Article
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
The Journal of clinical investigation - 2 Nov 2015
Brehm Anja, Liu Yin, Sheikh Afzal, Marrero Bernadette, Omoyinmi Ebun, Zhou Qing, Montealegre Gina, Biancotto Angelique, Reinhardt Adam, Almeida de Jesus Adriana, Pelletier Martin, Tsai Wanxia L, Remmers Elaine F, Kardava Lela, Hill Suvimol, Kim Hanna, Lachmann Helen J, Megarbane Andre, Chae Jae Jin, Brady Jilian, Castillo Rhina D, Brown Diane, Casano Angel Vera, Gao Ling, Chapelle Dawn, Huang Yan, Stone Deborah, Chen Yongqing, Sotzny Franziska, Lee Chyi-Chia Richard, Kastner Daniel L, Torrelo Antonio, Zlotogorski Abraham, Moir Susan, Gadina Massimo, McCoy Phil, Wesley Robert, Rother Kristina I, Rother Kristina, Hildebrand Peter W, Brogan Paul, Krüger Elke, Aksentijevich Ivona, Goldbach-Mansky Raphaela
Abstract excerpt
Autosomal recessive mutations in proteasome subunit β 8 (PSMB8), which encodes the inducible proteasome subunit β5i, cause the immune-dysregulatory disease chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), which is classified as a proteasome-associated autoinflammatory syndrome (PRAAS). Here, we identified 8 mutations in 4 proteasome genes, PSMA3 (encodes α7), PSMB4...
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