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- Title
Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.
- Authors
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
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 perforin in NK cells and diminished NK cell function as well. Here, we analysed PRF1 and its putative promoter in SoJIA patients with or without a history of MAS.
- Subjects
MACROPHAGE activation syndrome; TREATMENT of arthritis; KILLER cells; GENETIC mutation; JOINT disease treatment
- Publication
Rheumatology, 2010, Vol 49, Issue 3, p441
- ISSN
1462-0324
- Publication type
Article
- DOI
10.1093/rheumatology/kep418