Chromothriptic Cure of WHIM Syndrome

Chromothripsis is a catastrophic cellular event recently described in cancer in which chromosomes undergo massive deletion and rearrangement. Here we report a case in which chromothripsis spontaneously cured a patient with WHIM syndrome, an autosomal dominant combined immunodeficiency disease caused...

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Publié dans:Cell
Auteurs principaux: McDermott, David H., Gao, Ji-Liang, Liu, Qian, Siwicki, Marie, Martens, Craig, Jacobs, Paejonette, Velez, Daniel, Yim, Erin, Bryke, Christine R., Hsu, Nancy, Dai, Zunyan, Marquesen, Martha M., Stregevsky, Elina, Kwatemaa, Nana, Theobald, Narda, Long Priel, Debra A., Pittaluga, Stefania, Raffeld, Mark A., Calvo, Katherine R., Maric, Irina, Desmond, Ronan, Holmes, Kevin L., Kuhns, Douglas B., Balabanian, Karl, Bachelerie, Françoise, Porcella, Stephen F., Malech, Harry L., Murphy, Philip M.
Format: Artigo
Langue:Inglês
Publié: 2015
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4329071/
https://ncbi.nlm.nih.gov/pubmed/25662009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2015.01.014
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