Recurrent macrophage activation syndrome in spondyloarthritis and monoallelic missense mutations in PRF1: a description of one paediatric case

MeSH terms

• Adolescent
• DNA Mutational Analysis
• Female
• Genetic Predisposition to Disease
• Humans
• Immunosuppressive Agents / therapeutic use
• Macrophage Activation Syndrome / diagnosis
• Macrophage Activation Syndrome / drug therapy
• Macrophage Activation Syndrome / genetics*
• Macrophage Activation Syndrome / immunology
• Magnetic Resonance Imaging
• Mutation, Missense*
• Perforin / genetics*
• Phenotype
• Recurrence
• Spondylarthritis / diagnosis
• Spondylarthritis / drug therapy
• Spondylarthritis / genetics*
• Spondylarthritis / immunology
• Treatment Outcome