Neonatal screening for severe combined immunodeficiency syndrome
DOI:
https://doi.org/10.33448/rsd-v11i11.33572Keywords:
Severe Combined Immunodeficiency; Neonatal Screening; Child Health; Child health.Abstract
Severe combined immunodeficiency (SCID), also known as “bubble boy disease” is a serious defect in cellular and humoral immunity that makes children susceptible to infections. Its diagnosis is made through Neonatal Screening, and in Brazil it is done by the foot test. The treatment is based on the Hematopoietic Stem Cell Treatment (HSCT). Late diagnosis or lack of treatment can cause sequelae or death. Therefore, it is important to implement newborn screening to detect cases of SCID early to avoid irreversible damage. Therefore, the objective of this review is to evaluate neonatal screening for severe combined immunodeficiency and its contribution to carriers. This is a systematic literature review approved by the PROSPERO platform under number CDR42020206341, carried out in MEDLINE, LILACS, in English, Portuguese and Spanish, to be reviewed by two independent authors. Randomized and non-randomized clinical trials, case-control trials, cohort studies and cross-sectional studies in the last five years will be included. After the combined search and application of the inclusion and exclusion criteria, 12 articles were selected to compose the final sample. Neonatal screening is performed by different methods around the world, however, regardless of how it is done, it is possible to note its importance within the health of neonates. The ease of collection contributes to quality care, and the information offered during prenatal care ensures that parents are aware of the need to perform the exam to identify early pathologies that can cause sequelae and even deaths.
References
Albin-Leeds, S., Ochoa, J., Mehta, H., Vogel, B. H., Caggana, M., Bonagura, V., & Cunningham-Rundles, C. (2017). Idiopathic T cell lymphopenia identified in New York state newborn screening. Clinical Immunology, 183, 36-40.
Argudo-Ramírez, A., Martín-Nalda, A., Marín-Soria, J. L., López-Galera, R. M., Pajares-García, S., González de Aledo-Castillo, J. M., & Soler-Palacín, P. (2019). First universal newborn screening program for severe combined immunodeficiency in Europe. Two-years' experience in Catalonia (Spain). Frontiers in immunology, 10, 2406.
Barreiros, L. A. (2018). Investigação genético-molecular de pacientes com imunodeficiência combinada grave (Doctoral dissertation, Universidade de São Paulo).
Barry, J. C., Crowley, T. B., Jyonouchi, S., Heimall, J., Zackai, E. H., Sullivan, K. E., & McDonald-McGinn, D. M. (2017). Identification of 22q11. 2 deletion syndrome via newborn screening for severe combined immunodeficiency. Journal of Clinical Immunology, 37(5), 476-485.
Dantas, E. O., Alves, F. P., Marques, A. P., & Grumach, A. S. (1992). Imunodeficiencia combinada severa. Rev. med.(Säo Paulo), 116-21.
de Lima, H. F. M., Debona, L. A., & Dias, T. R. (2020). Triagem Neonatal para Imunodeficiência Primária na Saúde Pública Brasileira: primeiros passos. Brazilian Journal of Development, 6(12), 94986-94996.
Fullerton, B. S., Velazco, C. S., Hong, C. R., Carey, A. N., & Jaksic, T. (2018). High rates of positive severe combined immunodeficiency screening among newborns with severe intestinal failure. Journal of Parenteral and Enteral Nutrition, 42(1), 239-246.
Heimall, J., & Cowan, M. J. (2017). Long term outcomes of severe combined immunodeficiency: therapy implications. Expert review of clinical immunology, 13(11), 1029-1040.
Heimall, J., Logan, B. R., Cowan, M. J., Notarangelo, L. D., Griffith, L. M., Puck, J. M., ... & Dvorak, C. C. (2017). Immune reconstitution and survival of 100 SCID patients post–hematopoietic cell transplant: a PIDTC natural history study. Blood, The Journal of the American Society of Hematology, 130(25), 2718-2727.
Kanegae, M. P. P., Barreiros, L. A., Mazzucchelli, J. T. L., Hadachi, S. M., Guilhoto, L. M. D. F. F., Acquesta, A. L., & Condino-Neto, A. (2016). Triagem neonatal para imunodeficiência combinada grave no Brasil. Jornal de Pediatria, 92, 374-380.
Kanegae, M. P., dos Santos, A. M., Cavalcanti, C. M., & Condino-Neto, A. (2011). Triagem neonatal para imunodeficiencia combinada grave. Rev bras alerg imunopatol, 34, 7-11.
Kwok, J. S., Cheung, S. K., Ho, J. C., Tang, I. W., Chu, P. W., Leung, E. Y., & Lau, Y. L. (2020). Establishing simultaneous T cell receptor excision circles (TREC) and K-deleting recombination excision circles (KREC) quantification assays and laboratory reference intervals in healthy individuals of different age groups in Hong Kong. Frontiers in immunology, 11, 1411.
Liao, H. C., Liao, C. H., Kao, S. M., Chiang, C. C., & Chen, Y. J. (2019). Detecting 22q11. 2 deletion syndrome in newborns with low T cell receptor excision circles from severe combined immunodeficiency screening. The Journal of Pediatrics, 204, 219-224.
Mandola, A. B., Reid, B., Sirror, R., Brager, R., Dent, P., Chakroborty, P., & Roifman, C. M. (2019). Ataxia telangiectasia diagnosed on newborn screening–case cohort of 5 years' experience. Frontiers in Immunology, 10, 2940.
Mazzucchelli, J. T. L. (2012). Imunodeficiência Combinada Grave no Brasil.
Meehan, C. A., Bonfim, C., Dasso, J. F., Costa-Carvalho, B. T., Condino-Neto, A., & Walter, J. E. (2018). In time: importância e implicações globais datriagem neonatal para a imunodeficiência grave combinada. Revista Paulista de Pediatria, 36, 388-397.
Pfisterer, J. C., Martini, S. V., Errante, P. R., & Frazao, J. B. (2014). Imunodeficiência combinada grave: uma revisão da literatura. Arquivos de Asma, Alergia e Imunologia, 2(2), 56-65.
Richards, S., Pitt, J., & Choo, S. (2018). Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T‐cell receptor excision circle‐based method in Victorian dried blood spots. Journal of Paediatrics and Child Health, 54(1), 14-19.
Thomas, C., Durand-Zaleski, I., Frenkiel, J., Mirallié, S., Léger, A., Cheillan, D., & Audrain, M. (2019). Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results. Clinical Immunology, 202, 33-39.
Vidal-Folch, N., Milosevic, D., Majumdar, R., Gavrilov, D., Matern, D., Raymond, K., & Oglesbee, D. (2017). A droplet digital PCR method for severe combined immunodeficiency newborn screening. The Journal of Molecular Diagnostics, 19(5), 755-765.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2022 Vitoria Vilas Boas da Silva Bomfim; Paulo da Costa Araújo; Lisiane Madalena Treptow; Emanuel Osvaldo de Sousa; Célio Pereira de Sousa Júnior; Débora Fernandes Barros Cabral; Bruna Raquel Luna Pedroso Santos; Carolina Marques Ribeiro Pessoa; Deborah Regina Cavalcante da Silva; Guilherme de Andrade Ruela
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
