Article
Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.
Pediatric rheumatology online journal - 24 Nov 2016
Kallinich Tilmann, Thorwarth Anne, von Stuckrad Sae-Lim, Rösen-Wolff Angela, Luksch Hella, Hundsdoerfer Patrick, Minden Kirsten, Krawitz Peter
Abstract excerpt
BACKGROUND: The pathophysiological origin of juvenile idiopathic arthritis (JIA) is largely unknown. However, individuals with presumably pathogenic mutations in FAMIN have been reported, associating this gene with a rare subtype of this disorder. FAMIN, that is formerly also referred to as LACC1 or C13orf31, has recently been shown to play a crucial role in immune-metabolic functions and is involved in...
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