Abstract
PAPA syndrome is a very rare autoinflammatory condition. Few data are nowadays available about the clinical characteristic, the response to treatment and the outcome of this disease.
Highlights
PAPA syndrome is a very rare autoinflammatory condition
The patients were included in the study in the presence of clinical manifestations consistent with PAPA syndrome and mutations in the PSTPIP1 gene
In February 2013 baseline and clinical information were available of 2567 patients from 88 centers in the Eurofever registry. Of these 16 patients PAPA patients (M:F = 8:8), from 3 different centers, fulfilled the inclusion criteria and were analysed: 10 were of the same family, in 3 patients the disease was caused by a de novo mutation while in 3 cases the mutation was found in one parent
Summary
PAPA syndrome is a very rare autoinflammatory condition. Few data are nowadays available about the clinical characteristic, the response to treatment and the outcome of this disease. PW02-009 - PAPA syndrome: results from the Euroefever registry Introduction PAPA syndrome is a very rare autoinflammatory condition. Few data are nowadays available about the clinical characteristic, the response to treatment and the outcome of this disease.
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