Hypothesis: familial Mediterranean fever--a genetic disorder of the lipocortin family?

Am J Med Genet. 1989 Oct;34(2):163-7. doi: 10.1002/ajmg.1320340205.

Abstract

Familial Mediterranean fever is an autosomal recessively inherited disorder of unknown cause characterized by recurrent attacks of inflammation, involving mainly the peritoneum, pleura, synovia, and skin. Based on a phenotype analysis, we propose that its manifestations may be related to a genetic defect in one of the family of lipocortin proteins. Evidence is presented supporting an abnormality in the first step of prostaglandin/leukotriene synthesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Annexins
  • Calcium-Binding Proteins / genetics*
  • Diet
  • Estrogens / therapeutic use
  • Familial Mediterranean Fever / genetics
  • Familial Mediterranean Fever / metabolism*
  • Genes, Recessive
  • Humans
  • Phospholipases / antagonists & inhibitors
  • Phospholipases / genetics*

Substances

  • Annexins
  • Calcium-Binding Proteins
  • Estrogens
  • Phospholipases