Abstract
Background Hyperzincaemia and hypercalprotectinaemia, a rare condition within the spectrum of autoinflammatory diseases, is associated with recurrent infections, hepatosplenomegaly, arthritis, anemia, cutaneous inflammation, and failure to thrive. So far, no genetic cause has been identified in these patients. While the clinical appearance is heterogeneous, all affected individuals present with extremely elevated S100A8/S100A9 (calprotectin) serum concentrations (0.9-12.0 g/l (normal range < 0.001 g/l)). Aim The clinical phenotype of 8 patients was characterized. Screening of candidate genes PSTPIP1 and MEFV was performed in 7 hyperzincaemia and hypercalprotectinaemia patients to identify disease-causing mutations. Methods Serum concentrations of S100A8/S100A9 were analyzed by an ELISA assay in 8 patients with hyperzincaemia and hypercalprotectinaemia and compared to PAPA patients with and without treatment. Candidate exons were amplified by PCR and sequenced on an ABI 3130 Genetic Analyzer. Results
Highlights
Hyperzincaemia and hypercalprotectinaemia, a rare condition within the spectrum of autoinflammatory diseases, is associated with recurrent infections, hepatosplenomegaly, arthritis, anemia, cutaneous inflammation, and failure to thrive
A novel mutatioin in the PSTPIP1 gene is associated with an autoinflammatory disease distinct from classical PAPA syndrome
Serum concentrations of S100A8/S100A9 were analyzed by an ELISA assay in 8 patients with hyperzincaemia and hypercalprotectinaemia and compared to PAPA patients with and without treatment
Summary
A novel mutatioin in the PSTPIP1 gene is associated with an autoinflammatory disease distinct from classical PAPA syndrome. D Holzinger1*, J Austermann, P Lohse, I Aksentijevich, S Holland, M Gattorno, C Rodríguez-Gallego, S Fessatou, B Isidor, S Tokio, J Bernstein, B Sampson, C Sunderkoetter, J Roth. From 18th Pediatric Rheumatology European Society (PReS) Congress Bruges, Belgium. From 18th Pediatric Rheumatology European Society (PReS) Congress Bruges, Belgium. 14-18 September 2011
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