Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas

The nuclease Artemis is essential for the development of T-cell and B-cell receptors and repair of DNA double-strand breaks, and a loss of expression or function will lead to a radiosensitive severe combined immunodeficiency with no functional T-cells or B-cells (T-B-SCID). Hypomorphic mutations in...

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Detalles Bibliográficos
Autores principales: Fevang, Børre, Fagerli, Unn Merete, Sorte, Hanne, Aarset, Harald, Hov, Håkon, Langmyr, Marit, Keil, Thomas Morten, Bjørge, Ellen, Aukrust, Pål, Stray-Pedersen, Asbjørg, Gedde-Dahl, Tobias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5977007/
https://www.ncbi.nlm.nih.gov/pubmed/29888014
http://dx.doi.org/10.1155/2018/2053716

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