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

Publication date: Available online 18 January 2019

Source: Journal of Allergy and Clinical Immunology

Author(s): Adriana A. de Jesus, Anja Brehm, Rachel VanTries, Pascal Pillet, Anne-Sophie Parentelli, Gina A. Montealegre Sanchez, Zuoming Deng, Isabelle Koné Paut, Raphaela Goldbach-Mansky, Elke Krüger

Summary

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.

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