Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy (GT), it is important to link SCID phenotype to the underlying genetic disease. In western countries, X-linked interleukin 2 receptor gamma chain (IL2RG) and adenosine deaminase (ADA...

Descripción completa

Detalles Bibliográficos
Autores principales: Purswani, Pooja, Meehan, Cristina Adelia, Kuehn, Hye Sun, Chang, Yenhui, Dasso, Joseph F., Meyer, Anna K., Ujhazi, Boglarka, Csomos, Krisztian, Lindsay, David, Alberdi, Taylor, Joychan, Sonia, Trotter, Jessica, Duff, Carla, Ellison, Maryssa, Bleesing, Jack, Kumanovics, Attila, Comeau, Anne M., Hale, Jaime E., Notarangelo, Luigi D., Torgersen, Troy R., Ochs, Hans D., Sriaroon, Panida, Oshrine, Benjamin, Petrovic, Aleksandra, Rosenzweig, Sergio D., Leiding, Jennifer W., Walter, Jolan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460992/
https://www.ncbi.nlm.nih.gov/pubmed/31024866
http://dx.doi.org/10.3389/fped.2019.00055

Ejemplares similares

Ejemplares similares