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Hereditary fevers.

Abstract

Hereditary fevers are a group of rare disorders of the inflammatory response. Clinical features include recurrent attacks of fever and organ-localized inflammation. Minimal clinical variations, a unique biochemical-specific abnormality, and the mode of genetic inheritance distinguish the three main diseases: familial Mediterranean fever, hyperimmunoglobulinemia D and periodic fever syndrome, and autosomal dominant recurrent fever. The complete elucidation of pathogenesis of these intriguing disorders will be provided by the genetic studies currently in progress.

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BibTeXRIS

G Grateau, J P Drenth, M Delpech. 1999. Hereditary fevers.. https://doi.org/10.1097/00002281-199901000-00013

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Genetically determined recurrent fevers.

The usefulness of molecular diagnosis is now well established for genetically determined recurrent fevers. In familial Mediterranean fever, the severity of the disease and the risk of renal amyloidosis are correlated with mutations in MEFV, and the serum amyloid-associated protein (SAA)1 alpha/alpha allele is a modifying factor for amyloidosis. Study of the genes in various species shows that the human mutations represent a reappearance of the ancestral amino acid state and the B30-2 domain, where most human mutations are localized, is absent in the rat and mouse proteins. Since the discovery of the responsible gene, TNF-receptor-associated periodic syndrome seems to be more frequent than previously considered. Among the new mutations described, some are associated with an incomplete penetrance.

Familial Mediterranean Fever↗