Das PAPA-Syndrom ist eine autosomal dominante autoinflammatorische Erkrankung, die durch Mutationen im PSTPIP1-Gen hervorgerufen wird. Das Syndrom ist charakterisiert durch Pyogene Arthritis, Pyoderma gangraenosum und Akne.
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Yeon HB et al. (2000) Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. |
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Wise CA et al. (2002) Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. |
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Jacobs JC et al. (1975) "Streaking leukocyte factor," arthritis, and pyoderma gangrenosum. |
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Lindor NM et al. (1997) A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. |
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Wise CA et al. (2000) Localization of a gene for familial recurrent arthritis. |