Published in:
Open Access
01-11-2013 | Meeting abstract
PW03-024 - A transgenic mouse model for variant procaspase-1
Authors:
A Hermsdorf, F Pessler, H Luksch, S Winkler, R Naumann, J Roesler, A Roers, A Rösen-Wolff
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
We have detected several genetic variants of CASP1 in patients suffering from unexplained recurrent febrile episodes. Paradoxically, in vitro and in vivo analyses of patients’ cells revealed decreased enzymatic activity of these caspase-1 variants leading to impaired cytokine production despite the proinflammatory phenotype of the patients. The pathophysiological processes associated with CASP1 variants are still under investigation. …