Article
Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.
Rheumatology (Oxford, England) - 1 Mar 2010
Vastert Sebastiaan J, van Wijk Richard, D'Urbano Leila E, de Vooght Karen M K, de Jager Wilco, Ravelli Angelo, Magni-Manzoni Silvia, Insalaco Antonella, Cortis Elisabetta, van Solinge Wouter W, Prakken Berent J, Wulffraat Nico M, de Benedetti Fabrizio, Kuis Wietse
Abstract excerpt
OBJECTIVE: Macrophage activation syndrome (MAS) in systemic onset juvenile idiopathic arthritis (SoJIA) is considered to be an acquired form of familial haemophagocytic lymphohistiocytosis (fHLH). FHLH is an autosomal recessive disorder, characterized by diminished NK cell function and caused by mutations in the perforin gene (PRF1) in 20-50% of patients. Interestingly, SoJIA patients display decreased levels of...
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