Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4

  • J Allergy Clin Immunol. 2019 May;143(5):1939-1943.e8. doi: 10.1016/j.jaci.2018.12.1012.
Adriana A de Jesus  1 ,  Anja Brehm  2 ,  Rachel VanTries  1 ,  Pascal Pillet  3 ,  Anne-Sophie Parentelli  3 ,  Gina A Montealegre Sanchez  1 ,  Zuoming Deng  4 ,  Isabelle Koné Paut  5 ,  Raphaela Goldbach-Mansky  6 ,  Elke Krüger  7
Affiliations
  • 1. Translational Autoinflammatory Diseases Section, LCIM, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • 2. Charité-Universitätsmedizin Berlin CCO Institut für Biochemie, Berlin, Germany.
  • 3. Urgences pédiatriques, Pédiatrie Générale Centre de compétence Arthrites Juvéniles Idiopathiques et Maladies Auto-inflammatoires de l'enfant, Hôpital Pellegrin-enfants, Bordeaux, France.
  • 4. Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Md.
  • 5. Centre de référence des maladies auto-inflammatoires CHU de Bicêtre, Paris, France.
  • 6. Translational Autoinflammatory Diseases Section, LCIM, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: [email protected].
  • 7. Charité-Universitätsmedizin Berlin CCO Institut für Biochemie, Berlin, Germany; Universitätsmedizin Greifswald Institute of Medical Biochemistry and Molekular Biology, Klinikum DZ7, Greifswald, Germany.
PMID: 30664889 DOI: 10.1016/j.jaci.2018.12.1012
Abstract

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.