Article
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Nature genetics - 1 May 2013
Lemaire Mathieu, Frémeaux-Bacchi Véronique, Schaefer Franz, Choi Murim, Tang Wai Ho, Le Quintrec Moglie, Fakhouri Fadi, Taque Sophie, Nobili François, Martinez Frank, Ji Weizhen, Overton John D, Mane Shrikant M, Nürnberg Gudrun, Altmüller Janine, Thiele Holger, Morin Denis, Deschenes Georges, Baudouin Véronique, Llanas Brigitte, Collard Laure, Majid Mohammed A, Simkova Eva, Nürnberg Peter, Rioux-Leclerc Nathalie, Moeckel Gilbert W, Gubler Marie Claire, Hwa John, Loirat Chantal, Lifton Richard P
Abstract excerpt
Pathologic thrombosis is a major cause of mortality. Hemolytic-uremic syndrome (HUS) features episodes of small-vessel thrombosis resulting in microangiopathic hemolytic anemia, thrombocytopenia and renal failure. Atypical HUS (aHUS) can result from genetic or autoimmune factors that lead to pathologic complement cascade activation. Using exome sequencing, we identified recessive mutations in DGKE (encoding...
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