Proteasome-associated autoinflammatory syndrome
Definition:
References:
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[1]. Adriana A de Jesus, et al. 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. [Content Brief]
[2]. Anja Brehm, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2015 Nov 2;125(11):4196-211. [Content Brief]
[3]. Guillaume Sarrabay, et al. PSMB10, the last immunoproteasome gene missing for PRAAS. J Allergy Clin Immunol. 2020 Mar;145(3):1015-1017.e6. [Content Brief]
[4]. Kazuhiko Arima, 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 U S A. 2011 Sep 6;108(36):14914-9. [Content Brief]
[5]. M Cecilia Poli, et al. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. [Content Brief]
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