Abstracts Accepted for Publication 2017
DOI: 10.1136/annrheumdis-2017-eular.3986
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AB0995 Clinical, therapeutic, and genetic analyses in a patient with papa syndrome complicated with inflammatory bowel disease

Abstract: BackgroundPAPA syndrome is an autoinflammatory disease linked to mutations in the PSTPIP1 gene [1]. These mutations produce a hyper-phosphorylated PSTPIP1 protein and alter its participation in the activation of the “inflammasome” [2]. PAPA syndrome is characterized by pyogenic arthritis with pyoderma gangrenosum and acne, and ususally treated with corticosteroids. Reports from the literature suggest that patients with poorly controlled PAPA syndrome may benefit from IL-1 blockade [2]; however, we cannot use t… Show more

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