Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy

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• 作者：Shaalee Dworski^a ; Ping Lu^c ; Aneal Khan^d ; Bruno Maranda^e ; John J. Mitchell^f ; ^g ; Rossella Parini^h ; Maja Di Roccoⁱ ; Boris Hugle^j ; Makoto Yoshimitsu^k ; Bo Magnusson^l ; Balahan Makay^m ; Nur Arslanⁿ ; Norberto Guelbert^o ; Karoline Ehlert^p ; Andrea Jarisch^q ; Janet Gardner-Medwin^r ; Rawane Dagher^s ; Maria Teresa Terreri^t ; Charles Marques Lorenco^u ; Lilianna Barillas-Arias^v ; Pranoot Tanpaiboon^w ; Alexander Solyom^x ; James S. Norris^c ; Xingxuan He^y ; Edward H. Schuchman^x ; ^y ; Thierry Levade^z ; Jeffrey A. Medin^a ; ^b ; ^aa ; ^ab ; ^{jmedin@mcw.edu}
• 关键词：AC ; acid ceramidase ; bFGF ; basic fibroblast growth factor ; Cer ; ceramide ; EDTA ; ethylenediaminetetraacetic acid ; EGF ; epidermal growth factor ; ERK ; extracellularly regulated kinases ; FD ; Farber disease ; G-CSF ; granulocyte colony-stimulating factor ; GM-CSF ; granulocyte macrophage colony-stimulating factor ; Het ; heterozygous ; HGF ; hepatocyte growth factor ; Hom ; homozygous ; HSCT ; hematopoietic stem cell transplantation ; IFNa ; interferon alpha ; IFNg ; interferon gamma ; IL ; interleukin ; IP-10 ; interfe
• 刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：1863
• 期：2
• 页码：386-394
• 全文大小：1309 K
• 卷排序：1863

文摘

Specific cytokines are elevated in the plasma of Farber mice and Farber patients. This set distinguishes Farber disease from Juvenile Idiopathic Arthritis. Treatment by bone marrow transplantation normalizes most of these cytokines. While macrophages are involved in FD, plasma chitotriosidase levels are low.