Hereditary periodic fever syndromes.
作者： Michael F McDermott , Joost Frenkel
DOI: 10.1016/S0300-2977(01)00149-8
关键词:
摘要: Abstract Hereditary periodic fever syndromes are defined by recurrent attacks of generalised inflammation for which no infectious or auto-immune cause can be identified. For most these disorders, the molecular basis has recently been elucidated. This opened prospect novel therapeutic approaches. Familial Mediterranean (FMF) is caused mutations in MEFV gene. Pathogenesis poorly understood. The clinical severity part related to involved. Tumour necrosis factor receptor-1-associated syndrome (TRAPS) TNFRSF1A results decreased serum levels soluble TNF-receptor leading due unopposed TNF-α action. Results treatment with recombinant analogues promising. hyper IgD (HIDS) MVK gene, mevalonate kinase deficiency. pathogenesis remains unclear. Muckle–Wells (MWS) and familial cold urticaria (FCU) probably allelic disorders. gene located, but not
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