Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus
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- 作者：Jie An ; Tracy A. Briggs ; Audrey Dumax-Vorzet ; Marta E. Alarcó ; n-Riquelme ; Alexandre Belot ; Michael Beresford ; Ian N. Bruce ; Claudia Carvalho ; Laurence Chaperot ; Johan Frostegå ; rd ; Joel Plumas ; Gillian I. Rice ; Timothy J. Vyse ; Alice Wiedeman ; Yanick J. Crow and Keith B. Elkon
- 刊名：Arthritis & Rheumatism
- 出版年：2017
- 出版时间：January 2017
- 年：2017
- 卷：69
- 期：1
- 页码：131-142
- 全文大小：769K
- ISSN：1529-0131
文摘
Mutations in the ACP5 gene, which encodes tartrate-resistant acid phosphatase (TRAP), cause the immuno-osseous disorder spondyloenchondrodysplasia, which includes as disease features systemic lupus erythematosus (SLE) and a type I interferon (IFN) signature. Our aims were to identify TRAP substrates, determine the consequences of TRAP deficiency in immune cells, and assess whether ACP5 mutations are enriched in sporadic cases of SLE.