title: Hypothesis: familial Mediterranean fever--a genetic disorder of the lipocortin family?
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.
authors.affiliation: Medical Genetics Birth Defects Center, Ahmanson Pediatric Center, Los Angeles, CA.
authors.forename: M
authors.initials: M
authors.lastname: Shohat
authors.forename: J R
authors.initials: JR
authors.lastname: Korenberg
authors.forename: A D
authors.initials: AD
authors.lastname: Schwabe
authors.forename: J I
authors.initials: JI
authors.lastname: Rotter
mesh_terms: D017302:Annexins; D002135:Calcium-Binding Proteins / Q000235:genetics*; D004032:Diet; D004967:Estrogens / Q000627:therapeutic use; D010505:Familial Mediterranean Fever / Q000235:genetics / Q000378:metabolism*; D005808:Genes, Recessive; D006801:Humans; D010740:Phospholipases / Q000037:antagonists & inhibitors / Q000235:genetics*
chemical_list: D017302:Annexins; D002135:Calcium-Binding Proteins; D004967:Estrogens; D010740:Phospholipases