{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:05:45Z","timestamp":1787069145084,"version":"build-2736575974"},"reference-count":38,"publisher":"Instituto Nacional de Salud (Colombia)","issue":"Sp. 2","license":[{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T00:00:00Z","timestamp":1734912000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["revistabiomedica.org"],"crossmark-restriction":false},"short-container-title":["Biomed."],"abstract":"<jats:p>Introducci\u00f3n. La detecci\u00f3n temprana de linfopenias cong\u00e9nitas facilitar\u00eda su tratamiento oportuno y la prevenci\u00f3n de complicaciones serias, y optimizar\u00eda los recursos del sistema de salud.Objetivo. Realizar un estudio piloto para el tamizaje neonatal de linfopenias mediante la cuantificaci\u00f3n de los c\u00edrculos de escisi\u00f3n (TREC y KREC) de los receptores de los linfocitos T y B en muestras de sangre perif\u00e9rica de neonatos de Medell\u00edn, Colombia.Materiales y m\u00e9todos. Se recolectaron muestras de 1.092 neonatos y de seis pacientes con sospecha de linfopenia, mediante pinchazo del tal\u00f3n o del dedo gordo del pie. Se extrajo el ADN y se midieron los niveles de TREC y KREC por qPCR. Resultados. En los seis pacientes con sospecha de linfopenia se encontraron niveles muy bajos o indetectables de TREC. Todos los neonatos tamizados presentaron niveles normales de TREC y KREC. Se observ\u00f3 concordancia entre los valores de TREC o de KREC en dos tipos diferentes de papel de filtro. Los niveles de TREC y KREC disminuyeron considerablemente despu\u00e9s de 24 semanas de almacenamiento de las muestras de sangre en papel de filtro. Se encontr\u00f3 una asociaci\u00f3n positiva entre los niveles de los TREC y el peso al nacer, y una correlaci\u00f3n negativa entre los KREC y la edad gestacional. Los niveles de estos marcadores no se asociaron con el tipo de parto.Conclusiones. Se presenta el primer estudio piloto para el tamizaje temprano de linfopenias cong\u00e9nitas en neonatos en Colombia. Se propone el uso de un l\u00edmite de detecci\u00f3n de 119 y 69 copias\/\u03bcl de sangre de TREC y KREC, respectivamente, para futuros programas de detecci\u00f3n neonatal de linfopenias en el pa\u00eds.<\/jats:p>","DOI":"10.7705\/biomedica.7568","type":"journal-article","created":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T15:50:52Z","timestamp":1736437852000},"page":"94-106","update-policy":"https:\/\/doi.org\/10.7705\/crossmark","source":"Crossref","is-referenced-by-count":1,"title":["Primer estudio piloto para el tamizaje neonatal de linfopenias T y B en Colombia","First pilot study for newborn screening of severe T and B lymphopenias in Colombia"],"prefix":"10.7705","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1576-595X","authenticated-orcid":false,"given":"Sebasti\u00e1n","family":"Guti\u00e9rrez-Hincapi\u00e9","sequence":"first","affiliation":[{"name":"Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medell\u00edn, Colombia"},{"name":"Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medell\u00edn, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4280-5627","authenticated-orcid":false,"given":"Carlos","family":"Muskus-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Programa de Estudio y Control en Enfermedades Tropicales \u2013 PECET, Universidad de Antioquia, Medell\u00edn, Colombia"},{"name":"Programa de Estudio y Control en Enfermedades Tropicales \u2013 PECET, Universidad de Antioquia, Medell\u00edn, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1415-0785","authenticated-orcid":false,"given":"Isaura Pilar","family":"S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medell\u00edn, Colombia; Grupo de Investigaciones Biom\u00e9dicas UniRemington, Facultad de Ciencias de la Salud, Corporaci\u00f3n Universitaria Remington, Medell\u00edn, Colombia"},{"name":"Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medell\u00edn, Colombia; Grupo de Investigaciones Biom\u00e9dicas UniRemington, Facultad de Ciencias de la Salud, Corporaci\u00f3n Universitaria Remington, Medell\u00edn, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5664-6415","authenticated-orcid":false,"given":"Jos\u00e9 Luis","family":"Franco-Restrepo","sequence":"additional","affiliation":[{"name":"Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medell\u00edn, Colombia"},{"name":"Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medell\u00edn, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8546-2666","authenticated-orcid":false,"given":"Claudia M.","family":"Trujillo-Vargas","sequence":"additional","affiliation":[{"name":"Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medell\u00edn, Colombia"},{"name":"Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medell\u00edn, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4444","published-online":{"date-parts":[[2024,12,23]]},"reference":[{"key":"141880","doi-asserted-by":"crossref","unstructured":"Bousfiha AA, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova JL, et al. 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