Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

Patients with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC) generate few isotype-switched B cells with severely decreased frequencies of somatic hypermutations (SHMs), but their underlying molecular defects remain poorly characterized. We identified a CVID+AIC pati...

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Veröffentlicht in:J Clin Invest
Hauptverfasser: Kuhny, Marcel, Forbes, Lisa R., Çakan, Elif, Vega-Loza, Andrea, Kostiuk, Valentyna, Dinesh, Ravi K., Glauzy, Salomé, Stray-Pedersen, Asbjorg, Pezzi, Ashley E., Hanson, I. Celine, Vargas-Hernandez, Alexander, Xu, Mina LuQuing, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Chinn, Ivan K., Schatz, David G., Orange, Jordan S., Meffre, Eric
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2020
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7410074/
https://ncbi.nlm.nih.gov/pubmed/32484799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI131297
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