Published in:
Open Access
01-11-2013 | Meeting abstract
P02-009 - Candle syndrome: expanding spectrum
Authors:
I Kone-Paut, A Kinoshita, H Ida, D Roybet, C Leaute-Labreze, P Pillet
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
CANDLE syndrome is an exceptional inflammatory condition starting within the first months of life, and comprising elevated fever, panniculitis with lipoatrophy, purplish and swollen eyelids, arthralgia, and developmental retardation. Most patients carry homozygous mutations in the PSMB8 gene that impair the assembly of the immunoproteasome (iP) and lead to interferon g deregulation. Since now, 39 published case reports under various acronyms have shown clinical and genetic heterogeneity, suggestive of various mechanisms underlying this very severe condition. We present two new cases enlarging the spectrum of CANDLE phenotype. …
