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Título: | Fatal Pneumocystis jirovecii and Cytomegalovirus Infections in an Infant With Normal TRECs Count |
Otros títulos: | Pitfalls of Newborn Screening for Severe Combined Immunodeficiency | Autor: | Méndez-Echevarría, Ana; González-Granado, Luis; Allende, Luis; Felipe, Beatriz de CSIC ORCID; Rosal, Teresa del; Calvo, Cristina CSIC; Pérez-Martínez, Antonio; Ruiz-García, Raquel; Neth, Olaf CSIC ORCID | Fecha de publicación: | feb-2019 | Editor: | Lippincott Williams & Wilkins | Citación: | The Pediatric infectious disease journal 38(2): 157-160 (2019) | Resumen: | Newborn screening for severe combined immunodeficiency using T-cell receptor excision circles allows prompt diagnosis and initiation of supportive and curative therapy thereby reducing morbidity and mortality. However, profound combined immunodeficiencies with normal numbers of nonfunctional T cells will go undetected. We present a patient with calcium release-activated calcium channel gene (ORAI1) deficiency and normal T-cell receptor excision circle numbers observed after diagnosis at the age of 14 months who suffered from disseminated fatal cytomegalovirus and Pneumocystis jirovecii infection, demonstrating a potential pitfall of the current newborn screening program. | Versión del editor: | http://dx.doi.org/10.1097/INF.0000000000002058 | URI: | http://hdl.handle.net/10261/205184 | DOI: | 10.1097/INF.0000000000002058 | ISSN: | 0891-3668 | E-ISSN: | 1532-0987 |
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