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Article

Phenotypic expansion of DGKE-associated diseases.

Journal of the American Society of Nephrology : JASN - 1 Jul 2014

Westland Rik, Bodria Monica, Carrea Alba, Lata Sneh, Scolari Francesco, Fremeaux-Bacchi Veronique, D'Agati Vivette D, Lifton Richard P, Gharavi Ali G, Ghiggeri Gian Marco, Sanna-Cherchi Simone

Abstract excerpt

Atypical hemolytic uremic syndrome (aHUS) is usually characterized by uncontrolled complement activation. The recent discovery of loss-of-function mutations in DGKE in patients with aHUS and normal complement levels challenged this observation. DGKE, encoding diacylglycerol kinase-ε, has not been implicated in the complement cascade but hypothetically leads to a prothrombotic state. The discovery of this novel...

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Source

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Identifiers

PMID: 24511134
DOI: 10.1681/ASN.2013080886
PMCID: PMC4073436

Genes

DGKE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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