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.

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Allergy Clin Immunol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
Soggetti:
Article
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi