Tumour necrosis factor receptor-associated periodic syndrome caused by a rare mutation in the TNFRSF1A gene, and with excellent response to etanercept treatment.
Cantarini
L
L
Lucherini
O M
OM
Galeazzi
M
M
Fanti
F
F
Simonini
G
G
Baldari
C T
CT
Laghi Pasini
F
F
De Martino
M
M
Cimaz
R
R
D002648:Child; D000068800:Etanercept; D005260:Female; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D006801:Humans; D007074:Immunoglobulin G / Q000627:therapeutic use*; D007155:Immunologic Factors / Q000627:therapeutic use*; D009154:Mutation; D018124:Receptors, Tumor Necrosis Factor / Q000627:therapeutic use*; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D013577:Syndrome
D007074:Immunoglobulin G; D007155:Immunologic Factors; D018124:Receptors, Tumor Necrosis Factor; D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human; D000068800:Etanercept