Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4 - 04/05/19
Doi : 10.1016/j.jaci.2018.12.1012
Adriana A. de Jesus, MD, PhD a, Anja Brehm, PhD b, Rachel VanTries, BA a, Pascal Pillet, MD c, Anne-Sophie Parentelli, MD c, Gina A. Montealegre Sanchez, MD, MPH a, Zuoming Deng, PhD d, Isabelle Koné Paut, MD e, Raphaela Goldbach-Mansky, MD, MHS a 
, Elke Krüger, PhD b, f
, Elke Krüger, PhD b, f a Translational Autoinflammatory Diseases Section, LCIM, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md
b Charité-Universitätsmedizin Berlin CCO Institut für Biochemie, Berlin, Germany
c Urgences pédiatriques, Pédiatrie Générale Centre de compétence Arthrites Juvéniles Idiopathiques et Maladies Auto-inflammatoires de l'enfant, Hôpital Pellegrin-enfants, Bordeaux, France
d Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Md
e Centre de référence des maladies auto-inflammatoires CHU de Bicêtre, Paris, France
f Universitätsmedizin Greifswald Institute of Medical Biochemistry and Molekular Biology, Klinikum DZ7, Greifswald, Germany
| This work was supported by the Intramural Research Program of the National Institutes of Health, the National Institute of Allergy and Infectious Diseases, and the National Institute of Arthritis and Musculoskeletal and Skin Diseases and by grants of the DFG (grant nos. SFB740, SFBTR186, and SFBTR167 to E.K.) and the Fritz-Thyssen-Foundation (grant no. 10.16.2.022MN to E.K. and A.B.). |
|
| Disclosure of potential conflict of interest: R. Goldbach-Mansky has received grant support from SOBI, Regeneron, Novartis, and Eli Lilly. The rest of the authors declare that they have no relevant conflicts of interest. |
© 2019
American Academy of Allergy, Asthma & Immunology. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 143 - N° 5
P. 1939 - mai 2019 Retour au numéro
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