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Items: 2

Select item 46399871.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Anja Brehm, Yin Liu, Afzal Sheikh, Bernadette Marrero, Ebun Omoyinmi, Qing Zhou, Gina Montealegre, Angelique Biancotto, Adam Reinhardt, Adriana Almeida de Jesus, Martin Pelletier, Wanxia L. Tsai, Elaine F. Remmers, Lela Kardava, Suvimol Hill, Hanna Kim, Helen J. Lachmann, Andre Megarbane, Jae Jin Chae, Jilian Brady, Rhina D. Castillo, Diane Brown, Angel Vera Casano, Ling Gao, Dawn Chapelle, Yan Huang, Deborah Stone, Yongqing Chen, Franziska Sotzny, Chyi-Chia Richard Lee, Daniel L. Kastner, Antonio Torrelo, Abraham Zlotogorski, Susan Moir, Massimo Gadina, Phil McCoy, Robert Wesley, Kristina Rother, Peter W. Hildebrand, Paul Brogan, Elke Krüger, Ivona Aksentijevich, Raphaela Goldbach-Mansky

J Clin Invest. 2015 Nov 2; 125(11): 4196–4211. Published online 2015 Oct 20. doi: 10.1172/JCI81260

Correction in:: J Clin Invest. 2016 Feb 1; 126(2): 795.

PMCID:: PMC4639987

Abstract Article PDF–5.7M

Select item 32785542.

Mutations in PSMB8 Cause CANDLE Syndrome with Evidence of Genetic and Phenotypic Heterogeneity

Yin Liu, Yuval Ramot, Antonio Torrelo, Amy S. Paller, Nuo Si, Sofia Babay, Peter W. Kim, Afzal Sheikh, Chyi-Chia Richard Lee, Yongqing Chen, Angel Vera, Xue Zhang, Raphaela Goldbach-Mansky, Abraham Zlotogorski

Arthritis Rheum. Author manuscript; available in PMC 2013 Mar 1.

Published in final edited form as: Arthritis Rheum. 2012 Mar; 64(3): 895–907. doi: 10.1002/art.33368