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T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication

Newborn screening for severe combined immunodeficiency has proven successful in identifying infants with T-cell deficiencies before they become severely ill. Additionally, the newborn screen can detect subtle early phenotypes that may become severe later in life. We present the case of siblings with...

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Detalles Bibliográficos
Autores principales: Rios, Xavier, Chinn, Ivan K., Orange, Jordan S., Hanson, Celine I., Rider, Nicholas L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5513981/
https://www.ncbi.nlm.nih.gov/pubmed/28770187
http://dx.doi.org/10.3389/fped.2017.00156