title: DGKE and atypical HUS.
abstract: A new study reports that recessive loss-of-function mutations in the gene encoding diacylglycerol kinase ε result in atypical hemolytic-uremic syndrome. Notably, mutations in DGKE are not associated with activation of the complement pathway, the only other identified cause of this disorder so far, and have important implications for patient management.
authors.affiliation: Division of Nephrology at the Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. quaggin@northwestern.edu
authors.forename: Susan E
authors.initials: SE
authors.lastname: Quaggin
mesh_terms: D065766:Atypical Hemolytic Uremic Syndrome; D019852:Diacylglycerol Kinase / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006463:Hemolytic-Uremic Syndrome / Q000209:etiology*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: C526464:DGKE protein, human; D019852:Diacylglycerol Kinase