Article
Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes.
The Journal of rheumatology - 1 Feb 2010
Hurtado-Nedelec Margarita, Chollet-Martin Sylvie, Chapeton Diana, Hugot Jean-Pierre, Hayem Gilles, Gérard Bénédicte
Abstract excerpt
OBJECTIVE: The SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is a rare disorder that mainly affects bone and skin. Chronic multifocal osteitis is the main diagnostic feature. Genetic studies of HLA genes have shown no role for these class II antigens, whereas studies of 2 mouse models (cmo and Lupo) point to a role of the PSTPIP2 gene. We analyzed the PSTPIP2 gene in patients with SAPHO...
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