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DGKE and atypical HUS

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.

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Figure 1: Model for DGKE-associated nephropathy.

Katie Vicari


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Correspondence to Susan E Quaggin.

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Quaggin, S. DGKE and atypical HUS. Nat Genet 45, 475–476 (2013).

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