Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma

The T-cell receptor excision circle (TREC) assay detects T-cell lymphopenia (TCL) in newborns and is especially important to identify severe combined immunodeficiency (SCID). A spectrum of SCID variants and non-SCID conditions that present with TCL are being discovered with increasing frequency by n...

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Detalles Bibliográficos
Autores principales: Chitty-Lopez, Maria, Westermann-Clark, Emma, Dawson, Irina, Ujhazi, Boglarka, Csomos, Krisztian, Dobbs, Kerry, Le, Khuong, Yamazaki, Yasuhiro, Sadighi Akha, Amir A., Chellapandian, Deepak, Oshrine, Ben, Notarangelo, Luigi D., Sunkersett, Gauri, Leiding, Jennifer W., Walter, Jolan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552884/
https://www.ncbi.nlm.nih.gov/pubmed/33117328
http://dx.doi.org/10.3389/fimmu.2020.01954

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552884/
https://www.ncbi.nlm.nih.gov/pubmed/33117328
http://dx.doi.org/10.3389/fimmu.2020.01954

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