Hypothesis: familial Mediterranean fever--a genetic disorder of the lipocortin family?
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.
Shohat
M
M
Medical Genetics Birth Defects Center, Ahmanson Pediatric Center, Los Angeles, CA.
Korenberg
J R
JR
Schwabe
A D
AD
Rotter
J I
JI
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*
D017302:Annexins; D002135:Calcium-Binding Proteins; D004967:Estrogens; D010740:Phospholipases