Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

The proteasome processes proteins to facilitate immune recognition and host defense. When inherently defective, it can lead to aberrant immunity resulting in a dysregulated response that can cause autoimmunity and/or autoinflammation. Biallelic or digenic loss-of-function variants in some of the pro...

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Pubblicato in:Am J Hum Genet
Autori principali: Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., Orange, Jordan S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5992134/
https://ncbi.nlm.nih.gov/pubmed/29805043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.04.010
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