sottini, A., Bertoli, D., Bosio, A., & Caimi, L. (2013). 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., 11, 119. doi: 10.1186/1479-5876-11-119
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