title: Recurrent macrophage activation syndrome in spondyloarthritis and monoallelic missense mutations in PRF1: a description of one paediatric case.
authors.affiliation: Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy. giovanni.filocamo@policlinico.mi.it.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Filocamo
authors.affiliation: Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Petaccia
authors.affiliation: Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Torcoletti
authors.affiliation: AOU A Meyer, Firenze, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Sieni
authors.affiliation: IRCCS G. Gaslini and Università di Genova, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Ravelli
authors.affiliation: Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
authors.forename: Fabrizia
authors.initials: F
authors.lastname: Corona
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D055501:Macrophage Activation Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense; D054353:Perforin / Q000235:genetics*; D010641:Phenotype; D012008:Recurrence; D025241:Spondylarthritis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D016896:Treatment Outcome
chemical_list: D007166:Immunosuppressive Agents; C510468:PRF1 protein, human; D054353:Perforin