DOI: https://doi.org/10.24061/2413-4260.X.3.37.2020.2
НЕОНАТАЛЬНИЙ СКРИНІНГ В УКРАЇНІ: НОВІ ВИКЛИКИ
Анотація
Ключові слова
Повний текст:
PDFПосилання
.1 Gordukova MA, Oskorbin IP, Mishukova OV, Zimin SB, Zinov'eva NV, Davydova N.V., i dr. Razrabotka nabora reagentov dlya kolichestvennogo opredeleniya molekul DNK TREC i KREC v tsel'noy krovi i sukhikh pyatnakh krovi metodom mul'tipleksnoy PTsR v rezhime real'nogo vremeni [Development of real-time multiplex PCR for the quantitative determination of TREC''S and KREC''S in whole blood and in dried blood spots]. Meditsinskaya immunologiya. 2015;17(5):467-78. (in Russian).
.2 Gul KA, Qverland T, Osnes L, Baumbusch LO, Pettersen RD, Lima K, et al. Neonatal Levels of T-cell Receptor Excision Circles (TREC) in Patients with 22q11.2 Deletion Syndrome and Later Disease Features. J Clin Immunol. 2015;35(4):408-15. doi: 10.1007/s10875-015-0153-5.
.3 Deryabina SS, Tuzankina IA, Vlasova EV, Bolkov MA, Shershnev VN. Neonatal'nyy skrining na tyazheluyu kombinirovannuyu immunnuyu nedostatochnost' v Rossii: prekrasnoe daleko ili zavtrashnyaya real'nost'? [Neonatal screening for severe combined immune deficiency in Russia: glorious future or tomorrow''s reality?]. Voprosy sovremennoy pediatrii. 2017;16(1):59-66. doi: 10.15690/vsp.v16i1.1696. (in Russian).
.4 Korsunskiy IA, Gordukova MA, Munblit DB, Kozlov IG, Prodeus AP, Korsunskiy AA. Klinicheskie i epidemiologicheskie aspekty pervichnykh immunodefitsitnykh sostoyaniy i ikh rannego obnaruzheniya [Clinical and epidemiological aspects of primary immunodeficiency diseases (pid) and early diagnosis options]. Meditsinskaya immunologiya. 2017;19(5):505-12. (in Russian).
.5 Raspa M, Lynch M, Squiers L, Gwaltney A, Porter K, Peay H, et al. Information and Emotional Support Needs of Families Whose Infant Was Diagnosed With SCID Through Newborn Screening. Front Immunol [Internet]. 2020[cited 2020 May 21];11:885. Available from: https://www.frontiersin.org/articles/10.3389/fimmu.2020.00885/full doi: 10.3389/fimmu.2020.00885.
.6 Abghari P, Poowuttikul P, Secord EA. Persistent T cell lymphopenia: an algorithm for follow up care. J Allergy and Clinical Immunology. 2015[cited 2020 May 19];135(2):AB12. Available from: https://www.jacionline.org/article/S0091-6749(14)02753-5/fulltext doi: 10.1016/j.jaci.2014.12.972.
.7 Adeli MM, Buckley RH. Why newborn screening for severe combined immunodeficiency is essential: a case report. Pediatrics [Internet]. 2010[cited 2020 Jul 1];126(2):e465-9. Available from: https://pediatrics.aappublications.org/content/126/2/e465.long doi: 10.1542/peds.2009-3659.
.8 Bhatti H, Poowuttikul P, Secord E. Newborn TREC screening identified an infant with NHEJ1 heterozygous mutation leading to the diagnosis of atypical radiosensitive SCID. Annals of Allergy, Asthma and Immunology. 2014;113:А87.
.9 Albin S, Mehta H, Cunningham-Rundles C. Infants with idiopathic T cell lymphopenia identified on New York state newborn screen: a follow up report. J Allergy and Clinical Immunology [Internet]. 2014[cited 2020 May 3];133(2):AB93. Available from: https://www.jacionline.org/article/S0091-6749(13)02252-5/fulltext doi: 10.1016/j.jaci.2013.12.348.
.10 Aleem S, Phillips E, Henry T, Johnson C, Ferguson P, Rumelhart S. Newborn screening for severe combined immunodeficiency in Iowa: results of a one year pilot study. Annals of Allergy, Asthma and Immunology. 2014;113:A22.
.11 Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol [Internet]. 2011[cited 2020 Jul 8];2:54. Available from: https://www.frontiersin.org/articles/10.3389/fimmu.2011.00054/full doi: 10.3389/fimmu.2011.00054.
.12 Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol [Internet]. 2014[cited 2020 May 7];5:162. Available from: https://www.frontiersin.org/articles/10.3389/fimmu.2014.00162/full doi: 10.3389/fimmu.2014.00162.
.13 Amariglio N, Lev A, Simon A, Rosenthal E, Spirer Z, Efrati O, et al. Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency. Pediatr Res. 2010;67(2):211-6. doi: 10.1203/PDR.0b013e3181c6e554.
.14 Andreae DA, Albin S, Mehta H, Cunningham-Rundles C. Studies on cohort of infants with Di-George syndrome detected by New York state newborn screening for severe combined immunodeficiency (SCID). Journal of Allergy and Clinical Immunology [Internet]. 2014[cited 2020 May 28];133:AB96. Available from: https://www.jacionline.org/article/S0091-6749(13)02260-4/pdf.
.15 Andreae DA, Cunningham-Rundles C. Case of cartilage-hair hypoplasia detected by New York State newborn screening for severe combined immunodeficiency. Annals of Allergy, Asthma & Immunology. 2013;111:A96.
.16 Bornstein L, Herzog R. Lymphopenia and agammaglobulinemia of unclear etiology. Annals of Allergy, Asthma & Immunology. 2014;113:A77.
.17 Borte S, Fasth A, von Dobeln U, Winiarski J, Hammarstrom L. Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome. Clinical Immunology. 2014;155(1):74-8. doi: 10.1016/j.clim.2014.09.003.
.18 Borte S, Wang N, Oskarsdóttir S, von Döbeln U, Hammarström L. Newborn screening for primary immunodeficiencies: beyond SCID and XLA. Ann N Y Acad Sci. 2011;1246:118-30. doi: 10.1111/j.1749-6632.2011.06350.x.
.19 Ding Y, Thompson JD, Kobrynski L, Ojodu J, Zarbalian G, Grosse SD. Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State. J Pediatr. 2016;172:127-35. doi: 10.1016/j.jpeds.2016.01.029.
.20 Greemberg C, Herzog R. A call for an early clinical consideration for ataxia-telangiectasia in infants with low TREC and combined immunodeficiency. J Allergy Clin Immunol [Internet]. 2016[cited 2020 Jul 1];137:AB216. Available from: https://www.jacionline.org/pb/assets/raw/Health%20Advance/journals/ymai/AAAAI_2016_Abstracts_Monday_March_7.pdf
.21 Mustillo P, Hage R, Redmond M. Resolution of T cell lymphopenia in a term infant with absent TRECs on newborn screen. J Allergy Clin Immunol [Internet]. 2016[cited 2020 Jul 1];137:AB216. Available from: https://www.jacionline.org/pb/assets/raw/Health%20Advance/journals/ymai/AAAAI_2016_Abstracts_Monday_March_7.pdf
.22 Kanegae MP, Barreiros LA, Mazzucchelli JT, Hadachi SM, de Figueiredo Ferreira Guilhoto LM, Acquesta AL, et al. Neonatal screening for severe combined immunodeficiency in Brazil. J Pediatr (Rio J). 2016;92(4):374-80. doi: 10.1016/j.jped.2015.10.006.
.23 Tam JS, Gonzaga KA, Hintermeyer MK, Verbsky JW, Casper JT, Routes JM. Complete DiGeorge syndrome detected by newborn screening for T-cell Receptor excision circles (TRECs). Journal of Clinical Immunology [Internet]. 2012[cited 2020 May 10];32:386-7. Available from: https://www.researchgate.net/publication/296843071_Complete_DiGeorge_Syndrome_Detected_by_Newborn_Screening_for_T-Cell_Receptor_Excision_Circles_TRECs
Copyright (c) 2020 T.V. Hariyan, O.R. Boyarchuk, N.M. Yarema, L.A. Volianska, M.I. Kinash, L.M. Shulhay, I.B. Chornomydz

Ця робота ліцензована Creative Commons Attribution 4.0 International License.

Журнал «Неонатологія, хірургія та перинатальна медицина» ISSN 2413-4260 (Online), ISSN 2226-1230 (Print) This work is licensed under a Creative Commons Attribution 4.0 International License.