Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía

Background: Quantification of T-cell-receptor-excision circles (TRECs) and kappa-deleting-recombination-excision circles (KRECs) from dried blood spots (DBS) allows detection of neonates with severe T-cell and/or B-cell lymphopenia that are potentially affected by severe combined immunodeficiency (S...

ver descrição completa

Detalhes bibliográficos
Autores: Felipe, Beatriz de, Olbrich, Peter, Goycochea-Valdivia, WA, Delgado Pecellín, Carmen, Sánchez Moreno, Paula, Sánchez Sánchez, Berta, Lucena Soto, José Manuel, Ferrari Cortés, Araceli, Salguero Martín de Soto, Josefa
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2017
País:España
Recursos:Universidad de Sevilla (US)
Repositorio:idUS. Depósito de Investigación de la Universidad de Sevilla
OAI Identifier:oai:idus.us.es:11441/69189
Acesso em linha:https://hdl.handle.net/11441/69189
https://doi.org/10.3390/ijns3040027
Access Level:acceso abierto
Palavra-chave:newborn screening
primary immunodeficiencies
TRECS
KRECS
id ES_f7bc664693ca5cd950e0d0b34a9b478d
oai_identifier_str oai:idus.us.es:11441/69189
network_acronym_str ES
network_name_str España
repository_id_str
spelling Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in AndalucíaFelipe, Beatriz deOlbrich, PeterGoycochea-Valdivia, WADelgado Pecellín, CarmenSánchez Moreno, PaulaSánchez Sánchez, BertaLucena Soto, José ManuelFerrari Cortés, AraceliSalguero Martín de Soto, Josefanewborn screeningprimary immunodeficienciesTRECSKRECSBackground: Quantification of T-cell-receptor-excision circles (TRECs) and kappa-deleting-recombination-excision circles (KRECs) from dried blood spots (DBS) allows detection of neonates with severe T-cell and/or B-cell lymphopenia that are potentially affected by severe combined immunodeficiency (SCID), as well as X-linked agammaglobulinemia (XLA). Methods: Determination of TRECs and KRECs using a triplex RT-PCR (TRECS-KRECS-β-actin) assay from prospectively collected DBS between February 2014 and December 2016 in three hospitals in Seville, Spain. Cut-off levels were TRECs < 6/punch, KRECs < 4/punch and b-actin > 700/punch. Internal (SCID, XLA, ataxia telangiectasia) and external controls (CDC) were included. Results: A total of 8943 DBS samples obtained from 8814 neonates were analysed. Re-punching was necessary in 124 samples (1.4%) due to insufficient β-actin values (<700 copies/punch). Preterm neonates (GA < 37 weeks) and neonates with a BW < 2500 g showed significantly lower TRECs and KRECs levels (p < 0.001). Due to repeated pathological results, ten neonates were re-sampled (0.11%), of which five neonates (0.055%) confirmed the pathological results: one case was a fatal chromosomopathy (TRECs 1/KRECs 4); two were extreme premature newborns (TRECs 0/KRECs 0 and TRECs 1/KRECs 20 copies/punch); and 2 neonates were born to mothers receiving azathioprine during pregnancy (TRECs 92/KRECs 1 and TRECs 154/KRECs 3 copies/punch). All controls were correctly identified. Conclusions: Severe T- and B-cell lymphopenias were correctly identified by the TRECS-KRECS-β-actin assay. Prematurity and low BW are associated with lower TREC and KREC levels. Extreme prematurity and maternal immune suppressive therapy can cause false positive results of TRECs and KRECs values.Fondo de Investigaciones Sanitarias (FIS), Instituto de Salud Carlos III PI13/01104Ayudas para contratos de formación en Investigación Rio Hortega. Instituto de Salud Carlos IIIMDPICTS-197: Servicio de InmunologíaInstituto de Salud Carlos III2017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttps://hdl.handle.net/11441/69189https://doi.org/10.3390/ijns3040027reponame:idUS. Depósito de Investigación de la Universidad de Sevillainstname:Universidad de Sevilla (US)InglésInternational Journal of Neonatal Screening, 3 (4), 1-10.info:eu-repo/semantics/openAccessoai:idus.us.es:11441/691892026-06-17T12:51:07Z
dc.title.none.fl_str_mv Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía
title Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía
spellingShingle Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía
Felipe, Beatriz de
newborn screening
primary immunodeficiencies
TRECS
KRECS
title_short Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía
title_full Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía
title_fullStr Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía
title_full_unstemmed Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía
title_sort Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía
dc.creator.none.fl_str_mv Felipe, Beatriz de
Olbrich, Peter
Goycochea-Valdivia, WA
Delgado Pecellín, Carmen
Sánchez Moreno, Paula
Sánchez Sánchez, Berta
Lucena Soto, José Manuel
Ferrari Cortés, Araceli
Salguero Martín de Soto, Josefa
author Felipe, Beatriz de
author_facet Felipe, Beatriz de
Olbrich, Peter
Goycochea-Valdivia, WA
Delgado Pecellín, Carmen
Sánchez Moreno, Paula
Sánchez Sánchez, Berta
Lucena Soto, José Manuel
Ferrari Cortés, Araceli
Salguero Martín de Soto, Josefa
author_role author
author2 Olbrich, Peter
Goycochea-Valdivia, WA
Delgado Pecellín, Carmen
Sánchez Moreno, Paula
Sánchez Sánchez, Berta
Lucena Soto, José Manuel
Ferrari Cortés, Araceli
Salguero Martín de Soto, Josefa
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv CTS-197: Servicio de Inmunología
Instituto de Salud Carlos III
dc.subject.none.fl_str_mv newborn screening
primary immunodeficiencies
TRECS
KRECS
topic newborn screening
primary immunodeficiencies
TRECS
KRECS
description Background: Quantification of T-cell-receptor-excision circles (TRECs) and kappa-deleting-recombination-excision circles (KRECs) from dried blood spots (DBS) allows detection of neonates with severe T-cell and/or B-cell lymphopenia that are potentially affected by severe combined immunodeficiency (SCID), as well as X-linked agammaglobulinemia (XLA). Methods: Determination of TRECs and KRECs using a triplex RT-PCR (TRECS-KRECS-β-actin) assay from prospectively collected DBS between February 2014 and December 2016 in three hospitals in Seville, Spain. Cut-off levels were TRECs < 6/punch, KRECs < 4/punch and b-actin > 700/punch. Internal (SCID, XLA, ataxia telangiectasia) and external controls (CDC) were included. Results: A total of 8943 DBS samples obtained from 8814 neonates were analysed. Re-punching was necessary in 124 samples (1.4%) due to insufficient β-actin values (<700 copies/punch). Preterm neonates (GA < 37 weeks) and neonates with a BW < 2500 g showed significantly lower TRECs and KRECs levels (p < 0.001). Due to repeated pathological results, ten neonates were re-sampled (0.11%), of which five neonates (0.055%) confirmed the pathological results: one case was a fatal chromosomopathy (TRECs 1/KRECs 4); two were extreme premature newborns (TRECs 0/KRECs 0 and TRECs 1/KRECs 20 copies/punch); and 2 neonates were born to mothers receiving azathioprine during pregnancy (TRECs 92/KRECs 1 and TRECs 154/KRECs 3 copies/punch). All controls were correctly identified. Conclusions: Severe T- and B-cell lymphopenias were correctly identified by the TRECS-KRECS-β-actin assay. Prematurity and low BW are associated with lower TREC and KREC levels. Extreme prematurity and maternal immune suppressive therapy can cause false positive results of TRECs and KRECs values.
publishDate 2017
dc.date.none.fl_str_mv 2017
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11441/69189
https://doi.org/10.3390/ijns3040027
url https://hdl.handle.net/11441/69189
https://doi.org/10.3390/ijns3040027
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv International Journal of Neonatal Screening, 3 (4), 1-10.
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:idUS. Depósito de Investigación de la Universidad de Sevilla
instname:Universidad de Sevilla (US)
instname_str Universidad de Sevilla (US)
reponame_str idUS. Depósito de Investigación de la Universidad de Sevilla
collection idUS. Depósito de Investigación de la Universidad de Sevilla
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869424910822014976
score 15.301603

Registos relacionados