DGKE and atypical HUS

Susan E. Quaggin*

*Corresponding author for this work

Research output: Contribution to journalShort surveypeer-review

37 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)475-476
Number of pages2
JournalNature Genetics
Issue number5
StatePublished - May 1 2013

ASJC Scopus subject areas

  • Genetics


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