Article
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.
Arthritis & rheumatology (Hoboken, N.J.) - 1 Jan 2017
An Jie, Briggs Tracy A, Dumax-Vorzet Audrey, Alarcón-Riquelme Marta E, Belot Alexandre, Beresford Michael, Bruce Ian N, Carvalho Claudia, Chaperot Laurence, Frostegård Johan, Plumas Joel, Rice Gillian I, Vyse Timothy J, Wiedeman Alice, Crow Yanick J, Elkon Keith B
Abstract excerpt
OBJECTIVE: 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...
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