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Clinical and genetic aspects of the hereditary periodic fever syndromes Grateau GRheumatology (Oxford) 2004[Apr]; 43 (4): 410-5Hereditary periodic fever syndromes are a group of diseases characterized by intermittent bouts of clinical inflammation with focal organ involvement, mainly of the abdomen, musculoskeletal system and skin. The most frequent is familial Mediterranean fever, which affects patients of Mediterranean descent all over the world. Three other types have recently been characterized clinically and genetically. A thorough diagnosis is warranted, as clinical and therapeutic management is specific for each of these diseases. The underlying mechanisms of these inflammatory diseases appear to be specific for each type, involving so far unknown proteins, and have already opened new avenues in our understanding of the inflammatory response.|Antigens, CD/genetics[MESH]|Carrier Proteins/genetics[MESH]|Familial Mediterranean Fever/*diagnosis/drug therapy/genetics[MESH]|Humans[MESH]|Mutation[MESH]|NLR Family, Pyrin Domain-Containing 3 Protein[MESH]|Receptors, Tumor Necrosis Factor, Type I[MESH]|Receptors, Tumor Necrosis Factor/genetics[MESH] |
