Article
Genetic predisposition to infection in a case of atypical hemolytic uremic syndrome.
Journal of human genetics - 1 Jan 2018
van den Heuvel Lambertus, Riesbeck Kristian, El Tahir Omaima, Gracchi Valentina, Kremlitzka Mariann, Morré Servaas A, van Furth A Marceline, Singh Birendra, Okrój Marcin, van de Kar Nicole, Blom Anna M, Volokhina Elena
Abstract excerpt
Most cases of hemolytic uremic syndrome (HUS) are caused by infection with enterohemorrhagic Escherichia coli (EHEC). Genetic defects causing uncontrolled complement activation are associated with the more severe atypical HUS (aHUS). Non-EHEC infections can trigger the disease, however, complement defects predisposing to such infections have not yet been studied. We describe a 2-month-old patient infected with...
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