Novel Proteasome Assembly Chaperone mutations in PSMG2/PAC2, cause the autoinflammatory interferonopathy, CANDLE/PRAAS4

Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature (CANDLE) is a rare autoinflammatory interferonopathy caused by additive loss-of-function mutations in proteasome genes. Mutations in the proteasome chaperone, PSMG2/PAC2 are a novel cause of CANDLE.

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Allergy Clin Immunol
Prif Awduron: de Jesus, Adriana A., Brehm, Anja, VanTries, Rachel, Pillet, Pascal, Parentelli, Anne-Sophie, Montealegre Sanchez, Gina A., Deng, Zuoming, Paut, Isabelle Koné, Goldbach-Mansky, Raphaela, Krüger, Elke
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2019
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565382/
https://ncbi.nlm.nih.gov/pubmed/30664889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2018.12.1012
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