Published in:
Open Access
01-11-2013 | Meeting abstract
PW02-033 - Cytokine profile in CSF in CAPS patients
Authors:
E Schuh, P Lohse, M Frankenberger, I Meinl, T Kuempfel
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
CAPS is a rare autoinflammatory syndrome caused by autosomal dominant mutations in the NLRP3/CIAS 1 gene on chromosome 1q44 encoding for the cryopyrin protein, an important component of the inflammasome, leading to excessive production of interleukin-1beta (IL-1ß). CAPS encompasses three different entities of variable clinical severity: familial cold auto-inflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurological cutaneous articular syndrome (CINCA)/ neonatal – onset multisystem inflammatory disease (NOMID). They are all characterised by recurrent episodes of systemic inflammation involving particularly skin, joints, central nervous system and eyes. …