Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome (CANDLE)/Proteasome-Associated Autoinflammatory Syndromes (PRAAS)-Reference-Cited by-同舟云学术

Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome (CANDLE)/Proteasome-Associated Autoinflammatory Syndromes (PRAAS)

Published:2020 Issue: Volume: Page:156-161
ISSN:
Container-title:Encyclopedia of Medical Immunology
language:
Short-container-title:

Author:

Montealegre Sanchez Gina A.,de Jesus Adriana A.,Goldbach-Mansky Raphaela

Publisher

Springer New York

Link

http://link.springer.com/content/pdf/10.1007/978-1-4614-8678-7_129

Reference16 articles.

1. Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, et al. PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010;87(6):866–72.

2. Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci USA. 2011;108(36):14914–9.

3. Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2015;125(11):4196–211.

4. Buchbinder D, Montealegre Sanchez GA, Goldbach-Mansky R, Brunner H, Shulman AI. Rash, fever, and pulmonary hypertension in a 6-year-old female. Arthritis Care Res. 2018;70(5):785–90.

5. de Jesus AA, Brehm A, VanTries R, Pillet P, Parentelli AS, Montealegre Sanchez GA, et al. Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. The Journal of allergy and clinical immunology. 2019;143(5):1939–43 e8.

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