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Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency

Newborn screening for severe combined immunodeficiency (SCID) has not only accelerated diagnosis and improved treatment for affected infants, but also led to identification of novel genes required for human T cell development. A male proband had SCID newborn screening showing very low T cell recepto...

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Detalles Bibliográficos
Autores principales: Sertori, Robert, Lin, Jian-Xin, Martinez, Esteban, Rana, Sadhna, Sharo, Andrew, Kazemian, Majid, Sunderam, Uma, Andrake, Mark, Shinton, Susan, Truong, Billy, Dunbrack, Roland M., Liu, Chengyu, Srinivasan, Rajgopol, Brenner, Steven E., Seroogy, Christine M., Puck, Jennifer M., Leonard, Warren J., Wiest, David L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9372720/
https://www.ncbi.nlm.nih.gov/pubmed/35967429
http://dx.doi.org/10.3389/fimmu.2022.928252