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: goldbacr@mail.nih.gov.
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.

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